Embryonic hypocellularity, blastogenetic malformations, and fetal growth restriction.
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.
['Lubinsky|Mark|M|']
D000015:Abnormalities, Multiple D002869:Chromosome Aberrations D047108:Embryonic Development D005260:Female D005317:Fetal Growth Retardation D056726:Genetic Association Studies D006801:Humans D011247:Pregnancy D058529:Single Umbilical Artery D064793:Teratogenesis D013997:Time Factors
malformations fetal growth restriction VACTERL association monozygotic twins single umbilical artery blastogenesis diabetic embryopathy