Fiona M.F. Lun

TL;DR: Massively parallel plasma DNA sequencing represents a new approach that is potentially applicable to all pregnancies for the noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.

TL;DR: This study shows that sequencing of maternal plasma DNA provides a way for noninvasive prenatal genome- wide scanning for genetic disorders and suggests the feasibility of using genome-wide scanning to diagnose fetal genetic disorders prenatally in a noninvasively way.

TL;DR: Multiplexed maternal plasma DNA sequencing analysis could be used to rule out fetal trisomy 21 among high risk pregnancies and if referrals for amniocentesis or chorionic villus sampling were based on the sequencing test results, about 98% of the invasive diagnostic procedures could be avoided.

TL;DR: This work demonstrates the use of digital PCR to determine the allelic imbalance of a SNP on PLAC4 mRNA, a placenta-expressed transcript on chromosome 21, in the maternal plasma of women bearing trisomy 21 fetuses, and developed a nonpolymorphism-based method for the noninvasive prenatal detection of trisome 21.

TL;DR: Microfluidics digital PCR represents an improvement over previous methods for quantifying fetal DNA in maternal plasma, enabling diagnostic and research applications requiring precise quantification, and may also impact other diagnostic applications of plasma nucleic acids.