Evidence map›Paper›PMID 32055256›Full record

ArticleMolecular cytogenetics2020

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

J B Wu, J Sha, J F Zhai, Y Liu, B Zhang

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PubMed Full text at PMC Publisher
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Article in Molecular cytogenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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3citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Parental bias in expression and interaction of genes in the equine placenta.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  3. Article
4 · The record

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5 · Who and what money

Authors and funding

5 authors.

J B Wu *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.
J Sha *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.
J F Zhai1Department 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.
Y Liu2Department of Ultrasonography, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of Medical College of Southeast University, Xuzhou, China.
B Zhang1Department 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.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThis study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound.

methodsThe 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.

resultsThe 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.

conclusionsThe 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.

Indexed as

Cytogenetic analysisFetusPartial 14q duplicationPartial 9p duplicationSingle nucleotide polymorphism

Identifiers

PMID32055256
PMCPMC7006427

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