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Inability to detect fetal metaphases in flow-sorted lymphocyte cultures based on maternal-fetal HLA differences
A T Tharapel1, V L Jaswaney, M E Dockter
1Department of Pediatrics, University of Tennessee, Memphis.
Fetal Diagnosis and Therapy
|March 1, 1993
Summary
Prenatal diagnosis using fetal cells from maternal blood is challenging. Cytogenetic analysis of flow-sorted cells failed to identify fetal cells, suggesting alternative methods like in situ hybridization are needed.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Cell Biology
Background:
- Non-invasive prenatal diagnosis using fetal cells from maternal blood offers a safer alternative to invasive procedures.
- Fetal cell isolation and characterization are critical for accurate prenatal genetic analysis.
Purpose of the Study:
- To evaluate the feasibility of using cytogenetic analysis of flow-sorted fetal cells from maternal blood for prenatal diagnosis.
- To determine if metaphase analysis of candidate fetal cells, sorted by human leukocyte antigen (HLA) disparity, can reliably identify fetal chromosomes.
Main Methods:
- Blood samples were collected from 78 pregnant women and their partners.
- Candidate fetal cells were isolated using fluorescence-activated cell sorting (FACS) based on parental HLA differences.
- Metaphase analysis was performed on recovered cells from 18 HLA-informative cases.
Main Results:
- Out of 18 informative cases, 15 had fetuses with 46,XY or aneuploid karyotypes.
- A total of 2,483 metaphases were analyzed from these cases.
- All analyzed metaphases were identified as 46,XX, indicating maternal origin and a lack of fetal cell identification.
Conclusions:
- Cytogenetic metaphase analysis of flow-sorted fetal cells from maternal blood is not currently a reliable method for prenatal diagnosis.
- The study suggests a need to shift focus from metaphase analysis to alternative techniques such as in situ hybridization for accurate fetal cell identification.