Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.
Pauline C SchutErwin BrosensTom J M Van DoorenFrietson GalisClara M A Ten BroekInge M M BaijensMarjolein H G DremmenDick TibboelMartin P ScholAnnelies de KleinAlex J EgginkTitia E Cohen-OverbeekPublished in: Birth defects research (2020)
The large variety of copy number variants in deceased fetuses and neonates with similar abnormalities of the vertebral pattern probably reflects the etiological heterogeneity of vertebral patterning abnormalities. This genetic heterogeneity corresponds with the hypothesis that cervical ribs can be regarded as a sign of disruption of critical, highly interactive stages of embryogenesis. The vertebral pattern can probably provide valuable information regarding fetal and neonatal outcome.