Depressive symptoms among international exchange students, and their predictors

Screening for fetal cardiac defects is traditionally based on the ultrasonographic examination of the four-chamber view of the fetal heart at mid-gestation, which has been shown to identify 26% of major cardiac defects. Pathological studies in fetuses with increased nuchal translucency at 10-14 weeks of gestation, a sonographic marker for chromosomal abnormalities, have shown an association between increased nuchal translucency and congenital abnormalities of the heart. This study reports the prevalence of cardiac defects in 1427 chromosomally normal fetuses with increased nuchal translucency thickness, and examines the potential value of this sonographic marker in screening for major cardiac defects. The diagnosis of cardiac defects was made either by postmortem examination in terminations of pregnancy and intrauterine or neonatal deaths or by clinical examination and appropriate investigations in live births. The prevalence of major cardiac defects was 17 per 1000 (24 of 1427 fetuses) and increased with translucency thickness from 5.4 per 1000 for translucency of 2.5-3.4 mm to 233 per 1000 for translucency of > or = 5.5 mm. These findings suggest that measurement of nuchal translucency thickness at 10-14 weeks may prove to be a useful method of screening for abnormalities of the heart and great arteries in addition to its role in screening for chromosomal defects.     

Intracoronary brachytherapy in the Cath Lab. Physics dosimetry, technology and safety considerations

The aim of this study was to examine the relationship between nuchal translucency measurements and outcome of pregnancy with special regard to fetuses with an enlarged nuchal translucency and a normal karyotype. Fetal nuchal translucency measurements were performed on consecutive mothers attending the prenatal diagnosis center of our hospital. A complete follow-up was obtained in 88.4% of the cases. Of the 74 fetuses (4.4%) with an enlarged nuchal translucency (> or = 3 mm), 25 (33.8%) had an abnormal karyotype. Two pregnancies ended in a spontaneous abortion before karyotyping was performed. In the remaining 47 eukaryotic fetuses with enlarged nuchal translucency, five (10.6%) had a structural anomaly, two were affected by genetic syndromes (4.2%) and an additional four fetuses (8.5%) were affected by a single-gene disorder. A spontaneous abortion or an intrauterine death occurred in 6.4% and in 2.1% of these fetuses, respectively. The total incidence of an unfavorable outcome in the group of chromosomally normal fetuses with enlarged nuchal translucency was 32%. In contrast, in the group with a normal nuchal translucency (< 3 mm), the incidence of an unfavorable outcome was 7.5%. There is a strong association between enlarged nuchal translucency measurements and congenital (structural and genetic) abnormalities, as assessed by receiver operator characteristic analysis. This may represent, in fetuses with a normal karyotype, a non-specific sign of a disturbance in the developmental process. In these cases, detailed ultrasound surveillance is recommended.     

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BACKGROUND: To evaluate the implementation of nuchal translucency measurement as an additional examination within the first trimester routine ultrasound in an unselected population of women. METHODS: A prospective study in which all pregnant women during 1994, referred for the first trimester routine ultrasound scan, were asked to participate. Of a total of 1852 women with a viable pregnancy, results from 1444 women were evaluated. When a nuchal translucency of 4 mm or more was found, the woman was offered both a genetic amniocentesis in gestational week 13-15 and an additional ultrasound examination in gestational week 18-19. RESULTS: Six fetuses had a nuchal translucency of 4 mm or more and none of these had any chromosomal abnormality. Neither had any of the fetuses in the study, karyotyped for other reasons, any chromosomal defect and nor was there any child born with aneuploidy in the study population. No strong relation between major malformations e.g. abnormalities of the heart and increased nuchal translucency was found. The fetus with the largest nuchal translucency (=6 mm) was born healthy. CONCLUSION: The efficacy of nuchal translucency measurement needs further evaluation before it can be introduced as a screening method in an unselected pregnant population.     

First-trimester neck abnormalities: three-dimensional evaluation

In order to study the first trimester ultrasonographic differences between nuchal translucency and hygroma colli, we rescanned 25 fetuses (13 with nuchal translucency and 12 with hygroma colli) using transvaginal and three-dimensional ultrasonography, after obtaining a fetal karyotype report. Our objective was to test the premise that the different physiopathologic mechanisms of both processes would be reflected in detectable sonographic differences. Our retrospective analysis showed that the most striking ultrasonographic difference was the presence of bullae as well as greater irregularity, extent, and amplitude of the membrane in cases of hygroma colli. Fetuses with simple nuchal translucency had a more homogeneous linear membrane. Although detailed analysis was impossible in 30% of cases, we found three-dimensional ultrasonography to be a useful technique for establishing the differences between these two entities.     

