Abstract
Purpose
In this study, we aimed to assess the distribution of genetic abnormalities leading to termination of pregnancy and its fluctuation during the past 8 years in light of those technical advances.
Methods
Our cohort consisted of all pregnant women who underwent termination of pregnancy because of genetic aberrations in their fetuses from January 2010 through April 2018 in our medical center. The information that was gathered included: maternal age, results of the nuchal scan, results of the first- and second-trimester biochemical screening, ultrasonographic findings, reasons for conducting a genetic evaluation, gestational age at which termination of pregnancy was carried out, and the type of genetic aberration.
Results
816 women underwent termination of pregnancy at our institution due to genetic aberrations, most of them because of positive biochemical screening (n = 297, 36%) or because of maternal anxiety (n = 283, 35%). Findings in chromosomal microarray led to termination of pregnancy in 100 women (100/816, 12%). Chromosomal microarray had been performed due to maternal choice and not because of accepted medical indications among most of the women who underwent termination of pregnancy due to findings on chromosomal microarray (69/100, 69%).
Conclusion
Performing chromosomal microarray on a structurally normal fetus and identifying abnormal copy number variants may give the parents enough information for deciding on the further course of the pregnancy.
Similar content being viewed by others
References
Kalter H (1991) Five-decade international trends in the relation of perinatal mortality and congenital malformations: stillbirth and neonatal death compared. Int J Epidemiol 20:173–179
Peller AJ, Westgate MN, Holmes LB (2004) Trends in congenital malformations, 1974–1999: effect of prenatal diagnosis and elective termination. Obstet Gynecol 104:957–964
Evans MI, Andriole S, Evans SM (2015) Genetics: update on prenatal screening and diagnosis. Obstet Gynecol Clin N Am 42:193–208
Shaffer LG, Dabell MP, Fisher AJ et al (2012) Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 32:976–985
Wapner RJ, Martin CL, Levy B et al (2012) Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 367:2175–2184
Committee Opinion No 581 (2011) Characteristics of the Earliest Cross-Neutralizing Antibody Response to HIV-1. PLoS Pathogens 71374–1377
Dugoff L, Norton ME, Kuller JA, Medicine SFMF (2016) The use of chromosomal microarray for prenatal diagnosis. Am J Obstetr Gynecol 215:B2–B9
Sheiner E, Shoham-Vardi I, Weitzman D, Gohar J, Carmi R (2011) Eur J Obstet Gynecol Reprod Biol 76(2):141–146
Parliamnet. I. Israel penalty law termination of pregnancy. 1977.
Svirsky R, Reches A, Brabbing-Goldstein D, Bar-Shira A, Yaron Y (2017) Association of aberrant right subclavian artery with abnormal karyotype and microarray results. Prenat Diagn 37:808–811
Svirsky R, Brabbing-Goldstein D, Rozovski U, Kapusta L, Reches A, Yaron Y (2018) The genetic and clinical outcome of isolated fetal muscular ventricular septal defect (VSD). J Matern Fetal Neonatal Med 2018:1–11
Maymon R, Reish O, Schneider D, Halperin R, Herman A (2003) Fetal abnormalities leading to termination of pregnancy: the experience at the Assaf Harofeh Medical center between the years 1999–2000. Harefuah 142(6):405–409
Shaffer LG, Dabell MP, Rosenfeld JA et al (2012) Referral patterns for microarray testing in prenatal diagnosis. Prenat Diagn 32:611
Miny P, Wenzel F, Tercanli S, Filges I (2013) Chromosomal microarrays in prenatal diagnosis: time for a change of policy? Microarrays (Basel) 2(10):(10):304–317–317. https://doi.org/10.1084/jem.20042321
Sagi-Dain L, Cohen Vig L, Kahana S, Yacobson S, Tenne T, Agmon-Fishman I, Klein C, Matar R, Basel-Salmon L, Maya I. Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies. Genet Med. 2019
Callaway JL, Shaffer LG, Chitty LS, Rosenfeld JA, Crolla JA (2013) The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn 33:1119–1123
Brabbing-Goldstein D, Reches A, Svirsky R, Bar-Shira A, Yaron Y (2018) Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis. Am J Obstet Gynecol 218:2471 e1–4712 e12
Salomon LJ, Sotiriadis A, Wulff CB, Odibo A, Akolekar R (2019) Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of the literature and updated meta-analysis. Ultrasound Obstet Gynecol. https://doi.org/10.1002/uog.20353 (Epub ahead of print)
Author information
Authors and Affiliations
Contributions
SR: project development, data collection, manuscript writing. PM: data collection, manuscript writing. RU: statistical analysis, manuscript writing. MR: project development, manuscript writing.
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Informed consent
The local IRB committee approved this retrospective study (approval 0008-17-ASF), without requiring informed consent since this is a retrospective study, all the data were gathered using complete anonymity, and it is not applicable to our manuscript.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Svirsky, R., Pekar-Zlotin, M., Rozovski, U. et al. Indications for genetic testing leading to termination of pregnancy. Arch Gynecol Obstet 300, 1221–1225 (2019). https://doi.org/10.1007/s00404-019-05289-4
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00404-019-05289-4