DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis.
OBJECTIVE
To develop a reliable method to isolate fetal cells for genetic diagnosis.


METHODS
Aspiration of cervical mucus from pregnant women in the first trimester.


METHODS
Pregnant women were recruited before an elective termination of pregnancy.


METHODS
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.


METHODS
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.
Katz-Jaffe
Mandy G
MG
Monash Institute of Reproduction and Development, Monash University and Monash IVF, Melbourne, Australia.
Mantzaris
Debbie
D
Cram
David S
DS
D002582:Cervix Mucus / Q000166:cytology*; D025063:Chromosome Disorders / Q000175:diagnosis; D020732:Cytogenetic Analysis / Q000379:methods; D004247:DNA / Q000032:analysis; D016172:DNA Fingerprinting / Q000379:methods; D005260:Female; D005333:Fetus / Q000166:cytology*; D005455:Fluorescent Antibody Technique; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D014327:Trophoblasts / Q000166:cytology*
D004247:DNA