孕中期胎儿性染色体非整倍体的产前超声指标分析  

Prenatal ultrasound index analysis of fetal sex chromosome aneuploidy in the second trimester of pregnancy

作　　者：王耿 庄倩梅 傅婉玉 黄宝加 刘春强 WANG Geng;ZHUANG Qianmei;FU Wanyu;HUANG Baojia;LIU Chunqiang(Prenatal Diagnosis Center,Children′s Hospital,Quanzhou Maternal and Child Health Hospital,Quanzhou,Fujian 362000,China)

机构地区：[1]泉州市妇幼保健院·儿童医院产前诊断中心,福建泉州362000

出　　处：《现代医药卫生》2024年第13期2182-2184,2191,共4页Journal of Modern Medicine & Health

摘　　要：目的 探讨孕中期胎儿性染色体非整倍体(SCA)时产前超声检查出现的指标变化。方法 收集该院产前诊断中心2018年1月至2023年5月孕中期经羊水核型分析确诊为胎儿SCA的病例88例,所纳入病例均进行Ⅱ级或Ⅲ级产前超声检查,且所有病例的SCA结果均经染色体微阵列技术确认,不含100 kb以上的其他拷贝数变异。分析胎儿出现SCA时产前超声检查的指标变化。结果 88例确诊为胎儿SCA的病例中33例47,XXY(32例标准型+1例嵌合体)、21例47,XYY、18例47,XXX(15例标准型+3例嵌合体)、13例45,X(4例标准型+9例嵌合体)、2例48,XXYY、1例48,XXXY。68例在孕18~25周时Ⅱ级或Ⅲ级产前超声检查中未出现异常指标,占比77.3%(68/88);20例出现心脏强回声、脉络丛囊肿、单脐动脉、侧脑室增宽、鼻骨缺失、室间隔缺损、腭裂等异常超声指标。在孕中期出现异常超声指标的病例中,45,X检出率最高,为53.8%(7/13),47,XXX为11.1%(2/18),47,XXY为15.2%(5/33),但指标缺乏显著的特异性。结论 孕中期胎儿的SCA以47,XXY最为常见,其次是47,XYY和47,XXX;孕中期胎儿SCA除了45,X外大部分未出现异常超声指标,而45,X胎儿孕早期常见颈部水囊瘤,中期可伴超声软指标异常,超声检查对45,X的检出有一定意义。Objective To investigate the changes in prenatal ultrasound indexes in fetal sex chromosome aneuploidy(SCA) during the second trimester of pregnancy.Methods A total of 88 cases diagnosed with SCA by amniotic fluid puncture karyotype analysis during the second trimester of pregnancy from January 2018 to May 2023 were collected.All the included cases underwent grade Ⅱ or Ⅲ prenatal ultrasound examination,and the SCA results of all cases were confirmed by chromosomal microarray technology,excluding other copy number variations above 100 kb.The changes of prenatal ultrasound examination indexes when the fetus has SCA were analyzed.Results Among the 88 cases diagnosed with SCA,33 cases were 47,XXY(32 cases of standard type + one cases of chimera),21 cases were 47,XYY,18 cases were 47,XXX(15 cases of standard type + three cases of chimera),13 cases were 45,X(four cases of standard type + nine cases of chimera),two cases were 48,XXYY,one case were 48,XXXY.In 68 cases,there were no abnormal indexes in grade Ⅱ or Ⅲ prenatal ultrasound examination from 18 to 25 weeks of pregnancy,accounting for 77.3%(68/88).In 20 cases,there were cardiac strong echo,choroid plexus cyst,single umbilical artery,lateral ventricle widening,nasal bone loss,ventricular septal defect,and cleft palate.Among the cases with abnormal ultrasound indexes in the second trimester of pregnancy,the detection rate of 45,X was the highest [53.8%(7/13)],47,XXX was 11.1%(2/18),and 47,XXY was 15.2%(5/33),but the indicators lacked significant specificity.Conclusion 47,XXY is the most common SCA in the second trimester of pregnancy,followed by 47,XYY and 47,XXX.Most of the fetal SCA in the second trimester of pregnancy do not show abnormal ultrasound indexes except 45,X,while the neck hygroma is common in the first trimester of the fetus with 45,X,and the soft ultrasound indexes are abnormal in the second trimester.Ultrasound examination has certain significance for the detection of 45,X.

关 键 词：胎儿性染色体非整倍体 超声指标 胎儿 孕中期 

分 类 号：R71[医药卫生—妇产科学] R44[医药卫生—临床医学]