Ravi and Swati, a non-consanguineous couple lost one child on the 52nd day of life. The baby was suspected to be affected with maple syrup urine disorder. Maple syrup urine disease (MSUD) is an inherited genetic disorder in which the body is unable to process certain amino acids properly, resulting in a severe neurological disorder which could be fatal.
Unfortunately, the condition could not be investigated further due to the child’s early demise. The couple was advised carrier screening for the presence of the genetic defect.
On analysing the parent’s genome, both of them were found to be carriers of a significant mutation in the DBT gene which is known to cause MSUD.
For their next pregnancy, prenatal diagnosis in the form of chorionic villus sampling at 12-13 weeks was offered. The foetus was found to be unaffected, as the mutations found in the parents was absent in the foetus. The couple continued the pregnancy and were able to prevent a second baby with the same disorder. Thus doing a carrier screening test for the mutations found in the parents was helpful in preventing such disorders in future pregnancies.
Summary
- Carrier Screening Test helped in the identification of the mutation in the DBT gene
- Subsequent prenatal screening for the mutation in the foetus prevented the birth of another child with the same disorder
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MedGenome offers the most accurate Non-Invasive Prenatal Screening Test (NIPT), the Genetic Carrier Screening Test, Preimplantation Genetic Screening/Diagnosis (PGS/PGD) and Product of Conception testing.
Additionally, MedGenome offers an absolutely free, on-demand pre and post-test genetic counseling to all patients.
| Medgenome Claria offer | Test Sample requirements | Required forms | TAT |
Career screening panel package:
|  3ml peripheral blood in EDTA vacutainer or 1 microgram or purified genomic DNA | Relevant clinical information including all the clinical presentations and symptoms | 21 to 28 days |
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