Objectives To develop a reliable method to isolate fetal cells for genetic diagnosis.Design Aspiration of cervical mucus from pregnant women in the first trimester.Setting Pregnant women were recruited before an elective termination of pregnancy.Population Sixty pregnant women (7 -10 weeks of gestation).Methods Fetal cells were isolated from aspirated cervical mucus of pregnant women using a combination of enzymatic digestion, fluorescent immunohistochemistry, micromanipulation and single-cell DNA allelic profiling. Main outcome measures The isolation and identification of fetal cells.Results The transformation of the tenacious cervical mucus into a single-cell suspension enabled the isolation and identification of fetal cells by fluorescent immunohistochemistry. Confirmation of fetal origin was accomplished by single-cell DNA allelic profiling alongside known maternal cells. Conclusions This novel non-invasive method is rapid and efficient with results attainable within 24 hours as early as seven weeks of gestation. The technique would offer earlier reassurance and the option of first trimester therapeutic abortions to both high and low risk pregnant women.

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The aim of this study was to determine the accuracy of sexing fetal cells isolated from cervical mucus. Immunopositive cells identified using a fetal-specific antibody were isolated and subjected to genetic analysis. Fetal sex was predicted in all 22 samples, as confirmed by analysis of the corresponding placental tissue. This study validates the accuracy of our test for sex diagnosis and confirms the ability to effectively recover and analyse fetal cells from the cervical mucus during early pregnancy.

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