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目的分析97例胎儿染色体非整倍体异常的临床资料,探讨产前诊断技术的临床应用。方法产前诊断包括羊水穿刺及脐血穿刺的4076例孕妇,检出胎儿染色体非整倍体异常97例。对这97例孕妇的年龄、产前诊断孕周、产前诊断指征和超声检查异常表现等进行分析。产前诊断指征包括:1.唐氏筛查高风险(≤1/270);2.唐氏筛查临界风险(1/270-1/1000);3.唐氏筛查单项筛查指标mom值异常;4.高龄;5.孕早孕超声检查提示胎儿颈项透明层厚度NT增厚≥2.5mm;6.无创产前检测NIPT高风险;7.不良孕产史;8.超声提示胎儿结构异常或软指标异常。结果孕妇平均年龄为31.1±6.59岁,21-三体65例占67%,18-三体10例占10.31%,9-三体2例占2.06%,20-三体且为嵌合体1例,占1.03%,47,NN,+mar2例,占2.06%,性染色体非整倍体17例,占17.53%;其中22(22.68%)例孕妇孕期超声发现异常,4例B超提示软指标异常者中孕期唐筛均为低风险。结论妊娠期多种产前筛查包括早期NT检查、血清学筛查以及NIPT等筛查手段能有效的帮助胎儿常染色体三体的诊断,而孕中晚期的超声检查在产前筛查中具有重要意义。
Objective To analyze the clinical data of 97 cases of fetal chromosomal aneuploidy and discuss the clinical application of prenatal diagnosis. Methods A total of 4076 pregnant women, including amniocentesis and umbilical cord aspiration, were diagnosed prenatally and 97 fetuses with fetal aneuploidy were detected. The age of 97 pregnant women, prenatal diagnosis of gestational age, prenatal diagnosis of indications and abnormalities of ultrasound examination were analyzed. Indications for prenatal diagnosis include: 1. Down’s screening for high risk (≤1 / 270); 2. Down’s screening for critical risk (1 / 270-1 / 1000); 3. Down’s screening for individual screening mom abnormalities; 4. Older age; 5. Early pregnancy ultrasound examination revealed that the thickness of the transparent layer of fetal neck thickness NT ≥ 2.5mm; 6. Noninvasive prenatal detection of high risk of NIPT; 7. Abortion history; 8. Ultrasound prompted fetal structure Abnormal or abnormal soft index. Results The average age of pregnant women was 31.1 ± 6.59 years old, 67 cases accounted for 65 cases of 21-trisomy, 10.31% cases of 10 cases of 18-trisomy, 2.06% cases of 2 cases of 9-trisomy, 1 case of 20-trisomy and 1 case of chimera , Accounted for 1.03%, 47, NN, + mar2 cases, accounting for 2.06%, 17 cases of aneuploidy, accounting for 17.53%; 22 (22.68%) pregnant women were abnormal ultrasound during pregnancy, 4 cases of B- Abnormalities during pregnancy Tang screening are low-risk. Conclusions Various prenatal screening during pregnancy, including early NT examination, serological screening and NIPT screening can effectively help the diagnosis of fetal autosomal trisomy, while the second trimester ultrasound has the following features in prenatal screening: Significance.