【摘要】：目的探討孕中晚期胎兒鼻骨發(fā)育異常(鼻骨缺失/短小)作為遺傳學(xué)指標(biāo)的意義與價(jià)值。方法對(duì)2010年2月-2015年2月在該院孕中晚期超聲篩查發(fā)現(xiàn)鼻骨發(fā)育異常且進(jìn)行中期羊膜腔穿刺或臍帶血穿刺的101例胎兒行染色體核型分析和/或單核苷酸多態(tài)性微陣列(SNP-array)分析。結(jié)果 101例鼻骨發(fā)育異常胎兒中有45例(44.55%)為鼻骨缺失,56例(55.45%)為鼻骨發(fā)育短小。介入性產(chǎn)前診斷檢出染色體異常胎兒19例(18.81%),包括21-三體綜合征14例,18-三體綜合征3例,22q11微缺失2例。45例鼻骨缺失胎兒中28例為單純鼻骨缺失,17例合并其他結(jié)構(gòu)異常,染色體異常檢出率為33.33%(15/45),15例染色體異常胎兒中4例為單純鼻骨缺失,另11例為合并其他超聲結(jié)構(gòu)異常;56例鼻骨短小胎兒中48例為單純鼻骨短小,8例合并其他結(jié)構(gòu)異常,染色體異常檢出率為7.14%(4/56),4例染色體異常胎兒中1例為單純鼻骨短小但孕婦為高齡孕婦,另3例合并其他超聲結(jié)構(gòu)異常;胎兒鼻骨發(fā)育異常同時(shí)合并其他超聲結(jié)構(gòu)異常的胎兒的染色體異常檢出率為76.00%(19/25),明顯高于不合并其他超聲結(jié)構(gòu)異常的胎兒染色體異常檢出率,檢出率6.58%(5/76)。結(jié)論胎兒鼻骨發(fā)育不良合并其他超聲結(jié)構(gòu)異常時(shí)染色體異常的檢出率增高,單純胎兒鼻骨短小不建議進(jìn)行介入性產(chǎn)前診斷。
[Abstract]:Objective to explore the significance and value of fetal nasal bone dysplasia (nasal bone loss / short size) as a genetic marker in middle and late pregnancy. Methods from February 2010 to February 2015, 101 fetuses with abnormal nasal bone development and amniocentesis or umbilical cord blood puncture were analyzed for chromosome karyotype analysis and / or single nucleotide polymorphism (SNP). Microarray (SNP-array) analysis. Results of 101 cases with abnormal development of nasal bone, 45 cases (44.55%) had nasal bone defect and 56 cases (55.45%) had short development of nasal bone. 19 cases (18.81%) were diagnosed by interventional prenatal diagnosis, including 14 cases of 21 trisomy syndrome, 3 cases of 18 trisomy syndrome, 2 cases of 22q11 microdeletion, and 28 cases of simple nasal bone loss in 45 cases of nasal bone loss fetus, including 14 cases of 21 trisomy syndrome, 3 cases of 18 trisomy syndrome and 2 cases of 22q11 microdeletion. The detection rate of chromosomal abnormalities was 33.33% (15 / 45). Of the 15 cases, 4 cases were simple nasal bone defects and 11 cases were complicated with other ultrasonic structural abnormalities. Of 56 cases of short fetuses with nasal bone, 48 cases were simple short nasal bones, 8 cases were complicated with other structural abnormalities, the detection rate of chromosomal abnormalities was 7.14% (4 / 56). Other 3 cases were complicated with other ultrasonic structural abnormalities. The detection rate of chromosomal abnormalities in fetuses with abnormal development of fetal nasal bone and other ultrasonic structural abnormalities was 76.00% (19 / 25), which was significantly higher than that in fetuses without other abnormal ultrasonic structures. The detection rate was 6.58% (5 / 76). Conclusion the detection rate of chromosomal abnormalities in fetal nasal bone dysplasia combined with other ultrasonic structural abnormalities is higher than that in other cases. It is not recommended to carry out interventional prenatal diagnosis of fetal nasal bone short size.
【作者單位】： 甘肅省婦幼保健院產(chǎn)前診斷中心;
【基金】：中國疾病預(yù)防控制中心婦幼合生元母嬰營養(yǎng)與健康研究項(xiàng)目(2014FYH012) 甘肅省出生缺陷防控重點(diǎn)實(shí)驗(yàn)室培育基地資助項(xiàng)目(1506RTSA158)
【分類號(hào)】：R714.53

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