
The study aimed to investigate how fetal anomalies and different X chromosome variants influence cfDNA screening results for monosomy X. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45, X or an X‐chromosome variant. Both 45, X, or X‐chromosome variants can be detected after a high‐risk cfDNA result for monosomy X. When there are fetal anomalies. The outcome is more likely a TP. However, it is often an FP or X‐chromosome variant in the absence of fetal anomalies.
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