Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with XXXX .

@entity1 @entity154 @entity8 @entity4264 @entity1276 @entity15740 @entity5456 @entity74 @entity4242 @entity21956 @entity6789 @entity65
OBJECTIVE: The objective of this study was to characterize the @entity74 in two fetuses with @entity154 in prenatal screening. MATERIALS AND METHODS: The mother of Fetus 1 was 26  years old and had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound and magnetic resonance imaging (MRI) at 28  weeks of gestation showed mild @entity1276 , @entity4242 , and agenesis of the @entity6789 . The mother of Fetus 2 was 25  years old and also had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 32  weeks of gestation showed the presence of @entity8 with @entity15740 bilaterally and a persistent @entity4264 (PLSVC). Both pregnant @entity1 underwent cord blood samplings because of the abnormal imaging results. Karyotype analysis revealed normal results in the two fetuses. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the cord blood and parental blood samples. Ultimately, the pregnancies were both terminated. RESULTS: CMA detected a 1.56-Mb duplication at 17q12 in Fetus 1 and a 1.93-Mb deletion of 17q12 in Fetus 2. Both the duplicated and deleted regions included the @entity5456 and @entity21956 genes. Neither the duplication nor deletion was inherited from the parents. CONCLUSION: This study is the first to report the prenatal diagnosis of a 17q12 duplication syndrome. Our results further confirmed that genes in this region, including @entity5456 and @entity21956 , are essential for normal brain and kidney development, and also indicated some genes that may be associated with the @entity65 . Combined with imaging examination, the use of CMA will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with @entity154 .
