Download PDF
Am J Perinatol
DOI: 10.1055/a-2566-9262
Original Article

Trends in Invasive Prenatal Testing, Diagnosis, and Abortion for Fetal Aneuploidy

Elizabeth Arruda
1   College of Medicine, Medical University of South Carolina, Charleston, South Carolina
,
Jamison Lee
2   Department of Obstetrics and Gynecology, Medical University of South Carolina, Charleston, South Carolina
,
Kayla Shine
1   College of Medicine, Medical University of South Carolina, Charleston, South Carolina
,
Roger Newman
2   Department of Obstetrics and Gynecology, Medical University of South Carolina, Charleston, South Carolina
,
Angela Dempsey
2   Department of Obstetrics and Gynecology, Medical University of South Carolina, Charleston, South Carolina
,
Eliza R. McElwee 
2   Department of Obstetrics and Gynecology, Medical University of South Carolina, Charleston, South Carolina
› Author Affiliations
› Further Information
Also available at
    Permissions and Reprints

Abstract

Objective

We aimed to assess trends in prenatal testing for aneuploidy, including indications, diagnostic yield, and the timing of diagnosis and abortions since the introduction of cell-free DNA (cfDNA) into routine prenatal care.

Study Design

In this observational retrospective study, all invasive prenatal diagnostic procedures performed at a single institution from 2010 to 2022 were evaluated. Clinical variables included gestational age (GA) at testing, indications, results, and pregnancy outcomes (continuation or abortion). Description statistics were used to characterize the sample.

Results

A total of 1,262 diagnostic procedures were performed during the study period, with 20.5% (n = 258) confirming genetic abnormalities. Amniocentesis accounted for 70.4% (n = 888) of diagnostic procedures, while 29.6% underwent chorionic villus sampling (CVS; n = 374). The number of procedures decreased significantly over time (p < 0.001). Indications for testing shifted dramatically; testing for the indication of advanced maternal age alone fell from 45 to 5.6% (p < 0.001). Patients with abnormal cfDNA screening results underwent diagnostic testing at an earlier average gestational age (15.3 vs. 17.8 weeks; p < 0.001), had a higher likelihood of undergoing CVS (30.7 vs. 8.9%; p < 0.001), and had higher rates of abnormal cytogenetics (60.4 vs. 13.2%; p < 0.001) compared to patients with analyte testing. Patients diagnosed with aneuploidy following abnormal cfDNA underwent abortion at earlier GA (15.5 vs.19.3 weeks; p = 0.002).

Conclusion

cfDNA screening has reduced prenatal invasive diagnostic procedures and shifted testing indications. Abnormal cfDNA screening is associated with a higher diagnostic yield and earlier GA at diagnosis and abortion after confirmation of aneuploidy. Despite these advances, aneuploidy diagnosis continues to extend into the second trimester, highlighting ongoing challenges in early detection.

Key Points

  • The introduction of cfDNA has reduced rates of invasive diagnostic procedures, shifting the most frequent indications for testing from advanced maternal age to abnormal ultrasound findings.

  • Despite the use of cfDNA screening at earlier gestational ages compared with traditional analyte testing, the gestational age at which diagnostic procedures and abortions are performed for fetal aneuploidy has remained in the second trimester.

  • Although cfDNA testing leads to earlier and more frequent identification of aneuploidy, confirmation of abnormal results often occurs after gestational age thresholds for abortion in many states.

Keywords

fetal aneuploidy - CVS - amniocentesis - prenatal diagnosis - abortion - prenatal screening

Note

The findings were presented at the Society of Maternal Fetal Medicine 44th Annual Pregnancy Meeting, National Harbor, Maryland in February 2024.


Authors' Contributions

All authors contributed to the manuscript substantially and have agreed to the final submitted version. E.R.M. was involved in conceptualizing, designing, analyzing, and interpreting data. R.N. and A.D. contributed to analysis, interpretation, and drafting. J.L., E.A., and K.S. substantially contributed to the acquisition, analysis, and drafting of the manuscript.


Ethical Statement

This study was approved by the Medical University of South Carolina Institutional Review Board (IRB), with IRB study number 00121930; date of approval July 7, 2022. No additional ethics approval is applicable.




Publication History

Received: 07 March 2025

Accepted: 25 March 2025

Article published online:
30 April 2025

© 2025. Thieme. All rights reserved.

