DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20175852

Antenatal screening for aneuploidy

Smita S. Patne, Aditi J. Upadhye, Shantanu C. Shembekar, Chaitanya A. Shembekar, Jayshree J. Upadhye

Abstract


Background: It is uncertain how best to screen pregnant women for the presence of fetal Down's syndrome and other aneuploides, whether to perform first-trimester screening or to perform second-trimester screening or both.

Methods: Women with singleton and multiple pregnancies underwent first-trimester combined screening (measurement of nuchal translucency, pregnancy-associated plasma protein A [PAPP-A], and the free beta subunit of human chorionic gonadotropin at 10 weeks 3 days through 13 weeks 6 days of gestation). Also, second-trimester quadruple screening (measurement of alpha-fetoprotein, total human chorionic gonadotropin, unconjugated estriol, and inhibin A) and triple marker test was done from 15 to 18 weeks of gestation.

Results: 12 (5%) patients had positive screening test for combined screening in first trimester, 6 (10.9%) patients had positive screening for quadruple test while 1 (2.85%) patients had positive screening for triple test. Out of 19 positive screening, 16 (84.21%) had their amniocentesis done for confirmation of diagnosis. In all 16 patients, chromosomal analysis was normal. Not a single patient turned out to have a baby with Down syndrome or any other aneuploidy. False positive rate for combined screening in first trimester was 5%, false positive rate for quadruple test in second trimester was 10.9%, false positive rate for triple marker test in second trimester was 2.85%.

Conclusions: First-trimester combined screening is better than second-trimester quadruple test or triple marker test for syndrome or any other aneuploidy.


Keywords


Combined screening, Down syndrome, Quadruple screening

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References


Spencer K. Aneuploidy screening in the first trimester. Am J Med Genet Part C Semin Med Genet. 2007;145C:18-32.

Zournatzi V, Daniilidis A, Karidas C, Tantanasis T, Loufopoulos AA, Tzafettas J. A prospective two years study of first trimester screening for Down Syndrome. Hippokratia. 2008 Jan;12(1):28.

Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening, Cochrane Database Syst Rev. 2017;3:CD012600.

Graves JC, Miller KE, Sellers AD. Maternal Serum Triple Analyte Screening in Pregnancy. Am Fam Physician. 2002 Mar 1;65(5):915-21.

Alldred SK, Deeks JJ, Guo B, Neilson JP, Alfirevic Z. Second trimester serum tests for Down's Syndrome screening. Cochrane Database Syst Rev. 2012 Jun;(6):CD009925.

Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R et al. First-trimester or second-trimester screening, or both, for Down's Syndrome. N Engl J Med. 2005 Nov 10;353(19):2001-11.

Egan JF, Kaminsky LM, DeRoche ME, Barsoom MJ, Borgida AF, Benn PA. Antenatal Down syndrome screening in the United States in 2001: A survey of maternal-fetal medicine specialists. Am J Obstet Gynecol. 2002;187:1230-4.

ACOG. Women’s health care physicians. Prenatal Genetic Screening Tests. FAQ 165. July 2017. Available at https://www.acog.org/-/media/For-Patients/faq165.pdf?dmc=1&ts=20171212T1212581010

Cuckle H. Time for total shift to first-trimester screening for Down's syndrome. The Lancet. 2001 Nov 17;358(9294):1658-9.

Muller F, Benattar C, Audibert F, Roussel N, Dreux S, Cuckle H. First-trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers. Prenat Diagn. 2003;23(10):833-6.

Wapner R, Thom E, Simpson JL, Pergament E, Silver R, Filkins K, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003;349:1405-13.

Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP et al. First trimester serum tests for Down's syndrome screening. Cochrane Database Syst Rev. 2015 Nov;(11):CD011975.

Alldred SK, Guo B, Takwoingi Y, Pennant M, Wisniewski S, Deeks JJ, et al. Urine tests for Down's syndrome screening. Cochrane Database Syst Rev. 2015 Dec 10;(12):CD011984.

Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP. First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening. Cochrane Database Syst Rev. 2017 Mar 15;3:CD012599.

Alldred SK, Deeks JJ, Guo B, Neilson JP, Alfirevic Z, Second trimester serum tests for Down's Syndrome screening. Cochrane Database Syst Rev. 2012 Jun 13;(6):CD009925.

Danisman N, Kahyaoglu S, Celen S, Kahyaoglu I, Candemir Z, Yesilyurt A et al. A retrospective analysis of amniocenteses performed for advanced maternal age and various other indications in Turkish women. J Maternal-Fetal Neonat Med. 2013 Feb 1;26(3):242-5.

Stenhouse EJ, Crossley JA, Aitken DA, Brogan K, Cameron AD, Connor JM. First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice. Prenat Diagn. 2004 Oct;24(10):774-80.