DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis.

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.