Zhuang Jianlong, Huang Nan, Chen Yu'e, Wu Jialing, Ye Xiaofang, Chen Chunnuan
Prenatal Diagnosis Center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
The teaching and research office of clinical laboratory medicine, Quanzhou Medical College, Quanzhou, 362000, China.
BMC Pregnancy Childbirth. 2025 Jul 19;25(1):776. doi: 10.1186/s12884-025-07886-5.
The inherited causes behind fetuses with a single umbilical artery (SUA) are still poorly understood, largely because published studies are scarce. In the present research, efforts were made to uncover the genetic factors at play and to assess how SUA influences pregnancy outcome.
A retrospective review was performed on 5,014 pregnant individuals who underwent prenatal diagnostic testing between September 2017 and April 2023. Of these, 123 fetuses were found to have SUA. Amniocentesis was carried out in all affected cases, with samples analyzed via conventional karyotyping and chromosomal microarray analysis (CMA) to detect any chromosomal abnormalities.
In the present study, four cases of chromosome aneuploid and two cases of chromosomal structural abnormalities were identified through karyotype analysis, with the chromosomal aberration detection rate being 4.88% (6/123). CMA confirmed every abnormality detected by conventional karyotyping and additionally identified 11 pathogenic copy number variants that had been missed. These novel findings included clinically significant conditions such as Wolf-Hirschhorn syndrome, Xq28 duplication syndrome, 16p13.3 duplication syndrome, 16p11.2 deletion syndrome, and 22q11.21 deletion syndrome. Overall, CMA provided an incremental diagnostic yield of 8.94% (11/123) beyond what karyotyping alone achieved (P = 0.001).
CMA markedly improved the identification of clinically relevant genetic alterations in fetuses presenting with a single umbilical artery, especially when the anomaly occurred in isolation. These findings highlight the value of CMA for uncovering the genetic contributors to SUA and advance the characterization of genotype-phenotype relationships in these cases.
单脐动脉（SUA）胎儿的遗传病因仍知之甚少，主要原因是相关已发表研究较少。在本研究中，我们致力于揭示其中起作用的遗传因素，并评估SUA如何影响妊娠结局。
对2017年9月至2023年4月期间接受产前诊断检测的5014名孕妇进行回顾性研究。其中，发现123例胎儿患有SUA。对所有受影响的病例进行了羊水穿刺，通过常规核型分析和染色体微阵列分析（CMA）对样本进行分析，以检测任何染色体异常。
在本研究中，通过核型分析鉴定出4例染色体非整倍体和2例染色体结构异常，染色体畸变检出率为4.88%（6/123）。CMA证实了常规核型分析检测到的每一种异常，并额外鉴定出11个被遗漏的致病性拷贝数变异。这些新发现包括具有临床意义的疾病，如沃尔夫-赫希霍恩综合征、Xq28重复综合征、16p13.3重复综合征、16p11.2缺失综合征和22q11.21缺失综合征。总体而言，CMA的诊断检出率比单独使用核型分析提高了8.94%（11/123）（P = 0.001）。
CMA显著提高了对单脐动脉胎儿临床相关基因改变的识别能力，尤其是当该异常单独出现时。这些发现凸显了CMA在揭示SUA的遗传因素方面的价值，并推进了这些病例中基因型-表型关系的特征描述。
