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

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

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

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

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