M. Shohat et al., AMNIOCENTESIS RATE AND THE DETECTION OF DOWN-SYNDROME AND OTHER CHROMOSOMAL-ANOMALIES IN ISRAEL, Prenatal diagnosis, 15(10), 1995, pp. 967-970
We investigated the contribution of different screening criteria to th
e prenatal detection of Down syndrome (DS) as well as other chromosoma
l anomalies in the Jewish population in Israel during 1990 and 1992. T
here was a significant decrease (P<0 . 03) in the incidence of DS live
-births during 1992 (40:78 442) compared with 1990 (69:73 751) which p
aralleled a marked increase in total prenatal testing and in DS cases
detected prenatally. Private laboratories, which perform amniocenteses
mostly for women with a low risk of DS and without genetic counsellin
g, had a significantly lower detection rate (1:917) compared with that
of the genetic institutes, which following genetic counselling test b
oth women greater than or equal to 37 years of age (1:91) and women yo
unger than 37 years (1:113). The detection of chromosomal anomalies ot
her than DS was less affected by the reason for amniocentesis. Amnioce
ntesis indicated by maternal serum marker screening of women younger t
han 37 years identified a greater number of chromosomal anomalies othe
r than DS than amniocentesis based on age (greater than or equal to 37
years) alone (111:9604 versus 94:9810; P<0 . 06). Prenatal detection
of DS is most effective when the indication for amniocentesis follows
genetic counselling. The increasing use of maternal serum marker scree
ning leads to a significant improvement in the positive detection rate
of chromosomal anomalies other than DS in young women.