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However, based on the presence of multiple fetuses, the mathematical probabil improved outcomes reported in singleton gestations, the ity that one or more fetuses will be affected with a tri National Institutes of Health recommends that, unless somy increases and, thus, results in a higher overall risk a contraindication exists, one course of antenatal cor to the pregnancy than attributed to maternal age alone. This equates to a similar age to extend this so that antenatal corticosteroids may be related risk of Down syndrome between a 33-year-old administered for pregnant women starting at 23 weeks of woman carrying twins and a 35-year-old woman carrying gestation, regardless of fetal number. To avoid sampling error in women with prospective study of second-trimester maternal serum multifetal gestations, an amniocentesis is performed by marker screening, the mean detection rate for trisomy 21 sampling the first sac, then injecting indigo carmine into was 63% in twin gestations (71% when both twins were that sac before removing the needle. A second needle affected and 60% when one was affected), with a false is then inserted into the second sac, and a clear sample positive rate of 10. Furthermore, counseling is obtained from the second sac ensures that two different more complex because women must consider a different sacs have been sampled. A complex counseling issue set of options in the event that only one of the fetuses is arises in the presence of a monochorionic twin gestation, affected. In this situation, earlier selective reduction may be desirable for some it is important to discuss the accuracy of determining women. Experience is limited tive reduction of the affected fetus; and continuing with triplet gestations, but studies suggest that nuchal the pregnancy without any intervention, reduction, or translucency measurement is feasible, and screening termination. This growth discordance ratio is calcu genetic screening in monochorionic gestations (86). However, Whether growth-discordant multifetal gestations more information is needed before use of this test can be without a structural anomaly, aneuploidy, discordant recommended in women with multifetal gestations (87). Several studies that examined this population have shown aneuploidy in women with multifetal that multifetal gestations with discordant but appropriate gestations The procedure-associated and pregnancies with at least one growth-restricted pregnancy loss rates for both tests are similar (reported fetus have been observed to be associated with a at 11. Chorionic villus sampling has the advantage mortality and morbidity rates when compared with age that it can be performed earlier in gestation. In the first trimester, a substantial number of women the use of antepartum testing or umbilical artery with multifetal gestations undergo spontaneous reduc Doppler ultrasonography in women with uncomplicated tion of one or more fetuses, commonly referred to as the dichorionic multifetal gestations is not associated with vanishing twin (100). Antenatal fetal surveil increases with the number of gestational sacs: 36% for lance generally is reserved for women with dichorionic twins, 53% for triplets, and 65% for quadruplets (101). Chorionicity influences the rate of loss, predicts outcome in the survivor, and guides manage How are the complications caused by mono ment. Subsequent to the demise of one twin more closely than those with dichorionic pregnancies after 14 weeks of gestation, the risk of death in the co-twin because of the higher risk of developing complications is 15% in monochorionic gestations and 3% for dichori in pregnancy, including twintwin transfusion syndrome onic gestations (105). This disorder occurs in approximately 1015% of in the surviving twin is greater in monochorionic gesta monochorionicdiamniotic pregnancies and results from tions (18%) versus dichorionic gestations (1%) (106, 107). In the affected pregnancy, there is an nancy in the late second trimester or early third trimester imbalance in the fetalplacental circulations, whereby is associated with significant morbidity and mortality in one twin transfuses the other. It usually presents in the the other fetus, immediate delivery of the co-twin has second trimester, and serial ultrasonographic evaluation not been demonstrated to be of benefit (108). Therefore, approximately every 2 weeks beginning at approximately in monochorionic twin gestations in which death of one 16 weeks of gestation should be considered (113115). In the absence of another indication, diamniotic twin gestation with oligohydramnios (maxi delivery before 34 weeks of gestation is not recommended mum vertical pocket less than 2 cm) in one sac and (109). Care should be individualized for each patient, and polyhydramnios (maximum vertical pocket greater than consultation with a physician with advanced training in 8 cm) in the other sac. In the event that etiologies, such as selective fetal growth restriction or a twin pregnancy is diagnosed late enough that chorionic fetal discordance for structural, genetic, or infectious dis ity cannot be established, management should be guided orders. There is no evidence that routine assessment with by individualized assessment of fetal growth, growth dis umbilical artery Doppler is beneficial in the absence of cordance, and other indicators of fetal well-being. Once the diagnosis of twin twin transfusion syndrome has been made, the prognosis What is the role of antepartum fetal surveil depends on gestational age and severity of the syndrome. Staging is commonly performed via the Quintero staging Once chorionicity has been established in the first or system (Box 1), and treatment commonly is done by laser early second trimester, ultrasound examination between coagulation or amnioreduction, often in collaboration 18 weeks and 22 weeks of gestation allows for a sur with a clinician with expertise in twintwin transfusion vey of fetal anatomy, amniotic fluid, placentation, and syndrome diagnosis and management (112, 116). Fetal growth in uncomplicated twin pregnancies occurs at a similar rate as singletons until approximately Monoamniotic Twins 2832 weeks of gestation, when the growth rate of twins the natural incidence of monoamniotic twins is 1 in slows (110). However, the incidence may be increased for tions, there are no evidence-based recommendations on women who undergo in vitro fertilization using zona the frequency of fetal growth scans after 20 weeks of manipulation (117). This type of twinning is at particularly gestation; however, it seems reasonable that serial ultra high risk, with the historic perinatal mortality quoted at up sonographic surveillance be performed every 46 weeks to 80%, primarily related to cord entanglement (118). Staging for TwinTwin and route of delivery in women with multi Transfusion Syndrome ^ fetal gestations The risk of perinatal mortality begins Stage 2 Absent (empty) bladder in donor to increase again in twin pregnancies at approximately Stage 3 Abnormal Doppler ultrasonography 38 weeks of gestation (127). Although many clinicians offer early inpatient man agement (beginning at 2428 weeks of gestation) with Women with uncomplicated monochorionic daily fetal surveillance, regular assessment of fetal monoamniotic twin gestations can undergo delivery growth, and delivery between 32 weeks and 34 weeks at 3234 weeks of gestation. A twin gestation in and of itself Acardiac twin pregnancy is a complication unique to a is not an indication for cesarean delivery. Women with monochorionic gestation that is characterized by a fetus monoamniotic twin gestations should undergo cesarean lacking a normally developed heart and head. It occurs delivery to avoid an umbilical cord complication of in approximately 1% of monochorionic twins (121). A recent randomized trial of in intrauterine or neonatal demise in approximately 50% women with uncomplicated diamniotic twin pregnancies of cases (122). These rare conditions can be managed in between 32 0/7 weeks and 38 6/7 weeks of gestation collaboration with a clinician with expertise in compli with a vertex presenting fetus demonstrated that planned cated twin gestation management, such as a maternal cesarean delivery did not significantly decrease the fetal medicine specialist. Even with many reports in the lay press of suc is vertex, regardless of the presentation of the second cessful separations, of those conjoined twinning cases twin, vaginal delivery is a reasonable option and should diagnosed in utero, there is only an 18% survival rate of be considered, provided that an obstetrician with expe one twin from ultrasonographic diagnosis to successful rience in internal podalic version and vaginal breech separation (125). Magnesium sulfate reduces the severity and risk of Thus, in the presence of obstetricians with experience in cerebral palsy in surviving infants if administered