Premium
Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel
Author(s) -
Shohat Mordechai,
Akstein Edna,
Davidov Bella,
Barkai Gad,
Legum Cyril,
David Miriam,
Dar Hanna,
Romem Yitzhak,
Amiel Aliza,
Cohen Hana,
Bach Gideon,
BenNeriah Ziva,
Sheffer Ruth N.,
Appelman Zvi,
Chemke Juan,
Zadka Pnina,
Zer Tamy,
Goldman Boleslaw
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970151012
Subject(s) - amniocentesis , down syndrome , medicine , prenatal diagnosis , obstetrics , triple test , genetic counseling , population , prenatal screening , pregnancy , gynecology , incidence (geometry) , advanced maternal age , fetus , genetics , biology , psychiatry , physics , environmental health , optics
We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There 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 paralleled 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 counselling, had a significantly lower detection rate (1:917) compared with that of the genetic institutes, which following genetic counselling test both women ≥ 37 years of age (1:91) and women younger than 37 years (1:113). The detection of chromosomal anomalies other than DS was less affected by the reason for amniocentesis. Amniocentesis indicated by maternal serum marker screening of women younger than 37 years identified a greater number of chromosomal anomalies other than DS than amniocentesis based on age (≥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 screening leads to a significant improvement in the positive detection rate of chromosomal anomalies other than DS in young women.