Prospective evaluation of prenatal maternal serum screening for trisomy 18

American Journal of Obstetrics and Gynecology
J YankowitzW T Budelier

Abstract

Our goal was to evaluate the performance of prenatal serum screening for trisomy 18. All 40,762 samples for maternal serum testing (August 1991 to June 1994) with a trisomy 18-positive screen (n = 175, alpha-fetoprotein < or =0.75 multiples of the median, unconjugated estriol < or =0.60 multiples of the median, human chorionic gonadotropin < or =0.55 multiples of the median) were analyzed. Results of all amniocenteses, ultrasonographic studies, and birth or death certificate information were obtained from the Iowa Expanded Serum Screening Program, the Iowa Department of Public Health, and the Iowa Birth Defects Registry. We obtained the expected screen-positive rate for trisomy 18 (0.43%, 175/40,762). Fourteen samples from outside the state were excluded, which left 161 cases with outcome data obtained through amniocentesis (n = 121), birth certificates (n = 34), telephone contact (n = 2), or a sonogram indicating a nonviable gestation (n = 4). Of 121 screen-positive women undergoing amniocentesis, 119 had a normal karyotype and 2 had an abnormal karyotype: 69,XXY and 47,XY,+18. Of 36 who declined amniocentesis, none had findings consistent with aneuploidy on clinical neonatal examination. Of the 103 patients who had a detailed...Continue Reading

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Citations

Aug 17, 2001·Clinical Chemistry and Laboratory Medicine : CCLM·S H AkbasG Lüleci
Jun 22, 2011·Prenatal Diagnosis·Yuval GielchinskyKypros H Nicolaides
Aug 24, 2001·American Journal of Obstetrics and Gynecology·W A HoggeT Melegari
Aug 6, 2003·Radiologic Clinics of North America·Nancy E Budorick, Mary K O'Boyle
Jan 19, 2007·American Journal of Medical Genetics. Part a·Michael L BegleiterHolly H Ardinger
Mar 21, 2006·Journal of Clinical Ultrasound : JCU·Sheng-Wen ShawYung-Kuei Soong
Nov 7, 2009·Sociology of Health & Illness·Susan MarkensH Mabel Preloran

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