Mu, Kai, Chen, Li Sha, Wen, Juan, Liu, Yi, Liu, Na, Hua Cao, Dong
Published: February 20, 2018
Genet. Mol. Res. 17(1): gmr16039878
DOI: https://doi.org/10.4238/gmr16039878

Cite this Article:
K. Mu, L.Sha Chen, J. Wen, Y. Liu, N. Liu, D.Hua Cao (2018). Prenatal diagnosis of ventricular septal defect and trisomy 7q11.23q21.3 in two fetuses: A case report. Genet. Mol. Res. 17(1): gmr16039878. https://doi.org/10.4238/gmr16039878

About the Authors
Mu, Kai, Chen, Li Sha, Wen, Juan, Liu, Yi, Liu, Na, Hua Cao, Dong

Corresponding Author
Dong-Hua Cao
Email: dhcao427@sina.com

ABSTRACT

The objective of prenatal diagnosis (PD) is to provide prenatal diagnostic testing services for genetic conditions that enable families to make informed choices consistent with their individual needs and values, and to support them in deal with the outcome of such testing. This case we reported is about two fetuses with ventricular septal defect (VSD) and trisomy 7q11.23q21.3. With Karyotypic analyses, array-SNP and FISH, the trisomy 7q11.23q21.3 of two fetuses inherit from her mother. In her family pedigree, the carriers are all normal, especially heart. Because the defects with diameter is 3.1mm,2.9mm respectively without other abnormal phenotype, so surgery and catheter interventional treatment are both good methods to treat the VSD. Although we didn’t advise the woman terminal this pregnancy, the woman need take examinations to observe two fetuses regularity by ultrasound examination in the hospital.

Key words: Prenatal diagnosis, VSD, Array-SNP, FISH, Trisomy 7q11.23q21.3.