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Published on: October 20, 2019
Noninvasive fetal RhCE genotyping from maternal blood
O Geifman-Holtzman1, C A Grotegut, J P Gaughan
1Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, Temple University School of Medicine, and Department of Obstetrics & Gynecology, Temple University Hospital, Philadelphia, PA 19140, USA. drgeifman@aol.com
Noninvasive prenatal testing accurately determines fetal RhCE genotype from maternal blood. Free fetal DNA in maternal plasma offers 100% accuracy for RhC/c and RhE/e genotyping, surpassing fetal cell analysis.
Area of Science:
- Maternal-fetal medicine
- Genetics
- Immunology
Background:
- Alloimmunisation due to red blood cell antigens beyond RhD, such as RhC/c and RhE/e, is a concern.
- Prenatal diagnosis of fetal Rh genotype from maternal blood is established in Europe but not widely in the USA.
Purpose of the Study:
- To assess the diagnostic accuracy of fetal RhCE genotyping using maternal peripheral blood.
- To compare genotyping accuracy using fetal cells versus free fetal DNA (FfDNA).
Main Methods:
- Systematic literature review of English-written studies (1966-2007) on fetal RhCE determination from maternal blood.
- Included studies reporting fetal RhCE genotyping using maternal peripheral blood, excluding abstracts.
- Calculated composite accuracy estimates using a weighted random effects model and assessed study quality using STARD checklist.
Main Results:
- Analyzed 20 protocols from six publications involving 369 samples for fetal RhC/c and RhE/e genotyping.
- Achieved a combined accuracy of 96.3% for RhC/c and 98.2% for RhE/e.
- Free fetal DNA (FfDNA) in maternal plasma yielded 100% accuracy for both RhC/c and RhE/e genotyping, outperforming fetal cell analysis.
Conclusions:
- Noninvasive fetal RhC/c and RhE/e determination from maternal blood shows high accuracy (96.3% and 98.2%).
- Maternal plasma FfDNA is a superior source for RhCE genotyping, achieving 100% accuracy.
- Further studies and laboratory reports are needed to validate these findings for clinical replacement of current methods.
