Diagnosis of Nephrotic Syndrome">Congenital Nephrotic Syndrome
The diagnosis of Congenital Nephrotic Disorder may be made before birth (prenatal) or immediately following birth. The following are some diagnostic methods employed:
1. Prenatal diagnosis:
Test for the levels of alpha-fetoprotein in the amniotic fluid: If a positive test result is obtained, then genetic test is required to confirm the disorder
Ultrasound scans to check the size of placenta, which is typically larger than normal if the baby has the syndrome
Molecular genetic testing for gene mutations, if available
2. Tests and exams performed following birth of the child:
Complete physical examination and assessment of symptoms
Evaluation of family medical history
Blood test to check for total protein levels: Reduced levels may be indicative of the condition, which is due to high excretion of protein from the body
Urine analysis for the presence of proteins and fats
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.