[Genetic screening of prospective parents]

Area of Science:

• Medical Genetics
• Reproductive Health
• Public Health Screening

Background:

• Autosomal recessive and X-linked genetic diseases pose unknown risks to prospective parents.
• Affected children are often the first indication of these genetic conditions.
• New technologies facilitate expanded carrier screening (ECS) for numerous genetic diseases.

Purpose of the Study:

• To review considerations and perspectives for a systematic genetic screening program.
• To evaluate the potential impact of expanded carrier screening in Denmark.
• To inform the integration of ECS into the Danish healthcare system for prospective parents.

Main Methods:

• Systematic review of current literature on expanded carrier screening.
• Analysis of healthcare system integration models for genetic screening.
• Examination of ethical, social, and clinical perspectives on ECS implementation.

Main Results:

• Expanded carrier screening can detect carriers for hundreds of genetic diseases.
• An estimated 100-180 children in Denmark are born annually with conditions detectable by ECS.
• Implementation requires careful consideration of healthcare infrastructure and public engagement.

Conclusions:

• Systematic genetic screening through ECS offers a proactive approach to preventing serious inherited conditions.
• Integration into the Danish healthcare system is feasible and recommended.
• ECS can significantly reduce the incidence of affected births and improve reproductive planning.