孕中晚期胎儿鼻骨发育异常的遗传学意义分析
发布时间：2018-11-29 09:05
【摘要】：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。
[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.
【作者单位】： 甘肃省妇幼保健院产前诊断中心;
【基金】：中国疾病预防控制中心妇幼合生元母婴营养与健康研究项目(2014FYH012) 甘肃省出生缺陷防控重点实验室培育基地资助项目(1506RTSA158)
【分类号】：R714.53
本文编号：2364576
[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.
【作者单位】： 甘肃省妇幼保健院产前诊断中心;
【基金】：中国疾病预防控制中心妇幼合生元母婴营养与健康研究项目(2014FYH012) 甘肃省出生缺陷防控重点实验室培育基地资助项目(1506RTSA158)
【分类号】：R714.53
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