Undetected Genetic Defects And Abnormalities
Not all pregnancies result in normal, healthy babies. Unfortunately, the rates of genetic problems are much higher than most people realize. Research shows that five out of every 100 conceptions will result in a fetus with significant genetic abnormalities.
Until recently, doctors were limited in how they could identify problematic pregnancies. They based much of their analysis on family history. However, because most genetic disorders have a recurrence risk of 25 to 50 percent, family history alone can only detect up to 20 percent of high-risk pregnancies. As a result, 80 percent went undetected.
A Window Into The Womb
Advances in modern technology mean it’s no longer such a mystery what’s going on in the womb. Many types of testing can shed light on the well-being of your fetus:
Genetic testing can identify changes in chromosomes, genes or proteins that are associated with inherited (hereditary) disorders. These tests typically involve samples of blood, hair, skin, amniotic fluid or other tissues. Although genetic testing is voluntary, medical providers must still give patients the opportunity to pursue it.
- Amniocentesis is a procedure for detecting genetic abnormalities and neural tube defects. Although usually performed between the fifteenth and seventeenth week of pregnancy, it may actually be done earlier in certain situations. Because the risk of Down’s skyrockets for women over age 35, doctors have a responsibility to advise these high-risk patients about risks and benefits of amniocentesis, as well as the possible consequences of failing to perform the procedure.
- Chorionic villis sampling can identify chromosomal abnormalities such as Down’s syndrome, trisomy 13 and trisomy 18. It can also identify certain genetic diseases such as cystic fibrosis and Tay-Sachs disease. The procedure involves removing cells from the placenta for testing. It can be performed sooner than amniocentesis.
These tools are especially useful in at-risk pregnancies involving:
- Mothers age 35 or older
- Mothers with a history of:
- Chromosomally abnormal pregnancies
- Prior spontaneous abortions (miscarriages)
- A family history of certain genetic disorders or metabolic diseases
- Risk factors for neural tube defects or other congenital conditions
Genetic testing isn’t limited to pregnancy. It may also be an option for at-risk couples who are thinking about starting a family. Carrier testing, preimplantation testing, predictive testing and other screenings may be appropriate in certain situations.
The Limits Of Genetic Testing And Your Right To Make Informed Decisions
Genetic test results can be positive, negative or inconclusive. Many tests don’t have the ability to detect every genetic change associated with a particular disease. All have a margin of error, and much depends on properly interpreting the results.
Nonetheless, your doctor has a responsibility to inform you about your options for genetic testing so you can make knowledgeable choices on life-altering decisions. Unfortunately, negligence and genetic misdiagnosis happen far too often. These oversights may involve:
- Failure to offer genetic testing in high-risk pregnancy or conception situations
- Failure to provide genetic counseling when warranted
- Failure to correctly interpret the test results
- Failure to follow up on problematic results
- Failure to inform patients of their options for testing
- Failure to refer patients to geneticists or genetic counselors when appropriate
The results of these failures can be devastating. Children with genetic abnormalities struggle with severe and lifelong medical conditions such as:
- Cystic fibrosis
- Fragile X syndrome
- Tay-Sachs disease
- Spina bifida
- Sickle cell disease
- Trisomy 13 (Patau’s syndrome)
- Trisomy 18 (Edward’s syndrome)
- Trisomy 21 (Down’s syndrome)
If your child suffers from a genetic disease and you were not given the option to undergo genetic testing — or your results were misinterpreted — we can help you pursue accountability. Call Barry D. Lang, M.D. & Associates, at 1-877-LAW-DOCS. Based in the Boston area, we handle these cases across Massachusetts. Our lawyers can help you assert your rights and get the compensation you deserve.
Your initial consultation is free. Contact us to learn more.