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<p>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), followed by SGDs (80%) and MMSs (67%). Confidence in test accuracy was lower, particularly for MMSs (55%). Routine use of NIPT for SCAs was supported by 88% of respondents. For SGDs, 47% endorsed routine use, while 45% recommended use only in specific contexts. Professional experience significantly predicted willingness to recommend NIPT for SGDs (OR = 1.15 per year, <i>p</i> = 0.017), independent of age or sex. Genetic counselors strongly support SCA screening and show conditional enthusiasm toward MMS and SGD testing. Experience-driven variation highlights the need for continued education, stronger validation data, and targeted policy development.</p>

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

  • 期刊论文

  • 发表日期：

    2026年1月22日

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  • Mariya Levkova,
  • Andreya Yaneva

摘要

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), followed by SGDs (80%) and MMSs (67%). Confidence in test accuracy was lower, particularly for MMSs (55%). Routine use of NIPT for SCAs was supported by 88% of respondents. For SGDs, 47% endorsed routine use, while 45% recommended use only in specific contexts. Professional experience significantly predicted willingness to recommend NIPT for SGDs (OR = 1.15 per year, p = 0.017), independent of age or sex. Genetic counselors strongly support SCA screening and show conditional enthusiasm toward MMS and SGD testing. Experience-driven variation highlights the need for continued education, stronger validation data, and targeted policy development.