国际生殖健康/计划生育杂志

国际生殖健康/计划生育杂志 ›› 2025, Vol. 44 ›› Issue (4): 278-281.doi: 10.12280/gjszjk.20250080

• 论著 • 上一篇    下一篇

21例2q13微缺失综合征胎儿的产前诊断及遗传学分析

颜梅珍, 王俊育, 庄倩梅, 张娜()   

  1. 362000 泉州市妇幼保健院（泉州市儿童医院）产前诊断中心
  • 收稿日期:2025-02-21 出版日期:2025-07-15 发布日期:2025-07-28
  • 通讯作者: 张娜，E-mail：zn0402003@163.com
  • 基金资助:
    泉州市科技计划项目(2024NY070)

Prenatal Diagnosis and Genetic Analysis of 21 Fetuses with 2q13 Microdeletion Syndrome

YAN Mei-zhen, WANG Jun-yu, ZHUANG Qian-mei, ZHANG Na()   

  1. Prenatal Diagnosis Center, Quanzhou Women′s and Children′s Hospital, Quanzhou 362000, Fujian Province, China
  • Received:2025-02-21 Published:2025-07-15 Online:2025-07-28
  • Contact: ZHANG Na, E-mail: zn0402003@163.com

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摘要：

目的：分析21例2q13微缺失综合征胎儿的产前诊断指征及随访结果。方法：回顾性分析2020年4月—2024年2月因不同高危因素在泉州市妇幼保健院（泉州市儿童医院）产前诊断中心行羊膜腔穿刺术进行染色体核型分析及单核苷酸多态性阵列（single nucleotide polymorphism array，SNP-array）检测的孕妇 4 832例。采用描述性统计分析检出的2q13微缺失综合征胎儿的核型结果、介入性产前指征、超声特点及出生后的随访情况。结果：本研究共检出21例胎儿2q13微缺失，14例胎儿超声检查发现异常，1例夫妇双方为β地中海贫血携带者，1例无创产前筛查提示胎儿性染色体异常，1例仅血清学筛查高风险，3例高龄孕妇，1例孕妇本人及第一胎染色体异常。胎儿染色体核型分析检出1例16号染色体倒位，20例核型未见异常。SNP-array检出2q13微缺失片段大小范围为103.5~1 771.0 kb，经验证4例遗传自母亲，3例遗传自父亲，2例验证为新发突变，12例拒绝进一步的验证。4例孕妇综合各项检查结果后知情选择终止妊娠，外观未见明显异常。1例失访，11例胎儿出生后随访均健康，5例胎儿出生时发现不同程度的异常。结论：2q13微缺失综合征的表型具有多样性，且多遗传自表型正常的父母，家系验证和生后随访有助于临床遗传咨询。

关键词: 产前诊断, 羊膜腔穿刺术, 核型分析, 寡核苷酸序列分析, 2q13微缺失综合征

Abstract:

Objective: To analyze the indications for prenatal diagnosis and postnatal follow-up outcomes in 21 fetuses diagnosed with 2q13 microdeletion syndrome. Methods: A retrospective analysis was conducted on 4 832 pregnant women who underwent amniocentesis for karyotyping and single nucleotide polymorphism array (SNP-array) testing at Prenatal Diagnosis Center of Quanzhou Women's and Children's Hospital between April 2020 and February 2024 due to various high-risk factors. Descriptive statistical methods were employed to evaluate the karyotype results, indications for invasive prenatal diagnosis, ultrasound findings, and postnatal follow-up outcomes of the 21 fetuses with 2q13 microdeletion syndrome. Results: Among the 21 fetuses identified with 2q13 microdeletion, 14 exhibited abnormal ultrasound findings; one couple were carriers of β-thalassemia; one case was flagged by noninvasive prenatal testing for sex chromosome abnormalities; one case was identified through high-risk serum screening; three cases involved advanced maternal age; and one case involved chromosomal abnormalities in both the mother and her first child. Karyotype analysis revealed that one case showed an inversion of chromosome 16, and that no abnormalities were detected in the remaining 20 cases. SNP-array testing revealed 2q13 microdeletion fragments ranging in size from 103.5 to 1 771.0 kb. Genetic testing revealed that four cases were maternally inherited, three were paternally inherited, two were de novo mutations, and twelve couples declined further verification. Four pregnancies were electively terminated after the informed decision-making based on comprehensive assessments, with no apparent external abnormalities observed in the fetuses. One case was lost to follow-up, 11 newborns were healthy at birth, and five exhibited varying degrees of congenital anomalies. Conclusions: The phenotypic manifestations of 2q13 microdeletion syndrome are highly variable, with most cases inherited from phenotypically normal parents. Genetic verification and long-term postnatal follow-up are essential for accurate clinical genetic counseling.

Key words: Prenatal diagnosis, Amniocentesis, Karyotyping, Oligonucleotide array sequence analysis, 2q13 microdeletion syndrome