Body stalk anomaly associated with maternal cocaine abuse

A case of body stalk anomaly diagnosed prenatally by ultrasound during the 24th week of pregnancy in a cocaine abusing mother is presented. Accurate visualization of the fetal organs was difficult due to the severe oligohydramnios caused by premature rupture of membranes, probably related to the cocaine use. The sonographic findings were an omphalocoele, fetal attachment to the placenta, kyphoscoliosis, and absence of a floating umbilical cord. The prenatal diagnosis of the syndrome and the possible relationship with cocaine abuse are discussed.     

Gastroschisis: sonographic diagnosis,associations, management and outcome

Gastroschisis is a defect in the abdominal wall, typically on the right side of a normally inserted umbilical cord through which bowel and other abdominal contents herniate. Classically, no membrane covers the herniated abdominal contents, which distinguishes the defect from exomphalos, an important differential diagnosis. Gastroschisis is usually diagnosed prenatally using ultrasound examination. The prevalence is increasing worldwide from approximately 0.1 per 10 000 total births in the 1970s to over 5 in the early 2000s. The reasons for this are unknown, but factors such as maternal smoking, recreational drugs and young maternal age are strongly associated with the defect. The increasing prevalence is causing concern because the cost of treating gastroschisis is high. Neonatal morbidity depends on significant complicating factors such as bowel atresia or necrosis and prolonged post-operative ileus. Foetuses with gastroschisis are more likely to be born premature and with intra-uterine growth restriction, both of which contribute to the morbidity. Gastroschisis requires early surgery after birth, often followed by prolonged neonatal care. However, advances in surgical and post-operative care in the last decade have meant that currently 90% of affected neonates survive, with few long-term problems. Copyright © 2008 John Wiley & Sons, Ltd.     

A quantitative estimation of the effect of prenatal diagnosis in dizygotic twin pregnancies in women of advanced maternal age

Genetic counselling in a dizygotic twin pregnancy is complicated by the large number of possible pregnancy outcomes and by the conceivable differences in the parental valuation of these outcomes. We present the probability distributions of the pregnancy outcomes in dizygotic twin pregnancies for women from 35 to 45 years old without prenatal diagnosis and with transabdominal chorionic villus sampling (TA-CVS) or amniocentesis (AC), using data from the literature. TA-CVS always gives a higher probability of a favourable pregnancy outcome (the birth of one or two infants with a normal karyotype) than AC. For a 35-year-old woman, a 0·7 per cent risk of an unfavourable pregnancy outcome without prenatal diagnosis has to be weighed against the 2·1 per cent excess risk of loss of the entire pregnancy after TA-CVS. For a 45-year-old woman, a 10·2 per cent risk of an unfavourable pregnancy outcome without TA-CVS has to be balanced against a 4·4 per cent excess risk of pregnancy loss after TA-CVS. This study provides a quantitative tool for the support of individual parents with respect to the decision to undergo prenatal diagnosis in a dizygotic twin pregnancy.     

Prenatal diagnosis and management of anterior abdominal wall defects in the West of Scotland

An attempt was made to identify all the cases of abdominal wall defects occurring in the West of Scotland over a 7-year period to determine the current incidence, prenatal diagnosis, management, and prognosis for fetuses and neonates with abdominal wall defects. Cases were identified because they presented either for prenatal diagnosis, or to the Department of Pathology following termination or spontaneous pregnancy loss, or as neonates to the Neonatal Surgical Department. The incidence of abdominal wall defects was found to be 1 in 2500 births. Exomphalos was diagnosed before birth in 66 per cent of cases, and in 30 per cent of cases it was associated with another major abnormality. There was a 20 per cent intact survival in the cases diagnosed prenatally who had no fetal anomaly and who opted to continue with the pregnancy. Gastroschisis was diagnosed before delivery in 70 per cent of cases, and in the group who continued with the pregnancy there was an intact survival of 77 per cent. Body stalk anomalies were all diagnosed prenatally and terminated. Maternal serum alpha-fetoprotein was elevated in 89 per cent of the cases with exomphalos and in 100 per cent of the cases with gastroschisis and body stalk anomalies in which it was tested.     

