Liu Qian, Wei Ran, Lu Jian, Ding Hongke, Yi Hui, Guo Li, Wu Jing
Department of Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou City, Guangdong Province, People's Republic of China.
Int J Gen Med. 2022 Jun 23;15:5775-5784. doi: 10.2147/IJGM.S358864. eCollection 2022.
To analyse the risk of clinical chromosomal abnormalities in foetuses with umbilical cord cysts.
Data from all genetic assays that were performed as part of invasive prenatal diagnoses of umbilical cord cysts between October 2014 and June 2021 were retrospectively collected from Guangdong Women and Children Hospital. We compared the differences in genetic assay findings in isolated and nonisolated umbilical cord cyst cohorts.
A total of 49 singleton pregnancies and 2 foetuses that were one of the cotwins in monochorionic twin pregnancies were enrolled in the cohort; 20 isolated and 31 nonisolated umbilical cord cysts were identified in the cohort. One foetus (5%, 1/20) in the isolated umbilical cord cyst group showed chromosomal abnormalities and 17p12 microduplication. Twelve cases (38.7%, 12/31) of chromosomal abnormalities, including seven cases of trisomy 18, two cases of trisomy 13 and three cases of microdeletion, were identified in the nonisolated umbilical cord cyst group. The incidences of chromosomal abnormalities between the two groups were significantly different (1/20, 5% vs 13/31, 38.7%, =0.003). There was no relative pathological medical exome sequencing finding in the three foetuses suffering from nonisolated umbilical cord cysts whose parents chose to undergo chromosomal microarray analysis (CMA) and medical exome sequencing.
This retrospective cohort study evaluated the value of CMA in foetuses with umbilical cord cysts and suggested that copy number variants (CNVs) may be the basic genetic aetiological factors that should be considered for diagnostic evaluation. We recommended CMA as a basic genetic evaluation in cases of umbilical cord cysts, especially in nonisolated cases.
分析伴有脐带囊肿的胎儿发生临床染色体异常的风险。
回顾性收集2014年10月至2021年6月在广东省妇幼保健院进行的所有作为脐带囊肿侵入性产前诊断一部分的基因检测数据。我们比较了孤立性和非孤立性脐带囊肿队列中基因检测结果的差异。
该队列共纳入49例单胎妊娠和2例单绒毛膜双胎妊娠中的一个胎儿；队列中识别出20例孤立性脐带囊肿和31例非孤立性脐带囊肿。孤立性脐带囊肿组中有1例胎儿（5%，1/20）显示染色体异常及17p12微重复。非孤立性脐带囊肿组中识别出12例（38.7%，12/31）染色体异常，包括7例18三体、2例13三体和3例微缺失。两组之间染色体异常的发生率有显著差异（1/20，5% 对比13/31，38.7%，P = 0.003）。在3例患有非孤立性脐带囊肿且其父母选择进行染色体微阵列分析（CMA）和医学外显子组测序的胎儿中，未发现相关的病理性医学外显子组测序结果。
这项回顾性队列研究评估了CMA在伴有脐带囊肿胎儿中的价值，并表明拷贝数变异（CNV）可能是诊断评估中应考虑的基本遗传病因因素。我们建议将CMA作为脐带囊肿病例尤其是非孤立性病例的基本遗传评估方法。
