Jouannic Jean-Marie, Costa Jean-Marc, Ernault Pauline, Bénifla Jean-Louis
Service de Gynécologie-Obstétrique, Hôpital Rothschild, AP-HP, Paris Université VI, Paris Cedex 12, France.
Hum Reprod. 2006 Aug;21(8):2185-8. doi: 10.1093/humrep/del143. Epub 2006 Jun 12.
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.
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.
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.
体腔穿刺术可能是极早期产前诊断的理想技术。尽管体腔液（CF）中的细胞密度非常低，但已有人提出对细胞成分的分析结果可用于产前诊断。
我们旨在评估从妊娠8至9周、即将接受终止妊娠的女性中采集的14份（0.4 - 0.8毫升）CF样本中的总DNA（即细胞内和游离细胞的DNA）含量，并评估使用多重实时PCR进行多个单基因分析的可行性。我们发现CF中的总DNA含量非常低且差异很大。14份样本中有10份（71%）成功通过多重实时PCR进行了基因检测。然而，当考虑能够提供可靠产前诊断的样本（即PCR分析成功且无明显母体污染）时，14份样本中只有8份（58%）获得了基于CF - DNA的可靠产前诊断。
在提出将体腔穿刺术用于10周前遗传性疾病的早期产前诊断之前，迫切需要开发适用于少细胞CF的高度可靠的方法。
