Wu J B, Sha J, Zhai J F, Liu Y, Zhang B
1Department of Prenatal Diagnosis Medical Cente, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of Medical College of Southeast University, 199 South Jiefang Road, Xuzhou, 221009 Jiangsu China.
2Department of Ultrasonography, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of Medical College of Southeast University, Xuzhou, China.
Mol Cytogenet. 2020 Feb 6;13:6. doi: 10.1186/s13039-020-0473-x. eCollection 2020.
This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound.
The chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared with the parents' karyotypes.
The fetal abnormal karyotype was 47,XY,+der(14)(9;14)(p23;q22). The SNP array revealed a duplicate 11.8-Mb 9p23-p24.3 fragment and a duplicate 29.6-Mb 14q11.2-q21.3 fragment. The peripheral blood karyotype of the mother was 46,XX,t(9;14)(p23;q22), while the father's was normal at the level of 300400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550650 bands. These results indicated that the fetal chromosomal abnormality probably derived from the mother. The fetal nuchal translucency thickness was 3.5 mm, and the fetal heart was detected with around 1.0-mm ventricular defect by the ultrasound examination at 12-week gestation. The couple decided to terminate the pregnancy. They opted for in vitro fertilization and embryo transfer for the fourth pregnancy, which was successful.
The SNP array combined with cytogenetic analysis was particularly effective in identifying abnormal chromosomal rearrangements. These methods combined with the existing database information and fetal ultrasonography might provide a comprehensive and efficient way for the prenatal assessment of fetal situations. Preimplantation genetic diagnosis might effectively assist those women with an adverse pregnancy history in their next pregnancy.
本研究旨在报告一例患有母体部分9号染色体短臂和14号染色体长臂三体的胎儿及其超声检测到的表型。
通过G显带和基于培养羊膜细胞单核苷酸多态性（SNP）芯片的染色体微阵列分析对胎儿的染色体重排进行特征分析，并与父母的核型进行比较。
胎儿异常核型为47,XY,+der(14)(9;14)(p23;q22)。SNP芯片显示存在一个重复的11.8Mb 9p23 - p24.3片段和一个重复的29.6Mb 14q11.2 - q21.3片段。母亲外周血核型为46,XX,t(9;14)(p23;q22)，父亲在300400条带水平核型正常。高分辨率核型分析在550650条带水平证实母亲存在相同异常。这些结果表明胎儿染色体异常可能源于母亲。孕12周超声检查时，胎儿颈部半透明厚度为3.5mm，检测到胎儿心脏有一个约1.0mm的室间隔缺损。这对夫妇决定终止妊娠。他们第四次妊娠选择体外受精和胚胎移植，此次妊娠成功。
SNP芯片与细胞遗传学分析相结合在识别异常染色体重排方面特别有效。这些方法结合现有数据库信息和胎儿超声检查可能为胎儿情况的产前评估提供一种全面而有效的方法。植入前基因诊断可能有效帮助有不良妊娠史的女性进行下次妊娠。
