背景:对于基因组拷贝数变异(CNV)的产前诊断后出生的婴儿,没有既定的随访指南,尽管他们增加了发展问题的风险。这项研究的目的是(i)确定诊断有和没有CNV的胎儿的围产期结局,和(ii)建立基于人群的儿科队列,以进行长期发育随访。
方法:对澳大利亚全州范围的研究数据库进行了筛选,以筛选在2013-2019年期间具有产前染色体微阵列(CMA)的孕妇。在与实验室记录和临床参考详细信息相关联之后,我们对医院记录进行了人工审查,以确定研究是否符合研究条件.符合条件的参与者是怀孕导致分娩的母子对,母亲能够提供英语知情同意书(不需要翻译),母亲是出生后出院时儿童的主要照顾者.研究邀请是在产前诊断测试后平均六年通过注册邮件发送的。在Stata17中进行统计学分析。
结果:在检查的1832份产前记录中,1364(74.5%)对母子有资格被招募到随访队列中。在没有资格的468人中,282例(60.3%)有“无活妊娠结局”(209例终止妊娠(TOP)和73例流产,死产,和婴儿死亡),157(33.5%)需要翻译,29人(6.2%)因其他原因被排除在外。TOP率根据检测到的胎儿CNV的类型而变化:致病性CNV的49.3%(109/221),18.2%(58/319)用于不确定显著性的变体,3.3%(42/1292)在CMA上没有临床显著的CNV报告。近77%的邀请函被成功送达(1047/1364),随访队列的后续参与率为19.2%(201/1047).
结论:本研究提供了澳大利亚首个基于人群的产前诊断CMA检测后围产期结局数据。对于那些产前诊断为CNV的人来说,相对较高的妊娠损失率为建立儿科队列以检查长期结局提出了挑战。通过产前确定招募母子队列是一个复杂且资源密集的过程,而是理解妊娠及以后CNV诊断的影响的重要一步。
背景:ACTRN12620000446965p;于2020年4月6日注册。
BACKGROUND: There are no established guidelines for the follow up of infants born after a prenatal diagnosis of a genomic copy number variant (CNV), despite their increased risk of developmental issues. The aims of this
study were (i) to determine the perinatal outcomes of fetuses diagnosed with and without a CNV, and (ii) to establish a population-based paediatric cohort for long term developmental follow up.
METHODS: An Australian state-wide research database was screened for pregnant individuals who had a prenatal chromosomal microarray (CMA) between 2013-2019 inclusive. Following linkage to laboratory records and clinical referrer details, hospital records were manually reviewed for
study eligibility. Eligible participants were mother-child pairs where the pregnancy resulted in a livebirth, the mother was able to provide informed consent in English (did not require a translator) and the mother was the primary caregiver for the child at hospital discharge after birth. Research invitations were sent by registered post at an average of six years after the prenatal diagnostic test. Statistical analysis was performed in Stata17.
RESULTS: Of 1832 prenatal records examined, 1364 (74.5%) mother-child pairs were eligible for recruitment into the follow up cohort. Of the 468 ineligible, 282 (60.3%) had \'no live pregnancy outcome\' (209 terminations of pregnancy (TOP) and 73 miscarriages, stillbirths, and infant deaths), 157 (33.5%) required a translator, and 29 (6.2%) were excluded for other reasons. TOP rates varied by the type of fetal CNV detected: 49.3% (109/221) for pathogenic CNVs, 18.2% (58/319) for variants of uncertain significance and 3.3% (42/1292) where no clinically significant CNV was reported on CMA. Almost 77% of invitation letters were successfully delivered (1047/1364), and the subsequent participation rate in the follow up cohort was 19.2% (201/1047).
CONCLUSIONS: This
study provides Australia\'s first population-based data on perinatal outcomes following prenatal diagnostic testing with CMA. The relatively high rates of pregnancy loss for those with a prenatal diagnosis of a CNV presented a challenge for establishing a paediatric cohort to examine long term outcomes. Recruiting a mother-child cohort via prenatal ascertainment is a complex and resource-intensive process, but an important step in understanding the impact of a CNV diagnosis in pregnancy and beyond.
BACKGROUND: ACTRN12620000446965p; Registered on April 6, 2020.