A. KARIMI-NEJAD A, LASHGARIAN N, KARIMI-NEJAD M. RESULTS OF CYTOGENETIC ANALYSIS OF 521 AMNIOTIC FLUID CELL CULTURES (AMNIOCENTESES) PERFORMED IN IRAN. Med J Islam Repub Iran 1999; 13 (3) :161-166
URL:
http://mjiri.iums.ac.ir/article-1-930-en.html
From the Karimi-Nejad Pathology and Genetic Center, Tehran, I.R. Iran.
Abstract: (4579 Views)
The indications and results of cytogenetic analysis of 521 amniotic cell cultures
performed at 13-16 weeks of gestation were evaluated in this study. 507 fetuses
(97.3%) were cytogenetically normal, 14 (2.7%) had unbalanced karyotypes, and 2
fetuses were found to have major abnormalities, one with anencephaly detected by
measurement of alpha -fetoprotein levels in amniotic fluid and ultrasonography, and
the other with a full mutation at the FMRl locus detected by molecular techniques.
The unbalanced karyotypes included 2 cases each of trisomy 21, trisomy 18, triple
X, 47 XXY and mosaicisms and 4 cases of various chromosomal abnormalities.
225 tests were performed for women 35 years of age or over, 6 (2.4%) abnormal
karyotypes were detected, showing a 6 - fold increase over the general population.
This risk was even higher (2/23,8.7%) among those parous aged >35 y who had a
previous history of offspring with chromosomal aberrations.
5 of 32 (15.65%) fetuses whose parent was a carrier of a balanced chromosomal
translocation or a small chromosomal marker (in one case), had unbalanced
chromosomal aberrations.
There were 7 cases of spontaneous abortion within 4 weeks after amniocentesis,
one of which was a case of 46 XY, t (1421), + 18. Excluding this case, the rate of
abortion (6/521, 1.3%) was quite below the expected rate of 2.1 % for spontaneous
abortion in the 2nd trimester of pregnancy. Our data indicates that amniocentesis
performed at 13-16 weeks is a safe, reliable procedure for detection of fetal
chromosomal abnormalities in Iran, and we strongly recommend it for those parous
at risk.
Type of Study:
Original Research |
Subject:
Pathology