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Prenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies

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机构： [a]Medical Genetics and Prenatal Diagnosis, Kunming Maternal and Child Care Hospital, Yunnan, China [b]Yunnan Provincial Key Laboratory of Laboratory Medicine, First Affiliated Hospital of Kunming Medical University, Yunnan, China [c]Ultrasound Department, Kunming Maternal and Child Care Hospital, Yunnan, China

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关键词： Cri-du-chat syndrome Distal trisomy 10q syndrome High-throughput nucleotide sequencing Prenatal diagnosis Ultrasonography

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Objective: The aim of this work was to characterize the genetic abnormalities and prenatal diagnosis indications in one fetus with Cri-du-Chat syndrome with codependent 10q24.2-q26.3 duplication in prenatal screening. Materials and methods: A 31-year-old woman had a second trimester serum screening that indicated the fetus was at low risk. During this pregnancy, the woman underwent amniocentesis at 18+4 weeks' gestation because of adverse fertility history and nuchal fold thickening. Cytogenetic analysis and next-generation sequencing analysis were simultaneously performed to provide genetic analysis of fetal amniotic fluid. According to abnormal results, parental chromosome karyotype of peripheral blood was performed to analysis. Results: CNV-seq detected a 14.00 Mb deletion at 5p15.33-p15.2 and a 34.06 Mb duplication at 10q24.2-q26.3 in the fetus. Cytogenetic analysis of the fetus revealed a karyotype of 46, XY, der(5) t(5;10) (p15.2;q26.3). The karyotype of pregnant women was 46,XX,t(5;10) (p15.2;q24.2). The pregnancy was subsequently terminated after sufficient informed consent. Conclusion: This is the first study that reports prenatal diagnosis of a Cri-du-Chat syndrome with concomitant 10 q24.2-q26.3 duplication. Adverse pregnancy history has to be as an important indicator for prenatal diagnosis, and the genetic factors of abnormal pregnancy should be identified before next pregnancy. Nuchal fold thickening is closely related to fetal abnormalities. Combined with ultrasonography, the use of CNV-seq will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies. © 2021

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出版当年[2021]版：

大类 | 4 区医学

小类 | 4 区妇产科学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区妇产科学

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出版当年[2020]版：

Q4 OBSTETRICS & GYNECOLOGY

最新[2023]版：

Q2 OBSTETRICS & GYNECOLOGY

影响因子： 2 最新[2023版] 1.9 最新五年平均 1.705 出版当年[2020版] 1.713 出版当年五年平均 1.513 出版前一年[2019版] 1.944 出版后一年[2021版]

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第一作者机构： [a]Medical Genetics and Prenatal Diagnosis, Kunming Maternal and Child Care Hospital, Yunnan, China

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