Mucopolysaccharidosis - Prenatal Diagnosis
Hello Dr.
Lin,
My husband's elder brother's son has mucopolysaccharidosis and is currently about 7 years old, receiving regular treatment at Mackay Memorial Hospital.
I am currently 11 weeks pregnant with my second child; my first child is 3 years old and healthy.
There is no relevant medical history in my family, and my husband's family has my nephew as the first case.
Should I undergo prenatal screening for mucopolysaccharidosis? Which hospitals offer this service? What are the associated testing costs? What is the testing method and the appropriate gestational age for testing? Thank you!
BLANCA, 30~39 year old female. Ask Date: 2005/03/21
Dr. Lin Xuanpei reply Rare Disease
It is essential to first determine which type of mucopolysaccharidosis (MPS) your husband's nephew has, as the inheritance patterns differ among the various types.
However, based on your situation, it can be inferred that whether it is the X-linked recessive type (MPS II) or other types that are inherited in an autosomal recessive manner, the probability of your child inheriting mucopolysaccharidosis is very low and comparable to that of the general population.
For further understanding, please consult a genetic specialist at a nearby medical center, such as the Pediatric Genetics Department at Mackay Memorial Hospital, Dr.
Lin Hsuan-Pei.
Reply Date: 2005/03/21
More Info
Prenatal screening for mucopolysaccharidosis (MPS) is an important consideration, especially in families with a known history of the condition. MPS is a group of inherited metabolic disorders caused by the absence or malfunctioning of specific enzymes needed to break down glycosaminoglycans (GAGs), leading to their accumulation in the body. Given that your brother-in-law's son has been diagnosed with MPS, it is prudent to discuss the possibility of screening for your unborn child.
Why Consider Prenatal Screening for MPS?
1. Family History: Since your nephew is the first known case in your family, it is essential to assess the risk for your second child. MPS is inherited in an autosomal recessive manner, meaning both parents must carry a mutated gene for the child to be affected. If your husband is a carrier, there is a 25% chance with each pregnancy that the child will inherit the disorder.
2. Early Detection: Prenatal screening can help identify whether the fetus is at risk for MPS. Early detection allows for better management options and planning for the child's care if they are diagnosed with the condition.
Recommended Steps for Prenatal Screening
1. Genetic Counseling: It is advisable to consult with a genetic counselor who specializes in metabolic disorders. They can provide information about the specific type of MPS your nephew has and the implications for your family. They can also help determine if your husband should undergo carrier testing.
2. Carrier Testing: If your husband is found to be a carrier, prenatal testing can be offered to determine if the fetus is affected. This can be done through chorionic villus sampling (CVS) or amniocentesis, which are invasive procedures that can provide genetic information about the fetus.
3. Screening Options: Some hospitals and clinics offer non-invasive prenatal testing (NIPT) that can screen for certain genetic conditions, including some types of MPS. However, these tests may not cover all types of MPS, so it is essential to discuss with your healthcare provider what specific tests are available.
Where to Get Tested
- Local Hospitals and Genetic Centers: Many hospitals with maternal-fetal medicine departments or genetic counseling services can provide prenatal screening for MPS. You may want to contact your local hospitals or specialized genetic centers to inquire about their services.
- Costs: The cost of genetic testing can vary widely depending on the type of test, the facility, and your insurance coverage. It is best to check with your insurance provider to understand what is covered and what out-of-pocket expenses you may incur.
Timing for Testing
- Optimal Testing Window: The ideal time for CVS is between 10 to 13 weeks of gestation, while amniocentesis is typically performed between 15 to 20 weeks. Non-invasive tests can be done as early as 10 weeks. Discuss with your healthcare provider the best timing based on your specific situation.
Conclusion
Given your family history of mucopolysaccharidosis, pursuing prenatal screening is a wise decision. Engaging with a genetic counselor will provide you with tailored advice and help you navigate the testing options available. Early detection and understanding your risks can significantly impact the management and care of your child. Please ensure you discuss these options with your healthcare provider to make informed decisions for your pregnancy.
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