children s health issues
Macrocephaly
Diagnosis of Macrocephaly
Before birth, ultrasound After birth, physical examination, including measurement of head circumference and sometimes magnetic resonance imaging (MRI) Genetic testing the diagnosis of macrocephaly sometimes is made with a routine Ultrasonography done late in the second trimester or early in the third trimester. doctors measure a baby's Head Circumference (the measurement of the head around its largest area) during routine physical examinations. They diagnose macrocephaly when the head circumference is significantly larger than the normal range for babies of the same sex, age, and ethnic group in the region where the baby lives. When making the diagnosis, doctors also take into account the head circumference of the baby's parents and grandparents because a slightly larger head size may run in the family. If macrocephaly is present, doctors usually do Magnetic Resonance Imaging (MRI) of the brain to look for abnormalities. Doctors also evaluate the newborn and parents to look for possible causes of macrocephaly and then test for any causes they suspect. Sometimes the doctor may request blood tests to help determine the cause. A baby who has this birth defect may be evaluated by a geneticist. A geneticist is a doctor who specializes in genetics (the science of genes and how certain qualities or traits are passed from parents to offspring). Genetic testing of a sample of the baby's blood may be done to look for chromosome and gene abnormalities. This testing can help doctors determine whether a specific genetic disorder is the cause and rule out other causes. 