Acardiac anomaly: current issues in prenatal assessment and treatment

Acardiac anomaly is a rare condition affecting monochorionic multiple pregnancies. We review this condition with emphasis on its prenatal diagnostic features and treatment options. Due to the parasitic hemodynamic dependence of the acardiac twin on the pump twin, it is important to monitor the pump twin for signs of decompensation and, if indicated, intervene by interrupting vascular supply to the acardiac twin. The goal of treatment is to maximize the pump-twin's chance of survival. To assist with the decision of when to treat, we suggest a new classification system based on prognostic factors, specifically the size and growth of the acardiac twin and the cardiovascular condition of the pump twin. When the acardiac twin is small and no signs of cardiovascular impairment in the pump twin are present, we suggest serial ultrasound surveillance to detect any worsening of the condition. In cases with a large acardiac twin or rapid growth of the acardiac mass, we recommend prompt intervention. Once treatment is indicated, the intrafetal approach to interrupt the vascular supply to the acardiac twin appears to be superior to cord occlusion techniques as it is simpler, safer and more effective. The first line of treatment, if available, should be ultrasound-guided laser coagulation or radiofrequency ablation of the intrafetal vessels. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation

We report the prenatal diagnosis of an extra der(4) resulting from 4:2 malsegregation of a maternal balanced complex translocation involving chromosomes 4, 10, and 11. The woman was referred for amniocentesis because of recurrent miscarriages. Fluorescence in situ hybridization was performed in order to characterize the complex chromosome rearrangement. Following genetic counselling, the couple decided to terminate the pregnancy. Copyright © 2004 John Wiley & Sons, Ltd.     

Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy

We report a case of maternal mosaic trisomy 21 ascertained at prenatal diagnosis as a result of maternal cell contamination of an amniotic fluid sample. A 34 year old female was referred for karyotyping because of a previous trisomy 21 pregnancy. Chromosome analysis of primary in situ cultures showed a karyotype of 47,XX, + 21[6]/46,XY[32]/46,XX[2]. Molecular testing demonstrated maternal cell contamination of the amniotic fluid sample and G-banded karyotyping of maternal blood showed that 3/200 cells had trisomy 21, consistent with the mother being a Down syndrome mosaic. A normal male baby with a 46,XY chromosome complement was delivered at 30 weeks. This case emphasises the need for close collaboration between cytogenetic and molecular genetics laboratories in resolving unusual cases of mosaicism. Copyright © 2007 John Wiley & Sons, Ltd.     

Association between prenatal sonographic findings and post-natal outcomes in 30 cases of isolated spina bifida aperta

This study presents 30 cases of fetal isolated spina bifida aperta (SBA) to identify prenatal ultrasound findings that could predict the prognosis. Comparisons between surviving patients who had normal (group 1) and abnormal (group 2) post-natal neurological outcomes were made for three different prenatal signs, that is, site of vertebral lesion, presence and degree of ventriculomegaly and presence of talipes. The site of the lesion was the most significant outcome predictor, as high spinal dysraphisms were observed in 2 patients (2/7–28.6%) in group 1 and in 15 patients (15/19–79.0%) in group 2 (p = 0.03). The presence of fetal ventriculomegaly was associated with impaired post-natal neurological development, as it occurred in 4 patients (4/7–57.1%) in group 1 and in 18 patients (18/19–94.7%) in group 2 (p = 0.04). The presence of talipes did not significantly differ between the two groups. Patients with abnormal intellectual outcome (8/26–30.8%) had significantly greater (p = 0.018) lateral ventricle/hemisphere ratios (mean = 0.74, standard deviation = 0.13) than those with normal intellectual development (mean = 0.54, standard deviation = 0.18). Mean post-natal follow-up was at 23 months (standard deviation = 15 months). Copyright © 2003 John Wiley & Sons, Ltd.