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目的探讨产前诊断的临床意义。方法对符合产前诊断指征的2876例孕妇在妊娠18周～34周进行羊膜腔穿刺或脐血穿刺,抽取羊水或脐血进行细胞培养,分析胎儿染色体核型。结果 2876例产前诊断中发现染色体异常256例,占受检人数的8.9%。其中高龄组中染色体异常的检出率最高,占该指征的20.3%,与唐筛高风险组、彩超异常组、不良妊娠史组、孕早期用药组及其他组比较,差异有统计学意义(P<0.05);而唐筛高风险组、彩超异常组、不良妊娠史组、孕早期用药组及其他组的染色体异常的检出率分别为4.3%、11%、10.5%、4.7%、7.9%,组间两两比较,差异无统计学意义(P>0.05)。在染色体异常核型分布中,染色体多态性最多150例(58.6%),其次为染色体数目异常55例(21.6%),其中有54例染色体数目异常和5例嵌合体的孕妇选择引产,其余均继续妊娠。Logistic回归显示年龄≥35岁、彩超异常、不良妊娠史为异常染色体发生率的相关危险因素。结论染色体异常检出率的高低与产前诊断指征有关,产前诊断是防止异常染色体儿出生的有效手段,应扩大产前筛查的覆盖面,使更多的家庭受益。
Objective To explore the clinical significance of prenatal diagnosis. Methods 2876 pregnant women with prenatal diagnosis indications were subjected to amniocentesis or umbilical cord blood puncture during 18 weeks to 34 weeks of gestation, and amniotic fluid or umbilical cord blood was taken for cell culture to analyze fetal karyotype. Results A total of 256 chromosomal abnormalities were found in 2876 cases of prenatal diagnosis, accounting for 8.9% of the subjects tested. Among them, the detection rate of chromosomal abnormalities in the senior group was the highest, accounting for 20.3% of the indications, which was significantly different from the high risk group of Tang Screen, the abnormal color group, the unhealthy pregnancy history group, the first trimester drug group and the other groups (P <0.05). The positive rates of chromosomal abnormalities in high-risk Tang screening group, abnormal color group, poor pregnancy history group, early pregnancy medication group and other groups were 4.3%, 11%, 10.5%, 4.7% 7.9%. There was no significant difference between the two groups (P> 0.05). Chromosome aberrations karyotype distribution, the highest polymorphism in 150 cases (58.6%), followed by 55 cases of chromosomal abnormalities (21.6%), of which 54 cases of chromosomal abnormalities and 5 cases of chimerism, pregnant women choose to induce labor, the rest All continue the pregnancy. Logistic regression showed that the age ≥ 35 years old, abnormal color Doppler ultrasound, adverse pregnancy history as the abnormal chromosome risk factors. Conclusion The detection rate of chromosomal abnormalities is related to prenatal diagnosis. Prenatal diagnosis is an effective way to prevent the birth of abnormal chromosomes. The coverage of antenatal screening should be expanded to benefit more families.