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目的探讨经腹绒毛活检在孕早期产前诊断中应用价值。方法在超声引导下经腹行绒毛取材,117例均行染色体核型分析,其中72例同时行地贫基因检测。结果检出异常核型10例,嵌合体1例,染色体异常以21-三体型最多,占异常核型的40.0%(4/10),嵌合体后经羊水细胞染色体培养证实核型正常;检出重型地中海贫血17例,其中Hb Bart,s纯合子15例,βCD41-42纯合子2例。117例绒毛活检均1次穿刺成功,1例术后3天胎儿死亡,后核型分析结果为47,XN,+21。结论超声引导下经腹绒毛活检技术是一种安全可行的孕早期产前诊断技术,可以达到早期诊断,降低出生缺陷的目的。
Objective To investigate the value of transabdominal villi biopsy in prenatal diagnosis of early pregnancy. Methods Totally 117 cases underwent transabdominal chorionic villus sampling under the guidance of ultrasound, of which 72 cases were diagnosed as thalassemia gene simultaneously. Results There were 10 cases of abnormal karyotype and 1 case of chimerism. Chromosomal abnormality was the highest in 21-trisomy, accounting for 40.0% (4/10) of abnormal karyotype. Chromosome was confirmed by karyotype of amniotic fluid cells after normalization. Out of 17 cases of thalassemia major, Hb Bart, s homozygous in 15 cases, βCD41-42 homozygotes in 2 cases. 117 cases of villus biopsy were successful puncture, 1 case of fetal death after 3 days, post-karyotype analysis of 47, XN, +21. Conclusion Ultrasound-guided transvaginal villus biopsy is a safe and feasible method of prenatal diagnosis in early pregnancy, which can achieve the purpose of early diagnosis and birth defects.