Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome).
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.
Chen
C P
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
Lin
S P
SP
Tzen
C Y
CY
Hwu
W L
WL
Chern
S R
SR
Chuang
C K
CK
Chiang
S S
SS
Wang
W
W
D037881:Aborted Fetus / Q000473:pathology; D000028:Abortion, Induced; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D006023:Glycoproteins / Q000235:genetics; D006025:Glycosaminoglycans / Q000032:analysis; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology; D020125:Mutation, Missense; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
D006023:Glycoproteins; D006025:Glycosaminoglycans; C018322:IDS protein, human