Prediction of an abnormal karyotype in fetuses with omphalocele

The aim of this study was to assess the value of ultrasonographic evaluation in predicting abnormal karyotypes in fetuses with omphalocele. Forty fetuses with antenatally diagnosed omphalocele and available karyotype results were reviewed. Ultrasound evaluation included herniation contents and size, and the detection of other anomalies. Nine of 40 consecutive fetuses had abnormal karyotypes: trisomy 18 (n = 5), trisomy 13 (n = 3), 47,XXX (n = 1). Only 1/25 with an extracorporeal liver versus 8/15 with an intracorporeal liver had abnormal chromosomes [P = 0·0006, RR = 0·14 (0·02 < RR <0·9)]. Small defects (<3 cm) were associated with abnormal karyotypes [P = 0·01, RR = 4·7 (1·4<RR <15·6)]. Finding concurrent malformations was highly associated with chromosomal anomalies [P = 0·00004, RR = 4·4 (2·3 < RR < 8·5)]. The presence of associated malformations, an intracorporeal liver, and a small herniation size are highly suggestive of an associated abnormal karyotype.     

Simulated weightlessness for the ontogenesis of the otolith organ

The Science of Nature -     

Ultrasonic detection of an abnormal mass in a fetus later shown to have trisomy 18

Ultrasonic examination in a thirty-eight year old woman about to undergo midtrimester amniocentesis suggested an intra-abdominal fetal mass confirmed by amniography. The mass was a grossly distended urinary bladder. The patient aborted spontaneously before chromosome analysis demonstrated a 47,XY, + 18 karyotype.     

Second-trimester unconjugated oestriol levels in maternal serum from chromosomally abnormal pregnancies using an optimized assay

Second-trimester unconjugated oestriol (UE3) levels were measured retrospectively in maternal serum from 78 chromosomally abnormal pregnancies and 390 matched controls using a radioimmunoassay kit (Amersham AMERLEX-M) optimized for use in the second trimester. Reduced levels of UE3 were found in a group of 49 Down's syndrome pregnancies with a median UE3 level of 0·79 multiples of the median (MOM) of the controls. Four trisomy 18 pregnancies had UE3 levels less than 0·7 MOM. There was a highly significant level of correlation between alpha-fetoprotein (AFP) and UE3 levels in the controls (r = 0·25, P <0·01), the Down's syndrome pregnancies (r = 0·44, p 0·01), and the other chromosome abnormalities (r = 0·61, p0·01). When used as an additional marker to AFP and human chorionic gonadotrophin in screening for Down's syndrome, UE3 does not appear to add to the sensitivity of such screening.     

Normal and abnormal fetal cardiac anatomy

The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology, many of which were previously difficult to understand since they were overly simplistic or purely observational. We then lead on to the structure and growth of the fully formed fetal heart where we review the anatomy and ultrasound appearances in detail and provide comparisons with major abnormalities. We emphasise the fact that a solid understanding of cardiac anatomy can enable those involved in fetal medicine to make full use of the views of the heart that are obtained by ultrasound and which are often only transient. Copyright © 2004 John Wiley & Sons, Ltd.     

Relative risk of abnormal karyotype in fetuses found to have an atrioventricular septal defect (AVSD) on fetal echocardiography

One hundred and twenty-five fetuses were identified as having an AVSD with normal venous connections, normal arterial connections and normal cardiac situs on fetal echocardiography. Fetal karyotype was known in 111 of these cases. The relative risk of fetal trisomy 21 at mid-trimester was 107 (95% CI 87–127) times the expected number of cases compared with risk from maternal age alone, and that for trisomy 21,18 or 13 was 95 (95% CI 79–109). This data may be useful in counselling pregnant women about risk of fetal karyotypic abnormality after a diagnosis of fetal AVSD. Copyright © 2005 John Wiley & Sons, Ltd.     

Normal and abnormal development of the urogenital tract

An understanding of the normal development of the urogenital tract, at both the structural and molecular level, gives an insight into the mechanisms involved in renal pathology. In this review we will outline embryology of normal and abnormal renal development and discuss the function of some of the key regulatory molecules which have been described recently. Copyright © 2001 John Wiley & Sons, Ltd.     

Blood transferrin receptor expression in chromosomally abnormal fetuses

In a cross-sectional study of 13 chromosomally abnormal fetuses, umbilical venous blood was obtained by cordocentesis at 17–32 weeks' gestation. Fetal blood transferrin receptor (CD71) expression (mean=79·8 per cent, range=60–98 per cent) and nucleated red cell count (mean=10·4 × 10⁹ per 1, range=1·0–25·0 × 10⁹ per 1) were significantly higher than the appropriate normal mean for gestation (z=3·92, P<0·0001 and z=3·69, P<0·001, respectively). These haematological changes in chromosomally abnormal fetuses would facilitate their prenatal diagnosis by analysis of fetal nucleated red blood cells isolated from the maternal circulation on the basis of CD71 expression.     

