The First School of Clinical Medicine, Southern Medical University, Guangzhou 510515, China.
Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510620, China.
Genes (Basel). 2023 Mar 15;14(3):722. doi: 10.3390/genes14030722.
(1) Objective: To evaluate the application of chromosomal microarray analysis (CMA) in fetuses with pulmonary atresia (PA) and to explore the risk factors for predicting chromosomal imbalances and adverse perinatal outcomes. (2) Methods: This study investigated 428 cases of PA singleton pregnancies that were tested using CMA and quantitative fluorescent polymerase chain reaction (QF-PCR) as first-line genetic testing. The PA cases were divided into two groups: an isolated group and a non-isolated group. (3) Results: CMA revealed clinically relevant copy number variations (CNVs) in 9/139 (6.47%) PA fetuses, i.e., pathogenic copy number variations (pCNVs) in 8/139 (5.76%) fetuses and likely pathogenic CNVs in 1/139 (0.72%) fetuses. Stratified analysis showed that the incidence of clinically significant variants was higher in non-isolated PA fetuses than in isolated PA fetuses (12.50%, 6/48 vs. 3.30%, 3/91, = 0.036). Regression analysis showed that a combination of other structural abnormalities at diagnosis of PA represented the principal risk factor for chromosomal imbalances (OR = 2.672). A combination of other structural abnormalities and a high maternal age increased the risk of adverse pregnancy outcomes in PA cases, including intrauterine fetal death (IUFD), termination of pregnancy (TOP), and preterm delivery. (4) Conclusions: The value of CMA for locating imbalanced genetic variations in fetuses with PA was highlighted by this study, particularly when combined with additional structural abnormalities.
（1）目的：评估染色体微阵列分析（CMA）在肺动脉闭锁（PA）胎儿中的应用，探讨预测染色体不平衡和不良围产结局的危险因素。（2）方法：本研究调查了 428 例经 CMA 和定量荧光聚合酶链反应（QF-PCR）作为一线遗传检测的 PA 单胎妊娠。将 PA 病例分为两组：孤立组和非孤立组。（3）结果：CMA 在 9/139（6.47%）例 PA 胎儿中发现了临床相关的拷贝数变异（CNVs），即 8/139（5.76%）胎儿存在致病性拷贝数变异（pCNVs），1/139（0.72%）胎儿存在可能致病性 CNVs。分层分析显示，非孤立性 PA 胎儿中临床意义显著变异的发生率高于孤立性 PA 胎儿（12.50%，6/48 比 3.30%，3/91，=0.036）。回归分析显示，PA 诊断时存在其他结构性异常的组合是染色体不平衡的主要危险因素（OR=2.672）。其他结构性异常和高龄母亲的组合增加了 PA 病例不良妊娠结局的风险，包括宫内胎儿死亡（IUFD）、终止妊娠（TOP）和早产。（4）结论：本研究强调了 CMA 在定位 PA 胎儿不平衡遗传变异中的价值，尤其是与其他结构性异常结合时。
