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Measurement of maternal serum alphafetoprotein (ms AFP), human chorionic gonadotrophin (ms hCG), and unconjugated oestriol (u[E.sub.3]) at the beginning of the second trimester of pregnancy is a well established screening test for Down syndrome (trisomy 21). Previous studies have described the association of abnormal levels of ms AFP and ms hCG with a variety of problems and complications of pregnancy, such as preterm delivery, fetal growth retardation, and fetal death, [1-5] and severe hypertensive disorders in pregnancy. [6-10]
Over the past years, we have noted in the genetic clinic that several children with syndromic and non-syndromic forms of MCA-MR were born after a pregnancy with a positive maternal serum triple screening test and a normal prenatal karyotype.
Therefore, we decided to perform the present study and collected data on the pregnancy outcome and the physical and psychomotor development of 868 children born after second trimester amniocentesis for positive maternal serum triple screening test with a normal prenatal karyotype. We found a significantly increased incidence of complex multiple congenital anomalies syndromes (17, 1.95%) in the children.
Material and methods
During the period from 1 January 1993 to 31 December 1995, 995 women had amniotic fluid analysed for aneuploidy based on a positive maternal serum triple test (trisomy 21 [greater than or equal to] 1/250). These samples were analysed at the Leuven Centre for Human Genetics and showed normal chromosome results and normal amniotic fluid AFP.
Maternal serum triple tests and amniocenteses were performed in different centres. In October 1998, a questionnaire (available on request) was mailed to the 995 women with a list of questions about the outcome of pregnancy, the perinatal history, and the physical and psychomotor development of their children.
A total of 870 patients (87.5%) answered the questionnaire. They gave birth to 868 children (864 singletons, six twin pregnancies, four spontaneous abortions, and four intrauterine deaths). Further medical information was also obtained from the relevant obstetricians and paediatricians. All children with a major congenital malformation, as an isolated finding or as part of a multiple congenital malformation (MCA) syndrome or sequence, were examined by the same clinical geneticist (JPF) and/or the same fetal pathologist (PM).
Isolated (minor and major) congenital anomalies were present in …