Alizary Areej, AlTheeb Abdulwahab, Hameed Syed, Almadani Bashaer, Abualkhair Shereen, Aljasim Leyla Ali
King Khalid Eye Specialist Hospital, Riyadh, Saudi Arabia.
J Genet Couns. 2025 Oct;34(5):e70087. doi: 10.1002/jgc4.70087.
This cross-sectional study evaluated the knowledge and understanding of basic genetic concepts, as well as the acceptance of screening and preventive measures, among 100 adult patients and/or parents of children with primary congenital glaucoma (PCG) at King Khalid Eye Specialist Hospital. The study population included 36 males and 64 females. Following genetic counseling sessions for participants who had received genetic test results, an assessment was conducted using structured telephone interviews. Parents and adult patients generally demonstrated an understanding of autosomal recessive conditions: 93% recognized the increased genetic risk associated with consanguinity, and 87% were aware that an unaffected individual may be a carrier of the mutation. However, approximately one-third still had difficulty understanding or recalling recurrence risks. There was moderate-to-high motivation among participants to engage in preventive actions. While 61% supported prenatal genetic screening (PGS), 78% expressed willingness to use preimplantation genetic diagnosis (PGD) to avoid having an affected child; reinforcing the need to fast-track a congenital glaucoma prevention program. Such an initiative would facilitate the identification of carriers prior to marriage, enabling informed decision-making regarding pregnancy management.
这项横断面研究评估了在哈利德国王眼科专科医院的100名成年原发性先天性青光眼（PCG）患者和/或患儿父母对基本遗传概念的了解和认识，以及对筛查和预防措施的接受程度。研究人群包括36名男性和64名女性。在为已收到基因检测结果的参与者进行遗传咨询后，通过结构化电话访谈进行了评估。父母和成年患者总体上对常染色体隐性疾病有所了解：93%的人认识到近亲结婚会增加遗传风险，87%的人知道未患病个体可能是突变携带者。然而，仍有大约三分之一的人在理解或回忆复发风险方面存在困难。参与者参与预防行动的积极性从中度到高度不等。虽然61%的人支持产前基因筛查（PGS），78%的人表示愿意使用植入前基因诊断（PGD）来避免生育患病孩子；这凸显了加快先天性青光眼预防计划的必要性。这样一项举措将有助于在婚前识别携带者，从而在妊娠管理方面做出明智的决策。
