Spinal Muscular Atrophy Screening Prenatal Test
Overview
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by mutations in the survival motor neuron 1 (SMN1) gene. Prenatal screening for SMA involves testing the fetus or the parents to determine the risk of the child being affected by the condition.
Test Details
The Spinal Muscular Atrophy screening prenatal test can be done with a doctor’s prescription. However, it is not applicable for surgery and pregnancy cases or people planning to travel abroad. The test is performed using the MLPA method in the Genetics department.
Test Name:
Spinal Muscular Atrophy screening Prenatal Test
Components:
- Sterile container
- Sterile Normal Saline Container
- EDTA Vacutainer (2ml)
Price:
2250.0 AED
Sample Condition:
Amniotic fluid / Chorionic villi / Cord blood
Report Delivery:
7-10 days
Method:
MLPA
Test Type:
Genetics
Doctor:
Oncology
Screening Options
There are different screening options available for Spinal Muscular Atrophy:
- Carrier screening: This is done by testing the parents to determine if they carry a mutation in the SMN1 gene. If both parents are carriers, there is a 25% chance of having an affected child.
- Prenatal diagnosis: If both parents are carriers or have a family history of SMA, prenatal diagnosis can be performed to determine if the fetus is affected. This can be done through chorionic villus sampling (CVS) or amniocentesis, which involve taking a sample of cells from the placenta or amniotic fluid, respectively, for genetic testing.
- Non-invasive prenatal testing (NIPT): NIPT is a screening test that analyzes the fetal DNA present in the mother’s blood. It can detect certain genetic conditions, including SMA, by identifying the presence or absence of specific genetic markers. It is important to note that while carrier screening and NIPT can provide information about the risk of having an affected child, they are not diagnostic tests. Prenatal diagnosis through CVS or amniocentesis is the only definitive way to determine if the fetus is affected by SMA.
Conclusion
The decision to undergo Spinal Muscular Atrophy screening during pregnancy is a personal one and should be made in consultation with a healthcare provider. Genetic counseling is recommended to understand the implications of the test results and to discuss the available options.
| Test Name | Spinal Muscular Atrophy screening Prenatal Test |
|---|---|
| Components | Sterile container / Sterile Normal Saline Container / EDTA Vacutainer (2ml) |
| Price | 2250.0 AED |
| Sample Condition | Amniotic fluid \/ Chorionic villi \/ Cord blood |
| Report Delivery | 7-10 days |
| Method | MLPA |
| Test type | Genetics |
| Doctor | Oncology |
| Test Department: | |
| Pre Test Information | Spinal Muscular Atrophy screening Prenatal] can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
| Test Details | Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by mutations in the survival motor neuron 1 (SMN1) gene. Prenatal screening for SMA involves testing the fetus or the parents to determine the risk of the child being affected by the condition. There are different screening options available: 1. Carrier screening: This is done by testing the parents to determine if they carry a mutation in the SMN1 gene. If both parents are carriers, there is a 25% chance of having an affected child. 2. Prenatal diagnosis: If both parents are carriers or have a family history of SMA, prenatal diagnosis can be performed to determine if the fetus is affected. This can be done through chorionic villus sampling (CVS) or amniocentesis, which involve taking a sample of cells from the placenta or amniotic fluid, respectively, for genetic testing. 3. Non-invasive prenatal testing (NIPT): NIPT is a screening test that analyzes the fetal DNA present in the mother’s blood. It can detect certain genetic conditions, including SMA, by identifying the presence or absence of specific genetic markers. It is important to note that while carrier screening and NIPT can provide information about the risk of having an affected child, they are not diagnostic tests. Prenatal diagnosis through CVS or amniocentesis is the only definitive way to determine if the fetus is affected by SMA. The decision to undergo SMA screening during pregnancy is a personal one and should be made in consultation with a healthcare provider. Genetic counseling is recommended to understand the implications of the test results and to discuss the available options. |