Increased nuchal translucency as a marker for fetal chromosomal defects

BACKGROUND: Screening for trisomy 21 (Down's syndrome) by measuring maternal serum alpha-fetoprotein, chorionic gonadotropin, and estriol concentrations and then performing chorionic-villus sampling or amniocentesis identifies approximately 60 percent of fetuses with this disorder. We used ultrasonography to detect increased nuchal translucency and cystic hygroma, which are characteristic features of fetuses with chromosomal defects. METHODS: We performed transvaginal ultrasonography in 10,010 unselected adolescents and women less than 40 years of age with live singleton fetuses at 10 to 15.9 weeks of gestation. Increased fetal nuchal translucency was defined as an area of translucency at least 3 mm in width, and cystic hygromas were defined as septated, fluid-filled sacs in the nuchal region. Subjects whose fetuses had these findings were offered fetal karyotyping. Information on pregnancies, deliveries, and neonates was subsequently obtained from hospital records and national birth and malformation registries. RESULTS: Nuchal translucency or cystic hygroma was seen in 76 fetuses (0.8 percent), of which 18 (24 percent) had an abnormal karyotype. The sensitivity for trisomies 21, 18, and 13 combined was 62 percent (13 of 21 fetuses), and the sensitivity for trisomy 21 alone was 54 percent (7 of 13 fetuses). CONCLUSIONS: The use of transvaginal ultrasonography to detect increased nuchal translucency and cystic hygroma is a sensitive test for fetal aneuploidy. It can be done earlier in pregnancy than serum screening, and it decreases the subsequent need for chorionic-villus sampling or amniocentesis.     

Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study

OBJECTIVES: To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation. DESIGN: Population based cohort study. SUBJECTS: 29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation. SETTING: Fetal medicine centre in London. MAIN OUTCOME MEASURE: Prevalence of major defects of the heart and great arteries. RESULTS: Of 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively. CONCLUSIONS: Measurement of fetal nuchal translucency thickness-traditionally used to identify fetuses at high risk of aneuploidy-at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries.     

Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population

The advantages and limitations of transvaginal (TV) sonography in detecting fetal anomalies in the 12th week of pregnancy were examined in a prospective screening study of an unselected population. During a 3-year period, 3991 examinations were performed and 35 fetuses were identified as having 43 anomalies (0.9 per cent). Most of these malformations were either severe structural disorders or isolated nuchal changes when karyotyping revealed chromosomal aberration in six cases. Twenty-one pregnancies were terminated and three fetuses died. Routine transabdominal (TA) ultrasonographic examinations were performed at 18 and 30 weeks in all those pregnancies where the TV scan had not found fetal anomalies. TA sonography identified 19 abnormal fetuses and ten cases remained undetected. TV sonography detected 51 per cent of malformed fetuses which were diagnosed prenatally (not including cases with nuchal oedema) and 41 per cent of the total were found in this study. Besides offering the possibility of early termination, first trimester screening has the advantage of identifying a transient sonographic sign, nuchal oedema, which can be used as a marker in screening for fetal chromosomal abnormalities. However, standard mid-second-trimester TA scanning is still recommended, since a significant number of malformations cannot be detected so early in pregnancy.     

Knowledge of stroke in Hong Kong Chinese

Cervical ribs were observed in six hydropic fetuses with 45X karyotype. To test the usefulness of this observation in the macerated hydropic fetus where chromosome culture is problematic, a group of 36 hydropic fetuses was examined. Cases were chosen to include fetuses with several karyotypic and pathological abnormalities known to be associated with fetal hydrops. Whole-body anteroposterior radiographs were evaluated without knowledge of the fetal karyotype or pathological findings. Twenty-five fetuses had an abnormal karyotype, seven had a normal karyotype and in four culture failed. In the last group, the number of X, 21 and 18 chromosomes per nucleus was estimated using FISH. Radiographic analysis demonstrated that among the 16 fetuses with 45,X karyotype or a single copy of X and female phenotype, 12 had a pair of cervical ribs. Three other fetuses had a single cervical rib. Only one fetus had no cervical ribs. The last fetus had tubular hypoplasia of the aortic arch and persistent mesocolon. Twelve of the sixteen 45,X fetuses had tubular hypoplasia of the aortic arch. Seven had other cardiovascular anomalies, five had renal anomalies, and five had anomalies of intestinal rotation. Cervical rib appears to be more common than other frequently recorded associations of 45,X. It is a useful and easily demonstrated mark in the evaluation of the macerated hydropic fetus.     

