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Am J Perinatol 2025; 42(16): 2139-2145
DOI: 10.1055/a-2566-9262
Original Article

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

Authors

  • 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
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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

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