Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling

Prenatal Diagnosis
Holly L SnyderDiana W Bianchi

Abstract

To determine the underlying biological basis for noninvasive prenatal testing (NIPT) results of multiple aneuploidies or autosomal monosomies. Retrospective analysis of 113,415 tests to determine the study cohort, consisting of 138 (0.12%) cases reported as a single autosomal monosomy (n = 65), single trisomy with a sex chromosome aneuploidy (n = 36), or with multiple aneuploidies (n = 37). Clinical outcome information was reviewed and stratified into eight categories according to whether the karyotype or sonographic information agreed or disagreed with sequencing results. Of 67 cases with fetal or neonatal karyotypes available, 16 (24%) were partially or fully concordant with the NIPT result, 4 (6%) had aneuploidy on a reference chromosome, and 47 (70%) had normal fetal chromosomes, in which 5/47 had maternal malignancies reported. One case of maternal mosaic trisomy 8 was also detected. Of cases with no fetal karyotype information, ten had an abnormal clinical outcome, one was a normal live birth, and one reported maternal malignancy. Noninvasive prenatal test results of autosomal monosomy or multiple aneuploidies are rare but have a diversity of underlying biologic causes. Some reflect the fetal karyotype; some reflect the p...Continue Reading

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Citations

Apr 7, 2017·Prenatal Diagnosis·Tanja Schlaikjaer HartwigFinn Stener Jørgensen
Jun 28, 2017·Prenatal Diagnosis·Bernard J IlaganCharles M Strom
Feb 9, 2018·Obstetrics and Gynecology·Laura M CarlsonNeeta L Vora
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Dec 8, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Diana W Bianchi
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Mar 20, 2018·Pediatric Radiology·Kathryn J Gray, Louise E Wilkins-Haug
Apr 22, 2021·Prenatal Diagnosis·Rossa W K Chiu, Y M Dennis Lo

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