The need to reevaluate trisomy screening for advanced maternal age in prenatal diagnosis
Article Abstract:
More studies are needed before fluorescence in situ hybridization can be routinely used in the prenatal diagnosis of chromosomal abnormalities. Prenatal screening is primarily used among older pregnant women because of the increased risk of trisomy, especially Down syndrome, associated with advanced maternal age. Trisomy is an abnormality in the number of chromosomes, usually an extra copy of chromosome 13, 18 or 21. Unlike chorionic villi sampling and amniocentesis, fluorescence in situ hybridization can give immediate results. Amniotic fluid samples from 7,240 pregnant women of advanced age were analyzed for numeric and structural chromosome abnormalities. Overall, 181 samples were abnormal. Of the abnormal samples, 55% were age-related syndromes and the remainder were non-age-related, including abnormalities in the number of sex chromosomes and chromosome structure. Among these women, the risk of structural abnormalities was twice the risk of trisomy. However, fluorescence in situ hybridization would not reliably detect these abnormalities.
Publication Name: American Journal of Obstetrics and Gynecology
Subject: Health
ISSN: 0002-9378
Year: 1993
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Prospective evaluation of prenatal maternal serum screening for trisomy 18
Article Abstract:
Confirmation of abnormal blood test results for trisomy 18 with ultrasonographic screening may improve the accuracy of prenatal testing for this chromosomal defect. Trisomy 18 is a serious chromosomal abnormality that often results in the death of the fetus or young child. Researchers evaluated maternal serum screening test results in 40,762 pregnant women for evidence of low alpha fetoprotein and hormonal defects indicative of trisomy 18. Only 175 samples indicated a potential chromosomal defect. After ultrasound testing, about 80% of the fetuses appeared to be normal.
Publication Name: American Journal of Obstetrics and Gynecology
Subject: Health
ISSN: 0002-9378
Year: 1998
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Detection of fetal trisomy 18 by short-term culture of maternal peripheral blood
Article Abstract:
Researchers describe a technique they used to successfully detect chromosomal abnormality in a fetus before it was born. This technique relies on the fact that fetal cells can be isolated from the mother's blood. The cells were cultured and analyzed with fluorescence in situ hybridization.
Publication Name: American Journal of Obstetrics and Gynecology
Subject: Health
ISSN: 0002-9378
Year: 2000
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