Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants

Authors

• Blair K Stevens
• Sarah Araji
• Mohamad Ali Maktabi
• Randy Liu
• Lauren Westerfield
• Michael Wassef
• Dejian Lai
• Ignatia B Van den Veyver
• Meera Krishnan
• Charlotte Lawrence
• Siddharth K Prakash

Language

English

Publication Date

9-1-2026

Journal

Prenatal Diagnosis

DOI

10.1002/pd.70229

PMID

42542383

PMCID

PMC13571795

PubMedCentral® Posted Date

8-1-2026

PubMedCentral® Full Text Version

Post-print

Abstract

Objective: To assess socioeconomic and medical factors associated with prenatal confirmatory diagnostic testing after positive prenatal cell-free (cfDNA) screening for sex chromosome aneuploidies (SCA) in a diverse contemporary patient cohort.

Methods: We conducted a retrospective cohort study of patients who had abnormal prenatal cfDNA screening results indicative of SCA and were seen for genetic counseling between 2014 and 2024 at two tertiary academic medical centers. We used logistic regression analysis to evaluate the association of demographic and clinical factors with confirmatory testing.

Results: Of the 692 patients with abnormal cfDNA results, 26% (n = 180) underwent diagnostic testing. These patients were older, resided in more affluent areas, presented earlier for genetic counseling, were more likely to have commercial insurance, and were less likely to prefer Spanish or use an interpreter. Compared to Non-Hispanic (NH) Whites, diagnostic testing rates were higher for NH Asians but were lower for NH Blacks and Hispanics or when results indicated XYY or XXX. In logistic modeling, lower deprivation scores and commercial insurance were independently associated with higher testing rates.

Conclusion: Only 1 in 4 patients pursued prenatal diagnostic testing following positive cfDNA screening for SCAs. Race, ethnicity, socioeconomic status and preferred language were the primary determinants of testing.

Keywords

Humans, Female, Pregnancy, Adult, Retrospective Studies, Aneuploidy, Cell-Free Nucleic Acids, Socioeconomic Factors, Prenatal Diagnosis, Sex Chromosome Aberrations, cell‐free DNA screening, health disparities, prenatal diagnosis, sex chromosome aneuploidy, socioeconomic factors

Published Open-Access

yes

Recommended Citation

Stevens, Blair K; Araji, Sarah; Maktabi, Mohamad Ali; et al., "Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants" (2026). Faculty, Staff and Students Publications. 8681.
https://digitalcommons.library.tmc.edu/baylor_docs/8681