Newborn with hepatomegaly and microcephalic and small for age, high LFT. What is the appropriate next step: chromosomal analysis or congenital infection screening?

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The question describes a newborn with hepatomegaly, microcephaly, small for gestational age, and high liver function tests (LFTs). It asks about the most appropriate next step in the evaluation of this newborn, with two options listed: chromosomal analysis and congenital infection screening.

More Information

The constellation of hepatomegaly, microcephaly, small for gestational age, and abnormal liver function tests (LFTs) in a newborn is highly suggestive of congenital infection. Prompt screening for congenital infections is essential to enable early intervention and management. While chromosomal abnormalities can present with some of these features, congenital infections are more likely given the combination of findings.

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Sources

• Congenital Cytomegalovirus Infection: Update on Diagnosis and - pmc.ncbi.nlm.nih.gov