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Prenatal diagnosis of cystinosis utilizing chorionic villus sampling
Author(s) -
Smith M. L.,
Pellett O. L.,
Cass M. M. J.,
Kennaway N. G.,
Buist N. R. M.,
Buckmaster J.,
Golbus M.,
Spear G. S.,
Schneider J. A.
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.1970070105
Subject(s) - cystinosis , chorionic villus sampling , prenatal diagnosis , chorionic villi , in utero , amniotic fluid , medicine , gestational age , obstetrics , fetus , cystine , andrology , pregnancy , biology , biochemistry , genetics , enzyme , cysteine
The prenatal diagnosis of cystinosis is currently based on the increased amount of free‐cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10‐week abortus.