HOW Do Doctors Diagnose Birth Defects?

Some birth defects can be diagnosed while the unborn child is still in its
mother’s womb. A procedure called ultrasound, which uses sound waves
to produce an image of a fetus on a screen, can detect some malformations.
For example, a defect called spina bifida, in which a part of the
spinal cord is exposed, can be discovered by ultrasound.
In a procedure called amniocentesis (am-nee-o-sen-TEE-sis), a small
sample of fluid surrounding the fetus is removed through a needle and
examined. This test is useful in detecting inborn metabolic (body chemistry)
defects and abnormalities in the chromosomes.
Many birth defects can be diagnosed by a doctor’s physical examination
of a newborn baby. Other tests, including x-rays, may be ordered if
doctors suspect a birth defect; blood tests can detect certain disorders of
the blood or body chemistry. Many infants with defects can develop normally
if they receive prompt treatment.

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