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目的探讨孕中晚期胎儿鼻骨发育异常(鼻骨缺失/短小)作为遗传学指标的意义与价值。方法对2010年2月-2015年2月在该院孕中晚期超声筛查发现鼻骨发育异常且进行中期羊膜腔穿刺或脐带血穿刺的101例胎儿行染色体核型分析和/或单核苷酸多态性微阵列(SNP-array)分析。结果 101例鼻骨发育异常胎儿中有45例(44.55%)为鼻骨缺失,56例(55.45%)为鼻骨发育短小。介入性产前诊断检出染色体异常胎儿19例(18.81%),包括21-三体综合征14例,18-三体综合征3例,22q11微缺失2例。45例鼻骨缺失胎儿中28例为单纯鼻骨缺失,17例合并其他结构异常,染色体异常检出率为33.33%(15/45),15例染色体异常胎儿中4例为单纯鼻骨缺失,另11例为合并其他超声结构异常;56例鼻骨短小胎儿中48例为单纯鼻骨短小,8例合并其他结构异常,染色体异常检出率为7.14%(4/56),4例染色体异常胎儿中1例为单纯鼻骨短小但孕妇为高龄孕妇,另3例合并其他超声结构异常;胎儿鼻骨发育异常同时合并其他超声结构异常的胎儿的染色体异常检出率为76.00%(19/25),明显高于不合并其他超声结构异常的胎儿染色体异常检出率,检出率6.58%(5/76)。结论胎儿鼻骨发育不良合并其他超声结构异常时染色体异常的检出率增高,单纯胎儿鼻骨短小不建议进行介入性产前诊断。
Objective To explore the significance and value of fetal nasal bone abnormalities (nasal bone loss / shortening) as genetic markers in the second trimester of pregnancy. Methods From February 2010 to February 2015 in the hospital during the second trimester of pregnancy ultrasound screening of nasal bone abnormalities found in the mid-amniocentesis or cord blood puncture of 101 cases of fetal chromosome karyotype analysis and / or single nucleotide Polymorphic microarray (SNP-array) analysis. Results 45 cases (44.55%) of 101 cases of abnormal nasal development were nasal bone defects, and 56 cases (55.45%) had short nasal bone development. Interventional prenatal diagnosis of chromosomal abnormalities detected in 19 fetuses (18.81%), including 21 trisomy syndrome in 14 cases, 3 cases of 18 trisomy syndrome, 22q11 microdeletion in 2 cases. Forty-five cases of nasal absent fetus were deleted nasal bone only, 17 cases were associated with other structural abnormalities. The detection rate of chromosomal abnormalities was 33.33% (15/45). Four of 15 cases with chromosomal abnormalities were nasal bone missing and the other 11 cases 48 cases of short nasal short bones were short of nasal bone, 8 cases were complicated with other structural abnormalities, the detection rate of chromosomal abnormalities was 7.14% (4/56), 1 case of 4 cases of chromosomal abnormalities The simple nasal bones and pregnant women were pregnant women, and the other three cases were associated with other ultrasonic structural abnormalities. The detection rate of chromosomal abnormalities in fetal nasal bone abnormalities combined with other sonographic abnormalities was 76.00% (19/25), significantly higher than that of non-merged Other abnormal ultrasound fetal chromosomal abnormalities detection rate, the detection rate was 6.58% (5/76). Conclusions Fetal nasal hypoplasia combined with other ultrasonic structural abnormalities increased the detection rate of chromosomal abnormalities, simple fetal nasal bone short is not recommended for prenatal diagnosis.