Department of the Prenatal Diagnosis Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Aging (Albany NY). 2020 Aug 15;12(15):15556-15565. doi: 10.18632/aging.103575.
Because the numbers of detected fetal abnormalities increase as gestation progresses, we evaluated the safety and efficacy of cordocentesis for single nucleotide polymorphism (SNP) analysis tests in 754 women during third trimester pregnancy. Conventional karyotyping was performed on all fetuses, and Affymetrix CytoScan HD was used for SNP-array testing. In addition to the 24 cases with chromosomal abnormalities detected with conventional karyotyping analysis, the SNP-array test identified 56 (7.4%) cases with normal karyotypes but abnormal copy number variations (CNVs). Of those, 24 were pathogenic CNVs and 32 were of uncertain clinical significance. In 742 of the cases, there were abnormal sonographic findings, and cytogenetic abnormalities were detected in 76 cases (10.2%). The largest number of abnormalities involved multiple malformations (21.7%), followed by defects in the lymphatics or effusion (19.0%) or urogenital system (15.3%). The use of SNP-array test fully complemented chromosome karyotype analysis after late cordocentesis. It also improved the detection rate for fetal chromosomal abnormalities and was effective for preventing and controlling the occurrence of birth defects.
由于随着妊娠的进展，检测到的胎儿异常数量增加，我们评估了在 754 名孕晚期妇女中进行脐带穿刺术进行单核苷酸多态性（SNP）分析测试的安全性和有效性。所有胎儿均进行常规核型分析，并用 Affymetrix CytoScan HD 进行 SNP 芯片检测。除了通过常规核型分析检测到的 24 例染色体异常外，SNP 芯片检测还发现了 56 例（7.4%）具有正常核型但异常拷贝数变异（CNV）的病例。其中，24 例为致病性 CNV，32 例为临床意义不确定的 CNV。在 742 例有异常超声发现的病例中，有 76 例（10.2%）检测出细胞遗传学异常。异常数量最多的涉及多种畸形（21.7%），其次是淋巴管或积液缺陷（19.0%）或泌尿生殖系统缺陷（15.3%）。SNP 芯片检测完全补充了晚期脐带穿刺后的染色体核型分析。它还提高了胎儿染色体异常的检出率，有效预防和控制了出生缺陷的发生。
