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Hum. Reprod. Advance Access originally published online on June 12, 2006
Human Reproduction 2006 21(8):2185-2188; doi:10.1093/humrep/del143
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Very early prenatal diagnosis of genetic diseases based on coelomic fluid analysis: a feasibility study

Jean-Marie Jouannic1,3, Jean-Marc Costa2, Pauline Ernault2 and Jean-Louis Bénifla1

1 Service de Gynécologie-Obstétrique, Hôpital Rothschild, AP-HP, Paris Université VI, Paris Cedex 12 and 2 Centre de Diagnostic Prénatal, American Hospital of Paris, Neuilly, France

3 To whom correspondence should be addressed at: Service de Gynécologie–Obstétrique, Hôpital Rothschild, 33, bd de Picpus, 75571 Paris Cedex 12, France. E-mail: jean-marie.jouannic{at}rth.aphp.fr

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.

Key words: coelocentesis/first trimester/PCR/prenatal diagnosis


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