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Published in: Archives of Gynecology and Obstetrics 3/2012

01-03-2012 | Maternal-Fetal Medicine

The quadruple test for Down syndrome screening in pregnant women of advanced maternal age

Authors: Ji Young Kwon, In Yang Park, Seong-min Kwon, Chan Joo Kim, Jong Chul Shin

Published in: Archives of Gynecology and Obstetrics | Issue 3/2012

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Abstract

Purpose

The purpose of the current study was to determine whether or not the quadruple test for screening Down syndrome is an effective method to replace direct amniocentesis in pregnant women ≥35 years of age.

Methods

This study analyzed the screening performance of the quadruple test according to maternal age at delivery among subjects who had a quadruple screening test at 1 of 4 hospitals during a 5-year period and for whom data on fetal chromosomal abnormalities were available.

Results

The study population of 9,435 pregnant women was divided into 3 groups according to maternal age: 6,922 women were <35 years of age; 2,284 were 35–39 years of age; and 229 women ≥40 years of age. The detection and false-positive rates of the quadruple screening test for Down or Edward syndrome in the 3 groups of women were 80 and 6.6%, 200 and 15.8%, and 100 and 35.3%, respectively.

Conclusions

Under conditions in which first trimester screening test is not available, the quadruple screening test is a better choice than direct amniocentesis for pregnancies complicated by advanced maternal age. When providing genetic counseling, we need to explain the accurate detection and false-positive rates of the screening test according to maternal age.
Literature
1.
go back to reference American College of Obstetricians and Gynecologists (ACOG) (1976) Antenatal diagnosis of genetic disorders. ACOG Technical Bulletin #39 American College of Obstetricians and Gynecologists (ACOG) (1976) Antenatal diagnosis of genetic disorders. ACOG Technical Bulletin #39
2.
go back to reference The Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group (1998) Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 351:242–247CrossRef The Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group (1998) Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 351:242–247CrossRef
3.
go back to reference Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, Porter TF, Luthy DA, Comstock CH, Saade GR, Klugman S, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, D’Alton ME (2006) Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 108:1067–1072PubMedCrossRef Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, Porter TF, Luthy DA, Comstock CH, Saade GR, Klugman S, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, D’Alton ME (2006) Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 108:1067–1072PubMedCrossRef
4.
go back to reference Benn PA, Egan JF, Fang M, Smith-Bindman R (2004) Changes in the utilization of prenatal diagnosis. Obstet Gynecol 103:1255–1260PubMedCrossRef Benn PA, Egan JF, Fang M, Smith-Bindman R (2004) Changes in the utilization of prenatal diagnosis. Obstet Gynecol 103:1255–1260PubMedCrossRef
5.
go back to reference ACOG Committee on Practice Bulletins (2007) ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 109:217–227CrossRef ACOG Committee on Practice Bulletins (2007) ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 109:217–227CrossRef
6.
go back to reference Driscoll DA, Morgan MA, Schulkin J (2009) Screening for Down syndrome: changing practice of obstetricians. Am J Obstet Gynecol 200(459):e1–e9PubMed Driscoll DA, Morgan MA, Schulkin J (2009) Screening for Down syndrome: changing practice of obstetricians. Am J Obstet Gynecol 200(459):e1–e9PubMed
7.
go back to reference Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, Dukes K, Bianchi DW, Rudnicka AR, Hackshaw AK, Lambert-Messerlian G, Wald NJ, D’Alton ME, First- and second-trimester evaluation of risk (FASTER) research consortium (2005) First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 353:2001–2011PubMedCrossRef Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, Dukes K, Bianchi DW, Rudnicka AR, Hackshaw AK, Lambert-Messerlian G, Wald NJ, D’Alton ME, First- and second-trimester evaluation of risk (FASTER) research consortium (2005) First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 353:2001–2011PubMedCrossRef
8.
