Isolating Fetal Cells From Maternal Blood: Advances in Prenatal Diagnosis Through Molecular Technology
Abstract
Objectives To review the rationale for and progress toward the goal of isolating and analyzing fetal cells circulating in maternal blood, and to explore the feasibility of this method in providing noninvasive prenatal cytogenetic diagnosis.Data sources Critical review of data published since the first report (1969) of fetal metaphases in maternal blood. Emphasis is placed on data since the demonstration by polymerase chain reaction (PCR) in 1989 and 1990 that fetal cells indeed exist in maternal blood.Data synthesis Clinical evaluations have not yet been conducted, but it is already clear that molecular technologies have allowed the unequivocal demonstration of fetal cells in maternal blood. Using PCR, our own group and others have demonstrated Y sequences and single gene sequences (eg, hemoglobin LeporeBoston) in maternal blood. Thus, fetal DNA sequences indeed exist in maternal blood. Among the various candidate cells, the most promising appear to be fetal nucleated red blood cells. We isolated nucleated red blood cells on the basis of flow-sorting for the transferrin receptor and glycophorin-A. Enriched samples were then subjected to fluorescence in situ hybridization with chromosome-specific probes. This approach allowed us to detect trisomy 21 and trisomy 18, work later confirmed by others.Conclusions Isolating and analyzing fetal cells from maternal blood is clearly possible. Several key biologic questions remain--the optimal cells for isolation, frequency of cells in maternal blood, timing during gestation for maternal blood sampling, and the likelihood of persistence of fetal cells after delivery. Clinical evaluations planned by the National Institute of Child Health and Human Development will determine the sensitivity and specificity of this method and its precise role in prenatal cytogenetic diagnosis.
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Cell-free fetal DNA disappears from the maternal circulation shortly after delivery and therefore does not confound prenatal genetic investigations in subsequent pregnancies.
“Unlike fetal cells, it disappears from the maternal circulation shortly after delivery (319,320) and therefore does not confound prenatal genetic investigations in subsequent pregnancies (321,322).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [319]
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“1996), and it makes possible the use of these cells for noninvasive prenatal diagnosis (Simpson and Elias 1993).”
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“Other methods of identifying fetal gender, such as the detection of fetal cells or fetal DNA in maternal blood, have been previously used for prenatal gender diagnosis (12,13), and cell-free fetal DNA has also been utilised for fetal gender determination (14).”
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“NRBCs are considered a suitable candidate fetal cell type for this purpose as they are mononuclear, abundant in first trimester fetal blood, relatively well differentiated, and have a limited lifespan (Ganshirt-Ahlert et al., 1992; Simpson and Elias, 1993; Zheng et al., 1993; Bianchi et al., 1994).”
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Self-citationEndocervical fetal trophoblast for prenatal genetic diagnosis
Bischoff, F., & Simpson, J. (2006) · Current Opinion in Obstetrics and Gynecology · doi:10.1097/01.gco.0000192985.22718.17 · Cited by 13
Self-citationGeifman-Holtzman, O., Makhlouf, F. N., Kaufman, L., et al. (2000) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2000.106005 · Cited by 13 · see citing works
A simple and sensitive erythroblast scoring system to identify fetal cells in maternal blood
Cha, D., Hogan, B. J., Böhmer, R. M., Bianchi, D. W., & Johnson, K. L. (2003) · Prenatal Diagnosis · doi:10.1002/pd.515 · Cited by 11 · see citing works
“Among the fetal cell types isolated from maternal blood, NRBCs have emerged as the best candidates for noninvasive prenatal diagnosis (Price et al., 1991; Ganshirt-Ahlert et al., 1992; Simpson and Elias, 1993; Zheng et al., 1993; Sohda et al., 1997).”
BackgroundPresence of fetal DNA in maternal plasma decades after pregnancy: further comments
Invernizzi, P., Battezzati, P. M., Podda, M., & Simoni, G. (2002) · Human Genetics · doi:10.1007/s00439-002-0797-0 · Cited by 9 · see citing works
Tilesi, F., Coata, G., Pennacchi, L., et al. (2000) · Journal of Hematotherapy & Stem Cell Research · doi:10.1089/152581600419279 · Cited by 12
Prenatal diagnosis using fetal cells from the maternal circulation.
Lamvu, G., & Kuller, J. A. (1997) · Obstetrical and Gynecological Survey · doi:10.1097/00006254-199707000-00022 · Cited by 12
Is cell-free fetal DNA from maternal blood finally ready for prime time?
Simpson, J. (2012) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e318251e499 · Cited by 11
Self-citation
- Authors
- Simpson, J. L.
- Corresponding author
- Simpson, Joe Leigh
- ORCID
- Simpson, Joe Leigh
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 1993-11-17
- Volume
- 270
- Issue
- 19
- Pages
- 2357
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- OpenAlex
- W7214222967
- Cited by
- 4
- References
- 0
- Citations by year
- 2019: 1 · 2013: 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JAMA (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Obstetrics and Gynecology › Maternal and Perinatal Health Interventions
- Keywords
- fetal cells, maternal blood, cell isolation, cell-free fetal DNA, noninvasive prenatal diagnosis, cell-free DNA
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