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- Title
The Genetics Corner: The Positive Predictive Value of NIPT for 22q11 Deletion Syndrome Varies with the Indication.
- Authors
Rajakumar, Nivedita; Ramanathan, Subhadra; Clark, Robin D.
- Abstract
The article presents two case study related to 31-year-old G4 P1 female was referred for prenatal genetic counseling at 28 w 3 d gestation for a fetal cardiac anomaly and 12-month old female was referred to clinical genetics for confirmatory testing as cell-free fetal (cff) DNA screening testing during pregnancy was positive for 22q11.2 deletion syndrome. Topics include the mother chose to have a DNA cff non-invasive prenatal test that included screening for microdeletion syndromes.
- Subjects
GENETICS; 22Q11 deletion syndrome; DNA copy number variations; CHROMOSOME analysis; CHROMOSOME abnormalities; MEDICAL genetics; ECHOCARDIOGRAPHY; PREDICTIVE tests; PRENATAL diagnosis; GENETIC testing; GENETIC counseling; APGAR score
- Publication
Neonatology Today, 2021, Vol 16, Issue 3, p124
- ISSN
1932-7129
- Publication type
Case Study
- DOI
10.51362/neonatology.today/20213163124126