Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study

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  • The NIPT-SCA-map Study Group
Objective
To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an update on the general implementation of NIPT.

Method
A questionnaire addressing the research objectives was distributed by email to fetal medicine and clinical genetics experts in Asia, Australia, Europe and the USA.

Results
Guidelines on NIPT are available in the majority of the included countries. Not all existing guidelines address reporting of fetal chromosomal sex and SCAs. In most settings, NIPT frequently includes sex chromosomes (five Australian states, China, Hong Kong, Israel, Singapore, Thailand, USA and 23 of 31 European countries). This occurs most often by default or when parents wish to know fetal sex. In most settings, a potential SCA is reported by stating the risk hereof as “low” or “high” and/or by naming the SCA. Less than 50% of all pregnant women receive NIPT according to respondents from three Australian states, China, Israel, Singapore, Thailand and 24 of 31 European countries. However, this percentage, the genomic coverage of NIPT and its application as primary or secondary screening vary by setting.

Conclusion
In most of the studied countries/states, NIPT commonly includes sex chromosomes. The reporting practices concerning fetal chromosomal sex and SCAs are diverse and most commonly not addressed by guidelines. In general, NIPT is variably implemented across countries/states.
OriginalsprogEngelsk
TidsskriftPrenatal Diagnosis
Vol/bind43
Udgave nummer2
Sider (fra-til)144-155
Antal sider12
ISSN0197-3851
DOI
StatusUdgivet - 2023

Bibliografisk note

Funding Information:
We appreciate the contributions made by the NIPT‐SCA‐map study group for this research. Ellen Hollands Steffensen is funded by the faculty of Health at Aarhus University, the Health Research Fund of Central Denmark Region (A2602), and Helsefonden (20‐B‐0065). Anne Skakkebæk is funded by the Independent Research Fund Denmark (0134‐00130B). Olav Bjørn Petersen holds a professorship funded by the Novo Nordisk Foundation (grant NNFSA170030576). Heather Strange is funded by Health and Care Research Wales (HRG‐18 1507). Ida Vogel is funded by the Novo Nordisk Foundation (NNF16OC0018772).

Publisher Copyright:
© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.

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