摘要
目的通过羊水细胞染色体核型分析结果,探讨胎儿染色体异常的临床高危因素,进一步提高羊膜腔穿刺对胎儿异常染色体核型的检出率。方法选取2005年2月至2005年10月在北京妇产医院产前诊断中心决定羊膜腔穿刺的555例妊娠18-24周的孕妇,对羊水中胎儿脱落细胞进行培养,采用原位制片、G带染色技术进行染色体分析。结果共15例异常染色体核型。高龄孕妇(年龄≥35岁)与血清筛查高危组胎儿染色体异常的发生率差异无显著性(P=0.600)。但在高龄孕妇中,年龄达到或超过40岁者,胎儿染色体异常的发生率显著增高。虽然父亲的年龄在胎儿染色体正常与异常组间的差异有显著性意义,但在年龄低于35岁的孕妇中,上述差异美有显著性意义。B超提示胎儿"软指标"异常组染色体异常的发生率与未提示异常组的差异有极显著性(P=0.000)。结论血清筛查高危者与高龄孕妇都有进行产前诊断的必要性。对于B超提示胎儿异常者应警惕胎儿染色体异常。
Objective：Detect the clinical high risk factors of fetal chromosomal abnormalities by analysis of karyotypically with amniocentensis,increasing the detect rate of aminiocentensis.Methods：recruiting 555 preganant women during 18 to 24 gestational weeks,besides 5,they have the indication of aminiocentensis include：age is or over 35 years,delivered chromosomal abnormalities baby before,serum screening show high risk,ultrasound ＂softer marker＂ abnormal,one of the couple developed chromosomal abnormalities or exposed to harmful environments and getting amniocentensis in The Prenatal Diagnose Center of Beijing Obstetric and Gynecological Hospital,analysis the karyotypically of fetal cast-off cells cultivated by orthotope slice and G band staining technique.Analysis the data by SPSS 11.5 softy ware.Result：There are 15 chromosomal abnormalities,6 18-trisome,6 21-trisome,1 XYY,1 unbanlenced translocation,1banlenced translocation.The incidence of chromosomal abnormalities in serum screening high risk is 2.09%,it is 2.37% in the senior preganant group,no significantly difference of chromosomal abnormalities between the two groupes（P=0.600）.The incidence of chromosomal abnormalities increase obviously when the pregnants elder than 40 years.The average of father＇s age in the chromosomal abnormalities group is about 39 years elder than that in normal chromosomal group 36 years old（P=0.044）,but this result is affected by the age of mother,because of excluding senior preganant,the age of father appeared no significant difference during the normal and abnormal chromosomal group.The significantly difference also appeared between the normal and abnormal ultrasound measurement group（P=0.000）.The ultrasound ＂soft marker＂ considered as abnormal echo in ventricle,intensification of intestine echo,pelviectasis,neck diaphanotheca thickening,choroid plexus cyst,gastric vacuole not appearing etc.There are 20 cases appeared positive soft marker,and 5 are chromosomal abnormalities 23.8%（5/20）,the rate of detection higher than that of normal ultrasound group 1.9%（10/524）,it is significant difference（P=0.000）,same as the difference between the abnormal ultrasound cases and the serum screening high risk group（P=0.0003）.Comparing the vaginal bleeding rate of early preganant,no significant difference appeared between the normal and abnormal chromosomal karyotypically groups.Conclusion：Because of the maternal serum β-HCG、AFP level changing with different gestational week,verifing the exact gestational week is very important during serum screening.Ultrasound screening is necessary as early as possible for menstruation irregularis after menolipsis.Both women with serum screening high risk and 35 years of age or older,especially over 40 years should be performed prenatal diagnose.The ultrasound ＂soft marker＂ in the second trimester should be concerned as a screening marker.
出处
《中国优生与遗传杂志》
2008年第5期32-34,共3页
Chinese Journal of Birth Health & Heredity
