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Noninvasive prenatal testing (NIPT) allows for highly sensitive detection of Down syndrome early in pregnancy with no risk of miscarriage, therefore potentially increasing the number of pregnancies identified with Down syndrome. This study assesses how mothers of children with Down syndrome perceive NIPT, especially the impact they think it will have on(More)
Keynote address: " Clinical Implications of 2-day whole genome sequencing of acutely ill infants " Prof. Comparative Genomic Hybridisation (CGH) Microarray has been available in Ireland to Paediatricians from the year 2011. Guidelines for investigation of infants and children with features of developmental delay, dysmorphic features and some cases of(More)
Keynote address: " Marfan syndrome and related disorders: from gene to therapy " Prof. 3 AED Pregnancy register, UK and Ireland Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The risk magnitude varies by AED exposure. We provide results from the UK and Ireland Epilepsy and Pregnancy Registers,(More)
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