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Isolating fetal cells in the maternal circulation

J L Simpson¹, S Elias

¹Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.

Human Reproduction Update

|July 1, 1995

Summary

Prenatal genetic diagnosis can be achieved using fetal cells found in maternal blood. Techniques like polymerase chain reaction (PCR) and fluorescence in-situ hybridization (FISH) detect genetic abnormalities non-invasively.

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Area of Science:

Genetics
Obstetrics
Molecular Biology

Background:

Fetal cells circulate in maternal blood, offering a non-invasive source for prenatal genetic analysis.
Advances in molecular biology and cell sorting have enabled the detection of fetal genetic material within maternal circulation.

Purpose of the Study:

To explore the utility of fetal cells in maternal blood for prenatal genetic diagnosis.
To evaluate the efficacy of various techniques for isolating and analyzing fetal cells for genetic screening.

Main Methods:

Polymerase chain reaction (PCR) for detecting fetal sex, Mendelian disorders, HLA polymorphisms, and Rhesus (D) blood type.
Enrichment of fetal nucleated erythrocytes and trophoblasts using density gradient and flow sorting.
Fluorescence in-situ hybridization (FISH) for detecting chromosomal aneuploidies like trisomy 21 and Klinefelter syndrome.

Main Results:

PCR successfully identified fetal sex, specific gene mutations, and blood group antigens.
FISH enabled the detection of chromosomal abnormalities including trisomy 21, trisomy 18, and sex chromosome aneuploidies (XXY, XYY).
Nucleated erythrocytes proved to be the most successful fetal cell type for analysis.

Conclusions:

Fetal cells in maternal blood are a viable resource for non-invasive prenatal genetic diagnosis.
Current techniques show promise for detecting a range of genetic and chromosomal abnormalities.
Ongoing large-scale clinical evaluations will determine if this technology can replace conventional prenatal diagnostic methods.

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