title: Embryonic hypocellularity, blastogenetic malformations, and fetal growth restriction.
abstract: An association between congenital malformations and fetal growth restriction (FGR) can be largely explained by a relationship with early embryonic hypocellularity. The malformations include the VACTERL association, which is exceptional as a Mendelian syndrome, but is commonly associated with monozygotic twinning, maternal diabetes, and some forms of aneuploidy, all characterized by a small embryo early in development. Parsimony suggests that these different links to VACTERL are related to the hypocellularity as a single common factor, rather than as an expression of three independent pathogenetic processes. A distinct non-genetic pathogenesis is further supported by increased frequencies in the same conditions of a single umbilical artery (SUA), which is also unusual in Mendelian disorders. SUA often involves the atrophy of one artery, which may be facilitated by altered hemodynamics in a smaller embryo, providing a direct link to hypocellularity. Hypocellularity may also explain a possible connection between VACTERL and certain mitochondrial disorders, where reduced energy might slow early cell division and growth, reducing the size of the embryo. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Washington Blvd Wauwatosa, Wisconsin.
authors.forename: Mark
authors.initials: M
authors.lastname: Lubinsky
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002869:Chromosome Aberrations; D047108:Embryonic Development / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D011247:Pregnancy; D058529:Single Umbilical Artery / Q000175:diagnosis / Q000235:genetics; D064793:Teratogenesis / Q000235:genetics; D013997:Time Factors
keywords: VACTERL association; blastogenesis; diabetic embryopathy; fetal growth restriction; malformations; monozygotic twins; single umbilical artery