Centre Aliénor d'Aquitaine Maternity, CHU Bordeaux, Bordeaux, France.
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Prenat Diagn. 2018 Dec;38(13):1111-1119. doi: 10.1002/pd.5372. Epub 2018 Nov 22.
The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR).
We retrospectively included all fetuses with IUGR referred for prenatal testing and studied by rapid fluorescence in situ hybridization (FISH), karyotype, and CMA.
Among the 162 IUGR fetuses (78 associated and 84 isolated IUGR) included, 15 had an abnormal FISH result: 10 associated and five isolated fetal IUGRs. Among the 143 fetuses studied by CMA, 10 (7%) presented pathogenic copy number variations (CNVs). All 10 were in the associated fetal IUGR group (10/65 or 15.4%; 95% confidence interval [CI]: 8.4%-26.2%) versus 0/78 in the isolated fetal IUGR group (95% CI: 0%-5.6%). Six fetuses (4.2%) carried variants of unknown significance (VOUS) (three associated and three isolated fetal IUGRs).
Our study highlights the added value of CMA in the case of associated fetal IUGR with an incremental yield of 6.1% (4/65) over karyotyping. No pathogenic CNVs were reported in the isolated fetal IUGR group. More studies must be conducted to determine when and whether CMA would be wisely indicated in this population.
本研究旨在评估染色体微阵列分析（CMA）在诊断伴有或不伴有宫内生长受限（IUGR）的胎儿中的应用价值。
我们回顾性纳入了所有因 IUGR 而接受产前检测的胎儿，并对其进行快速荧光原位杂交（FISH）、核型分析和 CMA 检查。
在 162 例 IUGR 胎儿（78 例伴有 IUGR 和 84 例孤立性 IUGR）中，有 15 例 FISH 结果异常：10 例伴有 IUGR，5 例孤立性胎儿 IUGR。在 143 例接受 CMA 检查的胎儿中，有 10 例（7%）存在致病性拷贝数变异（CNVs）。所有 10 例均发生在伴有胎儿 IUGR 组（10/65 或 15.4%；95%置信区间[CI]：8.4%-26.2%），而在孤立性胎儿 IUGR 组中无 1 例（95%CI：0%-5.6%）。6 例（4.2%）携带意义不明的变异（VOUS）（3 例伴有胎儿 IUGR，3 例孤立性胎儿 IUGR）。
本研究强调了 CMA 在伴有胎儿 IUGR 中的附加价值，相对于核型分析，其阳性率增加了 6.1%（4/65）。孤立性胎儿 IUGR 组未报告致病性 CNVs。需要进一步开展更多研究以确定何时以及是否明智地在该人群中开展 CMA。