摄入负载镉生物炭对斑马鱼的异常行为分析

为了评估生物炭对镉的固定能力,以负载镉生物炭为研究对象,构建大型水蚤(Daphnia magna)-斑马鱼(Zebrafish)的简单食物链,试验周期包括14 d的积累期和7 d的净化期.通过描述鱼群实验(Shoaling)、社会偏好实验(Social Preference)行为变化及斑马鱼中镉的富集量来评估负载镉生物炭的生物毒性.结果表明,在积累期摄入负载镉生物炭会显著抑制斑马鱼的运动能力,而摄入未负载镉生物炭对斑马鱼的活动无明显影响.摄入负载镉生物炭也导致群体偏好显著降低,表现为斑马鱼在社会区域内停留的时间变短,鱼群之间的距离增大.净化期中,斑马鱼的运动能力得到显著提升,同时表现出群聚性的特征.此外,斑马鱼肠道内的镉含量与其行为表现呈显著相关性.生物炭的固定作用和排泄导致不同剂量组斑马鱼肠道内的镉含量相近并缓解了镉在斑马鱼身体内的迁移.本研究揭示负载镉生物炭会破坏斑马鱼的社会行为,但生物炭的固定能力能缓解这种异常变化.     

Prenatal diagnosis of a small supernumerary,XIST-negative,mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus

Marker or ring X [r(X)] chromosomes of varying size are often found in patients with Turner syndrome. Patients with very small r(X) chromosomes that did not include the X-inactivation locus (XIST) have been described with a more severe phenotype. Small r(X) chromosomes are rare in males and there are only five previous reports of such cases. We report the identification of a small supernumerary X chromosome in an abnormal male fetus. Cytogenetic analysis from chorionic villus sampling was performed because of fetal nuchal translucency thickness and it showed mosaicism 46,XY/47,XY,+r(X)/48,XY,+r(X),+r(X). Fluorescence in situ hybridizations (FISH) showed the marker to be of X-chromosome origin and not to contain the XIST locus. Additional specific probes showed that the r(X) included a euchromatic region in proximal Xq. At 20 weeks gestation, a second ultrasound examination revealed cerebral abnormalities. After genetic counselling, the pregnancy was terminated. The fetus we describe is the first male with a mosaic XIST-negative r(X) chromosome identified at prenatal diagnosis. The phenotype we observed was probably the result of functional disomy of the genes in the r(X) chromosome, secondary to loss of the XIST locus. Copyright © 2003 John Wiley & Sons, Ltd.     

Identification of abnormal chromosomal complement in formalin-fixed,paraffin-embedded placental tissue

The objective of this project was to assess the efficacy of fluorescence in situ hybridization (FISH) with chromosome-specific DNA probes to identify chromosome number in formalin-fixed, paraffin-embedded placental specimens. Using this approach, 75 per cent of the karyotypes in 20 formalin-fixed placental samples (comprising aneuploids, triploids, and normals) were correctly identified. As this technology improves, the ability to obtain information regarding chromosomal abnormalities in formalin-fixed, paraffin-embedded placental tissue should improve as well. This technology can potentially provide important cytogenetic information even when fresh tissue is not available for standard karyotypic analysis.     

Low-dose aspirin for prevention of adverse outcomes related to abnormal placentation

Meta-analysis of randomized studies on the use of low-dose aspirin in women at high risk of preeclampsia (PE) has demonstrated that if treatment is initiated at ≤16 weeks' gestation, there is significant reduction in the risk of PE [relative risk (RR) 0.47, 95% confidence interval (CI) 0.36–0.62], fetal growth restriction (RR 0.46, 95% CI 0.33–0.64), preterm birth (RR 0.35, 95% CI 0.22–0.57) and perinatal death (RR 0.41, 95% CI 0.19–0.92), whereas the effect of treatment after 16 weeks is substantially less (RR 0.78, 95% CI 0.61–0.99; RR 0.98, 95% CI 0.88–1.08; RR 0.90, 95% CI 0.83–0.97; and RR 0.93, 95% CI 0.73–1.19, respectively). Moreover, the decrease in the risk of PE from early onset treatment seems to be related to the dose of aspirin, and a dose of >80 mg daily should be considered for optimal benefits. © 2014 John Wiley & Sons, Ltd.     

Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turnersyndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18=77.5 per cent).