Genetic counselors' perspectives on the expanded use of non-invasive prenatal testing.

ABSTRACT: Non-invasive prenatal testing (NIPT) is well established for detecting common autosomal aneuploidies. Its application to sex chromosome aneuploidies (SCAs), microdeletion/microduplication syndromes (MMSs), and single-gene disorders (SGDs) is expanding, yet opinions of genetic counselors on these indications remain variable. A cross-sectional web-based survey was conducted between October and December 2024 among 51 practicing genetic counselors across 14 countries. The 18-item questionnaire assessed perceived utility, analytic accuracy, and clinical appropriateness of NIPT for SCAs, MMSs, and SGDs. Responses were summarized using descriptive statistics, and ordinal logistic regression evaluated associations with demographic factors. Perceived utility was highest for SCAs (86% agreement), fo

SUBMITTER: Levkova M 

PROVIDER: S-EPMC12827827 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature