The use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis
| Autor: | Merlin G. Butler, Vaithilingam G. Dev, Dinesh Shah, Janet E. Ulm, Patrick L. Wilmot, Lawrence R. Shapiro, John M. Opitz, James F. Reynolds |
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| Rok vydání: | 1988 |
| Předmět: |
medicine.medical_specialty
Amniotic fluid Percutaneous Umbilical Blood Sampling Prenatal diagnosis Article Pregnancy Prenatal Diagnosis Medicine Humans Lymphocytes Genetics (clinical) Sex Chromosome Aberrations Fetus medicine.diagnostic_test business.industry Obstetrics Infant Newborn medicine.disease Amniotic Fluid Fetal Blood Fragile X syndrome Fetal Diseases Fragile X Syndrome Pregnancy Trimester Second Amniocentesis Gestation Female business |
| Zdroj: | American journal of medical genetics. 31(4) |
| ISSN: | 0148-7299 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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