Evaluation of routine prenatal diagnosis by a registry of congenital anomalies

Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12 , 263–270, 1992), considering the period 1979–1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentatge of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).     

对化学品登记要求的数据解释：皮肤致敏重复染毒及致变

本文对化学品登记所要求的部分健康效应数据——皮肤致敏、重复经口染毒、致变做了解释.涉及到的测试参数包括:皮肤致敏、重复(14/28天)经口啮动物毒性、基因突变、染色体畸变和DMA效应.     

Ultrasound movement patterns of fetuses with chromosome anomalies

Fetal movements were examined by ultrasound in 24 pregnancies in which an abnormal karyotype was detected in fetal cells and compared to ultrasound fetal movement patterns in normal pregnancies. The main features in fetuses with chromosome anomalies observed at 18–20 weeks of gestation are the persistence of global, jerky movements with twitches usually seen at 13–14 weeks of gestation in normal fetuses. This fetal motor behaviour is inconstant in trisomy 21. In trisomy 18 the hand deformities are easily detected.     

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.     

Syndromic associations with congenital anomalies of the fetal thorax and abdomen

Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this article, we describe conditions where other features may be detectable using prenatal ultrasound. We describe the features, potential diagnostic aids and prognosis. The tables list other potential features that may be identified. The range of conditions that can occur emphasises the value of genetic input in the management of a fetus with an apparently normal karyotype and multiple anomalies, the need to save material for future molecular analysis and the requirement of a detailed examination after delivery. These are needed in order to make accurate diagnoses and advise parents with regard to recurrence risks and the potential for prenatal diagnosis in future pregnancies. Copyright © 2008 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation

A mother who had given birth to a child with Schwartz–Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz–Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures.