Luo Xiaojin, Wu Liping, Song Jinshuang, Xu Jinmao, Huang Ruchun, Niu Hongyan, Zhou Fei, Pei Yuanyuan, Liu Weiqiang, Wei Fengxiang
The Genetics Laboratory, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China.
J Clin Lab Anal. 2025 Jul;39(13):e70051. doi: 10.1002/jcla.70051. Epub 2025 Jun 19.
To analyze the ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy outcomes, and follow-up information of fetuses with 16p13.11 deletion or duplication.
This retrospective study collected data from 14 fetuses diagnosed with 16p13.11 deletion and 12 fetuses with 16p13.11 duplication. The study involved a review and analysis of maternal demographics, ultrasound findings, SNP-array results, pregnancy outcomes, and follow-up information.
The copy number variations (CNVs) observed ranged in size from 0.92 to 2.85 Mb for 16p13.11 deletions and from 0.89 to 2.84 Mb for duplications. These CNVs included seven OMIM genes: NDE1, MYH11, ABCC1, XYLT1, MARF1, CEP20, and ABCC6. Among the 14 fetuses with 16p13.11 deletions, seven (50.0%, 7/14) revealed abnormalities in ultrasound findings. Cardiovascular anomalies were present in five cases (35.7%, 5/14); two cases (14.3%, 2/14) showed lateral ventricular widening. Cases 2 and 14 were particularly noteworthy, as both presented complex malformations affecting multiple organs. Among the 12 fetuses with duplications, five cases (41.7%, 5/12) exhibited ultrasound abnormalities. Of these, three cases (25.0%, 3/12) presented with cardiovascular abnormalities; two cases (16.7%, 2/12) displayed widened lateral ventricles. Case 25 was particularly distinct, featuring complex multiorgan malformations that included widened lateral ventricles, tricuspid regurgitation, and a right ear malformation. Of the eight fetuses with 16p13.11 deletions whose pregnancies were continued, three exhibited neurodevelopmental abnormalities. Ten fetuses with 16p13.11 duplications that were followed up, two cases showed neurodevelopmental abnormalities.
Our study expanded the clinical phenotype spectrum of fetuses with 16p13.11 deletion and duplication and conducted a preliminary evaluation of prenatal ultrasound findings in conjunction with postnatal clinical phenotypes. The primary manifestations observed in fetuses with 16p13.11 deletion and duplication are likely to be cardiovascular malformations and widened lateral ventricles.
分析16p13.11缺失或重复胎儿的超声检查结果、单核苷酸多态性微阵列（SNP阵列）结果、妊娠结局及随访信息。
这项回顾性研究收集了14例诊断为16p13.11缺失胎儿和12例16p13.11重复胎儿的数据。该研究包括对孕妇人口统计学资料、超声检查结果、SNP阵列结果、妊娠结局及随访信息的回顾与分析。
观察到的16p13.11缺失的拷贝数变异（CNV）大小范围为0.92至2.85 Mb，重复的CNV大小范围为0.89至2.84 Mb。这些CNV包括7个OMIM基因：NDE1、MYH11、ABCC1、XYLT1、MARF1、CEP20和ABCC6。在14例16p13.11缺失的胎儿中，7例（50.0%，7/14）超声检查结果异常。5例（35.7%，5/14）存在心血管异常；2例（14.3%，2/14）表现为侧脑室增宽。病例2和病例14尤其值得注意，因为两者均表现出影响多个器官的复杂畸形。在12例重复的胎儿中，5例（41.7%，5/12）超声检查异常。其中，3例（25.0%，3/12）存在心血管异常；2例（16.7%，2/12）侧脑室增宽。病例25尤为特殊，具有包括侧脑室增宽、三尖瓣反流和右耳畸形在内的复杂多器官畸形。在8例继续妊娠的16p13.11缺失胎儿中，3例出现神经发育异常。在10例接受随访的16p13.11重复胎儿中，2例出现神经发育异常。
我们的研究扩展了16p13.11缺失和重复胎儿的临床表型谱，并结合产后临床表型对产前超声检查结果进行了初步评估。16p13.11缺失和重复胎儿观察到的主要表现可能是心血管畸形和侧脑室增宽。