vaginal delivery of multiple gestations, a planned vaginal when birth is anticipated before 32 weeks of gesta delivery of triplets can be considered (131133). Women with one previous low transverse cesarean delivery, who are otherwise appropriate candidates for Women with one previous low transverse cesarean twin vaginal delivery, may be considered candidates delivery, who are otherwise appropriate candidates for trial of labor after cesarean delivery (134138). Women Women who underwent pregnancy reduction from with multifetal gestations also are at increased risk of triplets to twins, as compared with those who con uterine atony, postpartum hemorrhage, and emergent tinued with triplets, were observed to have lower hysterectomy (139). The administration of neuraxial frequencies of pregnancy loss, antenatal complica analgesia in women with multifetal gestations facilitates tions, preterm birth, low-birth-weight infants, cesar operative vaginal delivery, external or internal cephalic ean delivery, and neonatal deaths, with rates similar version, and total breech extraction, if necessary, and to those observed in women with spontaneously can be converted to general anesthesia if the need for an conceived twin gestations. Unless a contraindication exists, one course of ante natal corticosteroids should be administered to all patients who are between 24 weeks and 34 weeks of Summary of gestation and at risk of delivery within 7 days, irre Recommendations and spective of the fetal number. Conclusions the following recommendations and conclusions the following recommendations and conclusions are based primarily on consensus and expert are based on good and consistent scientific evi opinion (Level C): dence (Level A): Women with uncomplicated monochorionic There is no role for the prophylactic use of any toco monoamniotic twin gestations can undergo delivery lytic agent in women with multifetal gestations, at 3234 weeks of gestation. The following recommendations and conclusions All women with multifetal gestations, regardless are based on limited or inconsistent scientific evi of age, are candidates for routine aneuploidy dence (Level B): screening. Because of the increased rate of complications asso the administration of neuraxial analgesia in women ciated with monochorionicity, determination of with multifetal gestations facilitates operative vagi chorionicity by late first trimester or early second nal delivery, external or internal cephalic version, trimester in pregnancy is important for counsel and total breech extraction. Proportion of women with twin gestations who present Perinatal Research Network Group in Japan. Trends in the occurrence, deter of Child Health and Human Development Network of minants, and consequences of multiple births. The risk of mortality or cerebral palsy morbidity and adverse outcomes with increasing mater in twins: a collaborative population-based study. Cerebral morbid morbidity and mortality associated with multiple gesta ity in preterm twins. A randomized trial of prenatal ultrasonographic screening: impact on maternal man 22. Diagnosis, controversies, and management of dichorionic twins: a population-based study. Hum Reprod the syndrome of hemolysis, elevated liver enzymes, and 2011;26:254957. Cochrane edge of cervical length and fetal fibronectin affect Database of Systematic Reviews 2012, Issue 10. Selective reduction of the impact of a rapid test on the treatment of women multifetal pregnancies to twins improves outcome over with preterm labor symptoms. Obstet Gynecol 1997; ultrasonically in the first trimester following induced ovu 90:60610. Prophylactic cerclage in the management of triplet tal pregnancies: two hundred cases at a single center. Lust A, De Catte L, Lewi L, Deprest J, Loquet P, sound assessment of cervical shortening in triplet preg Devlieger R. Monochorionic and dichorionic twin preg nancies and the effect of cerclage placement. Ultrasound nancies discordant for fetal anencephaly: a systematic Obstet Gynecol 2011;37:6178. Cerclage for short cervix on ultrasonography: Preterm delivery after selective termination in twin meta-analysis of trials using individual patient-level pregnancies. Efficacy and side effects of magnesium fibronectin testing for reducing the risk of preterm birth. Impact of the fetal fibronectin assay on [PubMed] [Full Text] ^ admissions for preterm labor. Does fetal delivery in twin pregnancy using prophylactic oral salbu fibronectin use in the diagnosis of preterm labor affect tamol. Prophylac (Level I) [PubMed] [Obstetrics & Gynecology] ^ tic oral betamimetics for reducing preterm birth in women 62. J Matern Fetal Neonatal Med long-term maternal subcutaneous terbutaline infusion 2010;23:13604. Gabriel R, Harika G, Saniez D, Durot S, Quereux C, pregnancy: a randomized controlled trial. Fetal Medicine Foundation munication: new warnings against use of terbutaline to Second Trimester Screening Group. Liem S, Schuit E, Hegeman M, Bais J, de Boer K, patients on 17-alpha-hydroxyprogesterone caproate using Bloemenkamp K, et al. Am J Obstet tion of preterm birth in women with a multiple preg Gynecol 2012;207:51. Groupe de Recherche en Obstetrique et terone caproate to prevent prematurity in twins. Institute of Child Health and Human Development (Level I) [PubMed] [Full Text] ^ Maternal-Fetal Medicine Units Network. Progesterone for the prevention of pre a randomised controlled double-blind multicentre trial. Obstetric-Fetal Pharmacology Research Units 17-hydroxyprogesterone caproate for twin pregnancy: Network. Antenatal corticosteroids for ^ accelerating fetal lung maturation for women at risk of preterm birth. Obstetrix Collaborative Research Network [published erratum appears in Am J Obstet Gynecol 70. American College birth in triplets using 17 alpha-hydroxyprogesterone cap of Obstetricians and Gynecologists. Br J Obstet before very-preterm birth to protect infant brain: the Gynaecol 1996;103:9991003. A randomized, controlled trial of mag [Full Text] ^ nesium sulfate for the prevention of cerebral palsy. Pregnancy loss after chorionic fate for the prevention of cerebral palsy in preterm infants villus sampling and genetic amniocentesis in twin preg less than 34 weeks gestation: a systematic review and nancies: a systematic review. Amniocentesis and chorionic villus sampling to magnesium sulfate on neuroprotection and mortal in twin gestations: which is the best sampling tech ity in preterm infants: a meta-analysis. Chorionic villus sampling before multifetal pregnancy Obstet Gynecol 2010;115:66971. Second-trimester Down syndrome maternal & Gynecology] ^ serum marker screening: a prospective study of 11 94. J Perinat Med 2007;35: trimester risk assessment for trisomies 21 and 18 in twin 626. Outcome of twin pregnancies with are the fetal growth patterns of singletons, twins, and trip extreme weight discordancy. The Doppler birth weight discordance in preterm twins affect neona assessment in multiple pregnancy randomised controlled tal outcome Fetal chorionicity and the risk of stillbirth [published erra Diagn Ther 2010;27:12133. Twin-twin trans [Obstetrics & Gynecology] ^ fusion syndrome: an ethics-based and evidence-based 104. Increased lating zona manipulation procedures and high-risk twin stillbirth in uncomplicated monochorionic twin preg ning frequency. Monoamniotic twins in contempo [Obstetrics & Gynecology] ^ rary practice: a single-center study of perinatal outcomes. Am for the co-twin following single-twin death: a system J Perinatol 2006;23:20511. Brain damage to the survivor within delivery reduce antenatal mortality in monoamniotic twin 30 min of co-twin demise in monochorionic twins. Timing of indicated late-preterm pathophysiology, diagnosis, outcome and treatment. Neonatal outcomes in triplet gestations cardiac output and decreasing oxygenation sequence in after a trial of labor. Am J wide collaborative epidemiological study of the Inter Obstet Gynecol 1998;179:11335. Vaginal birth after Study Collaborative Group [published erratum appears cesarean section in twin gestation. Delivery of the second twin: revisiting peripartum hysterectomy more common in multiple ges the age-old dilemma. No part of this American College of Obstetricians and Gynecologists publication may be reproduced, stored in a retrieval system, own internal resources and documents were used to con posted on the Internet, or transmitted, in any form or by any duct a lit er a ture search to lo cate rel e vant ar ti cles pub lished means, elec tron ic, me chan i cal, photocopying, recording, or between January 1990October 2013. Priority was given to articles reporting results of original Requests for authorization to make photocopies should be re search, although re view ar ti cles and com men tar ies also directed to Copyright Clearance Center, 222 Rosewood Drive, were consulted. American College of Obstetricians When reliable research was not available, expert opinions and Gynecologists.

