Cai Meiying, Lin Na, Chen Xuemei, Huang Hailong, Guo Nan, Lin Jiansong, Xu Liangpu
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Department of Pathology, Fujian Maternal and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Mol Genet Genomic Med. 2025 May;13(5):e70104. doi: 10.1002/mgg3.70104.
The intrauterine ultrasound phenotype, genotype, pregnancy outcome, and neonatal prognosis of fetuses with 1p36 deletion syndrome were retrospectively analyzed, as previous reports are limited.
Pregnant women (25,000) who underwent interventional prenatal diagnosis between December 2016 and March 2024 were selected. Fetal villus tissue, amniotic fluid, or umbilical cord blood were extracted for single nucleotide polymorphism array (SNP-array) detection under ultrasound guidance.
Thirteen fetuses had 1p36 deletions involving fragments that were 0.46-22.5 Mb. Six and seven fetuses had large and small copy number variation (CNV) fragment deletions in the 1p36 region, respectively. Two fetuses had normal ultrasound phenotypes, three underwent early spontaneous abortion, one had isolated ventricular septal defect, one had isolated mild ventriculomegaly, two had mild ventriculomegaly associated with increased renal echogenicity, one had mild ventriculomegaly associated with ventricular septal defect, one had severe ventriculomegaly associated with ventricular septal defect and fetal growth restriction, one had tricuspid valve dysplasia, and one had nasal bone dysplasia. Three 1p36 deletions were de novo, and one was paternally inherited. There were three cases of early spontaneous abortion, seven terminations, and three routine postnatal follow-ups.
High-resolution SNP-arrays are suitable for the prenatal diagnosis of 1p36 deletion syndrome.
由于既往报道有限，对1p36缺失综合征胎儿的宫内超声表型、基因型、妊娠结局及新生儿预后进行回顾性分析。
选取2016年12月至2024年3月期间接受介入性产前诊断的孕妇25000例。在超声引导下提取胎儿绒毛组织、羊水或脐带血进行单核苷酸多态性阵列（SNP-array）检测。
13例胎儿存在1p36缺失，缺失片段大小为0.46 - 22.5 Mb。其中6例和7例胎儿分别在1p36区域存在大片段和小片段拷贝数变异（CNV）缺失。2例胎儿超声表型正常，3例早期自然流产，1例单纯室间隔缺损，1例单纯轻度脑室扩张，2例轻度脑室扩张合并肾回声增强，1例轻度脑室扩张合并室间隔缺损，1例重度脑室扩张合并室间隔缺损及胎儿生长受限，1例三尖瓣发育不良，1例鼻骨发育不良。3例1p36缺失为新发突变，1例为父系遗传。3例早期自然流产，7例终止妊娠，3例进行常规产后随访。
高分辨率SNP阵列适用于1p36缺失综合征的产前诊断。
