Open AccessThe use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis
Author(s) -
Butler Merlin G.,
Dev Vaithilingam G.,
Shah Dinesh,
Ulm Janet E.,
Wilmot Patrick L.,
Shapiro Lawrence R.,
Opitz John M.,
Reynolds James F.
Publication year - 1988
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.1320310407
Subject(s) - amniocentesis , prenatal diagnosis , medicine , obstetrics , chorionic villus sampling , fetus , pregnancy , genetics , biology
Early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal diagnosis were undertaken for the first time in a 17‐week gestation fetus at risk for the fragile X [fra (X)] syndrome. Metaphase spreads from 300 fetal lymphocytes were examined within 5 days following PUBS, while approximately 5 weeks were required for the analysis of 148 amniocytes. The chromosomes were interpreted as normal (46,XX) and the fetus as fragile X‐negative at the time of prenatal diagnosis. This was cytogenetically confirmed after delivery of a healthy term female infant. Our results suggest that early PUBS may become a useful adjunct to amniocentesis because of shorter culture time and earlier diagnosis.