Department of Gynaecology, University Hospital Antwerp, Edegem, Belgium.
Center for Medical Genetics, Universiteit Antwerpen, Antwerpen, Belgium.
Prenat Diagn. 2020 Sep;40(10):1272-1283. doi: 10.1002/pd.5751. Epub 2020 Jun 24.
Belgian genetic centers established a database containing data on all chromosomal microarrays performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV).
All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire.
A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner.
Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.
比利时遗传中心建立了一个数据库，其中包含所有在产前环境下进行的染色体微阵列的数据。本研究旨在评估产前诊断为非良性拷贝数变异（CNV）的儿童的产后发育情况。
所有 2013 年 5 月至 2015 年 2 月期间在比利时遗传中心产前诊断为非良性 CNV 的儿童均纳入患者人群。对照组由在怀孕期间接受过侵入性检查但无 CNV 或仅为良性 CNV 的儿童组成。使用三个（3）问卷在 36 个月时评估儿童的发育情况：年龄与阶段问卷第三版、年龄与阶段问卷社会情感第二版和一般问卷。
在报告的易感性 CNV 儿童与未报告的易感性 CNV 儿童和对照组儿童之间，在沟通和个人-社会发展方面存在显著差异。特定 CNV 的儿童的结果以个案方式进行讨论。
我们对产前检测到非良性 CNV 的儿童进行的产后随访项目是同类项目中的首例全国性项目。然而，需要为每个 CNV 类别增加更多的病例来确认我们的发现。
