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    In the setting of a normal first-trimester ultrasound, an amniocentesis may be a better option than chorionic villous sampling for invasive diagnostic testing after a cell-free DNA high risk for trisomy 13, given the high rates of confined placental mosaicism. In unaffected fetuses, other evaluations should be considered depending on the cell-free DNA results, including maternal karyotyping for monosomy X, uniparental disomy testing for chromosomes with imprinted genes, serial growth scans for trisomy 16, and a workup for maternal malignancy for multiple aneuploidies or autosomal monosomy. Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.


    Rosemary Rogers, Anne Mardy. Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing. Clinical obstetrics and gynecology. 2023 Sep 01;66(3):595-606

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    PMID: 37650670

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