Genetic analysis of a fetus with mosaic trisomy 12 and severe heart defects and a literature review
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目的 对1例12三体嵌合伴严重心脏缺陷的胎儿进行遗传学研究，探讨其染色体异常与临床表型以及妊娠结局之间的关系。 方法 选取于2021年5月17日因"超声提示胎儿心脏发育异常"就诊于连云港市妇幼保健院的1例33岁孕妇及其胎儿作为研究对象。收集胎儿的临床资料，采集孕妇的羊水样本，对其进行染色体G显带核型分析及染色体微阵列分析(CMA)，追踪随访新生儿的情况。在中国知网、万方数据以及PubMed数据库中以"12三体嵌合""mosaic trisomy 12""trisomy 12 mosaicism"为关键词，检索1992年6月1日至2022年6月1日的相关文献并进行回顾分析。 结果 孕妇33岁，孕22+6周超声显示胎儿心脏发育异常，疑似肺静脉异位引流。G显带分析显示胎儿染色体核型为mos 47，XX，+12[1]/46，XX[73]，嵌合比例为1.35%。CMA检测结果提示胎儿12号染色体存在约18%的三体型嵌合。孕妇于孕39周分娩1女婴，存在严重的先天性心脏病，头围偏小，耳位低及外耳畸形，3个月后夭折。文献回顾共检索到9篇文献，12三体嵌合活产儿的临床表型因嵌合影响不同的器官而表现多样，可导致先天性心脏病或其他脏器及面部畸形，导致不良的妊娠结局。 结论 12三体嵌合是导致新生儿严重心脏缺陷的原因，超声检查结果对胎儿的预后评估具有重要的价值。 Objective To explore the genetic basis for a fetus with severe heart defect and mosaic trisomy 12, and the correlation between chromosomal abnormalities and clinical manifestations and pregnancy outcome. Methods A 33-year-old pregnant woman who presented at Lianyungang Maternal and Child Health Care Hospital on May 17, 2021 due to abnormal fetal heart development revealed by ultrasonography was selected as the study subject. Clinical data of the fetus were collected. Amniotic fluid sample of the pregnant women was collected and subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). The CNKI, WanFang and PubMed databases were searched with key words, with the retrieval period set as from June 1, 1992 to June 1, 2022. Results For the 33-year-old pregnant woman, ultrasonography at 22+ 6 gestational weeks had revealed abnormal fetal heart development and ectopic pulmonary vein drainage. G-banded karyotyping showed that the fetus has a karyotype of mos 47, XX, + 12[1]/46, XX[73], with the mosaicism rate being 1.35%. CMA results suggested that about 18% of fetal chromosome 12 was trisomic. A newborn was delivered at 39 weeks of gestation. Follow-up confirmed severe congenital heart disease, small head circumference, low-set ears and auricular deformity. The infant had died 3 months later. The database search has retrieved 9 reports. Literature review suggested that the liveborn infants with mosaic trisomy 12 had diverse clinical manifestations depending on the affected organs, which had included congenital heart disease and/or other organs and facial dysmorphisms, resulting in adverse pregnancy outcomes. Conclusion Trisomy 12 mosaicism is an important factor for severe heart defects. The results of ultrasound examination have important value for evaluating the prognosis of the affected fetuses.
Objective To explore the genetic basis for a fetus with severe heart defect and mosaic trisomy 12, and the correlation between chromosomal abnormalities and clinical manifestations and pregnancy outcome. Methods A 33-year-old pregnant woman who presented at Lianyungang Maternal and Child Health Care Hospital on May 17, 2021 due to abnormal fetal heart development revealed by ultrasonography was selected as the study subject. Clinical data of the fetus were collected. Amniotic fluid sample of the pregnant women was collected and subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). The CNKI, WanFang and PubMed databases were searched with key words, with the retrieval period set as from June 1, 1992 to June 1, 2022. Results For the 33-year-old pregnant woman, ultrasonography at 22+ 6 gestational weeks had revealed abnormal fetal heart development and ectopic pulmonary vein drainage. G-banded karyotyping showed that the fetus has a karyotype of mos 47, XX, + 12[1]/46, XX[73], with the mosaicism rate being 1.35%. CMA results suggested that about 18% of fetal chromosome 12 was trisomic. A newborn was delivered at 39 weeks of gestation. Follow-up confirmed severe congenital heart disease, small head circumference, low-set ears and auricular deformity. The infant had died 3 months later. The database search has retrieved 9 reports. Literature review suggested that the liveborn infants with mosaic trisomy 12 had diverse clinical manifestations depending on the affected organs, which had included congenital heart disease and/or other organs and facial dysmorphisms, resulting in adverse pregnancy outcomes. Conclusion Trisomy 12 mosaicism is an important factor for severe heart defects. The results of ultrasound examination have important value for evaluating the prognosis of the affected fetuses.
万方数据
