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A negative second trimester triple test and absence of specific ultrasonographic markers may decrease the need for genetic amniocentesis in advanced maternal age by 60%
Author(s) -
Rosen D. J. D.,
Kedar I.,
Amiel A.,
BenTovim T.,
Petel Y.,
Kaneti H.,
Tohar M.,
Fejgin M. D.
Publication year - 2002
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.238
Subject(s) - triple test , amniocentesis , medicine , down syndrome , obstetrics , population , prenatal diagnosis , pregnancy , gynecology , advanced maternal age , aneuploidy , fetus , genetics , biology , chromosome , environmental health , psychiatry , gene
Objective A study was conducted to evaluate the sensitivity of combining a second trimester triple test and targeted ultrasound in order to detect Down syndrome in women undergoing amniocentesis over 35 years of age. Methods Women over 35 years of age underwent a triple test and an ultrasound examination for chromosomal markers immediately prior to genetic amniocentesis. Results One thousand and six women were examined. Four hundred and thirty seven were triple test‐positive and in 195 cases ultrasonographic abnormalities were observed. Thirteen had Down syndrome and eight had other chromosomal abnormalities. All women with Down syndrome babies were triple test‐positive and seven also had ultrasonographic markers. Three of eight women who had babies with chromosomal aberrations other then Down syndrome were also triple test‐positive. Conclusions The use of the triple test as a screening tool in our population would reduce the number of amniocenteses by 60%, while no cases of Down syndrome would be missed. Ultrasonographic markers have added little to this population. Three non‐Down syndrome chromosomal abnormalities and two Down syndrome mosaic cases would be missed by this approach. Copyright © 2002 John Wiley & Sons, Ltd.