BÁO CÁO MỘT TRƯỜNG HỢP LẦN ĐẦU TIÊN PHÁT HIỆN TẠI VIỆT NAM: PHÙ THAI LIÊN TIẾP DO ĐỘT BIẾN GEN GUSB

Abstract

Hydrops fetalis is a condition of excess fluid accumulation in the fetus which has many causes. Recently, recurrent fetal hydrops is thought to be a symtom of many lysosomal storage disorders, including mucopolysaccharidosis, an autosomal recessive inheritance. Phenotypes are highly variable, ranging from severe, fatal hydrops to mildly affected fetus surviving into adulthood. We report a case discovered for the first time in Vietnam with a history of fetal hydrops two consecutive times. Amniocentesis results showed that the fetus carried a complex zygotic mutations c.1325C>T and c.1843C>T on the GUSB gene related to the metabolic disorder syndrome Mucopolysaccharidosis VII causing hydrops fetalis. Analyze these two variants by Sanger sequencing on the remaining DNA sample of the first terminated fetus also carrying two similar variants, the two fetuses received 02 alleles from two parents with heterozygous genotypes. Prenatal counseling is given for subsequent pregnancies such as pre-implantation genetic testing for monogenic disorders (PGT-M) or prenatal diagnosis by amniocentesis or chorionic villus sampling.