BIRTH DEFECTS TESTING

BIRTH DEFECTS TESTING

Birth defect testing done in the midst of pregnancy can look for possible issues with the baby. Birth defects are created when something isn’t normal with the characteristics or chromosomes, an organ, or the anatomy. A birth defect may have a small impact on a child’s life, or it can significantly affect individual fulfillment or future.

Birth defects include:

  • Chromosomal defects, such as Down disorder and trisomy 18
  • Diseases that run in a family, for instance, Tay-Sachs, sickle-cell disease, and cystic fibrosis
  • Major organs, such as heart abnormalities and neural tube defects, including spina bifida

TYPES

There are the two sets of birth defect tests: screening and diagnostic.

The screening tests show the risk that the baby may have a specific birth abnormality. If the test result is positive, it suggests that your baby will undoubtedly have that birth defect. Thus, your doctor may require you to have a diagnostic test to be sure. If the screening test result is “negative,” it suggests that your baby may not have that birth defect. Regardless, it doesn’t guarantee that your baby will not have any defects.

DIAGNOSIS

Your doctor may request for the following tests:

Screening tests are done to check whether a woman or her baby may have certain issues.

First trimester screening are tests completed between weeks 11 and 13 of pregnancy.

Maternal blood screen is an important blood test.

Ultrasound is done in the first trimester to scan for extra fluid behind the baby’s neck.

Second trimester screening is done between weeks 15 and 20 of pregnancy.

Maternal serum screen is an essential blood test.

Anomaly ultrasound is done around 18– 20 weeks of pregnancy.

Diagnostic tests will show whether birth defects or other possible issues with the baby are there.

High resolution ultrasound is a level II ultrasound.

Chorionic villus sampling (CVS) is a test where the doctor gets a sample of a part of the placenta known as the chorionic villus.

Amniocentesis is a test where the doctor obtains a sample of amniotic fluid that surrounds the baby.

AFP refers to alpha-fetoprotein testing.

AChE is for acetylcholinesterase determination

PREVENTION

  • Plan ahead
  • Maintain a strategic distance from harmful substances
  • Have a healthy way of life

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