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低级别的马赛克21型三综合症在羊发育和怀孕中的带发育与有利的胎儿结局和21型三综合症细胞系的围产阶段性渐进性减少有关

Chih-Ping Chen¹, Fang-Tzu Wu², Yen-Ting Pan²

¹Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan.

Taiwanese journal of obstetrics & gynecology

|October 31, 2024

概括

低水平的马赛克怀孕期间检测到的唐氏综合征 (三形 21) 可以有有利的胎儿结果. 三症21细胞系在出生后逐渐减少,导致正常发育.

科学领域:

遗传学是一个遗传学.
产前诊断在产前诊断
胎儿医学胎儿医学

背景情况:

马赛克三位症21 (Mosaic trisomy 21) 是一种疾病,其中一些细胞具有21号染色体的额外副本,在怀孕期间提出了诊断挑战.
晚年母亲和体外受精增加了染色体异常的风险.

研究的目的:

报告一个通过羊膜切割和骨髓切割检测到的低水平马赛克三形21病例.
为了研究21型三症细胞系的胎儿结局和产后进展.

主要方法:

在羊水中进行了型化和阵列比较基因组杂交 (aCGH).
进行了带检测,以评估胎儿的型.
量化光聚合酶连锁反应 (QF-PCR) 和光在位杂交 (FISH) 用于产后遗传分析.

主要成果:

乳液化检查显示15%的马赛克三症,21,而aCGH显示24.5%的马赛克.
带状带检查显示显著下降至6%的马赛克三形 21.
这名婴儿出生时表型正常,产后外周血液显示2.5%的马赛克三发症21.

结论:

在产前检测到的低级别马赛克三症21可能与有利的胎儿结果有关.
从产前诊断到产后随访,人们观察到21型三症细胞系的逐渐减少.

关键词:

氨基切片检查 (Amniocentesis) 是一种可以检查乳液的方法.带状带缩术 (cordocentesis) 是一种治疗方法.有利的结果是有利的结果.马赛克三症 21 21 产前诊断在产前诊断.

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