Fig. 6: Clinical validation for multiple types of genetic disorders using pregnant women’s plasma samples. | Cell Discovery

Fig. 6: Clinical validation for multiple types of genetic disorders using pregnant women’s plasma samples.

From: Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening

Fig. 6

A total of 1149 samples collected from pregnant women’s blood were tested. Among them, 20 samples were excluded due to analytical interferences including 13 dizygotic twin pregnancies, one twin pregnancy through egg donor, four with maternal CNV (≥3 Mb), and two with maternal AOH which also failed RD analysis quality control. Next, 1129 samples were subjected to further analysis, and 70 positive cases were identified through the new NIPS method, including 54 aneuploidies, eight MMS and eight cases with monogenic disorders. Clinical information and prenatal findings were collected and shown for 70 positive cases.

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