Related Experiment Video
Updated: Jul 23, 2025
00:09
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
9.5K
Prenatal Screening for Microdeletions and Rare Autosomal Aneuploidies
Desiree Fiorentino1, Pe'er Dar
1Division of Fetal Medicine, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York.
Clinical Obstetrics and Gynecology
|July 13, 2023
Summary
Noninvasive prenatal screening using cell-free DNA can now detect rare genetic conditions beyond common aneuploidies. This review examines the performance data for detecting microdeletions and copy number variants, informing medical society guidelines.
Area of Science:
- Genetics
- Molecular Biology
- Prenatal Diagnostics
Background:
- Noninvasive prenatal screening (NIPS) with cell-free DNA (cfDNA) is a primary method for detecting common fetal aneuploidies.
- Laboratory advancements enable interrogation of the entire fetal genome via cfDNA.
- Commercial labs increasingly offer expanded panels for rare autosomal aneuploidies and copy number variants (CNVs).
Conclusions:
- Expanded cfDNA screening panels offer potential for detecting a wider range of fetal genetic abnormalities.
- Further research and standardization are needed to optimize cfDNA screening for rare aneuploidies and CNVs.
- Clinical utility and cost-effectiveness of expanded NIPS require ongoing evaluation and guideline development.
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