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Prenatal and fetal diagnosis of trisomy 18 after low‐risk cell‐free fetal DNA screening: A report of four cases

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Non‐Invasive Prenatal Screening (NIPS) is a useful screening method for common aneuploidies that can occur in pregnancies. It yields high sensitivities and specificities for the targeted conditions it tests for.… Click to show full abstract

Non‐Invasive Prenatal Screening (NIPS) is a useful screening method for common aneuploidies that can occur in pregnancies. It yields high sensitivities and specificities for the targeted conditions it tests for. Most commonly, these include Trisomies in chromosomes 21, 18, and 13, as well as aneuploidies in chromosomes X and Y. It does not, however, replace diagnostic testing. We review four cases seen by our institutions of patients who had NIPS performed with low‐risk results and subsequently had fetuses affected with trisomy 18.

Keywords: four cases; low risk; prenatal fetal; fetal diagnosis

Journal Title: Prenatal Diagnosis
Year Published: 2022

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