具有临床意义的基因结果在胎儿与隔离的马脏
Qiu-Xia Yu1, Yu-Tong Ni1, Yong-Ling Zhang1
1Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Prenatal diagnosis
|February 16, 2026
概括
对分离的胎儿马 (HSK) 的基因测试在3.2%的病例中发现了复制数变异 (CNV),在4.4%的病例中发现了单一性疾病. 这些发现支持在怀孕中使用基因调查,以隔离的胎儿HSK.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 泌尿器科 泌尿器科 泌尿器科 泌尿器科
背景情况:
- 孤立的马 (HSK) 是一种具有潜在遗传基础的先天性异常.
- 隔离HSK的产前诊断需要进一步调查潜在的遗传原因.
研究的目的:
- 为了评估被诊断患有隔离的马 (HSK) 的胎儿遗传检测的诊断产量.
主要方法:
- 追溯分析95例通过第二季度超声波诊断的孤立胎儿HSK病例.
- 使用染色体微阵列分析 (CMA) 来检测副本数变异 (CNV) 的侵入性产前诊断.
- 对于具有负NV结果的病例,提供三外体序列 (ES) 测序.
主要成果:
- 染色体微阵列分析 (CMA) 在3.2%的病例中检测到致病性CNVs (1同染色体X,1重复16p13.11,1删除7q11.22).
- 在45个病例中,三外体序列测定 (ES) 确定了PSMD12和KMT2D的致病变体,为单一性疾病提供了4.4%的诊断率.
- 综合基因测试为潜在的遗传异常提供了显著的诊断率.
结论:
- 基因检查,包括CMA和ES,在被孤立的HSK的胎儿中提供了有价值的诊断产量.
- 这些发现支持推在怀孕中进行基因检测,因为分离的胎儿HSK而复杂.
- 鉴定遗传原因可以为遗传咨询和管理策略提供信息.
相关概念视频
Teratogenicity
4.3K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.3K
Pleiotropy
43.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.4K
Genetic Lingo
115.4K
Overview
115.4K


