Alizary Areej, Ahmad Khabir, Al Bakri Amani
Ocular Genetic Services, King Khaled Eye Specialist Hospital, Alfaisal University, Riyadh, Saudi Arabia.
Ophthalmic Epidemiology, King Khaled Specialist Eye Hospital, Riyadh, Saudi Arabia.
Saudi J Ophthalmol. 2023 Oct 24;37(4):296-300. doi: 10.4103/sjopt.sjopt_154_23. eCollection 2023 Oct-Dec.
This study reports parental attitudes towards preimplantation genetic diagnosis (PGD) and their satisfaction with genetic counseling services offered by a territory eye care hospital in Saudi Arabia.
This was a cross-sectional study of 30 parents (either father or mother) of children affected by recessive genetic ocular disorders. Their basic knowledge of recessive genetic disorders, attitude toward PGD, and satisfaction with counseling services were assessed using structured telephonic interviews.
Eighty percent of the participants understood the concept of recessive inheritance patterns and the effect of consanguineous marriages on raising the likelihood of giving birth to a child with genetic disorders. Forty-seven percent of parents understood the risk of having an affected future offspring. Sixty-seven percent of them mentioned that they would consider using preventive measures when conceiving next time. Seventy-three percent of participants stated that they would share the genetic test results with family members. Ninety percent of the parents were satisfied with the genetic counselor's ability to listen to them and the way the counselor explained the genetic information. There was a statistically significant association between parental willingness to share genetic test results with relatives and being given the opportunity to share information with their genetic counselor ( = 0.01). There was no association between the parental's knowledge and their willingness to consider using preventative measures in the next pregnancy.
Most parents had a basic understanding of recessive disease. However, they often struggled to comprehend the science and mathematical probabilities determining the recurrence risk in future pregnancies. This complexity makes it difficult for them to recall the information. Attitude toward PGD did not seem to be related with parent knowledge. A significant proportion of the parents expressed willingness to share their genetic test results with relatives, but some were hesitant due to fears of stigma. Most parents were satisfied with genetic counseling services.
本研究报告了沙特阿拉伯一家地区眼科医院的父母对植入前基因诊断（PGD）的态度以及他们对所提供的遗传咨询服务的满意度。
这是一项对30名患有隐性遗传性眼部疾病儿童的父母（父亲或母亲）进行的横断面研究。通过结构化电话访谈评估他们对隐性遗传疾病的基本知识、对PGD的态度以及对咨询服务的满意度。
80%的参与者理解隐性遗传模式的概念以及近亲结婚对生育患有遗传疾病孩子可能性的影响。47%的父母理解生育未来患病后代的风险。67%的人提到他们下次怀孕时会考虑采取预防措施。73%的参与者表示他们会与家庭成员分享基因检测结果。90%的父母对遗传咨询师倾听他们的能力以及咨询师解释遗传信息的方式感到满意。父母与亲属分享基因检测结果的意愿与有机会与遗传咨询师分享信息之间存在统计学上的显著关联（P = 0.01）。父母的知识水平与他们下次怀孕时考虑采取预防措施的意愿之间没有关联。
大多数父母对隐性疾病有基本的了解。然而，他们常常难以理解决定未来怀孕复发风险的科学和数学概率。这种复杂性使得他们难以回忆起这些信息。对PGD的态度似乎与父母的知识无关。相当一部分父母表示愿意与亲属分享他们的基因检测结果，但有些人由于担心污名化而犹豫不决。大多数父母对遗传咨询服务感到满意。
