Prenatal diagnosis and genetic counseling of mosaicism for chromosome t (7; 14) with a favorable outcome

Abstract

Prenatal diagnosis and genetic counseling of mosaicism for chromosome t (7; 14) with a favorable outcome D. Lu1;†, D. Cao2;†, Q. Zhao3;†, X. Chen2; , 1Department of Clinical Laboratory, Women and Children’s Hospital of Hubei Province, Wuhan, Hubei (P.R. China) 2Department of Obstetrics; Women and Children’s Hospital of Hubei Province, Wuhan, Hubei (P.R. China) 3Department of Clinical Laboratory, Dongsheng Area People’s Hospital, Ordos, Inner Mongolia (P.R. China) Summary We report a case of prenatal diagnosis of mosaicism for chromosome t (7; 14) with a favorable fetal outcome. Similar chromosomal abnormalities have been observed in patients with hematologic malignancy. Chromosomal microarray analysis (CMA) revealed no genomic imbalance, prenatal ultrasound examination revealed no intrauterine growth restriction (IUGR) or dysmorphisms in this fetus. Therefore, combination of karyotype analysis, CMA, genetic counseling and prenatal ultrasound will prove a more specific risk evaluation for chromosomal translocation and mosaicism. Key words: Karyotype analysis; CMA; Chromosome translocation; Mosaic; Hematologic malignancy; Prenatal diagnosis.