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College of American Pathologists: the examination of the placenta: patient care and risk management arthritis in index fingers generic pentoxifylline 400 mg free shipping. Inversions involve two breaks within a single chromosome with the inter vening segment inverted arthritis and diet discount pentoxifylline 400 mg without a prescription. Deletions are the result of a distal break or two internal breaks on the chro mosome arthritis in back surgery generic 400 mg pentoxifylline with visa, allowing portions of chromosomal material to arthritis health associates patient portal buy pentoxifylline paypal be lost arthritis pathophysiology pentoxifylline 400mg amex. Isochromosomes are usually mirror image chromosomes that result from single breaks close to polyarthritis in dogs cheap pentoxifylline 400mg without a prescription the centromere, thus eliminating the whole of a long or short arm. Abortuses that have reached a 2-week stage of devel opment are estimated to have a 38% rate of chromosome abnormalities. In stillbirths (20 gestational weeks), the rate of chromosome abnormali ties is between 6. In fetuses between 9 and 20 weeks, the rate of chromosome abnormalities is around 7%. The average rate of chromo some defects of spontaneously aborted embryos earlier than 9 weeks is about 60% (59. Itisconceivabletotherateofchromosomeabnormalitiesbefore2weeks 180 Normal chromosome Deletion Deletion and translocation Deletion Translocation Inversion Paracentric Paracentric inversion inversion Robertsonian translocation Chromosome 13 Chromosome 14 Isochromosomal translocation X Chromosome Ring formation Ring chromosome 6. Chromosome painting probes for chromosome 3 (spectrum orange) and chromosome 7 (spectrum green) confirm an insertional translocation of chromosome 7 material into the chromosome 3 long arm. Fetuses with abnormal chromosomes are encountered after termination of pregnancy for prenatal detection of a chromosome anomaly; after termination of pregnancy when major fetal anomaly or intrauterine fetal death has been di agnosed by ultrasound examination; and, less commonly, in a second trimester spontaneous abortus. In most of the rare trisomies (mostly 2, 6, 11, 19, and 20), an embryo does not form. The commonest autosomal trisomy is chromosome 16; it al lows formation of a chorionic vesicle of 23 cm, a small amnion of 5 mm, and a tiny embryonic rudiment arrested at the embryonic disk stage. In trisomies 4, 5, 7, 8, 9, 10, and 22, disorganized embryos of a developmental age of 2535 days are generally seen. Aborted trisomy 13, 14, and 15 embryos generally reach a 40 to 45-day stage of development. Alobar holoprosencephaly eld defect is seen not only in trisomy 13 but also in trisomy 14 embryos. First trimester death of trisomy 21 fetuses usually occurs at a developmental age of 67 weeks. Triploidy occurs in about 1% of all recognized human conceptions but is observed in only 1 of 10,000 live births i. Most (86%) triploids are associated with formation of a partial mole with large amniotic sac containing an embryo with cord and membranes and with placenta showing hydatidiform changes, focal trophoblastic scalloping of villi, and formation of trophoblastic inclusions or microcysts. Even if retained for a long time in utero, partial moles do not seem to be responsible for malignant seque lae but may be associated with high human chorionic gonadotropin levels and preeclampsia. The commonest chromosome anomaly encountered during the second trimester is 45X (Turner syndrome). Fetuses with this anomaly are often identied on routine scans because of postnuchal uid accumulation or generalized fetal hydrops. Women of 37 years and over, particularly those women of more than 40 years of age, are at increased risk of bearing a fetus with a chromosome abnormality. The autosomal trisomies, particularly trisomy 21, are commonly encountered, as are fetuses with sex chromosome anomalies. The observation that a trisomic pregnancy is associated with a low level of fetoprotein in maternal serum offers another method of prenatal identication, useful be cause it is independent of maternal age. Investigation of pregnancies in which a potentially treatable malformation, such as exomphalos, has been identi ed, and those pregnancies complicated by growth retardation will also lead to the identication of some chromosomally abnormal fetuses. Fetal growth retardation is more likely to be identied beyond 21 weeks gestation, although fetuses with a triploid karyotype may be severely growth retarded in the second trimester. A wide range of anomalies are encountered in the offspring of individuals with balanced translocations, particularly when more than two chromosomes are involved. About 99% of all conceptuses with chromosomal abnormalities die prena tally, including almost all cases of monosomy X, polyploidy, and autosomal trisomy; one-half of fetuses with trisomy 21 die prenatally. Forty percent of liveborn Down syndrome children die by the end of the rst year of life. Non disjunctionappearstobenonrandombecausewomenwhohavehadachromo somallyunbalancedfetusaremorelikelytohaveanotheraneuploidfetusifthey miscarry again than women whose rst miscarried fetus was chromosomally normal. The risk of recurrence after one affected child with a standard trisomy is about 1% for a baby with some form of trisomy (trisomy 21 would be the most common). Approximately 25% of liveborn infants with chromosomal abnormalities have autosomal trisomy, and approximately 40% have a structural chromo somal defect. Those with balanced structural chromosomal defects are phe notypically normal but have some 15% fewer liveborn offspring than their chromosomally normal siblings. The phenotypic expression of chromosome abnormalities can be readily observed in the fetus. Thepathologicchangescanberecognizedandsomepathologicmarkers for specic chromosome abnormalities may be apparent in early fetal life such as cystic and calcied Hassal corpuscles in trisomy 21, gelatinous multivalvular disease in trisomy 18, partial hydatidiform mole of the placenta in triploidy, and cystic hygromas in Turner (45,X) syndrome. The incidence and types of chromosome abnormal ities in spontaneous abortions are listed in Table 6. Disturbanceofgrowthresultsin intrauterine growth retardation or a small-for-gestational-age 1x infant. Aneuploidy has more or less severely deleterious devel Up to 19 2024 2529 3034 3539 4044 45 opmentaleffectsongonads. Amildmal formation is an anomaly of morphogensis and should be viewed as a reduced expression of a major anomaly. A list of the more common mild malformations seen in chromosomal defects is shown in Table 6. The pathologic examination in chromosomal defects includes procedures mentioned in Table 6. The characteristic appearance of trisomy 21 is evident in the fe tus and can be identied by 14 weeks gestation. Cystic and calcied Has sal corpuscles recognized as well as gelatinous valvular tissue in the heart. This involves all valves (multivalvular) and represents persistence of early fe tal valvular development. Dermatoglyphics of Down syndrome (trisomy 21) (right) compared with the normal (left). Genetic Aspects Ninety-ve percent of cases have regular trisomy 21, about 3% of cases have mosaicism, and 2% have translocations (Figures 6. General features of abnormalities observed in trisomy 21 include in trauterine growth retardation; diminished sucking and swallowing reexes; 6. Brain in Down syndrome showing a tuber flocculus ameter, an open operculum, and a hypoplastic superior temporal within the cerebellum. A small percentage of translo cation cases have an isochromosome for the long arm of chromosome 21 t(21q:21q). The risk of a liveborn infant with Down syndrome increases with the age of the mother. If the mother carries a 14:21 translocation, recurrence