Fetal Diagnosis and Therapy
Original Paper
Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical PracticeKornman L.a,e,h · Palma-Dias R.a,e,h · Nisbet D.a, h · Scott F.b, g · Menezes M.c, d · da Silva Costa F.c,e,i · McLennan A.b, faWomen's Ultrasound Melbourne, East Melbourne, VIC, bSydney Ultrasound for Women, Sydney, NSW, cMonash Ultrasound for Women, Richmond, VIC, dMurdoch Children's Research Institute and eUniversity of Melbourne, Parkville, VIC, fSydney University, Sydney, NSW, gUniversity of New South Wales, Kensington, NSW, hThe Royal Women's Hospital, Parkville, VIC, and iPerinatal Services, Monash Medical Centre, Clayton, VIC, Australia
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Article / Publication Details
Received: January 05, 2017
Accepted: July 06, 2017
Published online: September 06, 2017
Issue release date: August 2018
Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 2
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
Abstract
Objectives: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. Methods: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. Results: NIPT screening was performed in 5,267 singleton pregnancies. The odds of being affected given a positive screening result (OAPR) was lowest for SCAs, most notably for monosomy X (20%). Fewer women underwent invasive prenatal testing when counselled regarding a high risk for SCA (65.5%) compared with those who had a high risk for another aneuploidy (85%). The positive screening rate of NIPT including SCA was 2.3%, but 1.2% if only the autosomal trisomies were included in the panel. Conclusion: The addition of SCA testing to NIPT doubles the positive screening rate. The OAPR for SCAs (most notably for monosomy X) is reduced compared with the autosomal trisomies. Clinicians need a more extensive discussion with women prior to the inclusion of the X and Y chromosomes in the NIPT panel, given the complexity in counselling regarding further management and the additional anxiety that these abnormal results may cause. A benefit of sex chromosome analysis is an improvement in antenatal diagnosis of some disorders of sexual development.
© 2017 S. Karger AG, Basel
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Article / Publication Details
Received: January 05, 2017
Accepted: July 06, 2017
Published online: September 06, 2017
Issue release date: August 2018
Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 2
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
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