Microcephaly | Testing and Diagnosis

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How is microcephaly diagnosed?

Doctors typically diagnose microcephaly by:

  • obtaining a full medical and family history
  • performing a complete physical exam
  • measuring the circumference of the baby’s head as she grows, to compare these measurements with the average head size for age and gender
  • measuring the heads of his parents (sometimes smaller head sizes simply "run in the family,” rather than being microcephaly).

Can microcephaly be detected during pregnancy?

If your child has the congenital form of microcephaly — arising before birth — it might be possible to detect the disorder with a prenatal ultrasound during the third trimester of pregnancy. Smaller-than-normal head size is usually not obvious until the third trimester.

What testing is done for microcephaly?

If a child has microcephaly that involves some degree of learning disability or other impairment, we may suggest brain imaging tests to get further information, such as:

If your child has symptoms other than small head size, such as seizures or problems with hearing or vision, we may suggest further testing.

If a genetic cause of microcephaly is suspected, we may suggest genetic testing.  Several hundred genes have been linked with microcephaly and more continue to be discovered. Over time, as more children have genetic testing, it may be possible to group children according to their particular genetic form of microcephaly and better predict how they will do over time.

After we complete all necessary tests, we will meet with you and your family to discuss the results and make recommendations for your child’s care.

Did you know?
The Brain Development and Genetics Clinic at Boston Children’s Hospital is studying the genetic causes of microcephaly. Meet one family touched by the clinic's work. 

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