Genetics plays a significant role in development. In some cases, genetic problems may impact the developing child’s current and future growth in the womb. At Fetoscan, we can match the technology with advanced diagnostic analysis to monitor your pregnancy. Under Genetics, we offer the following services:-
Couples faced with the unfortunate situation of a genetic disorder in their child would have many queries, especially regarding the outcome of subsequent pregnancies. Genetic disorders have different patterns of inheritance, and thus the chance of recurrence in the next pregnancy differs significantly between various disorders. Hence couples are provided with detailed and accurate information regarding the recurrence risk after thoroughly reviewing the investigations, three-generation pedigree, and the clinical features of the affected child.
Genetic Work up
We offer comprehensive work up to precisely identify the molecular abnormality that caused the genetic disorder in the child. The workup consists of a systematic and stepwise evaluation of the affected child and then the parents to confirm the mutation. Once all information is available, the parents can plan the subsequent pregnancy with complete information regarding recurrence risk and options for prenatal diagnosis.
Almost all genetic disorders confirmed by molecular testing in the index child can be detected or excluded in the developing fetus through prenatal diagnosis. Prenatal diagnosis of Genetic Disorders requires a ‘reference mutation.’ This refers to the gene defect that caused the genetic disorder in the family (previous child or affected/carrier parents). The reference mutation is found after a detailed genetic work-up in consultation with a geneticist. Once the reference mutation is available, prenatal diagnosis is possible in all subsequent pregnancies at 12 weeks through CVS. Comprehensive pretest and post-test counselling are provided to the family to understand the pros and cons of prenatal diagnosis.
Fetal Defects Counselling
Parents faced with the unfortunate circumstance of their fetus being diagnosed with a defect or suspected defect undergo enormous emotional turmoil. They, along with the family members, have innumerable questions. Accurate and sensitive counselling regarding the nature of the defect, the cause of the defect, natural history, how to handle it at birth, and treatment options during and after birth are provided. Since there is always a potential for classification error, all fetuses diagnosed or suspected of defects must undergo a detailed scan before counselling. This allows for a highly accurate assessment of the fetus, and this information is used for precise counselling.
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