Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

  • Akiko Takashima | takashima-04@sakura.med.toho-u.ac.jp Department of Obstetrics and Gynecology, Toho University Medical Center Sakura Hospital, Japan.
  • Naoki Takeshita Department of Obstetrics and Gynecology, Toho University Medical Center Sakura Hospital, Japan.
  • Toshihiko Kinoshita Department of Obstetrics and Gynecology, Toho University Medical Center Sakura Hospital, Japan.

Abstract

A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.

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Published
2016-08-08
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Section
Case Reports
Keywords:
Amniocentesis, chromosomal microarray analysis, microduplication.
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How to Cite
Takashima, A., Takeshita, N., & Kinoshita, T. (2016). Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray. Clinics and Practice, 6(3). https://doi.org/10.4081/cp.2016.852