Detection of dysplastic lesions by fluorescence in a model of colitis in rats after previous photosensitization with 5-aminolaevulinic acid

Fetal nuchal translucency can be measured in most pregnant women in the first and early second trimester. The size of translucency varies slightly with gestational age and crown rump length and is independent of maternal age. Most authors have used a nuchal thickness of > or = 2.5 mm or > or = 3 mm to define abnormal, although some have suggested that the normal variation with gestation requires that different thresholds be used at different gestational ages. The accuracy of nuchal translucency measurement varies between examiners and between patients, likely in relation to examiner skill and image resolution. The small size of a nuchal translucency, less than 3 mm in most cases, probably approximates the threshold of normal interexaminer and intraexaminer variability. The presence of a thickened nuchal translucency is associated with chromosomal abnormality and perhaps with structural abnormality even when the karyotype is normal. Because of the reported variations in the populations studied, the methods used, and the results of screening, it is inappropriate at this time to assign a numeric risk to any individual patient with this finding. However, in both high-risk and low-risk groups, the positive predictive value appears to be high enough that patients with increased nuchal translucency should be counseled by their obstetrician and prenatal diagnostic testing should be offered. Because early genetic diagnosis by CVS has a substantially higher procedure-associated loss rate than amniocentesis in the second trimester, many patients may elect to wait for chromosomal testing. If so, disappearance of nuchal thickening should not be taken as reassurance. As a screening test to be widely applied to a general or low-risk population, the utility of fetal nuchal translucency measurement is uncertain. The reported sensitivity for identification of trisomy 21 has ranged from about 40% to 80%, and the sensitivity for identification of other aneuploidies may be lower than for Down's syndrome. From a cost-risk-benefit standpoint, universal first-trimester ultrasound screening has not been appropriately compared with standard risk assessment using maternal age and multiple-marker serum screening, with amniocentesis as the predominant diagnostic method. Also, the issues of availability and reimbursement have not been addressed. Currently, measurement of nuchal translucency is not a substitute for the standard of obstetrical care, which is to offer multiple-marker serum screening to every pregnant woman at 15 to 20 weeks. Similarly, it is inappropriate to substitute nuchal translucency measurement for genetic counseling and CVS or amniocentesis in women above 35 years of age or those with a significant positive history. Finally, the data are not clear as to whether a normal nuchal translucency decreases the likelihood of chromosomal abnormality in a high-risk population, and such women should not be discouraged from invasive testing because of a normal first-trimester ultrasound study. The data supporting the association between thickened nuchal transluency and chromosomal abnormality are compelling, but further study is needed before adopting routine nuchal translucency screening. Combining first-trimester ultrasonography with early serum screening is currently being investigated and may ultimately prove to be the most efficient means of screening for chromosomal anomaly.     

Screening for trisomy 21 by measuring nuchal translucency during the first trimester of pregnancy

The purpose of the present literature review is to assess the screening value of trisomy 21 by measurement of fetal nuchal translucency (NT) thickness in the first trimester. NT is a subcutaneous translucency between the skin and the soft tissues overlying the cervical spine, which disappears in the second trimester. Ultrasound examination was used to image a sagittal section of the fetus to measure the maximum thickness of the subcutaneous translucency. NT is physiological for a measurement < 3 mm but the incidence of chromosomal abnormalities (essentially trisomies 21, 18 and 13) increases when NT > or = 3 mm. Differential diagnoses include cystic hygroma and fetal hydrops. For screening purposes, a cut-off threshold value of > or = 3 mm, with a standardized technique, gave a sensitivity > or = 50%, a false positive rate < 5% and a positive predictive value > 1%. In the chromosomally normal group, prognosis was good, but incidence of structural defects and fetal loss increased, with a sharp rise in these complications for fetal translucency thickness > or = 5 mm.     

