Min Pan, Fa Tao Li, Yan Li, Fu Man Jiang, Dong Zhi Li, Tze Kin Lau and Can Liao Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue Prenatal Diagnosis 33
What's already known about this topic?
- The non-invasive prenatal testing (NIPT) by maternal plasma sequencing has been proven to be a safe and highly efficient screening method for fetal aneuploidy. Some studies suggested that these cell-free DNAs are from the placenta. Therefore, an abnormal NIPT result could be due to confined placental mosaicism.
What does this study add?
- We reported here a case of UPD with confined placental mosaicism, which resulted in discordant results between fetal karyotyping and NIPT.
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