染色体检测联合超声在孕早期胎儿发育异常筛查中的意义研究

目的探讨鼻骨超声(NT)联合染色体检测在孕早期胎儿鼻骨发育异常筛查中的临床意义。方法收集2013年1月至2017年1月期间本院产前超声筛查中的291例鼻骨缺失或发育不良孕妇为回顾性分析对象,所有孕妇均行产前超声NT检查和脐静脉血染色体检测,对鼻骨缺失或发育不良胎儿染色体检查结果进行分析,分析超声鼻骨缺失与超声鼻骨发育不良胎儿、超声单纯鼻骨异常与合并其他超声异常胎儿的染色体检查结果差异,统计随访的妊娠结果情况。结果 291例超声鼻骨异常胎儿中,共34例(占比11.68%)染色体检查异常,其中染色体数目异常胎儿共25例(占比73.54%),性染色体异常胎儿共3例(占比8.82%),染色体结构异常胎儿共6例(占比17.64%)。超声鼻骨缺失与超声鼻骨发育不良胎儿的染色体检查异常率比较(11.54%vs11.76,χ^2=0.003,P>0.05)。合并其他超声异常胎儿的染色体检查异常率(合并心脏超声异:10.45%;合并侧脑室增:15.38%;合并泌尿系统异常:20.00%;合并骨发育异常:10.87%)高于超声单纯鼻骨异常胎儿的染色体检查异常率(5.26%)(P<0.05)。成功随访204例,其中48例(包括8例染色体检查异常胎儿)继续妊娠至分娩。48例分娩产妇中,40例(均为染色体检查正常胎儿)出生后鼻正常,且随访至出生后6个月未见鼻异常,8例(均为染色体检查异常胎儿)为鼻缺陷,或鼻缺失,或鼻部功能异常。结论孕早期胎儿超声筛查出的鼻骨发育异常与胎儿染色体异常的关系密切,但超声鼻骨缺失与鼻骨发育不良的胎儿染色体异常情况无明显差异,而超声单纯鼻骨异常胎儿与合并其他超声异常胎儿的染色体检查情况存在差异,故建议超声鼻骨发育异常胎儿应进行孕早期介入性产前染色体检查,才利于临床诊断和提升妊娠质量。

The significance of ultrasound NT combined with chromosome detection in screening for fetal nasal bone dysplasia in early pregnancy

Objective:To explore the clinical significance of nasal bone ultrasonography(NT)combined with chromosome detection in screening fetal nasal bone dysplasia in early pregnancy.Methods:291 pregnant women with nasal bone defect or dysplasia during prenatal ultrasound screening in our hospital from January 2013 to January 2017 were retrospectively analyzed.All pregnant women underwent prenatal ultrasound NT examination and umbilical vein blood chromosome detection.The results of chromosome examination of fetuses with nasal bone defect or dysplasia were analyzed.The fetuses with nasal bone defect and nasal bone dysplasia by ultrasound and ultrasound alone were analyzed.Chromosome examination results of fetuses with nasal bone abnormalities were different from those of fetuses with other ultrasound abnormalities.Pregnancy results of follow-up were counted.Result:Of the 291 fetuses with ultrasonic nasal bone abnormalities,34(11.68%)had chromosomal abnormalities,of which 25(73.54%)had abnormal chromosomes and 3(8.82%)had abnormal sex chromosomes.A total of 6 fetuses with abnormal chromosome structure(17.64%).The abnormal rate of chromosome examination of fetuses with nasal bone defect and nasal bone dysplasia by ultrasound was compared(11.54%vs11.76,χ^2=0.003,P>0.05).The abnormal rate of chromosome examination in fetuses with other ultrasound abnormalities(10.45% with cardiac ultrasound,15.38% with lateral ventricle,20.00% with urinary system abnormalities,10.87% with bone development abnormalities)was higher than that in fetuses with simple nasal bone abnormalities(5.26%)(P<0.05).204 cases were followed up successfully,48 of them(including 8 fetuses with abnormal chromosome examination)continued pregnancy to delivery.Of the 48 parturients,40(all normal fetuses examined by chromosome)had normal nose after birth,and no nasal abnormalities were found after 6 months of follow-up.8(all abnormal fetuses examined by chromosome)had nasal defects,or missing nose,or abnormal nasal function.Conclusion:The abnormal nasal bone development screened by ultrasound in early pregnancy is closely related to fetal chromosomal abnormalities,but there is no significant difference between the abnormal fetal chromosomes in the absence of nasal bone and nasal bone dysplasia.The chromosomal examination of fetuses with simple nasal bone abnormalities by ultrasound is different from that of fetuses with other ultrasound abnormalities.Therefore,it is suggested that fetuses with abnormal nasal bone development by ultrasound should be introduced in early pregnancy.Prenatal chromosome examination is conducive to clinical diagnosis and improvement of pregnancy quality.