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目的探讨早孕期经腹绒毛活检在产前诊断出生缺陷胎儿中的应用价值。方法收集、分析早孕期185例高危孕妇经腹绒毛活检的指征及染色体核型分析,地贫基因诊断结果资料。结果穿刺成功率99.5%(1例后壁胎盘穿刺失败),染色体核型检查细胞培养成功183例,失败2例,成功率98.9%。术后并发症,1例胎儿颈项透明层(NT)增厚胎儿术后死胎(核型为21-三体),流产率0.54%。绒毛活检指征中为胎儿淋巴水囊瘤、NT增厚、高龄妊娠、早孕期血清学筛查高风险、超声结构异常、夫妻双方地中海贫血。染色体异常检出率最高的指征为胎儿颈部淋巴水囊瘤,其次为超声结构异常,NT增厚。24例染色体异常胎儿,其中非整倍体22例,染色体结构异常2例。68例夫妻双方同型地贫基因携带孕妇检测出重型α或β地中海贫血胎8例。结论绒毛活检用于早孕期产前诊断出生缺陷胎儿有重要价值,尤其结合早孕期筛查超声为早筛查早诊断胎儿严重遗传性疾病提供重要的方法。为临床遗传咨询提供重要的依据。
Objective To investigate the value of transabdominal villi biopsy in prenatal diagnosis of fetal birth defects. Methods We collected and analyzed the indications and chromosomal karyotypes of transabdominal villi biopsy in 185 high-risk pregnant women in the first trimester and the diagnostic data of thalassemia gene. Results The success rate of puncture was 99.5% (one case of posterior wall placental puncture failed). The chromosome karyotype was successfully cultured in 183 cases and failed in 2 cases with a success rate of 98.9%. Postoperative complications, 1 case of fetal neck transparent layer (NT) thickened fetus after fetal death (karyotype 21 - trisomy), abortion rate of 0.54%. Villus biopsy indications for fetal lymphatic cyst tumor, NT thickening, geriatric pregnancy, high risk of serological screening in early pregnancy, abnormal ultrasound structure, the spouses of both Mediterranean anemia. The highest detection rate of chromosomal abnormalities for fetal neck lymph nodes water tumor, followed by ultrasonic structural abnormalities, NT thickening. 24 cases of chromosomal abnormalities fetus, aneuploidy in 22 cases, chromosomal abnormalities in 2 cases. Eighty-eight cases of severe alpha or beta thalassemia were detected in 68 pregnant women with the same type of thalassemia gene. Conclusions Villus biopsy is valuable in prenatal diagnosis of birth defects in fetuses in early pregnancy, especially for early screening of early diagnosis of fetal serious genetic diseases, especially in early pregnancy screening ultrasound. Provide important basis for clinical genetic counseling.