risks are 10% and if the father carries such a translocation, the risks are 2%. The nger nails are small, the index nger overlaps the middle nger, and the fth nger overlaps the fourth (Figure 6. Other common malformations include cleft lip, omphalocele, exomphalos, radial aplasia, congenital heart defects, horseshoe kidney (Figure 6. This male infant shows the typical phenotype of trisomy 18 including micrognathia, low-set ears, slender bridge of the nose, short sternum, narrow pelvis, clenched fists with the index finger overlapping the 3rd finger, and rocker-bottom feet. Microscopic appearance of a pancreatic islet; cytomegaly of the cells that are somatostatin positive by immunoperoxidase staining. Type 1: 85%, extra haploid set of chromosomes of paternal origin, normal fetal growth, microcephaly, and a partial hydatidiform mole. Type 2: 15%, extra haploid set of maternal origin, severe intrauterine growth retardation, relative macrocephaly, and a small noncystic placenta. There is an increased carrying angle at the elbows and shield-shaped chest, gonadal dysgenesis with absent or delayed and scanty menstruation and infertility develop later. The chorionic villi are large, with scalloping at the margins, trophoblastic inclusion, and an edematous stroma. It is the most common sex-chromosome abnormality in females and affects an estimated 3% of all females conceived. More than half of all patients with Turner syndrome have a mosaic chromosomal complement. The use of uorescence in situ hybridization increases the detected prevalence from 34% with conventional cytogenetic techniques to 60%, and the use of re verse transcriptionpolymerase chain reaction assays as well, further increases the detected prevalence to 74%. Mosaicism with a normal cell line in the fe tal membranes may be necessary for adequate placental function and fetal survival. Typical ndings in clude thickening of the nuchal fold, cystic hygroma, renal (horseshoe kidney), and left-sided cardiac abnormalities (coarctation of the aorta). The presence of a cell line withaYchromosomecausesa30%riskofdysgerminomaoragonadoblastoma Thickening of nuchal fold Cystic hygroma in a streak gonad. Some progress to term uneventfully but it may be associated with intrauterine fetal death, intrauterine growth retardation, and prenatal mortality. Type 1: Abnormal cell line in cy totrophoblast associated with chromosomally normal placental stroma; the most common type. Type 2: Abnormal cell line in placental stroma associated with diploidy in cytotro phoblast and embryo and fetus. Type 3: Diploidy in fetus associated with mosaic or nonmosaic cell line in placental stroma and cytotrophoblast. Type 1: Abnormal cell line in cytotrophoblast associated with chromosomally normal placental stroma; the most common type. Type 2: Abnormal cell line in placental stroma associated with diploidy in cytotrophoblast and embryo and fetus. In Wigglesworth J, Singer D (eds): Textbook of Fetal and Perinatal Pathology, 2nd ed, Boston, Blackwell Science Publications, 1998, p 291. Pediatric Pathology Club Interim Meeting, Providence, Rhode Island, October 1113, 1979. Karayalcin G, Shanske A, Honigman R: Wilms tumor in a 13-year-old girl with trisomy 18. They arise either during blastogenesis (rst 4 weeks of development) or during organogenesis (2nd half of embryogenesis, weeks 58). Defects of blastogenesis tend to be severe, to be frequently lethal, and to involve several parts of the developing or ganism sharing a common inductive molecular pathway (polytopic anomalies; i. Defects of organo genesis tend to involve single structures (monotopic anomalies) i. Regardless of how mild or com mon in the population, malformations are never normal. Mild malformations (cleft uvula or xiphisternum, agenesis of palmaris longus muscle or of upper lateral incisors, spina bida occulta of L5) are common in the population and tend to be dominantly inherited. Developmental Fields Developmental (or embryogenic or morphogenetic) elds are the parts of the embryo that react as a unit in response to normal inductive, teratogenic, or mutational causes (Tables 7. Progenitor elds (Davidson) arise in the primary eld and represent upstream expression domains of combinations of molecular inductive systems including transcription factors. These combinations are specic for the anlage induced whether this is neural tube, heart, or gonadal ridge. The secondary or epimorphic elds are those subdivisions of the pro genitor elds giving irreversible rise to the nal structure. They remain elds so long as they are still capable of reactivity to causes of normal or abnormal development. Events in developmental elds are epimorphically hierarchical, temporally syndromized, spatially coordinated, and morphogenetically constrained. They are dynamic reaction units and phylogenetically highly co-adapted with all other elds in the body. Polytopicfield defects Acrorenal Laterality defects Cardiomelic Gastromelic Lumbosacral agenesis Ulnar-mammary, etc. Malformations: appearing to be monotopic, but probably arising during blastogenesis: Sirenomelia and all forms of caudal dysgenesis including sacral agenesis Otocephaly Anencephaly, rachischisis, and other gross neural tube defects Holoprosencephaly (with or without otocephaly) Renal agenesis Anal, colonic atresia Tracheo-esophageal fistula, tracheal agenesis, esophageal atresia Pentalogy of Cantrell (involving upper abdominal wall, lower sternum, diaphragm, pericardium, heart, and ectopia cordis). The Midline the midline is the phylogenetically oldest part of the metazoan body; it is not a eld per se but rather the most important morphogenetic landmark of the primary eld. An enormous number of extremely important inductive events occur at the midline including gastrulation with formation of notochord, lat erality formation, neurulation, cardiogenesis, etc. Polytopic Field Defect incorporates more than one developmental field but occurs within the same time during development. Three types of structural defects that can result in a chain of defects (sequence) by the time of birth. Polytopic Disturbed mutual induction during morphogenesis results in more distantly located defects . They are the traits that constitute our morphologicuniqueness, which are also the heritage of ethnic groups and of family inheritance. The morphogenetic lability of the midline increases the probability of multi ple midline anomalies in the same individual (as in the trisomy 13 syndromes). Midline morphogenetic events include segmentations (rhombomeres), branchings (lung buds), decussations (corpus callosum), programmed cell deathwithmorphogeneticresorptions(buccopharyngealandanalmembranes, tail), morphogenetic movements (d-looping of cardiac tube), cell migrations (neural crest, primodial cells), etc. Mild Malformations Versus Minor Anomalies Minor anomalies are quantitative changes occurring during phenogenesis. Subjective minor anomalies include abnormal ties of facial structure and appearance; objective minor anomalies include any traitthatcanbemeasuredorcountedi. Mild malformations are evident as such per se; apparent minor anomalies must always be evaluated on the basis of the family. Multipleminoranomaliesandapparentabsenceoffamilyresemblance are a highly sensitive indicator of aneuploidy; indeed, many Down syndrome individuals have only growth and minor anomalies.

