Affiliation:
1. Hackensack University Medical Center Hackensack New Jersey USA
2. Hackensack Meridian School of Medicine Nutley New Jersey USA
Abstract
Key pointsWhat is already known?
Noninvasive prenatal screening (NIPS) for monogenic conditions is now available, and patients commonly pursue this despite normal sonographic findings or the absence of pertinent family history.
What does this study add?
This case underscores the limitations of NIPS for monogenic conditions in low‐risk populations and the importance of pre‐ and post‐test genetic counseling, family history, and parental testing.
Further research is needed to determine the clinical utility of NIPS for single gene disorders in low‐risk populations.
Reference17 articles.
1. American College of Obstetrics and Gynecology.Screening for Fetal Chromosomal Abnormalities [Internet].https://www.acog.org/clinical/clinical‐guidance/practice‐bulletin/articles/2020/10/screening‐for‐fetal‐chromosomal‐abnormalities
2. American College of Obstetrics and Gynecology.Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine [Internet].https://www.acog.org/clinical/clinical‐guidance/committee‐opinion/articles/2017/03/carrier‐screening‐in‐the‐age‐of‐genomic‐medicine
3. Non-invasive prenatal diagnosis and screening for monogenic disorders
4. Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways
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