A neonate is born at full term to a mother who did not receive prenatal care. The neonate required moderate resuscitation at birth. Upon assessment, the nurse notes poor muscle tone, a protruding tongue, low nasal bridge, and low-set ears. A loud continuous “machine-like” heart murmur is heard. The patient requires 85% FiO2 to maintain an oxygen saturation above 90%. Which of the following tests is the next best diagnostic step in the management of this patient?

Question

A neonate is born at full term to a mother who did not receive prenatal care. The neonate required moderate resuscitation at birth. Upon assessment, the nurse notes poor muscle tone, a protruding tongue, low nasal bridge, and low-set ears. A loud continuous &ldquo;machine-like&rdquo; heart murmur is heard. The patient requires 85% FiO2 to maintain an oxygen saturation above 90%.  Which of the following tests is the next best diagnostic step in the management of this patient?

Accepted Answer

Echocardiogram. The infant has signs and symptoms concerning for Down syndrome or trisomy 21, namely poor muscle tone, protruding tongue, low nasal bridge, and low set ears.  Down syndrome is frequently associated with cardiac birth defects, such as a patent ductus arteriosus (PDA), which can cause hypoxia at birth.  An urgent echocardiogram is indicated to identify and assess any structural heart defects requiring urgent treatment.  The other tests, ABO/Rh blood test, complete blood count, and a chromosomal microarray, are of lower priority in this patient.

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