Publications by authors named "Valerie Kantor"
Objective: Twins account for approximately 1 in 30 live births in the United States. However, there are limited clinical experience studies published in noninvasive prenatal testing (NIPT) for detecting aneuploidies in twins. This study reports the performance of an SNP-based NIPT in the largest cohort with known outcomes for high-risk aneuploidy results.
View Article and Find Full Text PDFObjective: An extra haplotype is infrequently encountered in single nucleotide polymorphism(SNP)-based non-invasive prenatal testing (NIPT) and is usually attributed to an undetected twin or triploidy. We reviewed a large series to establish relative frequencies of these outcomes and identify alternative causes.
Methods: In 515,804 women receiving NIPT from September 2017 through March 2019, all results with an extra haplotype were reviewed.
Article Synopsis
- Maternal X chromosome abnormalities can lead to conflicting results between noninvasive prenatal tests and definitive evaluations, potentially causing unnecessary invasive procedures, so early diagnosis is crucial.
- The study sought to validate a noninvasive prenatal test based on single nucleotide polymorphisms to detect maternal-origin X chromosome abnormalities.
- Results showed a high confirmation rate of suspected maternal X chromosome abnormalities in a significant portion of cases, particularly for Turner syndrome and 47,XXX, highlighting the effectiveness of the new noninvasive testing approach.