title: Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray.
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.
authors: Department of Obstetrics and Gynecology, Toho University Medical Center Sakura Hospital , Japan.
authors: Akiko
authors: A
authors: Takashima
authors: Department of Obstetrics and Gynecology, Toho University Medical Center Sakura Hospital , Japan.
authors: Naoki
authors: N
authors: Takeshita
authors: Department of Obstetrics and Gynecology, Toho University Medical Center Sakura Hospital , Japan.
authors: Toshihiko
authors: T
authors: Kinoshita
keywords: Amniocentesis; chromosomal microarray analysis; microduplication