Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report
Abstract Objective This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. Methods The chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP)...
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BMC
2020-02-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-020-0473-x |
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| author | J. B. Wu J. Sha J. F. Zhai Y. Liu B. Zhang |
| author_facet | J. B. Wu J. Sha J. F. Zhai Y. Liu B. Zhang |
| author_sort | J. B. Wu |
| collection | DOAJ |
| description | Abstract Objective This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. Methods 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. Results 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 300~400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550~650 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. Conclusions 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. |
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| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-17T08:48:07Z |
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| series | Molecular Cytogenetics |
| spelling | doaj.art-c6303cab7f744f0aa8b7051cddf869a22022-12-21T21:56:09ZengBMCMolecular Cytogenetics1755-81662020-02-011311910.1186/s13039-020-0473-xPrenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case reportJ. B. Wu0J. Sha1J. F. Zhai2Y. Liu3B. Zhang4Department of Prenatal Diagnosis Medical Cente, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of Medical College of Southeast UniversityDepartment of Prenatal Diagnosis Medical Cente, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of Medical College of Southeast UniversityDepartment of Prenatal Diagnosis Medical Cente, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of Medical College of Southeast UniversityDepartment of Ultrasonography, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of Medical College of Southeast UniversityDepartment of Prenatal Diagnosis Medical Cente, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of Medical College of Southeast UniversityAbstract Objective This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. Methods 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. Results 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 300~400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550~650 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. Conclusions 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.https://doi.org/10.1186/s13039-020-0473-xCytogenetic analysisFetusPartial 9p duplicationPartial 14q duplicationSingle nucleotide polymorphism |
| spellingShingle | J. B. Wu J. Sha J. F. Zhai Y. Liu B. Zhang Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report Molecular Cytogenetics Cytogenetic analysis Fetus Partial 9p duplication Partial 14q duplication Single nucleotide polymorphism |
| title | Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report |
| title_full | Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report |
| title_fullStr | Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report |
| title_full_unstemmed | Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report |
| title_short | Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report |
| title_sort | prenatal diagnosis of maternal partial trisomy 9p23p24 3 and 14q11 2q21 3 in a fetus a case report |
| topic | Cytogenetic analysis Fetus Partial 9p duplication Partial 14q duplication Single nucleotide polymorphism |
| url | https://doi.org/10.1186/s13039-020-0473-x |
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