A novel syndrome may be associated with maternal fentanyl use, according to a recent study published in Genetics in Medicine Open.1
Takeaways
- Maternal fentanyl use has been linked to a newly identified syndrome, as reported in a recent study published in Genetics in Medicine Open.
- The identification of novel syndromes often involves recognizing recurrent patterns of congenital anomalies and assessing shared genetic variants among affected individuals.
- In the summer of 2022, researchers observed distinctive facial features, small heads, short stature, and physical abnormalities in infants born to mothers who had used nonprescription fentanyl at Nemours Children's Hospital in Delaware.
- The study compared the facial features of affected infants with controls, and distinctive characteristics, such as single palmar crease, foot position abnormalities, genital anomalies, cleft palate, adducted thumb, and toe syndactyly, were observed in infants with prenatal fentanyl exposure.
- Further research is needed to establish a definitive link between fentanyl use during pregnancy and this novel syndrome, but the findings suggest a potential association.
A novel syndrome is often found through the evaluation of a recurrent pattern of congenital anomalies. Delineation of novel syndromes is often accomplished by assessing shared genetic variants among individuals.
In the summer of 2022, a pattern of facial features and physical abnormalities was observed among infants at Nemours Children’s Hospital, Wilmington, Delaware.2 Karen W. Gripp, MD, Chief of the Division of Medical Genetics at Nemours Children’s Health, Wilmington, reported small heads, short stature, and distinctive facial features among these infants.
Investigators conducted a study evaluating Smith-Lemli-Opitz syndrome (SLOS) in neonatal patients born from pregnancies complicated by nonprescription fentanyl exposure.1
Facial photographs of participants were collected, with controls age matched to those with suspected SLOS or fetal alcohol syndrome (FAS). Images were evaluated using Face2Gene’s (FDNA Inc) GestaltMatcher algorithm.
Distinctive facial features and relatively low growth parameterswere observed among infants born from pregnancies complicated by drug exposures such as fentanyl. These includesingle palmar crease, foot position abnormalities, genital anomalies, cleft palate, adducted thumb, and 2,3 toe syndactyly.
Additional presentations in infants with suspected SLOS include elevated 7-dehydrocholesterol or 8-dehydrocholesterol. Individuals with the novel syndrome were distinct from other groups even after Bonferroni correction.
Fentanyl has been associated with multiple birth defects, making it a potential source of these abnormalities.2 However, since data on the timing and amount of fentanyl use among participants was limited, Gripp concluded further research is necessary to determine the association between fentanyl use and these abnormalities.
“Given the fentanyl use epidemic, it is important to recognize this condition,” Gripp said. “Analogous to prenatal alcohol exposure causing fetal alcohol syndrome with long-term physical and developmental consequences, this novel condition may impact many infants in life-changing ways.”
These findings resembled those of SLOS, supporting prenatal cholesterol metabolism abnormalities as the potential cause.1 Investigators recommended further studies to evaluate the long-term outcomes of the novel syndrome.
Reference
- Wadman E, Fernandes E, Muss C, et al.A novel syndrome associated with prenatal fentanyl exposure. Genetics in Medicine Open. 2023;1(1). doi:10.1016/j.gimo.2023.100834
- Newstudy identifiescommon physical features in babies born to mothers who used fentanyl. Nemours Children’s Health. October 24, 2023. Accessed October 30, 2023. https://nemours.mediaroom.com/NewStudyIdentifiesNovelSyndrome2023
