Premium
Experience with first trimester prenatal diagnosis of Menkes disease
Author(s) -
Tønnesen T.,
Horn N.,
Søndergaard F.,
Jensen O. A.,
Gerdes A.M.,
Girard S.,
Damsgaard E.
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.1970070706
Subject(s) - chorionic villi , menkes disease , fetus , abortion , prenatal diagnosis , copper , obstetrics , pregnancy , first trimester , chorionic villus sampling , gynecology , biology , medicine , chemistry , copper metabolism , genetics , organic chemistry
Abstract We have performed 28 first trimester diagnoses for Menkes disease in 27 high risk pregnancies by direct copper measurement on chorionic villi (c.v.) Two male fetuses were found to be affected because of significantly increased copper content. In one male fetus a slightly increased copper content was observed indicating an exogenous copper contamination of the sample. This view was supported by normal results observed after abortion. Three out of 15 diagnostic c.v. samples with a female karyotype showed increased copper levels. In two of these cases, part of the copper content might have been released from the cannulae used for these particular biopsies. Histochemical visualization of copper accumulation in fixed chorionic villi of two affected fetuses and one female fetus was observed. [ 64 Cu]‐uptake studies have been performed on 11 diagnostic and 10 control c.v. samples. As the control samples in some cases were found to incorporate more [ 64 Cu] than the corresponding diagnostic sample, this method cannot at present be used for diagnosis. Compiled results on newborn females gave evidence that two carriers expressed the paternal X‐chromosome, and two carriers expressed the maternal X‐chromosome in chorionic villi.