Prenatal diagnosis of haemoglobin disorders by cordocentesis at 12 weeks' gestation
| Autor: | P. Sammarco, Aurelio Maggio, M. Musicò, F. Di Trapani, Salvatrice A. Lauricella, F. Orlandi, E. D’Alcamo, S. D'Agostino, Bernadette Modell, I. Abate, M. Marino |
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| Rok vydání: | 1991 |
| Předmět: |
medicine.medical_specialty
Genotype Chorionic villus sampling Prenatal diagnosis Polymerase Chain Reaction Pregnancy Prenatal Diagnosis medicine Humans Sampling (medicine) Pcr analysis Genetics (clinical) Fetus medicine.diagnostic_test Obstetrics business.industry Obstetrics and Gynecology Beta thalassemia Reproducibility of Results Hemoglobin A medicine.disease Fetal Blood Pregnancy Trimester First Hemoglobinopathy Gestation Thalassemia Female business Polymorphism Restriction Fragment Length Follow-Up Studies |
| Zdroj: | Prenatal diagnosis. 11(12) |
| ISSN: | 0197-3851 |
| Popis: | Prenatal diagnosis of haemoglobin disorders is accepted to be a useful procedure to avoid births of infants with homozygous diseases. Advances in sampling and molecular techniques, such as polymerase chain reaction (PCR) and chorionic villus sampling (CVS), have made earlier and safer first-trimester prenatal diagnosis possible. However, these procedures need previous studies of at-risk couples, which can be very time-consuming when a number of different beta-thalassaemia mutations occur in the region. We describe the possibility of making a first-trimester prenatal diagnosis by cordocentesis and fetal blood analysis at the 12th week of gestation. We found no statistically significant difference (p greater than 0.05) between beta/gamma values in fetuses at the 12th and 18th weeks of gestation. In seven affected fetuses aborted at the 12th week of gestation, the diagnosis was confirmed in all cases by PCR analysis. These findings suggest that early cordocentesis could be an alternative procedure to CVS and PCR analysis. |
| Databáze: | OpenAIRE |
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