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《福建醫(yī)藥雜志》[ISSN:1002-2600/CN:35-1071/R]

卷:

44

期數(shù):

2022年04期

頁碼:

5-8

欄目:

臨床研究

出版日期:

2022-08-15

文章信息/Info

Title:

Application value of chromosome microarray analysis in prenatal genetic diagnosis of abnormal fetus detected by ultrasound

文章編號:

1002-2600(2022)04-0005-04

作者:

黃潔; 王翠蘭

福建醫(yī)科大學(xué)附屬南平第一醫(yī)院婦產(chǎn)科(南平 353000)

Author(s):

HUANG Jie;  WANG Cuilan

Department of Obstetrics and Gynecology, Nanping First Hospital Affiliated to Fujian Medical University, Nanping, Fujian 350000, China

關(guān)鍵詞:

異常胎兒; 染色體微陣列分析; 超聲; 產(chǎn)前診斷; 遺傳學(xué)技術(shù)

Keywords:

abnormal fetus;  chromosome microarray analysis;  ultrasound;  prenatal diagnosis;  genetic technology

分類號:

R714.55

文獻(xiàn)標(biāo)志碼:

B

摘要:

目的 探究染色體微陣列分析(CMA)技術(shù)在超聲異常胎兒產(chǎn)前遺傳學(xué)診斷中的應(yīng)用價值。方法 選取2017年3月至2019年12月就診于我院的145例超聲檢測發(fā)現(xiàn)胎兒異常的孕婦,均進(jìn)行常規(guī)染色體核型分析和CMA檢測,分析單核苷酸多態(tài)性微陣列(SNP array)檢測結(jié)果,并對致病CMA結(jié)果進(jìn)行分析。結(jié)果 145例超聲異常的胎兒中,檢出非整倍體8例,檢出率5.52%; ≥10 Mb 染色體重復(fù)/缺失5例,檢出率3.45%; <10Mb 染色體微重復(fù)/缺失11例,檢出率7.59%。121例核型正常的胎兒中,致病性基因拷貝數(shù)變異(CNV)、臨床意義不明確CNV(VOUS)、良性CNV分別占7.44%、88.43%、4.13%。9例致病CNV經(jīng)CMA檢測出心臟畸形伴變異型Dandy-Walker 畸形1例、心臟畸形伴DiGeorge綜合征2例、心臟畸形1例、肺發(fā)育畸形1例、雙側(cè)側(cè)腦室擴(kuò)張伴小腦橫徑小于正常預(yù)測值M-2.8 SD 1例、雙側(cè)側(cè)腦室增寬伴小腦測值小于正常預(yù)測值M-3 SD 1例、胎兒生長受限伴鼻骨缺失1例,胎兒生長受限1例。結(jié)論 CMA技術(shù)可有效發(fā)現(xiàn)超聲異常胎兒的染色體微重復(fù)/微缺失,對產(chǎn)前遺傳學(xué)診斷具有重要價值。

Abstract:

Objective To explore the application value of chromosome microarray analysis(CMA)in prenatal genetic diagnosis of abnormal fetus detected by ultrasound. Methods A total of 145 cases of pregnant women with fetal abnormalities detected by ultrasound in our hospital from March 2017 to December 2019 were selected and all underwent routine chromosome karyotype analysis and CMA detection.The results of single nucleotide polymorphism microarray(SNP array)and the results of pathogenic CMA were analyzed. Results Among the 145 abnormal fetuses detected by ultrasound, 8 cases of aneuploidy were detected, with a detection rate of 5.52%; 5 cases of chromosome duplication/deletion ≥10 Mb were detected, with a detection rate of 3.45%. There were 11 cases of <10Mb chromosome microduplication/deletion, and the detection rate was 7.59%. Among the 121 fetuses with normal karyotype, pathogenic gene copy number variation(CNV), clinically ambiguous CNV(vous)and benign CNV accounted for 7.44%, 88.43% and 4.13% respectively. Nine cases of pathogenic CNV were detected by CMA, including one case of cardiac malformation with variant Dandy Walker malformation, two cases of cardiac malformation with DiGeorge syndrome, one case of cardiac malformation, one case of pulmonary developmental malformation, one case of bilateral lateral ventricular dilatation with cerebellar transverse diameter less than the normal prediction value M-2.8 SD, one case of bilateral lateral ventricular widening with cerebellar measurement value less than the normal prediction value M-3 SD, and one case of fetal growth restriction with nasal bone loss, and one case of fetal growth restriction. Conclusion The CMA technology can effectively detect chromosome microduplication/microdeletion of abnormal fetus detected by ultrasound,and it is of great value for prenatal genetic diagnosis.

備注/Memo

備注/Memo:

基金項(xiàng)目:福建省自然科學(xué)基金計劃項(xiàng)目(2019 J01051938)

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更新日期/Last Update: 2022-08-15