Table 2.

Range of terms and definitions identified in articles resulting from the three key search terms (birth defect*, congenital disorder* and congenital anomal*)^

Search term	Authors	Terms used in articles	Definitions
Birth defect(s)	Bendixen et al. (2021)	Birth defect, congenital anomaly, monogenic/monogenic syndromes, defect, malformation, structural anomaly	Undefined
	Uguz (2020)	Congenital anomalies, birth defect(s), congenital malformation, minor/major congenital anomalies, congenital heart defects (CHD), congenital abnormalities	Undefined
	Reefhuis et al. (2015)	Birth defect, chromosomal disorders and monogenic disorders	Undefined Undefined
	Donner et al. (2010)	Birth defect, congenital abnormalities	Undefined
	Ladd (2016)	Congenital abnormalities, CHD, congenital cardiac defects, morphogenetic defect	Undefined
	Marbán-Castro et al (2021)	Congenital infection, congenital syndrome, congenital malformations, anomalies, abnormalities, foetal and child defects, birth anomaly Congenital Zika syndrome (CZS), (Zika-associated birth defect, congenital zika syndrome/infection	Undefined “A pattern of structural anomalies and functional disabilities secondary to central nervous system damage… whose most common clinical feature is microcephaly” “A spectrum of birth defects including foetal brain disruption sequence, brain anomalies, ocular anomalies, congenital contractures, intrauterine growth restriction, seizures, pyramidal or extrapyramidal abnormalities and neurodevelopmental delay”
	Brennan and Rayburn (2012)	Birth defects, congenital anomalies, congenital malformations, CHD	Undefined
	Williams and Chakravarty (2014)	Congenital anomalies, birth defects, congenital malformations, teratogenic exposure	“Congenital malformations or birth defects are alterations of morphogenesis of organs or body districts identifiable at birth” “A teratogenic exposure is one that has the potential to interfere with the normal functional or structural development of an embryo or fetus”
	Neal et al. (2009)	Congenital abnormalities, congenital defects	Undefined
	Munoz-Jordan (2017)	Birth defects, congenital abnormalities, Zika virus infections	Undefined
Congenital disorder(s)	van der Bom et al. (2011)	Congenital disorder Congenital malformation Congenital heart disease/defect (CHD)	Undefined Undefined “A gross structural abnormality of the heart or intrathoracic great vessels that is actually or possibly of functional significance”
	Barone et al. (2014) Freeze and Aebi (2005)	Genetic diseases Congenital anomalies CDG	Undefined Undefined “genetic diseases due to defective glycosylation of proteins and lipids” (Barone et al. 2014) “A family of genetic diseases due to defects in the synthesis of the glycan moiety of glycoproteins and glycolipids and in their attachment to proteins and lipids” (Barone et al. 2014) “A group of diseases that affect glycoprotein biogenesis” (Freeze and Aebi 2005)
	Willems et al. (2016)	CDG Genetic defects	“Caused by defects in the protein glycosylation pathway” Undefined
	Francisco et al. (2019b)	Inherited (human) disorders Genetic diseases, CDG	Undefined “CDG is a rapidly expanding genetic disease family with  100 types reported”
	Brasil et al. (2022)	CDG	“A group of rare genetic disorders affecting protein and lipid glycosylation and glycosylphosphatidylinositol anchor biosynthesis”
	Dennis et al. (2009)	CDG Polygenic diseases, complex traits, complex trait diseases	“Hypomorphic defects in N-glycan biosynthesis” Undefined
	Francisco et al. (2019a)	CDG	“A rapidly growing family of genetic diseases that currently include some 130 different types” “A large and very heterogeneous group of genetic disorders. They comprise defects in the synthesis of glycoprotein and glycolipid glycans, and their attachment to proteins and lipids”
	Kitazawa and Shima (2020)	Congenital disorder	“Hemophilia A is a congenital disorder caused by deficiency or malfunction of coagulation factor (F) VIII”
	Benigni et al. (2004)	Congenital disorders	Undefined
Congenital anomaly/anomalies	Parnell et al. (2017)	Congenital anomalies, congenital malformations, birth defects	Undefined
	Robinson et al. (2021)	Congenital toxoplasmosis Congenital anomalies, congenital infection, congenital disease	“An infection caused by the protozoan parasite Toxoplasma gondi”
	Malinowski et al. (2020)	Congenital anomalies Monogenic genetic disorder, congenital abnormalities, congenital disorder of glycosylation	“Structural or functional abnormalities usually evident at birth, or shortly thereafter, and can be consequential to an individual’s life expectancy, health status, physical or social functioning, and typically require medical intervention” Undefined
	Breech and Laufer (2009)	Congenital anomalies, congenital abnormalities	Undefined
	Kunisaki (2012)	Congenital anomalies, birth defects	“Congenital anomalies are the end products of aberrant organogenesis in utero. Some of the more common congenital anomalies encountered in neonatal intensive care units include diaphragmatic hernia, gastroschisis, oesophageal atresia, spinal bifida and heart defects”
	Bowman and McLone (2010)	Complex congenital anomaly/abnormality, birth defect, congenital defects	Undefined
	Bell et al. (2021)	Congenital anomalies Congenital malformations	“Any abnormality reported after birth” “Any “birth-defect” in pregnancies with and without live births whereas the remainder of the studies reported congenital anomalies only from live birth pregnancies”
	Abel et al. (2004)	Congenital anomaly	“Isolated sternal cleft is a rare congenital anomaly presents from birth to adulthood”
	Barqawi (2005)	Congenital anomalies, congenital abnormalities, foetal malformations, birth defects, congenital malformations	Undefined
	Weichert et al. (2011)	Congenital anomalies, congenital abnormalities	Undefined

^The 10 articles included for each key search term above are those with the highest number of different terms coded during analysis of each sub-set of 20 that were randomly selected for full-text evaluation