title: Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome).
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.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: C Y
authors.initials: CY
authors.lastname: Tzen
authors.forename: W L
authors.initials: WL
authors.lastname: Hwu
authors.forename: S R
authors.initials: SR
authors.lastname: Chern
authors.forename: C K
authors.initials: CK
authors.lastname: Chuang
authors.forename: S S
authors.initials: SS
authors.lastname: Chiang
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: 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
chemical_list: D006023:Glycoproteins; D006025:Glycosaminoglycans; C018322:IDS protein, human