A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: experience at one clinical laboratory.

Aneuploidy screening options are currently limited for multifetal pregnancies, but a recent study has shown that cfDNA for common trisomies, such as trisomy 21, meets or exceeds performance of singleton pregnancy screening.1

The new study details our extensive clinical laboratory experience with MaterniT21 PLUS screening in twins, triplets and higher order multiples.

Cohort included over 30,000 multifetal samples of which over 700 were triplets; the largest report to date of cfDNA screening in twin and triplet pregnancies

925e7bb14815fff4fbe292a9fdb22da1

Since 2011, we have screened over 1 million pregnancies with MaterniT 21 PLUS, including over 30,000 multifetal pregnancies

Nonreportable rate dropped to 2.66% in the final year of the study and turnaround time was less than five days due to assay enhancements

Positivity rates for trisomy 21, trisomy 18, and trisomy 13 in multifetal pregnancies were similar to those seen in singleton pregnancies2

  1. Dyr B, Boomer T, Almasri EA, et al. A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: Experience at one clinical laboratory.PLoS ONE. 2019;14(8):e0220979. doi:10.1371/journal.pone.0220979

  2. Chibuk J, Khanna A, Almasri E, et al. Over a half million noninvasive prenatal tests: A clinical laboratory experience (ISPD). Poster presented at: 22nd International Conference on Prenatal Diagnosis and Therapy (ISPD); July 8-11, 2018; Antwerp, Belgium.