A retrospective study on the course and outcome of fetal ventriculomegaly

AbstractObjectiveTo evaluate the outcomes associated with fetal ventriculomegaly.Materials and methodsReports of women who underwent ultrasound scanning between 18 and 36 weeks of gestation during the period from January 1, 2000, to December 31, 2010, were reviewed. According to the defined severity of ventriculomegaly of affected fetuses, the women were divided into the following groups: (1) mild ventriculomegaly (Group A); (2) moderate ventriculomegaly (Group B); and (3) severe ventriculomegaly (Group C). The women were classified into the “gray zone” group if the fetal lateral ventricle measured between 7 mm and <10 mm. All cases were followed up with additional ultrasound scans. Postnatal information was obtained from the computer database or the medical charts.ResultsA total of 41 cases were recruited for this analysis. Four (9.8%) cases had an abnormal karyotype. Twelve women (29.3%) opted for termination of pregnancy. Of the 29 women who delivered, 56.1% (N = 23) were from Group A, 14.6% (N = 6) were from Group B, and none was from Group C. All children in Group A had normal neurological development. Three children in Group B had normal neurological development, whereas the other three had neurologic deficits. A total of 432 cases were classified into the “gray zone” group. Of these cases, 2.8% (N = 12) progressed to ventriculomegaly.ConclusionCases of isolated and mild ventriculomegaly without additional structural anomalies or chromosomal aberrations had good prognoses. However, the parents of fetuses with moderate or severe ventriculomegaly should be counseled regarding related risks. If the ventricular size of the fetus falls within the “gray zone”, at least one additional exam in the third trimester should be performed, for early detection of ventriculomegaly and other related abnormalities. It is important to make the parents of these fetuses aware of these risks, from a medico-legal point of view

First- and Second-trimester Down Syndrome Screening: Current Strategies and Clinical Guidelines

SummaryDown syndrome (DS) is the most common human disease caused by a structural chromosome defect. The original screening test for DS was maternal age or a history of a previously affected infant. Maternal serum screening has been incorporated into routine prenatal checkup in Taiwan since 1994. We used free β-human chorionic gonadotropin and α-fetoprotein (double test) as the serum markers, and this was carried out between the 15 to 20th week of gestation. The overall detection rate was 56% and was compatible with studies of Caucasian populations. The impact of double tests in Taiwan has shown itself by a dramatic lowering of the rate of DS live birth from 0.63 before screening to 0.16 per 1,000 live births at present. However, because of its relatively low detection rate and poor cost-effectiveness, the double test is not justified as a routine screening tool currently. First-trimester combined test is now becoming more widely available and provides increased sensitivity when detecting DS; it has a detection rate of approximately 85% with a false-positive rate of 5%. Nuchal translucency measurement requires ongoing quality control and sufficient certificated obstetricians; therefore, first-trimester ultrasound is limited only in designated centers. The quadruple test, having comparable detection rate, should be considered for incorporation into second-trimester screening in Taiwan in the near future. Other screening approaches and combinations have also been utilized in the Western countries. In this review, we outline the various options with respect to DS screening and hope that this will provide practical information for physicians offering such screenings. [Taiwan J Obstet Cynecol 2008;47(2):157-1 62