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Noninvasive prenatal genetic testing, which utilizes cell-free fetal DNA and advances in sequencing technology, is revolutionizing the practice of obstetrics. While currently used as a screen for a limited number of aneuploidies and genetic conditions, noninvasive testing is anticipated to employ whole fetal exome and genome sequencing to identify not only monogenic disorders but also microduplications, microdeletions, and variants of uncertain clinical significance.

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