本文關(guān)鍵詞： 唇腭裂 產(chǎn)前診斷 染色體 染色體基因芯片分析 回顧性研究　出處：《實(shí)用婦產(chǎn)科雜志》2017年09期 　論文類型：期刊論文

【摘要】：目的:探討胎兒唇腭裂與染色體異常的關(guān)系,為該疾病的臨床咨詢及預(yù)后評估提供依據(jù)。方法:回顧性分析我院2008年1月至2016年12月所有超聲診斷為唇裂/腭裂/唇腭裂的308例孕婦的產(chǎn)前診斷情況,比較不同類型唇腭裂的超聲表型特征及染色體異常的發(fā)生率。結(jié)果:(1)超聲診斷結(jié)果顯示,在308例唇腭裂胎兒中非綜合征型唇腭裂258例(83.77%),綜合征型唇腭裂50例(16.23%),其中單純唇裂40例(12.99%),唇裂合并腭裂266例(86.36%),單純腭裂2例(0.65%)。(2)同意進(jìn)行產(chǎn)前診斷137例(44.48%),染色體異常共22例(16.06%),其中23例綜合征型唇腭裂中發(fā)現(xiàn)染色體異常共12例(52.17%),分別為13-三體8例(66.67%),18-三體2例(16.67%),三倍體2例(16.67%);而在114例非綜合征型唇腭裂中發(fā)現(xiàn)染色體異常10例(8.77%),分別為18-三體1例,21-三體1例,標(biāo)記染色體1例,發(fā)現(xiàn)基因微缺失微重復(fù)等遺傳綜合征4例(B超檢查均無任何軟指標(biāo)及除唇腭裂外的其他結(jié)構(gòu)異常),臂間倒位等染色體多態(tài)性3例。染色體基因芯片分析(CMA)檢測的染色體異常檢出率為16.16%(16/99),染色體核型分析異常檢出率為15.79%(6/38)。(3)隨訪到204例患者,186例患者選擇引產(chǎn),18例患者出生后進(jìn)行手術(shù)干預(yù)治療。結(jié)論:唇腭裂胎兒染色體異常發(fā)生率較高,建議對所有類型唇腭裂均進(jìn)行產(chǎn)前診斷;CMA檢測可以發(fā)現(xiàn)除非整倍體外的拷貝數(shù)變異,建議對唇腭裂胎兒優(yōu)選基因芯片進(jìn)行產(chǎn)前診斷。
[Abstract]:Objective: to investigate the relationship between fetal cleft lip and palate and chromosomal abnormalities. To provide the basis for clinical consultation and prognosis evaluation of the disease. Methods:. The prenatal diagnosis of all pregnant women with cleft lip / cleft palate / cleft lip / palate diagnosed by ultrasonography from January 2008 to December 2016 was analyzed retrospectively. The characteristics of ultrasonic phenotype and the incidence of chromosomal abnormalities in different types of cleft lip and palate were compared. Among 308 cases of fetal cleft lip and palate with non-syndromic cleft lip and palate, 258 cases had cleft lip and palate without syndrome (83.77), 50 cases of syndromic cleft lip and palate (50 cases with cleft lip and palate 16.23 cases), and 40 cases of simple cleft lip and palate (40 cases). There were 266 cases of cleft lip with cleft palate and 86.36 cases of cleft palate, and 2 cases of simple cleft palate were 0.65 and 0.65% respectively.) 137 cases (44.48) were accepted for prenatal diagnosis. There were 22 cases of chromosomal abnormalities, of which 12 cases were found to have chromosomal abnormalities in 23 cases of syndromic cleft lip and palate, which were 13 trisomy 8 cases and 66.67%, respectively. 18- trisomy (n = 2) and triploid (n = 2) (n = 16.67); In 114 cases of non-syndromic cleft lip and palate, 10 cases with chromosomal abnormalities were found to have chromosomal abnormalities, including 1 case of 18-trisomy, 1 case of trisomy 21 and 1 case of marker chromosome. Four cases of gene microdeletion and microduplication were found (no soft markers and other structural abnormalities except cleft lip and palate) were detected by B-mode ultrasonography. The detection rate of chromosomal abnormalities detected by chromosome microarray analysis (CMA) was 16.16 / 99). The positive rate of chromosomal karyotype analysis was 15.79% ~ 6 / 38 ~ (3)) 204 patients were followed up and 186 patients were selected to induce labor. Conclusion: the incidence of chromosomal abnormalities in the fetus with cleft lip and palate is high. It is recommended that all types of cleft lip and palate should be diagnosed before birth. CMA detection can detect the prenatal diagnosis of cleft lip and palate fetal selective gene chip unless the copy number variation in vitro is doubled.
【作者單位】： 廣州醫(yī)科大學(xué)附屬第三醫(yī)院;
【基金】：教育部科技發(fā)展中心2013年度高等學(xué)校博士學(xué)科點(diǎn)專研科學(xué)基金(編號:20134423120004) 廣州市科技和信息化局科技計(jì)劃項(xiàng)目科技惠民專項(xiàng)(編號:2014YZ-00176) 廣州市衛(wèi)生局醫(yī)藥衛(wèi)生科技項(xiàng)目西醫(yī)類一般引導(dǎo)項(xiàng)目(編號:20131A011156)
【分類號】：R714.53
【正文快照】： 據(jù)統(tǒng)計(jì)我國每年唇腭裂患兒的出生率占先天性缺陷兒的9%~14%,是顱面部最常見的先天性異常,居圍生兒出生缺陷發(fā)生率的第4位[1]。該病會影響患者的發(fā)音、聽力、呼吸、吞咽功能及面容,給個(gè)人和家庭造成沉重的經(jīng)濟(jì)及精神負(fù)擔(dān)。唇腭裂的分型標(biāo)準(zhǔn)可根據(jù)其是否合并其他臟器畸形分為綜

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