Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome)
Resource
GENETIC COUNSELING v.18 n.1 pp.49-56
Journal
GENETIC COUNSELING
Journal Volume
v.18
Journal Issue
n.1
Pages
49-56
Date Issued
2007
Date
2007
Author(s)
CHEN, CHIH-PING
LIN, SHUAN-PEI
TZEN, CHIN-YUAN
HWU, WUH-LIANG
CHERN, SCHU-RERN
WANG, WAY-SEEN
Abstract
We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) ( Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus. Level II ultrasound showed cardiomegaly and hepatomegaly. Histological examinations of the fetal vital organs manifested marked mucopolysaccharide deposition . We suggest that any therapeutic approach and counseling for prenatally diagnosed MPS II should consider the early signs of in utero marked mucopolysaccharide storage.
Subjects
Hunter syndrome
mucopolysaccharide deposition
Mucopolysaccharidosis type II
prenatal diagnosis
therapy
Type
journal article