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SAT-068 Bewilderment! Sex Chromosome Non-Invasive Prenatal Screening (NIPS) Results Differ from Phenotype and Postnatal Karyotype

Background NIPS uses cell-free DNA in maternal serum to identify fetal aneuploidies including sex chromosome aneuploidies (SCA).(1) Despite reports of high sensitivity and specificity, NIPS results, phenotype, and postnatal karyotype may be inconsistent. This situation generates parental anxiety and...

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Detalles Bibliográficos
Autores principales: Perez-Garcia, Eliana Melissa, Shahid, Nabiha, Yatsenko, Svetlana, Schneck, Francis Xavier, Witchel, Selma Feldman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209311/
http://dx.doi.org/10.1210/jendso/bvaa046.938