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First trimester diagnosis of cystinosis using intact chorionic villi
Author(s) -
Patrick A. D.,
Young E. P.,
Mossman J.,
Warren R.,
Kearney L.,
Rodeck C. H.
Publication year - 1987
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970070202
Subject(s) - chorionic villi , cystinosis , first trimester , biopsy , prenatal diagnosis , pregnancy , medicine , fetus , cytotrophoblast , chorionic villus sampling , cystine , obstetrics , pathology , andrology , gynecology , biology , placenta , biochemistry , genetics , enzyme , cysteine
Cystinosis was diagnosed in the first trimester of pregnancy by studies of uptake and retention of [ 35 S]‐cystine by intact biopsy samples of chorionic villi. The diagnosis was confirmed by similar studies on cell cultures of villi and fetal skin fibroblasts.