Research question

Despite the increasing use of preimplantation genetic testing (PGT) for aneuploidy and monogenic diseases, for children conceived using PGT there is limited follow-up beyond 2 years of age. This study examined the health, well-being and development of school-aged children (5–8 years old) conceived following PGT.

Design

Retrospective cohort study of children conceived after IVF with PGT (exposed cohort) and children conceived after IVF without PGT (unexposed cohort) at two IVF clinics in Melbourne, born between 2000 and 2008, recruited with a 1:2 ratio. Mothers of the children completed a questionnaire asking child-specific questions regarding health and well-being, mental health, development, educational achievement and family-specific questions regarding family functioning and parent–child attachment.

Results

A total of 155 participants were recruited to the PGT cohort and 303 participants to the IVF-only cohort. There were no differences between the two cohorts with regards to maternal characteristics, birth defect frequency and pregnancy characteristics, apart from delivery by Caesarean section, which was more frequent in PGT singletons (55%) compared with IVF-only singletons (36%). While no significant differences between the PGT and IVF-only cohorts were found for the majority of general health and psychological scales, there were differences when compared with population data. Children in the exposed cohort appeared to have more positive outcomes in many of the measures.

Conclusion

The data from this study suggest that PGT does not cause adverse outcomes in children. However, the nature (self-report) and small sample size of the study must be taken into consideration when interpreting the data.

中文翻译：

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胚胎植入前基因检测后的儿童健康

研究问题

尽管越来越多地使用胚胎植入前基因检测 (PGT) 检测非整倍体和单基因疾病，但对于使用 PGT 怀孕的儿童，2 岁以上的随访有限。本研究调查了 PGT 后怀孕的学龄儿童（5-8 岁）的健康、福祉和发育。

设计

2000 年至 2008 年间出生于墨尔本的两个 IVF 诊所，以 1:2 的比例招募了对 IVF 后受孕的 PGT（暴露队列）和 IVF 后未受 PGT 受孕的儿童（未暴露队列）的回顾性队列研究。孩子的母亲完成了一份问卷，询问有关健康和福祉、心理健康、发展、教育成就的儿童特定问题以及有关家庭功能和亲子依恋的家庭特定问题。

结果

共有 155 名参与者被招募到 PGT 队列，303 名参与者被招募到仅试管婴儿队列。除了剖腹产分娩外，两个队列在母体特征、出生缺陷频率和妊娠特征方面没有差异，剖腹产在 PGT 单胎中 (55%) 与仅 IVF 单胎 (36%) 相比更频繁。虽然在大多数一般健康和心理量表上没有发现 PGT 和仅试管婴儿队列之间的显着差异，但与人口数据相比存在差异。在许多措施中，暴露组中的儿童似乎有更积极的结果。

结论

该研究的数据表明 PGT 不会对儿童造成不良后果。但是，在解释数据时必须考虑研究的性质（自我报告）和小样本量。