go back to reference Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM (2003) First and second trimester antenatal screening for Down’s syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 10:56–104 (published erratum appears in J Med Screen. 2006;13(1):51–52)PubMedCrossRef Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM (2003) First and second trimester antenatal screening for Down’s syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 10:56–104 (published erratum appears in J Med Screen. 2006;13(1):51–52)PubMedCrossRef
9.
go back to reference Reynolds TM, Nix AB, Dunstan FD, Dawson AJ (1993) Age-specific detection and false-positive rates: an aid to counseling in Down syndrome risk screening. Obstet Gynecol 81:447–450PubMed Reynolds TM, Nix AB, Dunstan FD, Dawson AJ (1993) Age-specific detection and false-positive rates: an aid to counseling in Down syndrome risk screening. Obstet Gynecol 81:447–450PubMed
10.
go back to reference Spencer K (2001) Age related detection and false positive rates when screening for Down’s syndrome in the first trimester using fetal nuchal translucency and maternal serum free betahCG and PAPP-A. BJOG 108:1043–1046PubMedCrossRef Spencer K (2001) Age related detection and false positive rates when screening for Down’s syndrome in the first trimester using fetal nuchal translucency and maternal serum free betahCG and PAPP-A. BJOG 108:1043–1046PubMedCrossRef
11.
go back to reference Sadler M (1997) Serum screening for Down’s syndrome: how much do health professionals know? Br J Obstet Gynaecol 104:176–179PubMedCrossRef Sadler M (1997) Serum screening for Down’s syndrome: how much do health professionals know? Br J Obstet Gynaecol 104:176–179PubMedCrossRef
12.
go back to reference Cleary-Goldman J, Morgan MA, Malone FD, Robinson JN, D’Alton ME, Schulkin J (2006) Screening for Down syndrome: practice patterns and knowledge of obstetricians and gynecologists. Obstet Gynecol 107:11–17PubMedCrossRef Cleary-Goldman J, Morgan MA, Malone FD, Robinson JN, D’Alton ME, Schulkin J (2006) Screening for Down syndrome: practice patterns and knowledge of obstetricians and gynecologists. Obstet Gynecol 107:11–17PubMedCrossRef
13.
go back to reference Nakata N, Wang Y, Bhatt S (2010) Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age. Prenat Diagn 30:198–206PubMed Nakata N, Wang Y, Bhatt S (2010) Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age. Prenat Diagn 30:198–206PubMed
14.
go back to reference Schreinemachers DM, Cross PK, Hook EB (1982) Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20,000 prenatal studies compared with estimated rates in live births. Hum Genet 61:318–324PubMedCrossRef Schreinemachers DM, Cross PK, Hook EB (1982) Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20,000 prenatal studies compared with estimated rates in live births. Hum Genet 61:318–324PubMedCrossRef
15.
go back to reference Hook EB, Cross PK, Jackson L, Pergament E, Brambati B (1988) Maternal age-specific rates of 47, +21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis. Am J Hum Genet 42:797–807PubMed Hook EB, Cross PK, Jackson L, Pergament E, Brambati B (1988) Maternal age-specific rates of 47, +21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis. Am J Hum Genet 42:797–807PubMed
16.
go back to reference Forabosco A, Percesepe A, Santucci S (2009) Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses. Eur J Hum Genet 17:897–903PubMedCrossRef Forabosco A, Percesepe A, Santucci S (2009) Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses. Eur J Hum Genet 17:897–903PubMedCrossRef
17.
go back to reference Boyd PA, Loane M, Garne E, Khoshnood B, Dolk H, EUROCAT working group (2011) Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Hum Genet 19:231–234PubMedCrossRef Boyd PA, Loane M, Garne E, Khoshnood B, Dolk H, EUROCAT working group (2011) Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Hum Genet 19:231–234PubMedCrossRef
18.
go back to reference Forrester MB, Merz RD (1999) Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986–1997. Genet Test 3:335–340PubMedCrossRef Forrester MB, Merz RD (1999) Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986–1997. Genet Test 3:335–340PubMedCrossRef
Metadata
Title
The quadruple test for Down syndrome screening in pregnant women of advanced maternal age
Authors
Ji Young Kwon
In Yang Park
Seong-min Kwon
Chan Joo Kim
Jong Chul Shin
Publication date
01-03-2012
Publisher
Springer-Verlag
Published in
Archives of Gynecology and Obstetrics / Issue 3/2012
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI
https://doi.org/10.1007/s00404-011-2052-1

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