產前晶片篩檢陽性個案之胎兒留存探討

Discussion the fetal retention of positive case by prenatal array screening

劉超凡(Chao-Fan Liu)

指導教授 ： 李妮鍾

國立臺灣大學/醫學院/分子醫學研究所/碩士(2021年)

https://doi.org/10.6342/NTU202103952

摘要

造成胎兒異常的因素很多，染色體不平衡分配、拷貝數變異與單基因疾病約佔整體異常的45~55%，因此產前檢測被認為是避免生產先天異常胎兒的重要方式之一。本研究蒐集2015-2020年於國立臺灣大學附設醫院進行產前單核苷酸多型性晶片篩檢的陽性個案共95例與留存結果，並比對遺傳來源與留存率的影響。結果顯示在單一染色體多倍體異常的陽性個案留存率為17.4%，留存者皆為性染色體異常的胎兒；至於在微片段缺失留存率為63.64%，異常源自遺傳及自發性突變的留存率各為89.47%與36.36%；而微片段擴增留存率為82.35%，異常源自遺傳及自發性突變的留存率則各為90.91%與60.00%，本研究證實相比於自發性突變，父母更傾向留存異常遺傳自雙親的胎兒。而蒐集到的95例陽性個案中以22號染色體q11.21位點變異最為常見，含7例微片段缺失與4例微片段擴增，本文數據也呈現缺失與擴增片段大小對於活產胎兒的週數與出生體重尚無相關。

關鍵字

單核苷酸多型性晶片 ； 留存率 ； 微片段缺失 ； 微片段擴增

並列摘要

Chromosome imbalance, copy number variants(CNV) and single-gene disorder were accounted for 45~55% of fetal abnormalities. To avoid delivering newborn with congenital abnormalities, prenatal diagnosis is considered an importance choice. In this study, we collected 95 positive case of prenatal SNP array test in National Taiwan University Hospital during 2015-2020 and focus on the effect of fetal retention between parental inheritance and de novo mutation. Our result revealed that retention rate was 17.4% in Trisomy group and all live fetus were sex chromosome abnormality. Retention rate in microdeletion group was 63.64%, and 89.4%, 36.36 % in parental inheritance and de novo mutation respectively. Retention rate in microduplication group was 82.35%, and 90.91%, 60.00 % in parental inheritance and de novo mutation respectively. These data manifest that parent tend to reserve fetus whose abnormalities were inherited. Moreover, we found that cytoband 22q11.21 was the most common abnormality, and there was no correlation between birth weight, gestational age and CNV size in these 95 positive case

並列關鍵字

CNV ； Single-nucleotide polymorphism array ； retention rate ； microdeletion ； microduplication

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