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Accommodations within a short distance of the M ount Sinai Hospital include: Courtyard by M arriott Franklin Hotel M anhattan/Upper East Side 164 East 87th Street (between Lexington and Third Avenues) 410 East 92nd Street 212-369-1000 or 800-607-4009 (between First and York Avenues) Check availability and make reservations Hotel New ton through M ount Sinai Guest Services 2528 Broadway to receive discount rates. The M arm ara M anhattan O n the Ave Hotel Luxury Hotel & Residence 2178 Broadway at 77th Street 301 East 94th Street 212-651-3351 or 800-497-6028 (between First and Second Avenues) * Request special M ount Sinai rates. If you require more fexible hours, you may speak to the nurse manager on the unit. The family waiting area is located on the ffth foor, adjacent to the cardiac catheterization laboratory. Request for Private/Single Room s in the Cardiac Care Center Private rooms can be requested. Private Duty Nursing the Private Duty Nursing Ofce, 212-241-7383, is located in the Guggenheim Pavilion, M C Level, Room 209 and is open from 7 am 11 pm. Patients Library Books, audiocassettes, large print, and talking books in English and other languages are available and can be delivered to patients by calling 212-241-6110. Interpreters Translation services are available upon request for many languages and will be arranged by the Care Center Staf. Large-type books and talking books with earphones are available through the Patients Library. The New York State Patients Bill of Rights is available in Braille and is read in English and Spanish on closed circuit television. Patient Representatives Patient Representatives help patients and their families with problems, complaints, or concerns about their health care or M ount Sinai services that other staf are unable to resolve. Patient Representatives provide information regarding the New York State Health Care Proxy and patients rights, and can answer questions about hospital policy and procedures. For more information, please contact Patient Financial Services at 212-731-3100 or 866-682-9380. Faith-Related Resources Faith-related Resources include two chapels in the Guggenheim Pavilion, W est Tower (the Peck Jewish Chapel and the Hatch Interdenominational Chapel) for meditation and religious services. Chaplains representing all faiths and denominations are available to patients and families and can be reached by telephone. Jewish Chaplain 212-241-7262 Catholic Chaplain 212-241-7908 Protestant Chaplain 212-241-5280 Greek Orthodox Chaplain 212-749-0017 Telephone and Television Service can be requested during the admissions process. Beautician Services, including hair and nail care, available by appointment at 212-241-5570. Notary services are available M onday through Friday from 9 am 4:30 pm through the Patient Service Center at 212-659-8990. The M ount Sinai Gift Shop, which carries a wide variety of useful and decorative gift items, childrens gifts and baby items, is located on the 7th foor of the Guggenheim Pavilion. The Plaza Cafeteria ofers a wide selection of appetizing hot and cold dishes, including Kosher food. The Cafeteria is open from 6:30 am 7:30 pm, M onday through Friday, and some hours on the weekends as well. A Cofee Stand, serving delicious Starbucks cofee and an assortment of breakfast rolls, is open M onday through Friday, from 6:45 am 9:00 pm in the W est Lobby of the Annenberg Building. Sharma, M D, is well known for complex coronary interventions, performing over 1,500 each year with an extremely low complication rate. Kini, M D, performs over 1,000 coronary interventions annually (the highest number by a female interventionalist in the United States) with an extremely low complication rate of <0. According to New York State Department of Health Reports for 2004-2006, 2005-2007, and 2009-2011, Dr. As the Program Director of the M ount Sinai Hospitals M itral Valve Repair Reference Center, he has set national benchmarks, with > 99 percent degenerative mitral valve repair rates, while running one of the largest programs in the United States with a team that now performs over 400 mitral valve operations per year. Bronster, M D Clinical Professor, Neurology Education and Training M D: M ount Sinai School of M edicine Residency, Internal M edicine: Cabrini M edical Center Residency, Neurology: M ount Sinai Hospital Um esh K. Gidw ani, M D Associate Professor, M edicine, Pulmonary, Critical Care and Sleep M edicine Education and Training M D: Grant M edical College Residency, Internal M edicine: St. Sharma Family Foundation Cardiac Catheterization Laboratory at M ount Sinai Heart is to improve outcomes and safety of our interventional patients by using a team concept to deliver clinical innovations, unrivaled research, and personalized clinical care. Please help you learn more about your heart, What Are the Symptoms of Aortic Stenosis. Only a options, including a less invasive Understanding Your Treatment Options for Severe Aortic Stenosis. Aortic stenosis can be caused by a Increasing age the hearts main function is to pump birth defect, rheumatic fever, radiation High blood pressure blood to the rest of your body. In High cholesterol valve usually has two or three leaflets elderly patients, severe aortic stenosis (flaps of tissue) that open and close like Smoking is sometimes caused by the build-up gates to regulate the one-way flow of of calcium (mineral deposits) on the blood through the heart. This reduces their It is important that your valves are ability to fully open and close. Its important to know that valve the symptoms of aortic stenosis are There are two problems that can Tricuspid heart valve disease may occur with no commonly misunderstood by valve outward symptoms. Approximately not close completely and blood can 50% of the people who develop If you suspect any change in your ability to perform routine leak backwards symptoms will die within an daily activities, consult your cardiologist right away. However, performed through smaller incisions, the leg while the heart is still beating, only a specialized Heart Team both require the use of a heart lung using guidance from X-ray and can determine which treatment machine which temporarily takes over echocardiography. During the procedure, the surgeon will completely remove the diseased aortic valve and insert a new valve. Edwards first transcatheter heart valve was approved commercially in Europe in 2007 and in the United States in 2011. To date, Edwards transcatheter heart valves have treated more than 150,000 patients in over 65 countries around the world. A small incision will be made in your compressed within the or drink anything after midnight. Your doctor will make sure that your the delivery system tube and carrying the valve will be inflated, new valve is working properly before compressed on the balloon to expanding this new valve within removing the sheath and closing the make it small enough to fit your diseased valve. The frame of the new valve is strong and it will use the leaflets of your diseased valve to secure it in place. They will give Benefits of the Procedure: If you have severe aortic stenosis, you specific instructions to help you with your recovery. It is important to carefully follow your doctors your recovery time to getting back to everyday activities. Quality of Life Improvement: Regular check-ups with your doctor are very important. If you have any patient health improvements within 30 days including: the unusual problems such as bleeding, pain, other discomfort or changes in your ability to take care of themselves and to participate in overall health, be sure to contact your doctor. How long your tissue valve will last depends on many patient factors and medical conditions. Average Length of Make sure you speak to your However, regular follow-ups will help your doctor know how Hospital Stay specialized Heart Team regarding your valve is working. Based on their health, some patients may be considered Death From Any Cause 1 out of 100 patients 7 out of 100 patients Death 4 out of 100 patients 13 out of 100 patients intermediate-risk for surgery. If you are at intermediate-risk for surgery, these Cardiovascular Death* 1 out of 100 patients 4 out of 100 patients Cardiovascular Death* 3 out of 100 patients 8 out of 100 