In a previous retrospective study on the physical and psychomotor development of 868 children born after positive maternal serum triple test screening with normal prenatal karyotype, we found an increased incidence of complex multiple congenital anomalies syndromes (1.95%). In the present retrospective study, we collected data on 1799 children born after a pregnancy with a positive maternal ser...

In current screening test for Down’s syndrome (namely maternal serum alpha-fetoprotein-AFPhuman chronic gonadotropinhCG-, unconjugated estriol plus maternal age) an elevated level of hCG is an important predictor of fetal aneuploidy (1). The positive predictive value of the multiple marker screening test is approximately 4.3% (2). Besides Down’s syndrome, triploidy, trophoblastic diseases, and ...

BACKGROUND In 1968 the first antenatal diagnosis of Down's syndrome was made and screening on the basis of selecting women of advanced maternal age for amniocentesis was gradually introduced into medical practice. In 1983 it was shown that low maternal serum alpha fetoprotein (AFP) was associated with Down's syndrome. Later, raised maternal serum human chorionic gonadotrophin (hCG), and low unc...

The use of maternal age alone to identify pregnant mothers at risk of a fetus with Down's syndrome has recently been supplemented by maternal serum screening using biochemical markers such as alpha-protein, human chorionic gonadotrophin and oestriol. These tests have been reported to increase the sensitivity of antenatal detection of such fetuses from 35% to 67% with a false positive rate of 5%...

Prenatal diagnosis of chromosomal aneuploidies is the most frequent prenatal test offered to pregnant women. In most cases, they are recommended in the following circumstances: maternal age of 35 years or above; positive firstor second-trimester screening test results, and increased risk of fetal aneuploidies due to family history. During the first trimester, screening tests include: nuchal tra...

OBJECTIVES Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give more insight into the decision for or against prenatal screening through nuchal...

OBJECTIVE To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-in...

OBJECTIVE To examine whether in pregnancies with fetal trisomy 21 the level of maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 + 0 to 13 + 6 weeks' gestation is independent of the presence or absence of tricuspid regurgitation and to estimate the performance of a screening test that combines tricuspid regurgitation with f...

Aims: This study aimed to evaluate the most effective approach screening of trisomy 21 in the first trimester in Vietnam Method: A prospective study carried out during 1 year. All pregnancies screened the risk of trisomy 21 by association of the fetal nuchal translucency, maternal age and biochemical serum (free β-hCG and PAPP-A) as a combined test in the first trimester. The amniocentesis was ...