Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

@inproceedings{Gross2016ClinicalEW,
  title={Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome},
  author={Susan J. Gross and Melissa Stosic and D. M. McDonald‐McGinn and Anne S Bassett and A. Norvez and Rita Dhamankar and Katie Kobara and Eser Kirkizlar and Benedikt Zimmermann and Nicholas Wayham and Joshua Babiarz and Andy Ryan and Kristine N. Jinnett and Zach Demko and Peter Benn},
  booktitle={Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology},
  year={2016}
}
OBJECTIVES To evaluate the performance of a single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow-up and review patient choices for women with high-risk results. METHODS In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP-based NIPT and subsequently evaluated. Follow-up was conducted for all cases with a high-risk result… CONTINUE READING