Prenatal diagnosis of diverse chromosome abnormalities in a population of patients identified by triple-marker testing as screen positive for Down syndrome

American Journal of Obstetrics and Gynecology
P A BennR M Greenstein

Abstract

Our purpose was to determine the incidence of all types of chromosome abnormalities (i.e., trisomy 21 and other abnormalities) in women receiving prenatal chromosome analysis after a Down syndrome screen-positive result by maternal serum triple-marker testing (alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol analyses). A total of 11,434 patients between 15.0 and 21.9 weeks' gestation received second-trimester Down syndrome risk evaluation by triple-marker testing. By use of a 1:270 midtrimester Down syndrome risk cutoff value, and after ultrasonographic confirmation of gestational age, 677 patients were screen positive for Down syndrome (corrected screen-positive rate 5.92%). Karyotypes were reviewed for 468 (69%) of these patients who received prenatal chromosome analysis. In addition to 12 cases of Down syndrome, 12 other fetal chromosome abnormalities were found (i.e., 5.13% had a chromosome abnormality of some type). Expressed as a proportion of all patients with a corrected Down syndrome screen-positive result, at least 3.69% had a chromosome abnormality. The overall spectrum of abnormal karyotypes (approximately 50% autosomal trisomy, 25% structural and 25% sex chromosome abnormality) appears to b...Continue Reading

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Citations

Jul 16, 1999·American Journal of Medical Genetics·S TanskiP A Benn
Jan 13, 1999·Prenatal Diagnosis·T BeazoglouP Benn
Jul 24, 2002·Clinica Chimica Acta; International Journal of Clinical Chemistry·Peter A Benn
Nov 21, 2000·Obstetrics and Gynecology·J F EganA M Vintzileos
Mar 15, 2003·Obstetrics and Gynecology·Peter A BennRoxanne Collins
Jun 12, 2003·Obstetrics and Gynecology·Anne M SummersPhilip R Wyatt
Jun 10, 1998·Obstetrical & Gynecological Survey·A Conde-Agudelo, A C Kafury-Goeta
Oct 6, 1999·European Journal of Obstetrics, Gynecology, and Reproductive Biology·J H ChenY K Soong
May 20, 2005·American Journal of Obstetrics and Gynecology·Fady Khoury-ColladoZeev Weiner
May 1, 1997·American Journal of Obstetrics and Gynecology·P A BennJ F Rodis
Jun 15, 2012·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Mar 16, 2017·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Dec 15, 2015·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Dec 1, 2015·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Feb 11, 2004·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·C-P ChenC-Y Tzen
May 16, 2003·Prenatal Diagnosis·Chih-Ping ChenWayseen Wang
Oct 16, 2007·Fetal Diagnosis and Therapy·Marco LiberatiClaudio Celentano
Dec 25, 2007·The Korean journal of laboratory medicine·Ji Myung KimEun Hee Lee
Mar 16, 2017·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Dec 1, 1997·Journal of Genetic Counseling·K E Ormond
Apr 1, 2006·Expert Review of Pharmacoeconomics & Outcomes Research·Isabelle Durand-Zaleski

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