Katie Kobara

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Methods FF distributions for chromosomally normal cases were modeled based on approximately 165, 000 presumed normal pregnancies referred for NIPT. Distributions for abnormal cases were estimated from 496 samples (T18, 343; T13, 144; 3n, 9). FF-based data likelihoods were computed by comparing the observed FF against the various model distributions. The(More)
Single-nucleotide polymorphism (SNP)-based noninvasive prenatal testing (NIPT) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations. We retrospectively analyzed the performance of SNP-based NIPT in 80,449 referrals for 22q11.2 deletion syndrome and 42,326 referrals for 1p36, cri-du-chat, Prader-Willi,(More)
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