Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study

• Published in: Birth defects research Vol. 116; no. 1; pp. e2289 - n/a
• Main Authors: Rosa, Ernani Bohrer, Correia, Jamile Dutra, Silveira, Daniélle Bernardi, Nunes, Mauricio Rouvel, Gresele, Merialine, Dallagnol, Miriam Elisa, Ziliotto, Marieli Barp, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-01-2024; Wiley Subscription Services, Inc
• Subjects: Abortion; abortion methods; Apgar score; Birth weight; Blastogenesis; Bleeding; Case studies; craniofacial microsomia; Data analysis; Diabetes; Diabetes mellitus; Environmental factors; fetal metabolism; Genetics; Goldenhar syndrome; Low birth weight; maternal metabolism; Medical records; Patients; pregnancy; Premature birth; prevention; Risk factors; Vagina; Goldenhar syndrome; craniofacial microsomia; abortion methods; fetal metabolism; maternal metabolism; pregnancy; prevention
• ISSN: 2472-1727; 2472-1727
• DOI: 10.1002/bdr2.2289

Background
Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM.
Methods
This is a case–control study conducted with patients monitored at a medical genetics service and compared to a control group of patients without evidence of malformations, born in a mother and child hospital, both located in Porto Alegre, Southern Brazil. Mothers’ data were obtained using questionnaires and by reviewing medical records. The sample consisted of 43 patients with CM (cases) and 129 patients without evidence of malformations (controls), paired by sex, totaling three controls for each case. Data analysis was performed using the two‐tailed Fisher's exact test, Pearson's chi‐square test, and the t‐test.
Results
We identified several factors associated with the development of CM, including the use of abortion methods by the mothers of these babies (p = .001), maternal diabetes (p = .009), advanced maternal age (p = .035), and a history of vaginal bleeding (p < .001). Furthermore, these patients exhibited a tendency to be born prematurely (p = .027), with low birth weight (p = .007), and lower Apgar scores (p = .003) when compared to healthy infants. Using a multivariate model, the use of abortion methods (p = .003) and vaginal bleeding (p = .032) remained independently associated with craniofacial microsomia.
Conclusions
We have identified several risk factors for the development of CM, including a propensity for premature birth, low birth weight, and respiratory difficulties. Additionally, women of advanced maternal age and/or those who used abortion methods and/or have diabetes have a higher risk of giving birth to a baby with CM. This information can be valuable in clinical practice, especially for the prevention of future cases.