Malformations attributed to the process of vascular disruption

Abstract

Malformations attributed to the process of vascular disruption were a distinctive entity, among the recognized etiologies. The timing of the causative event in the first trimester was established for infants with exposures to either the prostaglandin misoprostol or the prenatal diagnosis procedure chorionic villus sampling. One challenge is to identify the developmental steps in vascular disruption when no causative exposure can be identified.

Causes of Congenital Malformations

“… Infants described in a separate article on vascular disruption in this series of articles: Holmes et al, .…”

“…and A.E.L.). The methodology and the demographic characteristics of the population surveyed by the Active Malformations Surveillance Program at the Boston Lying‐In Hospital, later part of the BWH in Boston, have been summarized in another article in this special issue (Holmes et al, ).…”

“…In the process of vascular disruption, the hypothesis is that blood flow to a region is decreased, followed by hypoxia, endothelial cell injury, hemorrhage, tissue loss, and repair. This group of affected infants has been presented in detail in a separate article (Holmes et al, ).…”

Terminal transverse limb defects with “nubbins”

“…There are several methods for malformations surveillance: (a) a study pediatrician examines each infant in a cohort study (Holmes et al, 2001); (b) a non‐physician, trained Research Assistant reads the medical record of each newborn infant to identify the descriptions of each structural abnormality identified by the pediatrician, consultant, or a pathologist (Holmes, 2012; Holmes, Westgate, Nasri, & Toufaily, 2018); (c) tabulating the malformations indicated by the ICD‐9 or ICD‐10 codes assigned for each newborn infant surveyed (Cooper et al, 2006); (d) local healthcare staff providing written descriptions of visible structural anomalies on physical examination, including photographs of the abnormalities (Li et al, 2003). The hospital‐based surveillance program used in this study (#2 in the list above) had several advantages.…”

Vascular anomalies of the upper limb

“…Teratogens such as thalidomide can cause vessel failure and are linked with causation of limb differences through vascular loss (Therapontos et al., 2009; Vargesson, 2015). Other processes, such as thrombi from the maternal placenta as well as constriction bands, have also been linked to the causation of limb differences (Holmes et al., 2018).…”