Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
GV Blayney, E Laffan, PA Jacob, CD Baptiste… - Prenatal …, 2024 - Wiley Online Library
Objectives Determine the incremental diagnostic yield of prenatal exome sequencing (pES)
over chromosome microarray (CMA) or G‐banding karyotype in fetuses with central nervous …
over chromosome microarray (CMA) or G‐banding karyotype in fetuses with central nervous …
Agenesis of the corpus callosum: What to tell expecting parents?
Agenesis of the corpus callosum (ACC) is one of the most common brain malformations, with
an incidence estimated to range from 0.5 to 70 in 10,000 among the general population …
an incidence estimated to range from 0.5 to 70 in 10,000 among the general population …
Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses
H Yu, J Li, Q Yang, B Yang, Y Li, Y Ren, X Han… - Archives of Gynecology …, 2024 - Springer
Purpose The identification and prognosis of the agenesis of the corpus callosum (ACC) for
prenatal consultation are complex and currently unclear. This study aims to explore the …
prenatal consultation are complex and currently unclear. This study aims to explore the …
Prenatal Diagnosis of Primrose Syndrome
W Abdallah, E Spaggiari, S Brisset… - … of Ultrasound in …, 2024 - Wiley Online Library
Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may
appear during childhood, but the diagnosis is identified in adulthood in the majority of cases …
appear during childhood, but the diagnosis is identified in adulthood in the majority of cases …