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Detection of chromosomal abnormalities and monogenic variants in fetal cfDNA for prenatal diagnosis

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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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Fig. 1: Detection of pathogenic variants by comprehensive cfDNA screening in pregnancies with fetal structural abnormalities.

References

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Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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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