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Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing Potential
Allison Schartman1, Olivia Woods1, Leah Wetherill1
1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Prenatal Diagnosis
|January 24, 2026
Summary
Genome sequencing and exome sequencing offer high diagnostic yields for prenatal genetic testing. Current screening methods have limitations in detecting rare genetic conditions, suggesting a need to update guidelines for high-risk pregnancies.
Area of Science:
- Medical Genetics
- Prenatal Diagnostics
- Genomic Medicine
Background:
- Prenatal genetic testing is crucial for identifying genetic disorders in fetuses.
- Current screening guidelines, such as those from ACOG/ACMG, may not fully capture the spectrum of genetic conditions.
- Evaluating the diagnostic yield of various genetic tests is essential for optimizing prenatal care.
Purpose of the Study:
- To assess the diagnostic yield of different prenatal genetic testing strategies in infants with confirmed genetic diagnoses.
- To compare the effectiveness of genome sequencing, exome sequencing, chromosomal microarray analysis, NIPT, and carrier screening.
- To inform potential revisions of current prenatal genetic screening guidelines.
Main Methods:
- Retrospective review of infants with confirmed genetic diagnoses.
- Standardized genetic consultation and testing approach.
- Comparative analysis of predicted diagnostic yields for various prenatal genetic tools.
Main Results:
- Genome sequencing (96.9%) and exome sequencing (93.8%) demonstrated the highest diagnostic yields.
- Genome-wide non-invasive prenatal testing (NIPT) and comprehensive carrier screening detected a higher percentage of diagnoses compared to ACOG-recommended methods.
- A significant proportion (62%) of single-gene conditions remained undetectable with current prenatal screening tools.
Conclusions:
- Prenatal exome or genome sequencing provides high diagnostic yields and a streamlined approach.
- Chromosomal microarray analysis may not be the optimal first-line test for all cases.
- Current prenatal genetic screening has limitations for rare genetic conditions, supporting guideline revisions, especially for high-risk pregnancies.
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