Birth Defects

Birth defects are genetic or physical abnormalities that develop during pregnancy and are present at birth. Many congenital disabilities are due to chromosomal or genetic irregularities, and environmental factors cause others. Common congenital disabilities include:

• Congenital heart defects, including abnormalities in the walls and valves of the heart
• Neural tube defects, including spina bifida or Chiari malformation
• Cleft palate
• Club foot
• Fetal alcohol syndrome

The team at Maternal-Fetal Medicine Specialists of Southern California has years of experience and clinical training in diagnosing and managing congenital disabilities and fetal abnormalities.

How can I know if my baby has congenital disabilities?

Maternal-Fetal Medicine Specialists of Southern California offer comprehensive genetic screening and testing to assess your risk and diagnose congenital disabilities. In most cases, our specialists recommend genetic screening to determine if further diagnostic tests are necessary.

You and your partner can have carrier testing to identify if you carry any genes for birth defects that could pass on to your baby. Carrier testing is usually a blood test or a tissue sample collected with a cheek swab.

We also offer genetic blood tests and advanced ultrasound screening in your pregnancy's first and second trimesters. For example, during your first-trimester ultrasound, our specialists can perform a nuchal translucency screening to measure the space at the back of your baby’s neck. An abnormal measurement can indicate a risk of Down syndrome and other physical abnormalities.

If you have positive results from your genetic screening tests, we provide fetal diagnostic tests, including amniocentesis and chorionic villus sampling (CVS). We take small samples of your amniotic fluid (amniocentesis) and placenta (CVS), which are tested for specific signs of congenital disabilities.

Can I prevent birth defects?

Many congenital disabilities are genetic, and you may not be able to prevent them. However, you can take steps to protect your health and your baby's development.

The Maternal-Fetal Medicine Specialists of Southern California team provides customized advice to help you optimize your health. You can adjust your diet to include plenty of nutritious vegetables, fruits, lean proteins and whole grains.

You should avoid substances such as alcohol, tobacco and other drugs that are harmful to you and your baby. If you need help making these lifestyle adjustments, the team at Maternal-Fetal Medicine Specialists of Southern California can provide support and resources.