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Indications for Invasive Prenatal Testing before and after Noninvasive Prenatal Screening
10 May 2017
11 May 2017
14 June 2017 (online)
Objective To evaluate changes in indications for genetic testing after introduction of noninvasive prenatal screening (NIPS) into a single center. Pregnancy outcomes and results of testing were evaluated.
Study Design It was a retrospective cohort study. Medical records were reviewed for all invasive testing procedures from January 1, 2007, to December 31, 2015. NIPS was introduced in February 1, 2012. Indications were compared before and after that date. Results of genetic testing and pregnancy outcome were also obtained from the medical records where available.
Results A total of 2,066 invasive diagnostic procedures were performed. Significantly fewer invasive procedures were performed per month following introduction of NIPS (23 vs. 13). Indications were less likely to be reported as advanced maternal age (AMA), abnormal genetic screening, and abnormal ultrasound findings following introduction of NIPS (p < 0.0001). No difference was noted for parental chromosome abnormality, risk of single-gene disorder, or prior child with aneuploidy. Tests performed after introduction of NIPS were more likely abnormal (16.3 vs. 27.6%; p < 0.0001).Total number of pregnancy terminations decreased (130 vs. 123); more were terminated after prenatal diagnosis following NIPS introduction (12.9 vs. 30.1%).
Conclusion Since the introduction of NIPS, fewer invasive tests are performed. Indications have changed since NIPS was introduced, becoming less common for AMA, abnormal genetic screening, and abnormal ultrasounds.
Keywordsnoninvasive prenatal screening - noninvasive prenatal testingamniocentesis - chorionic villus sampling
This paper was presented as a poster presentation at the 37th Annual Pregnancy Meeting, Society of Maternal-Fetal Medicine, January 23–28, 2017, Las Vegas, NV.
- 1 Fairbrother G, Burigo J, Sharon T, Song K. Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis. J Matern Fetal Neonatal Med 2016; 29 (07) 1160-1164
- 2 Mackie FL, Hemming K, Allen S, Morris RK, Kilby MD. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG 2017; 124 (01) 32-46
- 3 Hume H, Chasen ST. Trends in timing of prenatal diagnosis and abortion for fetal chromosomal abnormalities. Am J Obstet Gynecol 2015; 213 (04) 545.e1-545.e4
- 4 Stubblefield PG, Carr-Ellis S, Borgatta L. Methods for induced abortion. Obstet Gynecol 2004; 104 (01) 174-185
- 5 Bartlett LA, Berg CJ, Shulman HB. , et al. Risk factors for legal induced abortion-related mortality in the United States. Obstet Gynecol 2004; 103 (04) 729-737
- 6 Committee Opinion Summary No. 640: Cell-Free DNA Screening For Fetal Aneuploidy. Obstet Gynecol 2015; 126 (03) 691-692
- 7 Zelig CM, Knutzen DM, Ennen CS, Dolinsky BM, Napolitano PG. Chorionic villus sampling, early amniocentesis, and termination of pregnancy without diagnostic testing: comparison of fetal risk following positive non-invasive prenatal testing. J Obstet Gynaecol Can 2016; 38 (05) 441-445.e2
- 8 Bustamante-Aragonés A, Rodríguez de Alba M, Perlado S. , et al. Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Gene 2012; 504 (01) 144-149
- 9 Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obstet Gynecol 2014; 211 (06) 651.e1-651.e7
- 10 Williams III J, Rad S, Beauchamp S. , et al. Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing. Am J Obstet Gynecol 2015; 213 (01) 102.e1-102.e6
- 11 Vandenbroucke JP, von Elm E, Altman DG. , et al; STROBE Initiative. Strengthening the reporting of observational studies in epidemiology (STROBE): explanation and elaboration. Int J Surg 2014; 12 (12) 1500-1524
- 12 Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 2013; 33 (06) 542-546
- 13 Wax JR, Cartin A, Chard R, Lucas FL, Pinette MG. Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection. J Clin Ultrasound 2015; 43 (01) 1-6
- 14 Manegold-Brauer G, Berg C, Flöck A, Rüland A, Gembruch U, Geipel A. Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center. Arch Gynecol Obstet 2015; 292 (03) 543-548
- 15 Warsof SL, Larion S, Abuhamad AZ. Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenat Diagn 2015; 35 (10) 972-979