Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies

J Matern Fetal Neonatal Med. 2013 Mar;26(4):434-7. doi: 10.3109/14767058.2012.733768. Epub 2012 Oct 29.


Non-invasive prenatal screening for fetal Down syndrome (NIFTY) by maternal plasma sequencing was performed in 12 subjects with twin pregnancies, including 11 with normal fetuses and 1 with discordant fetal Trisomy 21. For every sample, it was processed, sequenced and reported as soon as it was collected as other clinical samples for singleton pregnancies. The NIFTY test was negative in the 11 pregnancies carried normal fetuses, and was positive (high risk) in the case with discordant fetal Trisomy 21. The sensitivity and specificity were both 100%. This small case series suggested the NIFTY as a screening test for fetal Trisomy 21 is feasible in twin pregnancies.

MeSH terms

  • Adult
  • Biomarkers / analysis
  • Chorionic Villi Sampling
  • DNA / blood*
  • Diseases in Twins / diagnosis*
  • Diseases in Twins / genetics
  • Down Syndrome / diagnosis*
  • Down Syndrome / genetics
  • False Positive Reactions
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Humans
  • Karyotyping
  • Maternal Age
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy, Twin*
  • Prenatal Diagnosis / methods*
  • Sequence Analysis, DNA


  • Biomarkers
  • DNA