Prenatal diagnosis of fetal nuchal cystic hygroma in 22 cases

OBJECTIVE: To investigate the early diagnosis and prognosis of fetal nuchal cystic hygroma. METHODS: 72 cases of fetal nuchal cystic hygroma diagnosed in uterus were analyzed retrospectively. RESULTS: Most of the cases were diagnosed by B ultrasound between 15-26 gestational weeks. 55.9% the multipara had abnormal pregnant history, and 40% (4/10) of fetuses with karyotype performed had chrosome abnormality. Except for fetal deaths and induced abortions, 3 cases had term deliveries: one neonatal death, one was born with hygroma of 5.9 cm x 3.7 cm and transferred for surgery, and the other one with hygroma disappeared at the 37th week and baby was born at 40 week with normal appearance. CONCLUSIONS: This disease is one of common fetal morphological abnormalities. Few may recover spontaneously but most have poor outcomes.     

Clear cell sarcoma of the kidney relapsing after 10 years of asymptomatic evolution

In normal pregnancy, end-diastolic flow appears in the umbilical artery around the 13th week of gestation, with a velocity which increases progressively with advancing gestation. The detection of reversed flow in the umbilical artery, the highest expression of an increase in placental vascular resistance, is extremely uncommon in the first half of gestation and, in three of the four cases reported in the literature, there were chromosomal abnormalities. We report a new case of reversed end-diastolic flow in the umbilical artery in a 13-week fetus with increased nuchal translucency thickness, megacystis and tachycardia. Cytogenetic analysis of chorionic villi and amniocytes revealed trisomy 13. The findings provide further evidence for a possible association between reversed end-diastolic flow in the umbilical artery and chromosomal abnormalities. However, the effectiveness of this potential marker in an unselected population requires further evaluation.     

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This study investigates whether first-trimester screening for trisomy 21 by fetal nuchal translucency thickness preferentially identifies those fetuses destined to die in utero and examines the potential impact of such a method of screening on the live birth incidence of trisomy 21. In 70 pregnancies, trisomy 21 was diagnosed at 12 (range 11-14) weeks of gestation and the parents opted for elective termination which was carried out at 14 (12-20) weeks. In all cases, viability was established by ultrasound scan at the time of chorion villus sampling (CVS) and just before termination of pregnancy. Eight (11.4%) fetuses died in the interval between CVS and termination of pregnancy and this rate of lethality was higher than the 6.9% estimated rate for an unselected population of trisomy 21 fetuses. This 4.5% increase may, in part, be attributed to the effects of CVS and may also be due to patient selection on the basis of increased nuchal translucency. The rate of lethality increased with translucency thickness from 5.3% for those with translucency of 1-3 mm to 23.5% for translucency of > 7 mm. In trisomy 21, the rate of intrauterine lethality is associated with nuchal translucency thickness. Nevertheless, a policy of screening by maternal age and fetal nuchal translucency followed by selective termination of affected fetuses would still result in a more than 70% reduction in the live birth incidence of trisomy 21.     

The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21

OBJECTIVE: To test the efficacy of ultrasound in detecting fetuses with trisomy 21. METHODS: From November 1, 1992, to December 31, 1995, a second-trimester genetic sonogram was offered to all women with singleton fetuses at increased risk (at least 1:274) for trisomy 21, who had either declined genetic amniocentesis or chose to have a sonogram before deciding whether to undergo an amniocentesis. In addition to standard fetal biometry, the following ultrasound markers for aneuploidy were evaluated: structural anomalies (including face, hands, and cardiac [four-chamber view and outflow tracts]), short femur, short humerus, pyelectasis, nuchal fold thickening, echogenic bowel, choroid plexus cysts, hypoplastic middle phalanx of the fifth digit, wide space between the first and second toes, and two-vessel umbilical cord. Outcome information included the results of genetic amniocentesis, if performed, or the results of postnatal pediatric assessment and follow-up. RESULTS: Five hundred seventy-three patients had a genetic sonogram between 15 and 23 weeks' gestation: 378 patients had advanced maternal age (at least 35 years), 141 had abnormal serum biochemistry, and 54 had both. The majority (495, or 86.3%) had a normal genetic sonogram (absence of abnormal ultrasound markers); 51 (9%) had one marker present, and 27 (4.7%) had two or more markers present. Outcome was obtained on 422 patients (the remaining were ongoing pregnancies or were lost to follow-up). Twelve of 14 fetuses with trisomy 21, one fetus with trisomy 13, and one fetus with triploidy had two or more abnormal ultrasound markers present; one fetus with trisomy 21 had one abnormal marker and one had a completely normal ultrasound. When one or more abnormal ultrasound markers were present, the sensitivity, specificity, and positive and negative predictive values for trisomy 21 were 92.8%, 86.7%, 19.4%, and 99.7%, respectively. When two or more abnormal ultrasound markers were present, the corresponding values were 85.7%, 96.8%, 48%, and 99.5%. In the study population, the amniocentesis rate was 12.7% overall and 17.3% in cases with known outcome. CONCLUSION: Second-trimester genetic sonogram may be a reasonable alternative for patients at increased risk for fetal trisomy 21 who wish to avoid amniocentesis. In experienced hands, this approach may result in a high detection rate of trisomy 21 (93%), with an amniocentesis rate of less than 20%.     

