Fetal DNA in maternal plasma: biology and diagnostic applications
Abstract
BACKGROUND: Molecular analysis of plasma DNA during human pregnancy has led to the discovery that maternal plasma contains both fetal and maternal DNA. This valuable source of fetal DNA opens up new possibilities for noninvasive prenatal diagnosis. APPROACH: Published data from the last 3 years demonstrating the feasibility and utility of analyzing fetal DNA in maternal plasma are reviewed. CONTENT: The detection of fetal DNA in maternal plasma is much simpler and more robust than detecting fetal nucleated cells in maternal blood, and does not require prior enrichment. This approach has been shown to have application in the prenatal diagnosis of fetal rhesus D status, sex-linked disorders, and other paternally inherited genetic disorders. Abnormal fetal DNA concentrations in maternal plasma and serum have been found in common pregnancy-associated disorders, including preterm labor and preeclampsia, as well as in pregnancies complicated by fetal trisomy 21. After delivery, fetal DNA is cleared rapidly from maternal plasma, with a half-life in the order of minutes. These clearance kinetics exhibit an important difference from fetal cell clearance, where long-term persistence has been demonstrated. SUMMARY: It has been only 3 years since fetal DNA was first detected in maternal plasma, and much remains to be learned about the biology of this phenomenon. In addition, additional diagnostic applications beyond those discussed here can be expected in the near future.
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Since the mid-1980s, prenatal treatment with high doses of dexamethasone has been proposed for pregnant women with a fetus at risk for classic CAH using a protocol of 20 μg/kg/day, maximum 1.5 mg/day, aiming to prevent prenatal virilization of the external genitalia in affected girls.
“Since the mid-1980's, prenatal treatment with high doses of Dex has been proposed for to pregnant women with a fetus at risk for classic CAH using a treatment protocol of 20 µg/kg/day, maximum 1.5 mg/day, with the aim of preventing prenatal virilization of the external genitalia in affected girls (313,317,440).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [317]
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
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- Authors
- Lo, Y. M. D.
- Affiliations
- Chinese University of Hong Kong (HK)
- Corresponding author
- Lo, Y M Dennis
- Venue
- Clinical Chemistry
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-12-01
- Volume
- 46
- Issue
- 12
- Pages
- 1903-1906
- ISSN
- 0009-9147 (ISSN-L)
- 1530-8561
- OpenAlex
- W2132158935
- Cited by
- 142
- References
- 43
- Citations by year
- 2026: 1 · 2024: 3 · 2023: 2 · 2022: 5 · 2021: 5 · 2020: 5 · 2019: 5 · 2018: 5 · 2017: 1 · 2016: 5 · 2015: 4 · 2014: 5 · 2013: 8 · 2012: 6
- FWCI
- 9.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- Clinical Chemistry (publishedVersion)
- PubMed (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 › Public Health, Environmental and Occupational Health › Maternal Mental Health During Pregnancy and Postpartum
- Keywords
- fetal DNA, maternal plasma, cell-free fetal DNA, noninvasive prenatal diagnosis, sex-linked disorders, preterm labor, preeclampsia, Down syndrome
- MeSH terms
- DNA, Female, Fetus, Humans, Maternal-Fetal Exchange, Pregnancy, Prenatal Diagnosis, Polymerase Chain Reaction
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