Universal screening for inherited metabolic diseases in the neonate (and the fetus)

Area of Science:

• Biochemistry
• Genetics
• Public Health

Background:

• Newborn screening traditionally identifies infants with inherited metabolic diseases requiring early intervention to prevent severe outcomes.
• Tandem mass spectrometry has advanced screening by quantifying amino acids and acylcarnities in dried blood spots.
• Expanded newborn screening programs face challenges in disease selection and slow, inconsistent implementation globally.

Purpose of the Study:

• To review the evolution of newborn screening for inherited metabolic diseases.
• To discuss the implications of emerging high-throughput technologies in neonatal and prenatal screening.
• To highlight the technical, political, and ethical issues associated with expanded screening.

Main Methods:

• Review of current practices in newborn screening for inherited metabolic diseases.
• Analysis of the impact of tandem mass spectrometry on metabolic screening.
• Discussion of the potential and challenges of next-generation sequencing and non-invasive prenatal testing.

Main Results:

• Tandem mass spectrometry has expanded the scope of detectable metabolic disorders.
• Next-generation sequencing and non-invasive prenatal testing offer new possibilities for genetic screening.
• Ethical considerations include ambiguous results, late-onset conditions, and therapeutic timing for disorders like lysosomal storage diseases.

Conclusions:

• The field of newborn screening is rapidly advancing with new technologies, moving beyond traditional metabolic screening.
• These technological advancements necessitate careful consideration of technical, political, and ethical challenges.
• Future screening strategies will likely integrate genetic and metabolic approaches for both neonatal and prenatal diagnostics.