Early prognostic ultrasonographic indices in pregnancy with fetal cystic hygroma

OBJECTIVE: Aim of this study was the correlation of same early ultrasonographic signs with fetal karyotype, prognosis of pregnancy and neonatal outcome. EXPERIMENTAL DESIGN: Volume of cystic hygroma and presence of septations are correlated with fetal karyotype and an ultrasonographic follow-up was carried out during pregnancy. Details concerning neonatal outcome were recorded at delivery. PATIENTS: Diagnosis was performed in 13 patients between 8.3 to 16.5 weeks' gestation referred to our center for prenatal diagnosis or for obstetric reasons. METHOD: Ultrasonographic examinations were performed using 5.0 and 6.0 MHz endovaginal convex probes. SURVEYS: Hygroma was diagnosed as a cystic dilatation in the nuchal region larger than 3 mm in diameter in the anterolateral aspects. The volume was calculated considering the lesion as spherical and using the standard formula for an ellipsoid volume; the presence of septations was considered. RESULTS: A volume greater than 70 cc3 and the presence of septations demonstrated a strictly correlation with fetal karyotype, evolution of the features, pregnancy and neonatal outcome. CONCLUSIONS: Prognosis varies depending on fetal karyotype, volume, presence of septations and other associated malformations. The volume of the hygroma and the presence of septa are associated with higher incidence of chromosomal diseases and a poorer fetal prognosis.     

Effect of routine screening for Down's syndrome on the significance of isolated fetal hydronephrosis

OBJECTIVE: To determine the risk of Down's syndrome in fetuses with isolated hydronephrosis at 18-23 weeks in an unselected general population after routine screening for Down's syndrome, using first trimester nuchal translucency measurement and second trimester maternal serum biochemistry. POPULATION: All pregnant women undergoing a routine 18-23 week ultrasound scan, from a population who had been offered screening for Down's syndrome. SETTING: A district general hospital serving a low risk obstetric population. METHODS: Prospective study of all routine 18-23 weeks ultrasound scans. The prevalence of isolated hydronephrosis and Down's syndrome was determined and the relative risk for Down's syndrome was calculated for different ultrasound findings. RESULTS: 10,971 women were scanned at 18-23 weeks during the study period. Down's syndrome was diagnosed in 14 of 20 cases before this stage using first trimester nuchal translucency measurement and second trimester maternal serum biochemistry. Isolated fetal hydronephrosis was diagnosed in 423 pregnancies (3.9%); none of these pregnancies were affected by Down's syndrome. The relative risk for Down's syndrome was 0.18 (95% CI 0.06-0.53) for women with a normal scan (n = 9983). When multiple ultrasound markers were found (n = 565), the relative risk for Down's syndrome was 2.00 (95% CI 0.18-22.10) and 9.00 (95% CI 1.14-71.30) for all other aneuploidies. CONCLUSION: The finding of isolated fetal hydronephrosis does not significantly increase the age-related risk for Down's syndrome. The presence of multiple ultrasound markers is associated with an increased risk of aneuploidies other than Down's syndiome. These findings are explained by the reduced prevalence of Down's syndrome as a result of prior screening and diagnosis of this condition.     

Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12-18 weeks and in a trisomy 16 mouse

An increase in the nuchal translucency that can be detected at 10-14 weeks of gestation by ultrasound forms the basis for a screening test for chromosomal abnormality. Several mechanisms leading to this increase in skin thickness have been proposed, including changes of the extracellular matrix, cardiac defects and abnormalities of the large vessels. This study examines the composition of the extracellular matrix of the skin in gestational age-matched fetuses with trisomy 21, 18 and 13 from 12-18 weeks. Immunohistochemistry was applied with monoclonal and polyclonal antibodies against collagen type I, III, IV, V and VI and against laminin and fibronectin. Collagen type VI gene expression was further studied by in situ hybridization to detect differences in expression patterns of COL6A1, COL6A3 and COL1A1 between normal fetuses and those with trisomy 21. The ultrastructure of tissue samples was studied by transmission electron microscopy (TEM) and additionally by immunogold TEM. Further, we examined the morphology of the skin in an animal model for Down's syndrome, the murine trisomy 16, by light and TEM. The dermis of trisomy 21 fetuses was richer in collagen type VI than that of normal fetuses and other trisomies, and COL6A1, located on chromosome 21, was expressed in a wider area than COL6A3, which is located on chromosome 2. Collagen type I was less abundant in the skin of trisomy 18 fetuses, while the skin of all three trisomies contained a dense network of collagen type III and V in comparison with normal fetuses. Collagen type IV, of which two genes are located on chromosome 13, was expressed in the basement membranes of the skin in all fetuses and additionally in the dermal fibroblasts only of trisomy 13 fetuses. Likewise, laminin was present in all basement membranes of normal and trisomic fetuses as well as in dermal fibroblasts of fetuses with trisomy 18. LAMA1 and LAMA3 genes are located on chromosome 18. Dermal cysts were found in the skin of trisomy 18 and 13, but not in trisomy 21 and normal fetuses. Ultrastructural findings showed that an extracellular precipitate containing glycosaminoglycans was regularly present in the skin of trisomy 21 fetuses and murine trisomy 16 embryos. In conclusion, this study suggests that the skin edema in fetal trisomies is characterized by specific alterations of the extracellular matrix that may be attributed to gene dosage effects as a result of a genetic imbalance due to the condition of fetal trisomy.     

Information on the 5th meeting of the European Tick Study Group]

There is a strong association between prenatally diagnosed structural heart disease and fetal chromosomal abnormalities. Isomerism of the atrial appendages is an exception to this because the fetal karyotype is usually normal in this condition. A case of atrial isomerism diagnosed antenatally with a normal female karyotype but with a microdeletion of chromosome 22q11 is reported.     

Transient increase in nuchal translucency thickness and reversed end-diastolic ductus venosus flow in a fetus with trisomy 18

In a twin pregnancy discordant for trisomy 18, the affected fetus at 13 weeks' gestation had an increased nuchal translucency thickness and reversed end-diastolic ductus venosus flow. At 20 weeks' gestation there was no nuchal edema and Doppler study of the central venous vessels demonstrated normal waveforms. The findings support the hypothesis that one of the mechanisms in the development of increased nuchal translucency is temporary cardiac strain.     

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The aim of this study was to determine the etiology, associated anomalies and outcome of fetuses with postural deformities and contractures of the upper extremities detected sonographically. Fifty-four fetuses with sonographically detected postural anomalies of the upper extremities were identified from our database. Sonographic findings and associated anomalies were tabulated on the basis of the original sonogram. Perinatal follow-up and/or karyotype were available in 52 cases from a review of the maternal and newborn medical records and pathology reports. Of the 52 fetuses with sonographically detected anomalies of the upper extremities, 44 (85%) were non-survivors and eight (15%) were survivors. Forty-three fetuses had associated sonographic abnormalities. Karyotyping performed in 44 cases revealed 26 cases (59%) of aneuploidy, with trisomy 18 accounting for 23/26 (88%). In the setting of a normal karyotype, a variety of genetic disorders were found, including syndromes involving the fetal dyskinesia/akinesia sequence. Disturbances in amniotic fluid occurred in 48% of the cases (24 fetuses with polyhydramnios and one with oligohydramnios). In conclusion, the sonographic detection of postural abnormalities of the upper extremities carries a guarded prognosis, with survival in 15% of fetuses and a high incidence of chromosomal defects.