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001-es BibID:	BIBFORM113080
035-os BibID:	(WOS)000928960000001 (Scopus)85147505425
Első szerző:	Steffensen, Ellen Hollands
Cím:	Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study / Ellen Hollands Steffensen, Anne Skakkebæk, Kasper Gadsbøll, Olav Bjørn Petersen, Thomas Westover, Heather Strange, The NIPT-SCA-map Study Group, Ida Vogel
Dátum:	2023
ISSN:	0197-3851
Megjegyzések:	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.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Prenatal Diagnosis. - 43 : 2 (2023), p. 144-155. -
További szerzők:	Skakkebæk, Anne Gadsbøll, Kasper Petersen, Olav Bjørn Westover, Thomas Strange, Heather Vogel, Ida Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) The NIPT-SCA-map Study Group
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