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A future for neonatal alpha1-antitrypsin screening?
1Department of Paediatrics, University of Lund, University Hospital, Malmö, Sweden.
Insights
Neonatal screening for alpha1-antitrypsin deficiency (alpha1ATD) is recommended by WHO experts. Early detection aids in managing liver disease and preventing emphysema, with screening timing debated due to smoking risks and psychosocial factors.
Area of Science:
- Medical Genetics
- Public Health
- Pediatrics
Background:
- Alpha1-antitrypsin deficiency (alpha1ATD) affects 1 in 5000 in the US and up to 1 in 500 in Europe.
- alpha1ATD is a significant risk factor for neonatal liver disease and adult-onset emphysema.
- Smoking drastically reduces life expectancy and the asymptomatic period for individuals with alpha1ATD.
Purpose of the Study:
- To evaluate the benefits and drawbacks of neonatal screening for alpha1-antitrypsin deficiency (alpha1ATD).
- To discuss the optimal timing for alpha1ATD screening, considering early intervention versus the age of smoking initiation.
- To address the psychosocial implications and potential discrimination associated with alpha1ATD screening.
Main Methods:
- Review of WHO expert recommendations on alpha1ATD screening.
- Analysis of data from the Swedish alpha1AT screening program.
- Discussion of potential advantages and disadvantages of neonatal versus school-age screening.
Main Results:
- Neonatal screening enables early diagnosis and treatment of liver disease in infants with alpha1ATD.
- Information and advice provided during screening can deter adolescents from smoking, as seen in the Swedish program.
- Debate continues regarding the optimal screening age due to psychosocial concerns and the effectiveness of anti-smoking advice.
Conclusions:
- Neonatal screening for alpha1ATD offers benefits for early disease management and smoking prevention.
- The timing of screening remains a critical consideration, balancing early intervention with potential psychosocial impacts and child participation.
- Further research is needed to address uncertainties regarding screening participation, psychosocial reactions, and the efficacy of anti-smoking interventions.
Abstract:
A WHO expert group recommends neonatal screening for alpha1-antitrypsin deficiency (alpha1ATD). Homozygous alpha1ATD PiZZ occurs in 1 in 5000 of the U.S. Caucasian population and up to 1 in 500 individuals of the European population, with a large regional variation. It is a risk factor that predisposes mainly to liver disease in early infancy and emphysema in early adulthood. Most importantly, smoking decreases the duration of the asymptomatic phase and life expectancy by 10-20 y. The Swedish alpha1AT screening programme and subsequent information and advice prevented the majority of adolescents from starting to smoke. The involved parents and alpha1ATD adolescents retrospectively recommended neonatal screening. Potential advantages of neonatal alpha1AT screening are: early diagnosis and treatment of neonatal liver disease, optimal treatment of fever and bacterial infections theoretically preventing liver cell damage, genetic advice and information about the consequences of passive and active smoking. Potential advantages of postponing screening until age 11-12y are: identification of alpha1ATD close to the age when smoking may start, and possibility for the child to take part in the screening decision. Disadvantages of alpha1AT screening are: psychosocial reactions--the mother probably being most vulnerable in the neonatal period--and discrimination by insurance companies and employers. Important uncertainties are: lack of knowledge concerning participation in a voluntary alpha1AT screening, psychosocial reactions and the efficacy of anti-smoking advice if the information is given to school-age children and families. Thus the question whether and when to screen for alpha1ATD is still the topic of lively debate.