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 

  • References

  • 1 Rose NC, Kaimal AJ, Dugoff L, Norton ME. American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Obstetrics, Committee on Genetics, Society for Maternal-Fetal Medicine. Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226. Obstet Gynecol 2020; 136 (04) e48-e69
    CrossrefPubMedSearch in Google Scholar
  • 2 Hassold T, Hall H, Hunt P. The origin of human aneuploidy: where we have been, where we are going. Hum Mol Genet 2007; 16 Spec No. 2 (16) R203-R208
    PubMedSearch in Google Scholar
  • 3 Awomolo A, Palomares K, Garcia GH, Rosen T, Duzyj C, Ashkinadze E. Trends in invasive prenatal diagnostic testing at a single institution. Prenat Diagn 2018; 38 (10) 735-739
    PubMedSearch in Google Scholar
  • 4 Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013; 42 (01) 34-40
    PubMedSearch in Google Scholar
  • 5 Kim K, Craft LK. Non-invasive prenatal testing in mitigating concerns from invasive prenatal diagnostic testing: retrospective assessment of utility in an academic healthcare system in the US. BMJ Open 2022; 12 (06) e057658
    PubMedSearch in Google Scholar
  • 6 Hui L, Muggli EE, Halliday JL. Population-based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38 years of state-wide data. BJOG 2016; 123 (01) 90-97
    CrossrefPubMedSearch in Google Scholar
  • 7 Comas C, Echevarria M, Rodríguez I, Serra B, Cirigliano V. Prenatal invasive testing: a 13-year single institution experience. J Matern Fetal Neonatal Med 2014; 27 (12) 1209-1212
    PubMedSearch in Google Scholar
  • 8 Khalifeh A, Weiner S, Berghella V, Donnenfeld A. Trends in invasive prenatal diagnosis: effect of sequential screening and noninvasive prenatal testing. Fetal Diagn Ther 2016; 39 (04) 292-296
    PubMedSearch in Google Scholar
  • 9 Forabosco A, Percesepe A, Santucci S. Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses. Eur J Hum Genet 2009; 17 (07) 897-903
    PubMedSearch in Google Scholar
  • 10 Hook EB. Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol 1981; 58 (03) 282-285
    PubMedSearch in Google Scholar
  • 11 Srebniak MI, Joosten M, Knapen MFCM. et al. Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis. Ultrasound Obstet Gynecol 2018; 51 (04) 445-452
    PubMedSearch in Google Scholar
  • 12 Lefkowitz RB, Tynan JA, Liu T. et al. Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants. Am J Obstet Gynecol 2016; 215 (02) 227.e1-227.e16
    PubMedSearch in Google Scholar
  • 13 Ehrich M, Tynan J, Mazloom A. et al. Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases. Genet Med 2017; 19 (12) 1332-1337
    PubMedSearch in Google Scholar
  • 14 Raymond MB, Barbera JP, Boudova S. et al. Implications for prenatal genetic testing in the United States after the reversal of Roe v Wade. Obstet Gynecol 2023; 141 (03) 445-454
    PubMedSearch in Google Scholar
  • 15 Diedrich JT, Drey EA, Newmann SJ. Society of Family Planning clinical recommendations: cervical preparation for dilation and evacuation at 20-24 weeks' gestation. Contraception 2020; 101 (05) 286-292
    CrossrefPubMedSearch in Google Scholar
  • 16 Allen RH, Goldberg AB. Cervical dilation before first-trimester surgical abortion (<14 weeks' gestation). Contraception 2016; 93 (04) 277-291
    PubMedSearch in Google Scholar
  • 17 Spingler T, Sonek J, Hoopmann M, Prodan N, Abele H, Kagan KO. Complication rate after termination of pregnancy for fetal defects. Ultrasound Obstet Gynecol 2023; 62 (01) 88-93
    PubMedSearch in Google Scholar
  • 18 Norton ME, Jackson M. Practice bulletin no. 162 prenatal diagnostic testing for genetic disorders. Obstet Gynecol 2016; 127 (05) 108-122
    CrossrefPubMedSearch in Google Scholar
  • 19 Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015; 45 (01) 16-26
    CrossrefPubMedSearch in Google Scholar
  • 20 Botto LD, Olney RS, Mastroiacovo P. et al. Chorionic villus sampling and transverse digital deficiencies: evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies. Am J Med Genet 1996; 62 (02) 173-178
    PubMedSearch in Google Scholar
  • 21 Dobson LJ, Reiff ES, Little SE, Wilkins-Haug L, Bromley B. Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA). Prenat Diagn 2016; 36 (05) 456-462
    PubMedSearch in Google Scholar
  • 22 Gimovsky AC, Moreno SC, Nicholas S, Roman A, Weiner S. How many procedures does it take? Success of a CVS training program for maternal fetal medicine fellows. Prenat Diagn 2016; 36 (13) 1257-1260
    PubMedSearch in Google Scholar
  • 23 Warsof SL, Larion S, Abuhamad AZ. Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenat Diagn 2015; 35 (10) 972-979
    CrossrefPubMedSearch in Google Scholar
  • 24 Holliman K, Pluym ID, Grechukhina O. et al. Maternal-fetal medicine fellows' perception and comfort with obstetrical ultrasound and prenatal diagnosis. Am J Obstet Gynecol MFM 2022; 4 (03) 100601
    PubMedSearch in Google Scholar
  • 25 Nicholas S, Orzechowski K, Potti S, Baxter J, Berghella V, Weiner S. Early pregnancy failure as a training tool for chorionic villus sampling. Prenat Diagn 2013; 33 (11) 1110-1112
    PubMedSearch in Google Scholar
  • 26 Sabbath EL, McKetchnie SM, Arora KS, Buchbinder M. US obstetrician-gynecologists' perceived impacts of post-dobbs v Jackson State abortion bans. JAMA Netw Open 2024; 7 (01) e2352109
    PubMedSearch in Google Scholar
  • 27 Sagi-Dain L, Singer A, Segel R, Berger R, Kanengisser-Pines B, Maya I. The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening. Am J Obstet Gynecol 2021; 225 (03) 333.e1-333.e14
    PubMedSearch in Google Scholar
  • 28 Sagi-Dain L, Salzer Sheelo L, Brabbing-Goldstein D. et al. Chromosomal microarray analysis compared with noninvasive prenatal testing in pregnancies with abnormal maternal serum screening. Obstet Gynecol 2022; 139 (05) 877-887
    PubMedSearch in Google Scholar
  • 29 Van den Veyver IB, Chandler N, Wilkins-Haug LE, Wapner RJ, Chitty LS. ISPD Board of Directors. International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. Prenat Diagn 2022; 42 (06) 796-803
    PubMedSearch in Google Scholar