早期妊娠自然流产患者的超声表现与绒毛染色体核型分析

Karyotype Analysis on Chorionic Villus of Early Pregnancy Loss in Relation to Different Ultrasound Findings

【目的】探讨早期妊娠自然流产患者的不同超声表现与绒毛染色体异常的关系。【方法】2008年1月至2011年12月,在我院诊治的早期自然流产患者,流产前有定期B超和人绒毛膜促性腺激素(HCG)测定,流产后成功行绒毛细胞培养和染色体核型分析者共183例。根据流产前的B超分为有胎心组和无胎心组,比较两组的染色体核型分析结果有无差异。【结果】183例绒毛染色体核型分析中,检出异常核型109例(59.6%),正常核型74例(40.4%)。有胎心组102例,异常染色体发生率61.8%,无胎心组81例,异常染色体发生率56.8%,两组比较无统计学差异(P>0.05)。有胎心组中最常见的异常染色体为(45,X)、三倍体和16三体,而无胎心组中最常见的异常染色体为16三体,无1例(45,X)和三倍体。有胎心组中可存活常染色体三体(21三体、18三体、13三体)、(45,X)、三倍体29例,占异常染色体的(46.0%),明显高于无胎心组,仅3例,占异常染色体的6.5%,(P<0.05)。在有胎心组中,可存活常染色体三体(21三体、18三体、13三体)、(45,X)、三倍体的胚芽长度平均(17.7±6.4)mm,明显大于其他异常染色体的胚芽长度(8.8±5.3)mm(P<0.05)和正常染色体的胚芽长度(11.1±8.4)mm(P<0.05)。【结论】绒毛染色体异常是早期自然流产的主要原因,可存活常染色体三体(21三体、18三体、13三体)、(45,X)、三倍体多发生于已有胎心的自然流产者。

[ Objective] To compare the chromosomal karyotype of chorionic villus in early pregnancy loss in relation to different ultrasound findings. [ Methods ] From January 2008 to December 2011, 183 patients with early pregnancy loss were evaluated by regular ultrasound and human chorionic gonadotrophin （HCG） during pregnancy and karyotyping was performed on chorionic villus after curettage. The proportion and type of chromosomal anomalies in two groups defined by presence or absence of cardiac activity before miscarriage were compared. [Results] Of the 183 samples from early spontaneous abortion, 109 cases （59.6%） were abnormal karyotype, 74 cases （40.4%） were normal karyotype. Chromosomal abnormality rate was similar for miscarriage with absent or present cardiac activity （61.8% vs 56.8% ）, （P 〉 0.05）. Frequencies for viable autosomal trisomies, （45, X）, triploidy in miscarriage with presence of cardiac activity were significantly higher than that of absence of cardiac activity （46.0% vs 6.5%）, （P 〈 0.05）. The most frequent chromosomal anomalies in miscarriage with presence of cardiac activity were （45, X）, triploidy and trisomy 16. While trisomy 16 was most frequent in miscarriage with absence of cardiac activity. No （45 ,X） and triploidy Were found in this group. In present with cardiac activity group, the embryonic pole was larger in viable autosomal trisomies, （45, X）, triploidy group （17.7 ±6.4 mm） than that of other chromosomal anomaly （8.8±5.3 mm） and normal karyotype （11.1 ±8.4 mm）. [ Conclusion ] Chromosomal anomaly is a major reason of early spontaneous abortion. Viable autosomal trisomies, （45, X）, triploidy is more frequent in spontaneous abortion after demonstration of cardiac activity.