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Hum. Reprod. Advance Access published online on June 12, 2006
Human Reproduction, 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
Received March 1, 2006
Accepted April 4, 2006

Article

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

Jean-Marie Jouannic 1 *, Jean-Marc Costa 2, Pauline Ernault 2, and Jean-Louis Bénifla 1

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

* To whom correspondence should be addressed.
Jean-Marie Jouannic, E-mail: jean-marie.jouannic{at}rth.aphp.fr


  Abstract

BACKGROUND: Coelocentesis may represent the ideal technique for very early prenatal diagnosis. Although cell density in coelomic fluid (CF) is very low, only techniques performed on this 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.

Keywords: coelocentesis/first trimester/PCR/prenatal diagnosis.
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