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Birth Defects: Testing and Prevention

Birth Defects

Pregnancy can be quite the venture; however the payoff of a beautiful baby is well worth the journey. During pregnancy, certain tests are offered to check for birth defects and deficiencies. Early indications of certain defects during pregnancy is many times nothing to fret about. While these tests might be stress-inducing for new moms, they are a great resource to prepare yourself.

At Women’s Health Arizona, we are here with you every step of the way, from the first test to the last, and everything in between. While many of these tests are routine, it can still be a stressful time for moms and dads, so take care in knowing that our highly trained physicians have the experience and compassion to get everyone through it together.

First Trimester

Completed between weeks 11 and 14 of pregnancy.

  • Maternal Blood Screen: This screen measures human chorionic gonadotropin (hCG) levels and pregnancy associated plasma protein A (PAPP-A). If the levels are abnormally high or low, there could be a chromosomal disorder in the baby.
  • Ultrasound: Fluid around certain areas of the baby is examined. Increased fluid means the baby could be at risk for a chromosomal disorder or heart defect.
  • Noninvasive Prenatal Testing (NIPT): A procedure to learn the risk of having a baby with a chromosomal disorder such as Down syndrome or Duchenne muscular dystrophy. During this test, a sample of the mother’s blood is taken to look for abnormalities in the baby’s DNA. The test can be done when the woman is at least 10 weeks pregnant, depending on the condition your ObGyn provider is looking for.
  • Chorionic Villus Sampling (CVS): CVS is a test to check for chromosomal or genetic disorders in the baby. Generally, a CVS test is offered to women who received an abnormal result or to women at higher risk. It is completed between 10 and 12 weeks of pregnancy.

Second Trimester

Completed between weeks 15 and 20 of pregnancy.

  • Maternal Serum Screen: A blood test used to identify increased risk for having a baby with certain birth defects. These defects include neural tube defects or chromosomal disorders such as Down syndrome.
  • Fetal Echocardiogram: A test that uses sound waves to check the baby’s heart for heart defects.
  • Anomaly Ultrasound: The ultrasound can check the size of the baby and looks for structural anomalies. Most women choose this test to see their child and assess the sex of the baby!
  • Amniocentesis: Generally, only offered to women at high risk for birth defects. Amniocentesis tests for alpha-fetoprotein, a protein unborn babies produce. Abnormal levels of the protein may indicate Down syndrome, spina bifida, twins, or an inaccurate due date. Amniocentesis also tests for acetylcholinesterase, an enzyme that the unborn baby produces. This enzyme can pass from the baby to the fluid surrounding the baby if there is a neural tube opening.

Birth Defects After Birth

Some birth defects may not be diagnosed until after birth.

Birth Defects Prevention

Courtesy of National Center on Birth Defects and Developmental Disabilities (NCBDDD)

  • Get 400 mcg of folic acid daily
  • Prevent infections
  • See a healthcare professional regularly and talk about medications and vaccinations
  • Keep diabetes under control
  • Avoid alcohol at any time during pregnancy
  • Don’t smoke cigarettes
  • Avoid marijuana and other drugs
  • Avoid overheating and treat fever promptly

Fetal Alcohol Spectrum Disorders (FASDs)

Alcohol exposure during pregnancy is a leading cause of preventable birth defects. Experts believe that 2 to 9 children out of 1000 have fetal alcohol syndrome (FAS).

CDC researchers found that about 1 in 9 pregnant women reported drinking alcohol in the past 30 days. Among pregnant women, about one third who reported consuming alcohol engaged in binge drinking.

If you would like to meet with a knowledgeable doctor, consider contacting Women’s Health Arizona. As Arizona’s largest ObGyn group, we’re trained and solely dedicated to delivering the best ObGyn experience in convenient and comfortable settings around Phoenix.

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