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Updated: Oct 18, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Evaluating for disparities in prenatal genetic counseling
Diane Christopher1, Melanie Fringuello1, Angela J Fought1
1Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO.
Prenatal genetic counseling is less common for patients presenting later in pregnancy, particularly for carrier screening. Addressing disparities requires earlier access to prenatal care and targeted support for those entering care later.
Area of Science:
- Medical Genetics
- Obstetrics
- Public Health
Background:
- Prenatal genetic counseling is recommended for all pregnant individuals, covering aneuploidy and carrier screening.
- Previous research indicates racial and ethnic disparities in prenatal genetic testing completion.
- Few studies have examined disparities in the *offering* of these crucial genetic services.
Purpose of the Study:
- To evaluate disparities in prenatal genetic counseling by assessing its provision at the first prenatal visit.
- To determine if financial barriers are the primary driver of disparities in genetic counseling access.
Main Methods:
- Retrospective cross-sectional study of 1103 patients attending their first prenatal visit before 20 weeks' gestation.
- Patients completing prenatal genetic testing were categorized as counseled.
- Medical records were reviewed for counseling status (yes/no) for aneuploidy and carrier screening.
Main Results:
- 97.2% received aneuploidy counseling, but only 73.3% received carrier screening counseling.
- Later gestational age at presentation was linked to less aneuploidy and carrier screening counseling.
- Factors like younger maternal age, Black race, and single relationship status were associated with less aneuploidy counseling on univariate analysis.
Conclusions:
- Prenatal genetic counseling, especially for carrier screening, is less likely to be offered to patients presenting later in pregnancy.
- This disparity disproportionately affects less privileged women who are more likely to seek care later.
- Improving access to early prenatal care and developing specialized pathways for second-trimester entrants can mitigate these disparities.
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