Table 1.

Examples of individual search terms searched in PubMed on title and abstract. See Supplementary File 1 for list of all 251 search strings

Root word	Additional term(s)
Birth	anomal*, defect*, risk*
Chromosom*	abnormal*, anomal*, defect*, disorder*, mutation*, syndrome*
Congenital	abnormal*, anomal*, defect*, deform*, disease*, disorder*, malform*, syndrom*
Complex	abnormal*, anomal*, defect*, deform*, disease*, disorder*, malform*, mutation*, risk*, syndrom*
Endogenous	risk*
Environment*	risk*
Fetal/foetal	anomal*, abnormal*, defect*, disease*, disorder*, malform*, risk*, syndrome*,
Genetic	abnormal*, anomal*, defect*, disease*, disorder*, malform*, mutation*, predispos*, risk*, syndrom*
Hereditary	disease*, disorder*, mutation*, predispos*, risk*, syndrome*
Inherited	abnormal*, defect*, disease*, disorder*, mutation*, predispose*, risk*, syndrome*, genetic disease*, genetic disorder*, genetic dysmorph*, genetic mutation*, genetic predispos*
Monogenic	Defect*, disease*, disorder*, mutation*, syndrome*
Multifactorial	disease*, disorder*, risk*, syndrome*
Polygenic	disease*, disorder*, risk*
Single gene/single-gene	defects*, disorders*
MeSH terms	“Congenital Abnormalities”[Mesh] OR “Genetic Diseases, Inborn”[Mesh]