The Glucose-6-Phosphate Dehydrogenase (G6PD) - Neonatal Screen is a diagnostic test conducted on newborns to identify the presence of Glucose-6-Phosphate Dehydrogenase deficiency (G6PD deficiency), a genetic disorder. G6PD is an enzyme found in red blood cells, and its deficiency can lead to a type of anemia called hemolytic anemia.
In G6PD deficiency, red blood cells break down upon exposure to certain infections, medications, or substances found in fava beans. Newborn screening for G6PD deficiency allows for early detection, enabling proper management and prevention of triggers that can cause hemolytic anemia.
This screening test is done to determine if a newborn has G6PD deficiency. Early detection can help avoid substances and medications that may cause complications like hemolytic anemia.
A small blood sample is taken from the newborn's heel, which is then sent to a laboratory for analysis.
A positive result suggests that the newborn has G6PD deficiency. Further confirmatory tests may be required.
A negative result suggests that the newborn does not have G6PD deficiency.
The turn-around time for the results is typically between 2 to 7 days, depending on the laboratory.
You should consult a pediatrician if your newborn's test result is abnormal. They may refer you to a specialist if necessary.
Prematurity, recent transfusion, or certain medications given to the newborn may affect the results. Discuss any such factors with the healthcare provider.
Management of G6PD deficiency involves avoiding triggers that could lead to hemolytic anemia. This includes certain medications, foods (like fava beans), and infections.
Precautions include avoiding certain medications and foods that can trigger hemolytic anemia in individuals with G6PD deficiency. Regular follow-ups with the pediatrician are also crucial.
The G6PD Neonatal Screen is usually a one-time test done soon after birth. If the test is positive, your pediatrician may recommend periodic blood tests to monitor the child's red blood cell count.
No, fasting is not required for this test.
Normal values can vary depending on the laboratory, but generally, a normal result indicates that G6PD enzyme activity is within the typical range.
There are no modifiable factors for G6PD deficiency as it is a genetic condition.
G6PD deficiency is an inherited condition, so the primary non-modifiable factor is the baby's genetic makeup. It is more common in males and in certain ethnic groups.
The G6PD Neonatal Screen is a crucial test for early detection of G6PD deficiency in newborns. Prompt identification can help manage the condition effectively and prevent potential complications. As a parent, you play a significant role in ensuring the well-being of your child by adhering to the pediatrician's advice and monitoring any symptoms your child may exhibit.