摘要
目的报告1例Wolf-Hirschhorn(WHS)综合征胎儿,探讨多种产前诊断技术联合应用的价值。方法采集孕中期羊水,利用染色体核型和染色体微阵列分析(CMA),后续做父母外周血染色体核型分析溯源。结果胎儿羊水染色体核型分析发现4号染色体短臂末端缺失,其他染色体未见异常;而胎儿CMA检测结果则提示4p16.3p15.31×1,9p24.3p24.1×3;在溯源分析中发现母亲外周血染色体核型正常,父亲外周血染色体核型为46,XY,t(4;9)(p15.3;p24),因此判定胎儿染色体核型为46,XN,der(4)t(4;9)(p15.3;p24)pat。结论当B超检查发现胎儿多发异常时,胎儿染色体核型分析结合CMA有助于发现染色体细微的拷贝数变异,结合父母外周血染色体核型分析溯源,可以提高产前诊断的准确性,为后续遗传咨询提供依据。
Objective To report, and to explore the application of multiple prenatal diagnosis techniques, a case of fetus with Wolf-Hirschhorn syndrome(WHS) was reported. Methods Amniotic fluid was analyzed by chromosome karyotype and chromosomal microarray analysis(CMA). And peripheral blood chromosome examination of parents was used to trace the source. Results The fetal amniotic fluid karyotype was found to be absent at the end of chromosome 4. CMA results showed 4p16.3p15.31×1,9p24.3p24.1×3. The maternal chromosome was normal, and the paternal chromosome was 46,XY,t(4;9)(p15.3;p24). Therefore, the fetal karyotype was determined to be 46,XN,der(4)t(4;9)(p15.3;p24)pat. Conclusion Multiple fetal abnormalities were found during B-mode ultrasound examination. Karyotype analysis of fetal chromosomes combined with CMA and verification is helpful to found sybtle copy number variations. In addition, chromosomal nuclear traceback examination of peripheral blood of parents is also helpful. All these can improve the accuracy of prenatal diagnosis and provide the basis for the follow-up genetic counseling.
作者
唐江
汤素环
李付广
潘秀锋
吴爱娟
TANG Jiang;TANG Suhuan;LI Fuguang;PAN Xiufeng;WU Aijuan(Qingyuan People’s Hospital/Antenatal Diagnosis Center of the Sixth Affiliated Hospital of Guangzhou Medical University,Qingyuan,Guangdong 511520,China)
出处
《中国优生与遗传杂志》
2021年第9期1303-1305,共3页
Chinese Journal of Birth Health & Heredity
