Journal article

Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review

Lisa Hui, Emma Szepe, Jane Halliday, Celine Lewis

PRENATAL DIAGNOSIS | WILEY | Published : 2020

Abstract

The field of prenatal screening and diagnosis for fetal anomalies has been marked by a rapid succession of technological advances, including most notably, chromosomal microarray analysis, and next generation sequencing. Despite the diagnostic advantages of these technologies, their incorporation into prenatal testing has created additional challenges of revealing genomic variants of unknown or uncertain significance, and secondary findings. While detailed posttest counseling about uncertain variants is best performed by medical geneticists, many of the screening and diagnostic tests that lead to this information are actually ordered by general maternity health care professionals (HCPs), such..

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