patients clinical data may resemble what you can expect. The New Pacemaker New Pacemaker trial enrolled about 1,000 patients in 11 out of 100 patients N/A 7 out of 100 patients N/A Implantation Implantation the United States. Patients were examined at 30 days and 1 year after Major Vascular Complications 6 out of 100 patients N/A Major Vascular Complications 5 out of 100 patients N/A the procedure and will continue to be followed every year for 10 years. Myocardial Infarction Myocardial Infarction 1 out of 100 patients N/A 2 out of 100 patients N/A (heart attack) (heart attack) the outcomes in this trial were compared to those of patients Endocarditis 1 out of 100 patients 1 out of 100 patients Endocarditis 0 out of 100 patients 1 out of 100 patients who participated in another trial and were treated with surgery. Based on their health, some to: wear, tear or movement forward include: Risk Within 30 Days Risk Within 1 Year blood clots) floating in the blood patients may be considered high-risk or (prolapse) or backward (retraction) Death stream or attached to an object, from the normal position of the valve too sick for surgery. If you are at high Death From Any Cause 2 out of 100 patients 13 out of 100 patients including the valve risk or too sick for surgery, these clinical leaflets, calcium build up on the Major stroke; a condition when data reflect what you can expect. Blood-thinning An aortic heart valve that only has thin the blood or prevent blood clots medicine may increase the risk of bleeding in the brain (stroke). This happens less A previously implanted medical if aortic stenosis is treated with An existing artificial aortic heart valve device in any heart valve medicine and by inflating a balloon A heart that does not pump efficiently A diseased mitral valve that is inside the heart. This occurs blood cell count, or other less if aortic stenosis is instead treated abnormalities in the blood with medicine and by inflating a balloon inside the heart Unusual ultrasound images of the heart that could represent the valve implant may not last as abnormalities such as a blood clot long in patients who do not process calcium normally Allergies to blood-thinning medications or dye that is injected Talk to your doctor if you are allergic during the procedure to the implant materials. See instructions for use for full prescribing information, including indications, contraindications, warnings, precautions and adverse events. What is the fate of patients with severe aortic stenosis who dont undergo aortic valve replacement Before 6 months, when seal is adequate, patients can cease warfarin and should begin clopidogrel 75 mg daily and increase aspirin dosage to 300-325 mg daily. Clinical Examination has Limited Reliability in Assessing Filling Pressures Data from clinical evaluations has poor sensitivity and predictive value in determining hemodynamic profile Capomolla, 2005. A device/system-related complication is an adverse event that is, or is possibly, related to the system (wireless pressure sensor or external electronics) and at least one of the following: is treated with invasive means (other than intramuscular medication or a right heart catheterization with a Swan-Ganz measurement that is used for diagnostic purposes), results in the death of the patient, results in the explant of the device. Heart murmurs, a common finding in dental patients, are of major con cern to dental profes sionals because certain the patient with dental procedures occa sionally can induce severe a heart murmur cardiovascular complica tions. This review article is based on data published in peer-reviewed journals, including practice guidelines published by major dental and heart murmur is a prevalent finding in medical professional organizations. Echocardiography is the primary because certain dental procedures occasion means of evaluating heart murmurs, and ally can induce severe cardiovascular compli all dental professionals should become Acations. Murmurs may indicate existing familiar with major aspects of an echocar heart disease that is a risk factor for infective endo diogram. We provide an overview of fosters better communication with other the types of heart murmurs, how they are diagnosed, health care professionals and results in how to understand the major aspects of an echocardio improved patient care. Occasion diastolic and continuous murmurs are ally, an additional heart sound associated with the ven abnormal. It is referred Pathological murmurs occur as a to as S3 when it occurs in early diastole and S4 when result of either diseased cardiac valves heard in late diastole after the atrial contraction. The most common congenital cardiac lesions is beyond the scope of causes of clinically significant murmurs in this this article. Certain people with ganism induces an autoimmune reaction that congenital heart disease have a characteristic may lead to valvular scarring and calcifications, body habitus, such as patients with trisomy 21 especially involving the mitral valve. Sometimes, this is accompanied by regurgi aortic insufficiency, both of which produce dias tation. Subsequent narrowing of the aortic tation, a murmur often will be heard preceded by valve orifice results in the clinical manifestations a systolic click. Myxomatous degenera thickening, followed by vegetations (that is, tion of valve leaflets, typically those of the mitral thrombi adherent to a diseased valve and com valve, results in leaflet redundancy and systolic posed of platelets, fibrin and sometimes microor billowing of one or both leaflets into the left ganisms) and valvular insufficiency. Initially, the atrium (compare the appearance of a normal damage is caused by immune complex deposition mitral valve in Figure 1 [page 351] with that of a on the valve. The fenfluramine-phentermine used for weight reduc authors of that study concluded that valvulopathy tion have been implicated in the development of developed primarily in patients who had taken valvulopathy and valvular regurgitation. Food and Drug Administra months, and it resulted predominantly in mild tion criteria, valvulopathy may be considered to aortic regurgitation. Clinicians may treat patients with heart defects that have been acquired as a result of undergoing radiation therapy to the mediastinal region for Hodgkins and non-Hodgkins lymphomas or cancers of the breast, lung and esophagus. Radiation injury leads to fibrotic changes with or without calcifications of the heart valves. However, it is known that radia tion may induce valvular regurgi tation, stenosis or both, which may be progressive in nature. Among those who were treated at least 20 years before the study (when radi ation dosages were much larger than those used currently), only 1. In this auscultatory finding on cardiac examination is a procedure, the clinician performs cardiac imaging systolic murmur, which occurs in 80 to 96 percent after placing an ultrasound probe on various of children and in 15 to 44 percent of adults. These murmurs can be functional (innocent) or During transesophageal echocardiography pathological. It is con ciated with dyspnea, chest pain or lower sidered an invasive procedure and should be used extremity edema should be suspected only when information beyond of having a pathological murmur. A well-trained and experienced Once echocardiographic images are acquired and cardiologist can differentiate a functional (inno stored on a videotape or computer disk, the cardi cent) murmur from a pathological one in almost ologist analyzes the examination findings and all cases. The major components of this Gaskin and colleagues,29 auscultation skills are report are discussed below. The normal diagnostic test that uses ultrasound waves to values may vary from one medical center to make images of the heart chambers, valves and another, but the various components of a surrounding structures. The information regarding chamber sizes and wall thickness often is obtained via M-mode echocardiography. A descriptive section of the report follows the numeric data in which specific cardiac pathology (if present) is mentioned, and its hemodynamic significance is discussed based on the data from all echocardio graphic imaging modalities.

