發(fā)布時(shí)間：2018-12-12 17:53

【摘要】：目的應(yīng)用染色體微陣列分析技術(shù)(CMA)在全基因組水平分析側(cè)腦室增寬胎兒的遺傳學(xué)病因,探討胎兒側(cè)腦室增寬與染色體拷貝數(shù)變異(CNVs)的相關(guān)性及CMA檢測(cè)在側(cè)腦室增寬胎兒產(chǎn)前診斷中的應(yīng)用價(jià)值。方法選取2015年1月-2016年11月在第四軍醫(yī)大學(xué)西京醫(yī)院就診并接受介入性產(chǎn)前診斷的70例孕中/晚期超聲提示胎兒側(cè)腦室寬大于1.0cm且標(biāo)準(zhǔn)G顯帶染色體核型分析正�；騁顯帶染色體核型分析不能確定的染色體異常胎兒樣本,應(yīng)用Affymetrix Cy to ScanTM 750k芯片進(jìn)行CMA檢測(cè),根據(jù)相關(guān)生物信息學(xué)數(shù)據(jù)庫(kù)對(duì)CMA檢測(cè)結(jié)果進(jìn)行全面分析,并定期復(fù)查胎兒的發(fā)育情況,隨訪妊娠結(jié)局及胎兒出生后的生長(zhǎng)發(fā)育狀況。結(jié)果在70例側(cè)腦室增寬胎兒中,CMA檢測(cè)發(fā)現(xiàn)9例胎兒存在致病性CNVs,3例胎兒存在意義不明確、可能致病的CNVs,1例胎兒存在意義不明確、可能致病的雜合性缺失(LOH)。在70例側(cè)腦室增寬胎兒中,重度非孤立性側(cè)腦室增寬6例,其中致病性CNVs 2例(33.3%,2/6);重度孤立性側(cè)腦室增寬3例,未檢出致病性CNVs,意義不明確、可能致病CNVs 1例(33.3%,1/3);輕度非孤立性側(cè)腦室增寬31例,其中致病性CNVs 6例(19.4%,6/31),意義不明確、可能致病CNVs 2例(6.5%,2/31);輕度孤立性側(cè)腦室增寬30例,其中致病性CNVs 1例(3.3%,1/30),意義不明確、可能致病CNVs 1例(3.3%,1/30)。結(jié)論 CMA可更有效地檢測(cè)出傳統(tǒng)核型分析無(wú)法識(shí)別的微缺失、微重復(fù)等染色體異常,對(duì)側(cè)腦室增寬的胎兒進(jìn)行CMA檢測(cè)能夠提高異常檢出率,對(duì)臨床產(chǎn)前診斷及遺傳咨詢(xún)具有重要價(jià)值。
[Abstract]:Objective to analyze the genetic causes of lateral ventricular enlargement (VVH) fetus by chromosome microarray analysis (CMA) at the whole genome level. To investigate the correlation between fetal lateral ventricular widening and chromosome copy number variation (CNVs) and the value of CMA in prenatal diagnosis of fetal lateral ventricular enlargement. Methods from January 2015 to November 2016, 70 cases of fetal lateral ventricle larger than 1.0cm and standard G-banding chromosome karyotype were selected from Xijing Hospital of fourth military Medical University and received interventional prenatal diagnosis. Analysis of normal or G-banded chromosomal karyotype analysis of fetal samples with chromosomal abnormalities, Affymetrix Cy to ScanTM 750k chip was used to detect CMA, and the results of CMA were analyzed according to the relevant bioinformatics database. The development of fetus, pregnancy outcome and fetal growth and development after birth were reviewed periodically. Results in 70 fetuses with lateral ventricular enlargement, CMA detection showed that 9 fetuses had pathogenicity CNVs,3 cases had undefined fetal significance, CNVs,1 fetus had unclear significance, and might cause loss of heterozygosity (LOH). Of the 70 cases of lateral ventricular enlargement, 6 cases were severe non-isolated lateral ventricular enlargement, 2 cases were pathogenicity CNVs (33.3% / 6). In 3 cases of severe isolated ventricular enlargement, the significance of pathogenicity CNVs, was not clear, and 1 case might cause CNVs (33.3 / 1 / 3). There were 31 cases of mild non-solitary lateral ventricular enlargement, of which 6 cases were pathogenicity CNVs (19.4% / 31), the meaning was not clear, and 2 cases might cause CNVs (6.5% / 31). There were 30 cases of mild isolated ventricular enlargement, of which 1 case was pathogenicity CNVs (3.3 / 30%), the meaning was not clear, and 1 case might cause CNVs (3.33 / 30%). Conclusion CMA can more effectively detect chromosomal abnormalities such as microdeletion and microduplication which can not be identified by traditional karyotype analysis. The detection rate of abnormal chromosomes can be increased by CMA detection in fetuses with contralateral ventricular enlargement. It has important value for clinical prenatal diagnosis and genetic counseling.
【作者單位】： 第四軍醫(yī)大學(xué)西京醫(yī)院婦產(chǎn)科;
【分類(lèi)號(hào)】：R714.53

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