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.
BMC Med Genomics. 2021 Jan 12;14(1):19. doi: 10.1186/s12920-021-00870-w.
Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers.
Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis.
Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups.
Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.
超声检查时可发现一些超声软指标。然而，胎儿超声软指标的病因仍不清楚。本研究旨在评估染色体异常和拷贝数变异（CNVs）在胎儿超声软指标中的遗传病因学和临床价值。
在 1131 例胎儿中，729 例有单个超声软指标，322 例有两个超声软指标，80 例有三个或更多超声软指标。所有胎儿均行常规核型分析，继以单核苷酸多态性（SNP）微阵列分析。
在 1131 例有超声软指标的胎儿中，有 46 例存在染色体异常。除了与核型分析结果一致的 46 例染色体异常胎儿外，SNP 微阵列还发现了 6.1%（69/1131）的异常 CNVs。有超声软指标、两个超声软指标、三个或更多超声软指标的胎儿中异常 CNVs 的发生率分别为 6.2%、6.2%和 5.0%，各组间异常 CNVs 的发生率无显著差异。
遗传异常影响产科结局。SNP 微阵列可充分补充胎儿超声软指标的常规核型分析，提高染色体异常的检出率，并影响妊娠结局。
