Prenatal Chromosomal Microarray Analysis and Identification of Genetic Variants in Congenital Diaphragmatic Hernia. KU Leuven
Chromosomal microarray analysis has gradually replaced conventional karyotyping over recent years in the postnatal setting which has revolutionized whole genomescreening for genomic imbalances in patients. We sought to evaluate the benefits and the challenges of applying chromosomal microarrays to prenatal diagnosis for referrals with abnormal ultrasound findings. Our findings, presented in Chapter 3, demonstrate a diagnostic yieldof ~10%. ...