SOX3 and spina bifida: Two copy gain CNVs encompassing SOX3 were found in 2015 and 2017 in our cohort in two fetuses: one duplication in a male fetus presenting with spina bifida (arr [hg19] Xq27.1(139103383_139801281)x2) and a duplication-triplication in a male fetus with acrania (arr [hg19] Xq27.1(139103383-139763381)x2~3).