Osman Noura, Rhee Laila, Boe Nina, Hedriana Herman, Singh Krishna
UC Davis Health Prenatal Diagnosis of Northern California, Sacramento, CA (Osman, Rhee, Boe, Hedriana, and Singh).
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, UC Davis Health, Sacramento, CA (Hedriana and Singh).
AJOG Glob Rep. 2025 May 5;5(2):100503. doi: 10.1016/j.xagr.2025.100503. eCollection 2025 May.
The American College of Medical Genetics recommends extensive carrier screening among consanguineous couples, yet limited information is available regarding its performance among specific populations. We describe the potential utility of a large expanded carrier screening panel (>500 genes) for Afghan couples with consanguinity.
A retrospective chart review was conducted of all patients who reported consanguinity and had genetic counseling consultation between 2010 and 2021 at our institution.
Thirty-six women of Afghan descent reported consanguinity. Nineteen (53%) did not have known autosomal recessive disease risk (no prior fetus/child with suspected syndrome), 11 (31%) had apparent disease risk (fetus/child with symptoms suggesting syndrome but no specific diagnosis), and six (17%) had known molecular diagnosis for a prior child with a recessive syndrome. Of the six women with known molecular diagnosis for prior child with syndrome, five had known pathogenic variants confirming a genetic disorder, and one had highly suspicious variant of uncertain significance in the family. Among these six, five (83%) could have been identified with a 787-gene prenatal carrier screening panel.
Large, expanded carrier screening panel appears to be an effective method for identifying disorders among consanguineous Afghan couples and should ideally be considered preconceptionally.
美国医学遗传学学会建议对近亲夫妇进行广泛的携带者筛查，但关于其在特定人群中的表现的信息有限。我们描述了一个大型扩展携带者筛查面板（>500个基因）对有血缘关系的阿富汗夫妇的潜在效用。
对2010年至2021年期间在我们机构报告有血缘关系并接受遗传咨询的所有患者进行回顾性病历审查。
36名阿富汗裔女性报告有血缘关系。19名（53%）没有已知的常染色体隐性疾病风险（之前没有疑似综合征的胎儿/儿童），11名（31%）有明显的疾病风险（胎儿/儿童有提示综合征的症状但没有具体诊断），6名（17%）对之前患有隐性综合征的孩子有已知的分子诊断。在这6名对之前患有综合征的孩子有已知分子诊断的女性中，5名有已知的致病变异证实患有遗传疾病，1名在家族中有意义不确定的高度可疑变异。在这6名中，5名（83%）可以通过一个787基因的产前携带者筛查面板被识别出来。
大型扩展携带者筛查面板似乎是识别近亲阿富汗夫妇中疾病的有效方法，理想情况下应在孕前考虑。
