GENETICS IN FETAL MEDICINE
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 subsequent pregnancy differs significantly between different disorders. Hence couples are provided with detailed and accurate information regarding the recurrence risk after fully 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 work up consists of systematic and stepwise evaluation of the affected child and then the parents to confirm the mutation. Once all information is available, the parents can then plan the next pregnancy with the full information regarding recurrence risk and options for prenatal diagnosis
Almost all genetic disorders that have been 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 exact gene defect that has caused the genetic disorder in the family (previous child, or affected/carrier parents). The reference mutation is found out after a detailed genetic work up done in consultation with a geneticist. Once the reference mutation is available, prenatal diagnosis is possible in all subsequent pregnancies at 12 weeks through CVS. Rarely, amniocentesis would be preferable than CVS. Comprehensive pretest and posttest counselling is provided to the family to understand the pros and cons of prenatal diagnosis.
Fetal Defects Counselling
Parents who are 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, cause of the defect, natural history, how to handle at birth, treatment options during and after birth are provided. Since there is always a potential for classification error, all fetuses diagnosed or suspected to have defect mandatorily undergo a detailed scan here before the counselling. This allows for a highly accurate assessment of the fetus and this information is used for precise counselling.