A retrospective evaluation of maternal serum screening for the detection of fetal aneuploidy

Kaoru Suzumori, Mitsuyo Tanemura, Isamu Murakami, Setsuo Okada, Michiya Natori, Mamoru Tanaka, Tsukasa Takagi, Akio Sato

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)861-866
Number of pages6
JournalPrenatal Diagnosis
Volume17
Issue number9
DOIs
Publication statusPublished - 1997 Sep

Fingerprint

Aneuploidy
Down Syndrome
Mothers
Amniocentesis
Serum
Sex Chromosome Aberrations
Estriol
Genetic Counseling
Maternal Age
alpha-Fetoproteins
Second Pregnancy Trimester
Chorionic Gonadotropin
Prenatal Diagnosis
Genetic Markers
Pregnant Women
Decision Making
Fetus
Pregnancy

Keywords

  • Aneuploidy
  • Down's syndrome
  • Maternal serum markers
  • Prenatal screening

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

A retrospective evaluation of maternal serum screening for the detection of fetal aneuploidy. / Suzumori, Kaoru; Tanemura, Mitsuyo; Murakami, Isamu; Okada, Setsuo; Natori, Michiya; Tanaka, Mamoru; Takagi, Tsukasa; Sato, Akio.

In: Prenatal Diagnosis, Vol. 17, No. 9, 09.1997, p. 861-866.

Research output: Contribution to journalArticle

Suzumori, Kaoru ; Tanemura, Mitsuyo ; Murakami, Isamu ; Okada, Setsuo ; Natori, Michiya ; Tanaka, Mamoru ; Takagi, Tsukasa ; Sato, Akio. / A retrospective evaluation of maternal serum screening for the detection of fetal aneuploidy. In: Prenatal Diagnosis. 1997 ; Vol. 17, No. 9. pp. 861-866.
@article{5841e06c33974a8eafb3d0c81b42875a,
title = "A retrospective evaluation of maternal serum screening for the detection of fetal aneuploidy",
abstract = "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.",
keywords = "Aneuploidy, Down's syndrome, Maternal serum markers, Prenatal screening",
author = "Kaoru Suzumori and Mitsuyo Tanemura and Isamu Murakami and Setsuo Okada and Michiya Natori and Mamoru Tanaka and Tsukasa Takagi and Akio Sato",
year = "1997",
month = "9",
doi = "10.1002/(SICI)1097-0223(199709)17:9<861::AID-PD169>3.0.CO;2-E",
language = "English",
volume = "17",
pages = "861--866",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "9",

}

TY - JOUR

T1 - A retrospective evaluation of maternal serum screening for the detection of fetal aneuploidy

AU - Suzumori, Kaoru

AU - Tanemura, Mitsuyo

AU - Murakami, Isamu

AU - Okada, Setsuo

AU - Natori, Michiya

AU - Tanaka, Mamoru

AU - Takagi, Tsukasa

AU - Sato, Akio

PY - 1997/9

Y1 - 1997/9

N2 - 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.

AB - 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.

KW - Aneuploidy

KW - Down's syndrome

KW - Maternal serum markers

KW - Prenatal screening

UR - http://www.scopus.com/inward/record.url?scp=0030929382&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030929382&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1097-0223(199709)17:9<861::AID-PD169>3.0.CO;2-E

DO - 10.1002/(SICI)1097-0223(199709)17:9<861::AID-PD169>3.0.CO;2-E

M3 - Article

VL - 17

SP - 861

EP - 866

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 9

ER -