A recent study published in the journal Genetics in Medicine Open has identified a potential new syndrome in babies born to mothers who used fentanyl during pregnancy. The research, conducted by a team of genetic counselors and physicians at Nemours Children’s Hospital in Delaware, found that these infants exhibited distinct facial and musculoskeletal abnormalities, hinting at a new pattern of birth defects.
Fentanyl is a powerful synthetic opioid that is used medically to treat severe pain, often in cases of surgery or chronic pain management for conditions like cancer. It is significantly more potent than morphine, making it effective in small doses. However, fentanyl is also widely known for its role in the opioid crisis due to its high potential for addiction and overdose, especially when used illicitly.
The study was initiated after healthcare professionals at Nemours Children’s Hospital observed several infants with similar physical anomalies who were referred to the hospital for feeding difficulties shortly after birth. Karen W. Gripp, Chief of the Division of Medical Genetics at Nemours Children’s Health, Delaware Valley, explained that the team wanted to investigate these recurring features and determine if they pointed to a previously unrecognized syndrome.
Given the increasing prevalence of fentanyl use and its known ability to cross the placenta, the researchers aimed to explore whether prenatal exposure to this potent opioid might be responsible for these observed abnormalities.
The researchers enrolled six infants from Nemours Children’s Hospital and later included four more from other institutions, bringing the total number of participants to ten. All infants had been exposed to fentanyl in utero. The study involved a comprehensive assessment of their physical characteristics and genetic testing to rule out other potential diagnoses.
The infants displayed a range of physical abnormalities, including small heads, short stature, and distinct facial features. Genetic tests were conducted to rule out Smith-Lemli-Opitz syndrome and fetal alcohol syndrome, both of which can cause similar symptoms. These tests confirmed that the infants did not have these conditions, strengthening the hypothesis that the anomalies might be linked to fentanyl exposure.
The team used the GestaltMatcher algorithm, a facial recognition tool developed by FDNA Inc., to analyze the facial features of the infants. This analysis supported the distinctiveness of the features seen in these infants compared to those with other syndromes and typical individuals.
The study found that all ten infants shared several physical characteristics, suggesting a possible link to prenatal fentanyl exposure. The researchers observed:
- Small head size and short stature in all infants.
- Distinctive facial features, including abnormalities in the shape and structure of the face.
- High prevalence of cleft palate, observed in five out of six infants.
- Genital anomalies in four out of five male infants.
- Foot abnormalities, such as “rocker bottom” feet in two infants and talipes equinovarus (clubfoot) in three.
- Other common features included short, broad thumbs, a single palmar crease, and fused toes.
One infant out of the ten had died, while six continued to receive care through the Nemours system. Three others were being monitored by physicians in different states.
While the study presents compelling evidence of a potential new syndrome, it has several limitations. One major limitation is the small sample size of just ten infants, which makes it difficult to draw definitive conclusions.
Another limitation is that the findings were based on clinical observations and genetic testing, without experimental data to support a causal relationship. Further research is necessary to confirm whether fentanyl directly causes these abnormalities and to explore the underlying mechanisms.
Future research is needed to establish whether prenatal fentanyl exposure indeed causes the observed abnormalities. This could involve laboratory experiments to study the effects of fentanyl on fetal development and cholesterol metabolism. Additionally, larger epidemiological studies are required to determine the prevalence of this potential syndrome and to identify any genetic or environmental factors that might influence its development.
Long-term follow-up studies on affected infants are also crucial to understand the full range of physical, cognitive, and developmental outcomes associated with this condition. These studies will help determine whether the syndrome exists on a spectrum, with some infants exhibiting milder forms of the condition.
Gripp and her colleagues are actively seeking to identify more patients with similar features to expand their research and provide further evaluation and care. Given the widespread use of fentanyl and its significant impact on public health, recognizing and understanding this potential new syndrome is of utmost importance.
“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.”
The study, “A novel syndrome associated with prenatal fentanyl exposure,” was authored by Erin Wadman, Erica Fernandes, Candace Muss, Nina Powell-Hamilton, Monica H. Wojcik, Jill A. Madden, Chrystalle Katte Carreon, Robin D. Clark, Annie Stenftenagel, Kamal Chikalard, Virginia Kimonis, William Brucker, Carolina Alves, and Karen W. Gripp.
