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致病拷贝数的变化与胎儿短股骨的长度有关,在第三级推中心研究中发现

Meiying Cai¹, Yanting Que², Meihuan Chen¹

¹Medical 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.

Journal of cellular and molecular medicine

|July 4, 2023

概括

缩短的胎儿大腿骨长度 (FL) 与副本数变异 (CNVs) 有关. 病原性CNV,包括7q11.23微删除,在受影响的胎儿中被确定,影响怀孕结果.

科学领域:

遗传学遗传学是一种遗传学.
产前诊断在产前诊断
医学科学医学科学医学科学

背景情况:

缩短胎儿大腿骨长度 (FL) 是常见的异常超声检查结果,引起母亲的焦虑.
目前对缩短FL的临床治疗方法有限,需要进一步调查其原因和结果.

研究的目的:

研究患有缩短FL的胎儿的临床特征,遗传原因和妊娠结果.
为被诊断为缩短FL的胎儿提供围产期管理策略的参考.

主要方法:

染色体微阵列分析用于检测缩短FL的胎儿的副本数变异 (CNVs).
为研究队列收集和分析了临床数据和产科结果.

主要成果:

在218个缩短FL的胎儿中,33个显示出异常的CNV,其中19个被确定为致病性.
致病性CNV包括形状,删除/重复和单双双体;在三个案例中发现了7q11.23微删除.
在77例病例中观察到不良妊娠结果,包括妊娠终止,产后智力障碍和婴儿死亡率.

结论:

致病性CNV与胎儿大腿骨长度缩短密切相关.
7q11.23微切除显示出与缩短FL的发展有着强烈的联系.
这些发现为出现缩短FL的胎儿的围产期管理提供了指导.

关键词:

7q11.23 微删除微删除染色体微阵列分析分析副本号码的变化副本号的变化胎儿的短股骨.遗传异常是一种遗传异常.超声波学超声波学超声波学

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相关概念视频

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...