Pink Eye (Conjunctivitis)

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Diagnosis In most cases, pink eye can be diagnosed by your healthcare professional through a discussion of your recent health history, symptoms, and a physical examination of your eyes. In rare situations, your healthcare professional may take a sample of the fluid that drains from your eye for laboratory testing, called a culture. This may be needed if symptoms are …

Conjoined Twins

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Diagnosis Conjoined twins can be diagnosed during a routine ultrasound as early as 7 to 12 weeks of pregnancy. More-detailed ultrasounds and echocardiograms (sound wave tests of the babies’ hearts) are performed around the midpoint of pregnancy to assess how the twins are connected and how their organs function. If conjoined twins are detected, a magnetic resonance imaging (MRI) scan …

Heart Failure

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Diagnosis Diagnosing heart failure begins with a detailed medical evaluation. Your healthcare professional will review your symptoms, medical history, and risk factors such as high blood pressure, coronary artery disease, or diabetes. During a physical exam, your care provider listens to your heart and lungs using a stethoscope. Murmurs, fluid in the lungs, or swelling in the legs and abdomen …

Craniosynostosis

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Diagnosis Craniosynostosis is usually diagnosed by specialists such as pediatric neurosurgeons or plastic and reconstructive surgery experts. The diagnosis may include the following steps: Physical Exam:The healthcare professional examines your baby’s head to feel for suture ridges and observe any abnormal facial or skull shape. Imaging Studies:Tests like CT scan and MRI provide detailed images of your baby’s skull. These …

Congenital Myasthenic Syndromes

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Diagnosis To diagnose congenital myasthenic syndromes, a doctor performs a physical and neurological examination, reviews symptoms, and takes a detailed medical and family history. Additional tests are often done to rule out other conditions with similar symptoms and to determine the severity of the disorder. Common diagnostic tests include: Blood tests: Identify abnormal antibodies that affect communication between nerves and …

Congenital Mitral Valve Anomalies

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Diagnosis To diagnose congenital heart disease in adults, a healthcare professional examines you and listens to your heart with a stethoscope. You may be asked about your symptoms, medical history, and family history of heart disease. Tests Tests are done to evaluate the heart’s function and to rule out other conditions that cause similar symptoms. Tests used to diagnose or …

Hirschsprung’s Disease

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Diagnosis Diagnosing Hirschsprung disease usually begins with a healthcare professional performing a physical examination and asking about the child’s bowel movements. Because symptoms often resemble other digestive issues, further tests are used to confirm the condition or rule out other causes. Common diagnostic tests include: Colon tissue biopsy: This is the most reliable test for diagnosing Hirschsprung disease. A small …

Congenital Heart Disease in Adults

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Diagnosis Congenital heart disease in adults may be discovered during a routine physical exam, or when symptoms such as shortness of breath, fatigue, or irregular heartbeat appear. Some adults may not know they have a heart defect until later in life. Tests used to diagnose congenital heart disease in adults include: Echocardiogram to view heart structure and blood flow Electrocardiogram …

Congenital Heart Defects in Children

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Diagnosis A congenital heart defect can be diagnosed during pregnancy or after birth. In many cases, signs of heart abnormalities are seen during a routine fetal ultrasound. After birth, healthcare professionals may suspect a heart defect if a baby shows certain signs such as: Growth delays Bluish color changes on the lips, tongue, or nails A heart murmur heard through …

Congenital Adrenal Hyperplasia

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Diagnosis Healthcare professionals may diagnose congenital adrenal hyperplasia (CAH) before birth, shortly after birth, or later in life during childhood or adulthood. Prenatal testing Tests that can detect CAH in fetuses at risk include: Amniocentesis, which removes a small amount of amniotic fluid for lab testing. Chorionic villus sampling, which collects placenta cells for genetic analysis. These tests confirm whether …