A Retrospective Evaluation of Maternal Serum Screening for the Detection of Fetal Aneuploidy

• Published in: Prenatal diagnosis Vol. 17; no. 9; pp. 861 - 866
• Main Authors: Suzumori, Kaoru, Tanemura, Mitsuyo, Murakami, Isamu, Okada, Setsuo, Natori, Michiya, Tanaka, Mamoru, Takagi, Tsukasa, Sato, Akio
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.09.1997; Wiley
• Subjects: Adult; Algorithms; alpha-Fetoproteins - analysis; Aneuploidy; Biological and medical sciences; Chorionic Gonadotropin - blood; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 21; Down Syndrome - diagnosis; Down Syndrome - epidemiology; Down's syndrome; Estriol - blood; Female; Fetal Diseases - diagnosis; Fetal Diseases - epidemiology; Genetic Counseling; Genetic Testing - methods; Gynecology. Andrology. Obstetrics; Humans; Japan - epidemiology; Management. Prenatal diagnosis; Maternal Age; maternal serum markers; Medical sciences; Middle Aged; Pregnancy - blood; Pregnancy Trimester, Second; Pregnancy. Fetus. Placenta; Prenatal Diagnosis - methods; prenatal screening; Retrospective Studies; Risk Factors; Trisomy; Japan; Chromosomal aberration; Human; Evaluation; Trisomy; Estrogen; Chromosome G21; Biological marker; Aneuploidy; Gonadotropin; Down syndrome; Glycoprotein hormone; α-Fetoprotein; Congenital disease; HCG; Ovarian hormone; Placental hormone; Blood plasma; Prenatal; Mother; Female; Estriol; Diagnosis; Sex steroid hormone
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/(SICI)1097-0223(199709)17:9<861::AID-PD169>3.0.CO;2-E

A retrospective evaluation of alpha‐fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated oestriol (uE3) levels in maternal blood in the second trimester was conducted for cases of aneuploid pregnancies identified from a series of women who underwent amniocentesis. Blood samples were collected from 1078 women just before genetic amniocentesis was performed, mainly for individuals of advanced maternal age (greater than 35 years). Twenty‐five maternal serum samples from pregnant women with an aneuploid fetus, including 14 with Down's syndrome, were available for analysis of all three parameters. An algorithm to detect Down's syndrome was used for this analysis with a risk of ≥1:299 classified as screen‐positive, this being found for 20.4 per cent of the cases (220/1078). The actual Down's syndrome detection rate was 85.7 per cent (12/14), whereas the detection rate for all aneuploidies was 72.0 per cent (18/25). Those that were not detected were two cases of trisomy 21, one trisomy 18, two trisomy 13, three sex chromosome abnormalities, and one case of an additional marker chromosome. The data indicate that this tri‐analyte test should be provided after thorough genetic counselling and informed decision‐making regarding maternal serum screening for women who wish for a prenatal diagnosis. © 1997 John Wiley & Sons, Ltd.