Very early prenatal diagnosis of genetic diseases based on coelomic fluid analysis: a feasibility study
| Autor: | Pauline Ernault, Jean-Marc Costa, J.-L. Benifla, Jean-Marie Jouannic |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Pathology
medicine.medical_specialty Gestational Age Prenatal diagnosis Polymerase Chain Reaction law.invention Mesoderm Pregnancy law Prenatal Diagnosis Humans Medicine Multiplex Prospective Studies Medical diagnosis Polymerase chain reaction Genetic testing medicine.diagnostic_test business.industry Obstetrics Rehabilitation Genetic Diseases Inborn Genetic disorder Obstetrics and Gynecology DNA medicine.disease Body Fluids Pregnancy Trimester First Reproductive Medicine Mutation Feasibility Studies Gestation Female business |
| Zdroj: | Human Reproduction. 21:2185-2188 |
| ISSN: | 1460-2350 0268-1161 |
| DOI: | 10.1093/humrep/del143 |
| Popis: | BACKGROUND: Coelocentesis may represent the ideal technique for very early prenatal diagnosis. Although cell density in coelomic fluid (CF) is very low, the results of analyses on the cellular compartment have been proposed for prenatal diagnosis. METHODS and RESULTS: We aimed to evaluate the amount of total DNA (i.e. cellular and cell-free) in 14 samples (0.4-0.8 ml) of CF, taken from women at 8- to 9-week gestation, who are about to undergo termination of pregnancy, and to assess the feasibility of multiple single-gene analyses using multiplex real-time PCR. We found that the amount of total DNA in the CF was very low and varied widely. Genetic testing using multiplex real-time PCR was successfully achieved in 10 of 14 samples (71%). However, when considering samples that could provide a reliable prenatal diagnosis (i.e. successful PCR analysis and no marked maternal contamination), reliable CF-DNA-based prenatal diagnoses were obtained in only 8 of the 14 (58%) samples. CONCLUSION: The development of highly reliable procedures adapted to pauci-cellular CF is crucially needed before coelocentesis could be proposed for early prenatal diagnosis of genetic diseases before 10 weeks. |
| Databáze: | OpenAIRE |
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