Genetic testing strategies in the newborn.

Area of Science:

• Medical Genetics
• Neonatology
• Genomic Medicine

Background:

• Neonatal genetic disorders pose significant morbidity and mortality risks.
• Early diagnosis is crucial for prognostic counseling and precision care in newborns.
• Expanding genetic testing necessitates enhanced neonatologist knowledge.

Purpose of the Study:

• To review genetic testing modalities used in the neonatal intensive care unit (NICU).
• To provide background on technology, indications, benefits, and limitations of neonatal genetic tests.
• To highlight the evolving role of next-generation sequencing in managing neonatal diseases.

Main Methods:

• Literature review of genetic tests in the NICU.
• Analysis of classic cytogenetics and next-generation sequencing (NGS).
• Evaluation of clinical indications, advantages, and limitations.

Main Results:

• Genetic testing is expanding in the NICU.
• Understanding various genetic tests, from cytogenetics to NGS, is vital.
• NGS is increasingly impacting neonatal disease management.

Conclusions:

• Genetic testing is essential for diagnosing and managing neonatal disorders.
• Neonatologists require updated knowledge on genetic testing applications.
• Advances in genetic technology, particularly NGS, offer improved diagnostic and therapeutic possibilities for neonates.