OBGYN.net: The Universe of Women's Health

Thinking About Pregnancy 

From the Mountain States Regional Genetic Services Network

The views represented here do not necessarily reflect the views of the Editorial Advisory Board of Pregnancy & Birth Section of OBGYN.net

Some BIRTH DEFECTS or CONDITIONS can be inherited ("run through the family") and may potentially increase the risk to one's own offspring. These include:

• Down syndrome and other chromosome abnormalities
• Spina bifida ("open spine"), hydrocephaly ("water on the brain"), or anencephaly
• Muscular Dystrophy such as Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
• Cleft lip or cleft palate
• Heart defects which are present at birth
• Individuals born with missing or extra fingers or toes
• Clubfoot or other foot, hand or bone abnormalities
• Born with stomach, bowel or kidney defects
• Known inherited disorders such as PKU, homocystinuria, etc.
• Mental retardation
• Deafness which is not due to advancing age or infection
• Childhood cataracts or blindness
• Known family history of cystic fibrosis
• Muscle or neurological condition
• Dwarfism or adult short stature under 4'11"
• Kidney problems such as adult polycystic kidney disease

While pregnancy can be a time of joy and excitement, it can also be a time of worry.

• "Will my baby have a birth defect?"
• "Have I done anything to increase the risk?"
• "What can I do to minimize the risk?"

For some CHRONIC MEDICAL PROBLEMS the physical status of the woman prior to conception can influence the outcome of the pregnancy. Some of these disorders include:

A past history of POOR PREGNANCY OUTCOME can be an important risk factor. Issues of potential concern include:

When a couple is CLOSELY RELATED to each other, such as first cousins or closer, a professional review of the family history prior to conception can be of value.

• Some GENETIC DISORDERS are more common in some ETHNIC GROUPS than in others. Tests are available to determine if an individual can pass on these disorders. If you or your partner come from any of the following ethnic groups you may benefit by requesting carrier testing for certain genetic disorders prior to conception.

   

  • Descended from Jewish or French Canadian people AND have never been screened for Tay Sachs disease
  • Are of Black ancestry AND have never been screened for Sickle Cell Trait
  • Are of Mediterranean or Asian ancestry AND have never been screened for Thalassemia
• If you or your partner have had testing in the past and were found to be a carrier, you may benefit by discussing the significance of this result with your health care provider.

Once you have made the decision to become pregnant, beware of agents that can increase the risk of birth defects:

• Seek medical care if you have a fever of greater than 102 °
• Avoid exposure to chemicals or toxic substances. If you have occupational exposure, use appropriate safety precautions
• Find out if you are immune to Rubella (German Measles)
• Avoid individuals with the Chicken Pox
• Be careful with the over-the-counter or prescription medications that you take. Check on the safety of the medication for pregnancy, including vitamins
• Do not use "recreational" drugs. If you have an addiction, seek treatment prior to conception
• If you are consuming alcoholic beverages, quit
• If you are smoking, quit
• Unnecessary x-ray examinations
• Maternal age of 35 years or older