Prenatal cell‐free DNA screening is widely used to assess the risk of fetal trisomy 21, 18, and 13. Although commercial and laboratory‐developed tests (LDTs) show high accuracy in validation studies, real‐world longitudinal performance data are lacking.
Armelle Duquenne, N. Brison, I. Parijs et al.· Prenatal Diagnosis· 0 citations
Abstract Background 22q11.2 deletion syndrome (22q11DS) is strongly associated with aberrant neurodevelopment, including decreased cognitive functioning and schizophrenia spectrum disorders (SSDs). While the different core domains of IQ have distinct clinical ramifications, their collective profile has not been well-ch...
A. Fiksinski, Rielle Wierenga, D. McDonald-McGinn et al.· Psychological Medicine· 0 citations
Pregnancy complications contribute substantially to maternal and fetal morbidity and mortality. If complications are suspected early in pregnancy, individuals could be triaged to escalate care and ideally reduce adverse outcomes. However, clinical risk factors are poor predictors early in gestation. Cell-free DNA (cfDN...
Kate E. Stanley, L. Lannoo, E. Souche et al.· Science Translational Medici...· 1 citation
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