Prenatal diagnosis in the Netherlands, 1991-2000: Number of invasive procedures, indications, abnormal results and terminations of pregnancy

Objective To provide an overview of invasive prenatal diagnosis in the Netherlands and to analyse trends. Methods Annual results from all centres for invasive prenatal diagnosis in the Netherlands over the period 1991-2000 were combined and described, with particular emphasis on indications, abnormal results, type of invasive procedures, and terminations of pregnancy. Results The percentage of invasive prenatal diagnosis increased from 5% of births in 1991 to 6% in 1996 and subsequently remained at that level. During the study period, the number of pregnant women aged 36 and older increased by 70%, but the number of procedures performed because of maternal age remained stable. The detection rate for abnormal results was 2-3% for maternal age and rose from 9 to 13% for other indications. Other trends during the study period included a relative decrease in cordocentesis (-82%) and chorionic villi biopsy (-18%) in favour of amniocentesis (+48%), and a strong decrease in the number of amniocentesis procedures for increased risk of neural tube defect. In 71% of the cases with abnormal results, the pregnancy was terminated. Conclusion There was a significant decrease in the percentage of pregnant women aged 36 or older who underwent invasive prenatal diagnosis without previous screening. Copyright (C) 2007 John Wiley & Sons, Lt

Amniocentesis before 14 completed weeks as an alternative to transabdominal chorionic villus sampling:A controlled trial with infant follow-up

A (semi-) randomized controlled study with long-term follow-up was conducted to compare the effects of transabdominal chorionic villus sampling and early amniocentesis on fetal mortality and child morbidity. Women requesting early prenatal diagnosis for advanced maternal age were allocated to early amniocentesis or transabdominal chorionic villus sampling either by randomization or, if they declined randomization, by their own choice. Of the 212 women who entered the study, 117 were randomized, 70 chose early amniocentesis and 25 chose transabdominal chorionic villus sampling. Overall, 130 women underwent early amniocentesis and 74 underwent transabdominal chorionic villus sampling at a median gestation of 12 weeks. Two women were excluded because of fetal death before the procedure. Mosaic karyotypes were found in 5.4 per cent of the early amniocenteses and in none of the chorionic villus samples. All unintended fetal losses occurred after early amniocentesis with a frequency of 6.2 per cent (95 per cent confidence interval: 2.7 per cent to 11.8 per cent). Talipes equinovarus was only observed after early amniocentesis with a frequency of 3.1 per cent (95 per cent confidence interval: 0.8 per cent to 7.7 per cent). We conclude that chorionic villus sampling remains the method of choice if prenatal diagnosis is needed in the first trimester of pregnancy. (C) 1998 John Wiley & Sons, Ltd

Hypothesis acardiac twin pregnancies: Pathophysiology-based hypotheses suggest risk prediction by pump/acardiac umbilical venous diameter ratios

Item does not contain fulltextBACKGROUND: A total of 75% of monozygotic twins share 1 monochorionic placenta where placental anastomoses cause several serious complications, for example, acardiac twinning. Acardiac twins lack cardiac function but grow by perfusion of arterial blood from the pump twin. This rare pregnancy has 50% natural pump twin mortality but accurate risk prediction is currently impossible. Recent guidelines suggest prophylactic surgery before 18 weeks, suggesting 50% unnecessary interventions. We hypothesize that (1) adverse pump twin outcome relates to easy-to-measure pump/acardiac umbilical venous diameter (UVD) ratios, representing acardiac perfusion by the pump's excess cardiac output. This hypothesis suggests that (2) UVD-ratios are large, mildly varying in cases without complications but small and decreasing when complications develop, thus predicting that (3) UVD-ratios may allow risk prediction of pump twins. In this exploratory clinical pilot, we tested whether UVD-ratio measurements support these predictions. METHODS: We included 7 uncomplicated (expectant management), 3 elective surgical, and 17 complicated cases (pump decompensation, emergency intervention/delivery or demise). Nine UVD-ratios were measured sonographycally and 18 by pathology. RESULTS: Uncomplicated cases have larger, two serial measurements showing mildly varying UVD-ratios; elective surgical cases show larger UVD-ratios; complicated cases have smaller, two serial measurements showing decreasing UVD-ratios. There were no false-positives, no false-negatives and noncrossing linear trendlines of uncomplicated and complicated cohorts. CONCLUSION: Our data provide first evidence that UVD-ratios allow risk prediction of pump twins. More early uncomplicated and late complicated cases are needed, for example, in a prospective trial, before the separation between uncomplicated and complicated cohorts is accurate enough to support a well-founded decision on (early) intervention. Birth Defects Research (Part A) 106:114-121, 2016. (c) 2015 Wiley Periodicals, Inc