Lü Yan, Chang Jiazhen, Jiang Yulin, Zhou Xiya, Hao Na, Yu Yiqing, Li Mengmeng, Yin Kaili, Yang Xueting, Qi Qingwei
Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Prenat Diagn. 2025 Aug;45(9):1151-1159. doi: 10.1002/pd.6859. Epub 2025 Jul 18.
Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X-linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health. This study aimed to investigate the incidence of potentially affected individuals, with the objective of improving counseling for ECS.
A retrospective study of a cohort of 3001 individuals who sought ECS during early pregnancy or preconception was conducted. Potentially affected individuals carrying biallelic pathogenic variants for autosomal recessive diseases, as well as females carrying a heterozygous pathogenic variant for X-linked disease, were identified.
A total of 13 potentially affected individuals (0.43%) were identified; 5 patients were homozygous or compound heterozygous for autosomal recessive diseases, and 8 were heterozygous for X-linked diseases. The majority of the potentially affected individuals were asymptomatic (85%, 11/13) at the time of assessment. Only two patients exhibited mild clinical manifestations.
People who intend to undergo ECS should be informed that they themselves may be identified as potentially affected individuals for whom clinical evaluation and surveillance are recommended.
扩展携带者筛查（ECS）用于评估生育受常染色体隐性或X连锁隐性遗传病影响后代的可能性。极少数情况下，可能会发现一名看似健康的个体携带可能影响其健康的变异。本研究旨在调查潜在受影响个体的发生率，以改善对ECS的咨询。
对3001名在孕早期或孕前进行ECS的个体进行回顾性队列研究。识别出携带常染色体隐性疾病双等位基因致病变异的潜在受影响个体，以及携带X连锁疾病杂合致病变异的女性。
共识别出13名潜在受影响个体（0.43%）；5例患者为常染色体隐性疾病的纯合子或复合杂合子，8例为X连锁疾病的杂合子。大多数潜在受影响个体在评估时无症状（85%，11/13）。只有两名患者表现出轻微的临床表现。
应告知打算进行ECS的人，他们自己可能被识别为潜在受影响个体，建议对其进行临床评估和监测。
