International Journal of Infertility & Fetal Medicine

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VOLUME 12 , ISSUE 1 ( January-April, 2021 ) > List of Articles

RESEARCH ARTICLE

Prenatal Aneuploidy Screening and Diagnosis—Its Evolution and Trends: A 3-year Analysis in a Fetal Medicine Center

Abhijeet Kumar, Madhusudan Dey, Sanjay Singh, Devendra Arora

Keywords : Amniocentesis, Chorionic villus sampling, Down syndrome, Noninvasive prenatal test, Prenatal diagnosis, Prenatal screening

Citation Information : Kumar A, Dey M, Singh S, Arora D. Prenatal Aneuploidy Screening and Diagnosis—Its Evolution and Trends: A 3-year Analysis in a Fetal Medicine Center. Int J Infertil Fetal Med 2021; 12 (1):17-21.

DOI: 10.5005/jp-journals-10016-1216

License: CC BY-NC 4.0

Published Online: 00-04-2021

Copyright Statement:  Copyright © 2021; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

Introduction: After the ACOG guideline in 2007 recommending that all women, regardless of age, should be offered aneuploidy screening before 20 weeks of gestation. This protocol in the name of the fetal aneuploidy screening program was slowly introduced in various Indian hospitals. This observational study was performed to analyze population-based trends of prenatal testing (serum screening and invasive testing) for aneuploidy over 3 years (2017–2019). Materials and methods: A retrospective single-center study was carried over a period of 3 years (January 2017 to December 2019). This hospital was a tertiary care hospital with fetal medicine unit that had approximately 3,000 annual births. Analysis of data of all pregnant women undergoing prenatal testing before 20 weeks of gestation was collected in the following subheads: (1) aneuploidy screening data, (2) invasive testing data [amniocenteses and chorionic villus samplings (CVSs)], and (3) tertiary care hospital birth statistics from January 2017 to December 2019. Results: Over a period of 3 years, aneuploidy screening was accepted by the target population and at present >85% target population undergo aneuploidy serum screening. Annual numbers of invasive prenatal tests climbed steadily from 2017 to 2019. The proportion of invasive testing performed for abnormal serum screening (ASS) increased steadily from 51% in 2017 to 72% (p < 0.05) in 2019. While the indications abnormal ultrasound finding (AUS) showed a steady decline over the same timeline but an indication of previous baby affected with aneuploidy (PBAA) remained in the same range. By 2019, the most common indications for invasive tests were positive ASS (72%) and AUS abnormality (15%). The diagnostic yield of all invasive tests for a major chromosome abnormality over a 3-year study period was 4.7%. The rate of CVS to amniocentesis rose to 17.5% in 2019 from 4.6% in 2017. Fewer complications of invasive tests were observed as compared to previous studies. Conclusion: The study demonstrates a rise in aneuploidy serum screening and its acceptance in the pregnant population. Abnormal serum screening is the main indication of prenatal invasive testing. This study also adds to the safety profile of invasive testing.


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  1. Penrose LS, The Colchester Survey: a clinical and genetic study of 1280 cases of mental defects. London's/Privy Council of Medical Research 1938.
  2. Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007;110(3):687–694. DOI: 10.1097/01.AOG.0000278820.54029.e3.
  3. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27(1):1–7. DOI: 10.1159/000271995.
  4. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31(1):7–15. DOI: 10.1002/pd.2637.
  5. O’Leary P, Maxwell S, Murch A, et al. Prenatal screening for Down syndrome in Australia: costs and benefits of current and novel screening strategies’. NZJ Obstet Gynaecol 2013;53(5):425–433. DOI: 10.1111/ajo.12136.
  6. Larion S, Warsof SL, Romary L, et al. Association of combined first-trimester screen and noninvasive prenatal testing on diagnostic procedures. Obstet Gynecol 2014;123(6):1303–1310. DOI: 10.1097/AOG.0000000000000275.
  7. Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 2013;33(6):542–546. DOI: 10.1002/pd.4125.
  8. Hui L, Bianchi DW. Recent advances in the prenatal interrogation of human fetal genome. Trends Genet 2013;29(2):84–91. DOI: 10.1016/j.tig.2012.10.013.
  9. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367(23):2175–2184. DOI: 10.1056/NEJMoa1203382.
  10. American College of Obstetricians and Gynecologists. Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013;122(6):1374–1377. DOI: 10.1097/00006250-201312000-00042.
  11. Dey M, Sharma S, Aggarwal S. Prenatal screening methods for aneuploidies. North Am J Med Sci 2013;5(3):182–190. DOI: 10.4103/1947-2714.109180.
  12. Siljee JE, Knegt AC, Knapen MF, et al. Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009). Prenat Diagn 2014;34(3):259–264. DOI: 10.1002/pd.4302.
  13. Shaffer LG, Rosenfeld JA, Dabell MP, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn 2012;32(10):986–995. DOI: 10.1002/pd.3943.
  14. Akolekar R, Beta J, Picciarelli G, et al. procedure related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta analysis. Ultrasound Obstet Gynecol 2015;45(1):16–26. DOI: 10.1002/uog.14636.
  15. American College of Obstetricians and Gynecologists. Screening for fetal chromosomal abnormalities. ACOG practice bulletin no. 226. Obstet Gynecol 2020;136(4):e48–e69. DOI: 10.1097/AOG.0000000000004084.
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