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目的对在孕早期超声发现胎儿异常的孕妇接受绒毛取材术后的结果情况进行分析总结,进一步指导临床咨询。方法选取孕早期(11~13+6w)广东省妇幼保健院超声筛查中发现胎儿异常并且接受经腹绒毛取材术的154例孕妇,回顾其产前诊断结果的情况,进行描述性分析。结果 (1)超声筛查异常例数中,软指标NT增厚(≥2.5mm)占总病例数79.2%(122/154),其中合并夫妻双方α地贫有13例。其余均为明显超声结构异常,占20.8%(32/154),主要表现为淋巴水囊瘤23例(72%)和其他多发结构畸形9例(28%)。(2)共检测出染色体异常52例,其中平衡易位3例,嵌合体6例,非平衡性染色体结构重排5例(包括微缺失/重复3例),数目异常38例。6例嵌合体中,接受进一步羊水穿刺原位培养的3例均证实为假嵌合。明显结构异常的胎儿染色体异常率高,占66%(21/32)。胎儿NT增厚合并夫妇双方α地贫的13例病例中,胎儿重型α地贫有8例(8/13),远高于染色体异常的比例(1/13)。排除假嵌合的情况后,NT增厚的染色体异常率为23%(28/122)。结论胎儿孕早期超声筛查异常,染色体异常的风险均明显增高,尤其胎儿结构异常者,均应建议进一步介入性产前诊断进行染色体核型分析及array-CGH检查,并根据具体的异常情况向患者交待病情风险,提供合理指导。
OBJECTIVE To analyze and summarize the results of villus harvesting in pregnant women who have found fetal abnormalities during the first trimester of pregnancy and further guide the clinical consultation. Methods A total of 154 pregnant women who had abnormal fetus and underwent abdomen depilation were selected during the first trimester of pregnancy (11 ~ 13 + 6w) in Guangdong ultrasound screening. Their prenatal diagnosis was retrospectively analyzed. Results (1) Among the abnormal number of ultrasound screening cases, the soft index NT thickening (≥2.5mm) accounted for 79.2% (122/154) of the total number of cases, including 13 cases of α-thalassemia. The rest were obvious ultrasonic structural abnormalities, accounting for 20.8% (32/154), mainly in 23 cases (72%) of lymphatic cystadenomas and 9 cases (28%) of other multiple structural deformities. (2) A total of 52 chromosomal abnormalities were detected, including 3 cases of balanced translocation, 6 cases of chimerism, 5 cases of unbalanced chromosomal rearrangement (including 3 cases of microdeletion / duplication) and 38 cases of abnormalities. 6 cases of chimerism, in-situ amniotic fluid biopsy in 3 cases were confirmed as pseudo-chimerism. Significant structural abnormalities in fetal chromosomal abnormalities, accounting for 66% (21/32). Fetal NT thickened with both couples of α-thalassemia cases of 13 cases of fetal severe α-thalassemia in 8 cases (8/13), much higher than the proportion of chromosomal abnormalities (1/13). Excluding the false-chimerism, NT thickened chromosomal abnormalities were 23% (28/122). Conclusion Fetal ultrasound screening during early pregnancy abnormalities, the risk of chromosomal abnormalities were significantly increased, especially fetal abnormalities should be further interventional prenatal diagnosis of chromosome karyotype analysis and array-CGH examination, and according to the specific abnormalities Patients explain the risk of illness, to provide reasonable guidance.