In a prospective study involving 1,090 high-risk pregnancies, a comprehensive screening test of fetal cell-free DNA successfully detected pathogenic aneuploidies, microdeletions and monogenic variants linked to fetal anomalies. The inclusion of monogenic conditions alongside chromosomal abnormalities in this test resulted in a 60.7% increase in the detection rate for suspected fetal structural abnormalities.
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References
Chiu, R. W. et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl Acad. Sci. USA 105, 20458–20463 (2008). This paper reports the development of prenatal cfDNA screening for Down syndrome.
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This is a summary of: Zhang, J. et al. Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies. Nat. Med. https://doi.org/10.1038/s41591-023-02774-x (2024).
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Detection of chromosomal abnormalities and monogenic variants in fetal cfDNA for prenatal diagnosis. Nat Med 30, 352–353 (2024). https://doi.org/10.1038/s41591-024-02811-3
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DOI: https://doi.org/10.1038/s41591-024-02811-3
