Nancy B.Y. Tsui

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: Plasma RNA is stable in uncentrifuged EDTA blood stored at 4 degrees C, but to obtain a stable serum RNA concentration, uncent rfuged clotted blood should be stored at4 degrees C and processed within 6 h.

TL;DR: This work achieved noninvasive prenatal diagnosis of fetal trisomy 21 by determining the ratio between alleles of a single-nucleotide polymorphism (SNP) in PLAC4 mRNA, which is transcribed from chromosome 21 and expressed by the placenta, in maternal plasma.

TL;DR: A noninvasive test to diagnose whether the fetus has inherited a causative mutation for hemophilia from its mother is developed, based on a relative mutation dosage approach, that would make the decision to undertake prenatal testing less traumatic and safer for at-risk families.