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Instead arthritis pain journal buy genuine pentoxifylline on-line, mothers should expect results such as arthritis knee deformity 400mg pentoxifylline visa, You have a 1 in 240 chance of having a child with Down syndrome or You have a 1 in 872 chance of having a child with Down syndrome arthritis knee doctor purchase 400mg pentoxifylline mastercard. Recently arthritis reactive treatment generic 400 mg pentoxifylline visa, researchers have developed a maternal serum/ultrasound/age combination that can yield a much higher accuracy rate at an earlier stage in the pregnancy arthritis in knee 30 year old 400mg pentoxifylline with visa. Even with the ultrasound arthritis in dogs and fish oil purchase pentoxifylline line, however, the screening will not defnitively diagnose Down syndrome. While the initial clinical trials were conducted just on cases with trisomy 21, one form of Down syndrome, a positive result cannot distinguish between trisomy 21, translocation Down syndrome, and high-percentage mosaic Down syndrome. Put another way, a positive result will pick up all forms of Down syndrome, except mosaic Down syndrome that is 33% or lower. All mothers who receive a positive result on this test are encouraged to confrm the diagnosis with one of the diagnostic procedures described below. If the chance of having a child with Down syndrome is high from prenatal screening, doctors will often advise a mother to undergo diagnostic testing. These procedures, which carry up to a 1% risk of causing a spontaneous termination (miscarriage), are nearly 100% accurate in diagnosing Down syndrome. Other mothers start with a prenatal screen then proceed to a defnitive diagnostic test. Whether or not to undergo prenatal screening or diagnostic testing is a personal decision, and expectant parents must make the choice that is best for them. Some reasons for choosing a prenatal test include: Advanced Awareness: Some parents would like to know as soon as possible if their fetus has Down syndrome so that they can make preparations (like informing other family members and doing research on Down syndrome) prior to the birth. Families who have chosen this option have reported in research studies that the birth of their child with Down syndrome is as much of a celebratory process as any other birth because they have had time to adjust to the new diagnosis. There is a long waiting list of families in the United States ready to adopt a child with Down syndrome. One of the best ways to begin to consider these choices is to speak to family members of individuals with Down syndrome through a local Down syndrome organization. In addition, there are many books and articles written by family members about their personal experiences. A message from families that is echoed again and again is that the positive impacts of having a member with Down syndrome far outweigh any diffculties or challenges that may come up. If you have any questions about these procedures, do not hesitate to ask your doctor. It is important that you receive accurate information and understand all your options. Since many expectant parents forgo prenatal diagnostic tests, most cases of Down syndrome are diagnosed after the baby is born. Doctors will usually suspect Down syndrome if certain physical characteristics are present. Some of the traits common to babies with Down syndrome include: low muscle tone a fat facial profle a small nose an upward slant to the eyes a single deep crease across the center of the palm an excessive ability to extend the joints small skin folds on the inner corner of the eyes excessive space between large and second toe Not all babies with Down syndrome have all these characteristics, and many of these features can be found, to some extent, in individuals who do not have the condition. Therefore, doctors must perform a special test called a karyotype before making a defnitive diagnosis. By examining the karyotype, they can determine accurately whether or not your baby has Down syndrome. An additional chromosome means that there is excess genetic material in your babys cells. While this will affect your childs development, it is important to realize that it is not a blueprint that determines his or her potential. As is true for all people, the skills and knowledge he or she acquires will be a unique combination of innate abilities and life experiences. There are, however, certain health and developmental concerns commonly associated with Down syndrome. Individuals with Down syndrome are at an increased risk for certain health conditions. Babies, in particular, are more likely to have heart problems, hearing loss and respiratory infections; however, advances in medicine have rendered the majority of these health problems treatable. All people with Down syndrome experience delays in their cognitive and physical development, however, cognitive delays are usually mild to moderate, and they are not indicative of the many strengths and talents that each individual possesses. Low muscle tone and other physical characteristics associated with Down syndrome can affect how soon your baby will be able to sit up, walk and speak. Rest assured, though, your child will learn to do these and many more activities, only possibly somewhat later than his or her peers without Down syndrome. Good medical care and early intervention can provide a strong foundation for your childs optimal development. The next two sections, A Healthy Start and Early Intervention, will help you begin learning about what you can do to help your baby get off to the best start possible! The site provides educational and social issues that may answers to common questions, educates arise when parenting a baby with Down Down Syndrome: the First 18 Months. Understanding a Down Syndrome Diagnosis emotional support and prenatal screenings. However, it is true that newborns with Down syndrome are at a higher risk for certain complications. While your baby may not have any of these potential complications, it is important to be aware of them so you can catch them early if they do occur. This section discusses possible health concerns and useful tools for monitoring your childs health care and growth patterns. It also provides information on how to select a pediatrician, questions to think about when making decisions about potential treatments, and a discussion of feeding options. Newborns with Down syndrome are at a higher risk for congenital heart defects, hearing and vision loss, respiratory problems, obstructed digestive tracts, childhood leukemia, and other health conditions. Doctors routinely screen for these conditions because some, such as a heart defect, may be present even if no symptoms are readily apparent. While the list of possible health problems can be frightening, keep in mind that your baby will not necessarily have all, or possibly any, of them. If he or she does happen to have one or more of these complications, advances in medicine have rendered most conditions treatable. There is a tremendous amount of information available, so it is important not to let yourself get overwhelmed. Learn at your own pace, and try to focus on those things you can do in the present to get your baby off to a good start. The American Academy of Pediatrics has developed specialized health care information for families of children with Down syndrome that spans the prenatal period through age 21. Health Care Information