Pediatric Genetics for a Healthier Generation
Fortunately, most babies are born healthy with no birth defects or medical problems. However, approximately 6% of babies worldwide are born with congenital disorders or birth defects. Some of these anomalies can be detected at birth, but others may remain unnoticed until a child reaches a certain age.
Medical geneticists at Helix Genomix have extensive clinical experience in helping families discover these underlying mutations, provide risk assessment for other family members, educate about future requirements , and possible treatment options.
Who Requires Pediatric Genetic Counseling?
Consider a pediatric genetic counseling evaluation if your child has one or more of the following conditions:
Birth Defects such as Spina Bifida, Brain Malformations, Cleft Palate, or Heart Defects
Learning Disorders and Intellectual Disabilities
Developmental Delays
Abnormal Stature
Autism Spectrum Disorders
Vision or Hearing Disorders
Unusual Physical Features
Muscular Dystrophy or other Neuromuscular Disorders
Neurological Disorders
Abnormal Genetic Test Results
A known or suspected genetic condition
How Can We Help You?
Our pediatric genetic program is tailored based on the individual requirements of each child. In these counseling sessions our geneticists will evaluate your child’s medical and your family history. They will also investigate factors that may indicate an inherited genetic condition.
Our geneticists can also recommend an in-person evaluation of the affected child if required. The presence of one or more genetic disorders can lead to observable physical changes, development delays, growth problems, and learning issues.
During the counseling sessions, geneticists can discuss and suggest relevant genetic testing options if any genetic condition is suspected. With your approval, we can help you order tests and facilitate sample collection.
Once the reports are received, in the post test counseling sessions our team will help you and your family understand these results and also provides recommendations for future disease management.
How Can You Prepare for a Pediatric Genetic Counseling Session?
It is important to gather all the information relating to you and your family members medical history, including parents, siblings, aunts, uncles, grandparents and cousins.
Check with your family members about any history of genetic disorders, birth defects, intellectual disabilities, history of cancer or other chronic conditions, epilepsy or seizures, miscarriage, unusual physical features or abnormal growth patterns.
It is also advised to include pre affected child/family member(s) with a genetic condition in the counseling sessions.
Kindly procure all records of any genetic testing that you or your family members may have had in the past.
You are also requested to prepare a list of questions in advance that you wish to discuss with the geneticist to ensure we address all your concerns.
For more information about pediatric genetic counseling or to make an appointment
91-82888-49988
Our Pediatric Genetic Counseling Session Covers
A personalized genetic risk assessment and supportive counseling by our geneticists based on your personal and family risk factors. This consultation typically takes 60–90 minutes to complete.
You may also be asked to take photos of your child for medical records which are helpful in future consultations as the child gets older.
Thorough review of your child’s medical records and related details which may include specific questions such as pregnancy history, child’s early development details, any learning or behavior problems.
Geneticists may also discuss appropriate genetic testing options ( if needed) on the basis of risk factors and relevant history.
Geneticists will also draw a family tree (“Pedigree”) covering relatives on both sides of the family and ask about the history of any genetic conditions, intellectual disability or birth defects in the families.
Our teams will also assist you in genetic testing of other relatives who may have an increased risk and also facilitate you from ordering the tests to follow up consultations after receiving the genetic test results.
Related Case Studies
How carrier screening of couple ruled out the risk of SMA in children
A couple approached for pre-pregnancy counseling as the husband’s real brother could not walk due to severe muscle weakness and died at
A family with intellectual disability in boys
A pregnant patient had a history of intellectual disability in her nephews. Genetic counseling followed by genetic testing for Fragile X was done on her
Genetic Counseling helped design individualised therapy for children affected with rare disorder Cornelia de Lange syndrome
A couple was worried that their child was not gaining weight and height adequately. They had been visiting multiple doctors for the last 2 years