The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, University of Texas, Houston, Texas.
Department of Pediatric Development and Rehabilitation, Randall Children's Hospital at Legacy Emanuel, Portland, Oregon.
Prenat Diagn. 2019 Apr;39(5):351-360. doi: 10.1002/pd.5435. Epub 2019 Feb 28.
We evaluated what prenatal genetic counselor's (GCs) practices, attitudes, and barriers are in regards to prenatal microarray since the publication of the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) guidelines for microarray use.
This was a survey-based cross-sectional study of English-speaking, board certified or eligible GCs who currently practice prenatal genetic counseling.
Of 192 respondents, 183 (95%) have incorporated chromosome microarray (CMA) into clinical practice, with 64% believing that the benefits of CMA outweigh the harms and 52% agreeing that CMA should be offered to all women regardless of indication. Those who reported being experts/comfortable in their knowledge of CMA (85%) and familiar with current clinical guidelines (86%) were significantly more likely to offer CMA to patients undergoing invasive testing and patients with fetal anomalies. Patient-specific concerns were the largest reported barrier (51%) when GCs do not offer CMA to patients.
Our study demonstrates GCs follow guidelines for CMA use when specific indications are involved, but further guidelines are needed regarding CMA use for other routine indications where utility of CMA is not clearly understood. On this basis, ACOG and SMFM should continue revising their guidelines as more information comes to light regarding utility of prenatal CMA for all indications, and organizations like the National Society of Genetic Counselors (NSGC) should consider publishing guidelines on prenatal CMA that are specialized to the GCs sphere of practice.
自美国妇产科医师学会(ACOG)和母胎医学学会(SMFM)发布微阵列使用指南以来,我们评估了产前遗传咨询师(GC)在产前微阵列方面的实践、态度和障碍。
这是一项基于调查的横断面研究,对象为目前从事产前遗传咨询的英语为母语、具有董事会认证或合格资格的 GC。
在 192 名受访者中,有 183 名(95%)将染色体微阵列(CMA)纳入临床实践,其中 64%认为 CMA 的益处大于危害,52%同意无论适应症如何,都应向所有女性提供 CMA。那些报告自己在 CMA 知识方面是专家/感到舒适(85%)且熟悉当前临床指南(86%)的人,更有可能向接受侵入性检测的患者和有胎儿异常的患者提供 CMA。当 GC 不向患者提供 CMA 时,患者的具体担忧是最大的报告障碍(51%)。
我们的研究表明,GC 在涉及具体适应症时会遵循 CMA 使用指南,但对于其他常规适应症,需要进一步制定关于 CMA 使用的指南,因为 CMA 的效用尚未明确。在此基础上,ACOG 和 SMFM 应继续修订其指南,因为更多关于产前 CMA 对所有适应症的效用的信息将浮出水面,而像全国遗传咨询师协会(NSGC)这样的组织应考虑发布专门针对 GC 实践领域的产前 CMA 指南。