Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Maternal-Fetal Medicine, University of California, San Francisco, California, USA.
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA.
Prenat Diagn. 2022 May;42(5):611-616. doi: 10.1002/pd.6109. Epub 2022 Feb 8.
Chromosomal microarray (CMA) increases the diagnostic yield of prenatal genetic diagnostic testing but is not universally performed. Our objective was to identify provider and patient characteristics associated with the acceptance of CMA at the time of prenatal genetic diagnostic testing.
Retrospective cohort study of patients undergoing prenatal genetic diagnostic testing (chorionic villus sampling or amniocentesis) at a single institution between 2014 and 2020. Primary outcome was the acceptance of CMA based on the genetic counselor ,GC who saw the patient. Secondary analyses assessed patient characteristics associated with the acceptance of CMA.
2372 participants were included. Fifty-eight percent of participants accepted CMA. Acceptance of CMA varied significantly by GC, ranging from 31% to 90%. Patients with public insurance and those who identified as Black or Hispanic/Latina were less likely to have CMA performed (aOR 0.24, 95% CI 0.20-0.30, and 0.68, 95% CI 0.50-0.92). Even among those with a structural anomaly present, public insurance was associated with significantly lower odds of CMA being performed (aOR 0.39, 95% CI 0.25-0.61).
Acceptance of CMA at the time of prenatal genetic diagnostic testing varied based on the GC performing the counseling. Public insurance was associated with lower frequency of accepting CMA.
染色体微阵列（CMA）提高了产前遗传诊断检测的诊断产量，但并非普遍进行。我们的目的是确定与产前遗传诊断检测时接受 CMA 相关的提供者和患者特征。
对 2014 年至 2020 年期间在一家机构接受产前遗传诊断检测（绒毛膜绒毛取样或羊膜穿刺术）的患者进行回顾性队列研究。主要结局是根据为患者提供咨询服务的遗传咨询师（GC）接受 CMA 的情况。次要分析评估了与接受 CMA 相关的患者特征。
共纳入 2372 名参与者。58%的参与者接受了 CMA。GC 的不同，接受 CMA 的情况存在显著差异，范围从 31%到 90%。有公共保险的患者和自认为是黑人或西班牙裔/拉丁裔的患者接受 CMA 的可能性较低（aOR 0.24，95%CI 0.20-0.30 和 0.68，95%CI 0.50-0.92）。即使在存在结构异常的患者中，公共保险与 CMA 接受率显著降低相关（aOR 0.39，95%CI 0.25-0.61）。
在进行产前遗传诊断检测时，接受 CMA 的情况因进行咨询的 GC 而异。公共保险与接受 CMA 的频率较低相关。