for Families of Children with Down Syndrome provides information about potential health concerns at each stage of development. Checklists adapted by the American Academy of Pediatrics can be found in the back of this booklet. These guidelines help defne the standards of quality care for individuals with Down syndrome. In addition to specifc recommendations for screening tests, they include information about the kinds of medical conditions that individuals with Down syndrome are at risk for and suggestions for early intervention, diet and exercise, and other issues across the lifespan. Because you are ultimately the most concerned with your childs development, it is important for you to become familiar with the guidelines and communicate on a regular basis with your physician to make sure your baby is getting the best care possible. However, keep in and up-to-date resource for mind that it is not always necessary to fnd an expert on Down syndrome. It provides overviews the most important thing to consider when you have a baby with special of health and developmental health care needs is fnding a doctor who is willing to learn about the concerns in individuals with Down condition and collaborate with you to ensure the best possible care for syndrome. One of the best ways to fnd a pediatrician is to ask families of other children with Down syndrome in your area for recommendations. As a parent, you have a right to interview potential physicians to fnd the best one for you. A good doctor recognizes that parents are experts when it comes to their children. Down Syndrome Clinics Down syndrome clinics provide specialized medical care and other services for individuals with Down syndrome and their families. As a parent, you no doubt want to give your child every opportunity to realize his or her life aspirations and lead a fulflling life. You will likely come across lots of information about various alternative therapies as you research Down syndrome. Parents often get excited about claims that particular treatments can improve motor and cognitive functions or other areas of development, and many invest a lot of hope and money in these treatments. While this is understandable, be aware that although there have been many popular therapies through the years, none have been scientifcally proven. When considering any potential therapy, be sure to discuss it with your pediatrician. Ask for copies of current research studies that support the therapys claims and consider the following questions: Is the therapy documented as safe and effective You may be aware of the tremendous benefts that breastfeeding provides to newborns. This is especially important to infants with Down syndrome, who have higher rates of respiratory and other infections. Breastmilk can also reduce bowel problems, which are more common in babies with Down syndrome, and contains an ingredient known to promote brain growth and development. In addition, the physical process of breastfeeding strengthens babies jaw and facial muscles, which helps lay a good foundation for speech and language development, and provides skin-to-skin contact, a form of sensory stimulation that creates neural connections that can facilitate future learning. There are many great reasons to breastfeed, but whether or not to do so is a personal choice. There are many factors that play into this decision, including whether or not you feel your body is producing enough milk, whether or not your baby has health complications, and whether or not you plan to return to work soon after delivery. If you do plan to breastfeed, be aware of certain factors that might make it challenging. Babies with Down syndrome have low muscle tone, so it may be diffcult for your baby to latch on to your breast at frst. As babies with Down Syndrome also tend to be sleepier than other infants, you will likely have to make an extra effort to raise your babys alertness and keep him or her awake throughout the entire feeding. Also, if your baby needs surgery, he or she may require a feeding tube for a short time. There are many organizations and individuals that can help you get started and provide tips for overcoming these and any other challenges you may encounter. These same specialists can help you learn how to pump, store and transport your breastmilk or how to select the right baby formula to meet your infants needs if you choose to bottlefeed. When it comes to feeding, the important thing is to make the choice that is best for you. Feedings should provide quality time for a parent and child to bond, so they should always be as comfortable and stress-free as possible for both individuals. A meeting with your hospitals lactation specialist is a great place to start learning about what feeding option may be right for you. Health Supervision for Children with Australian Breastfeeding Association Guthrie Medlen, J. It journal of the American Academy of learning more about breastfeeding, as well includes a chapter on breast and bottle Pediatrics, as a clinical report focusing as assistance to women who are currently feeding infants. While techniques that work for all children, with professionals to discuss such topics as complementing the care of the physician and and without disabilities. La Leche League has information or 703-338-1776 specifc to breastfeeding children with Down syndrome at All young children go through their most rapid and developmentally signifcant changes during this time. During these early years they achieve the basic physical, cognitive, language, social and self-help skills that lay the foundation for future progress. Children with Down syndrome typically face delays in certain areas of development, so early intervention is highly recommended. This section provides details on the types of early intervention available and how to access services. Early intervention is a systematic program of therapy, exercises and activities designed to address any developmental delays that may be experienced by children with Down syndrome or other disabilities. This law requires that states provide early intervention services for all children who qualify, with the goal of enhancing the development of infants and toddlers and helping families understand and meet the needs of their children. The most common early intervention services for babies with Down syndrome are physical therapy, speech and language therapy, and occupational therapy. Early intervention should begin any time shortly after birth and usually continues until the child reaches age 3. The sooner early intervention begins, the better; however, its never too late to start. Development is a continuous process that begins at conception and proceeds stage by stage in an orderly sequence. There are specifc milestones in each of the four areas of development (gross and fne motor abilities, language skills, social development and self-help skills) that serve as prerequisites for the stages that follow. Most children are expected to achieve each milestone at a designated time, also referred to as a key age, which can be calculated in terms of weeks, months or years. Because of specifc challenges associated with Down syndrome, your baby will likely experience delays in certain areas of development. Rest assured that he or she will achieve each of the same milestones as other children, just on his or her own timetable. In monitoring the development of your child with Down syndrome, it is useful to focus on the sequence in which milestones are achieved rather than the age at which they are achieved. For example, during the frst 3 to 4 months of life, an infant is expected to gain head control and the ability to pull to a sitting positions (with help) with no head lags and enough strength in the upper torso to maintain an erect posture.


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