染色体核型异常胎儿的超声检查分析

Analysis of Ultrasonographic Examination in Fetuses with Chromosome Karyotype Abnormalities

目的分析超声引导下经腹绒毛活检、脐静脉穿刺取血及羊膜腔穿刺诊断的染色体核型异常胎儿的超声图像特征。方法应用IU22彩色多普勒超声诊断仪对胎儿行超声检查,并结合血清学化验,在超声引导下,经腹绒毛活检、脐静脉穿刺取血及羊膜腔穿刺行胎儿染色体检查。结果47例染色体异常胎儿中,超声诊断胚胎停育者14例(29.8%),余33例超声检查发现畸形27例(81.82%),畸形数>2处者19例,合并心脏畸形11例。异常核型中三体型者27例(57.4%),其中18三体12例,21三体5例,13三体5例,16三体5例,其余为45X等。18三体占三体型的44.4%(12/27)。结论妊娠早、中期应行彩色多普勒超声检查,多数染色体核型异常的胎儿可发现声像图异常。在超声引导下绒毛活检,羊膜腔、脐静脉穿刺,行染色体核型分析可显著提高染色体核型异常胎儿的检出率和诊断率。

Objective To investigate the ultrasound image characteristics of the fetuses with chromosome karyotype abnormalities. Methods Some fetuses were examined by ultrasound with Philips IU22 Color Doppler ultrasonoscope,and the chromosome karyotypes of the fetuses were analysed by ultrasound-guided chorionic villi biopsy,percutanous umbilical blood cordocentesis and amniocentesis,along with serological test. Results In 47 fetuses with abnormal chromosome karyotype,14 with embryo growth arrest（29.8%,14/47） were identified by ultrasonography. In the other 33 fetuses, 27 with malformations were found （81.82%, 25/33）. There were 19 fetuses with more than 2 malformations, 11 fetuses complicated with heart malformations. Trisomy ranked the top of all abnormal chromosome karyotypes （57.4%, 27/47）. There were 12 eases with Trisomy 18, 5 with Trisomy 21, 5 with Trisomy 13, 5 with Trisomy 16, with the rest being 45X, etc. Among them, Trisomy 18 held the highest ratio （44.4%, 12/27）. Conclusion Ultrasound screening should be performed at the early or intermediate stage of pregnancy. Ultrasonogram abnormality could be observed in most of the fetuses with abnormal chromo- some karyotype. Analysis of chromosome karyotype, performed with ultrasound-guided chorionic villi biopsy, pereutanous umbilical blood cordoeentesis and amniocentesis, will significantly raise the detection rate and diagnostic rate of the fetus with abnormal chromosome karyotype.