Paediatric Genetics

Department of Pediatric Genetics at Amrita Hospital, Kochi is the first of its kind in Kerala. We provide comprehensive evaluation and treatment for children affected with various genetic disorders. We offer the basic chromosomal analysis and metabolic workups for the delineation of genetic conundrums. Another major service we offer is genetic counseling for parents with children affected with genetic problems.

Prenatal diagnosis for couples who are carriers of chromosomal anomalies, single gene disorders, skeletal dysplasias, lysosomal storage disorders and metabolic disorders are the major services offered from our department. We have a close liaison with Fetal medicine, Pediatric neurology, Pediatric cardiology, Pediatric endocrinology and ophthalmology departments at Amrita and with centres of excellence in the Hamburg, Germany and University of Lausanne and Switzerland to provide comprehensive care for our patients with genetic disorders.

• First to administer enzyme replacement therapy to the youngest child in India on day 20 of life for infantile Pompe disease in 2008
• First from India where a patient with Juvenile Pompe disease on enzyme replacement therapy since 16 years of age had gone through a pregnancy successfully at 21 years of age
• First patient in India to receive enzyme replacement therapy for Niemann Pick B disease
• Discovered 11 new genes in collaboration with international researchers
• Using Migalastat for for 4 patients with Fabry disease since 2 years and they are the only four patients receiving this substrate reduction therapy for Fabry disease

Phone: 0484 - 2854050, 0484 - 6684050 

Email: [email protected] 

Expertise: Our seasoned faculty possesses extensive experience in diagnosing and treating rare genetic disorders. We also specialize in providing premarital, preconceptional, and prenatal testing along with counseling services. Our Genetic department has expertise to evaluate patients with rare skeletal dysplasias and early identification of these dysplasias help families to opt corrective surgeries and to seek prenatal diagnosis in subsequent pregnancies. We are the only genetic centre in Kerala offering a skeletal dysplasia clinic for evaluation and counseling.

Comprehensive care: Our institution has a multidisciplinary team comprising experts from various specialties for diagnosing and treating patients with genetic disorders thereby ensuring comprehensive and personalized care for each individual.

Diagnostics: Our institution features an in-house cytogenetics and molecular diagnostics facility, enabling us to provide comprehensive testing services. We specialize in prenatal testing, prenatal genetic counseling ensuring accurate and timely assessments for expectant parents.

Counseling: We provide genetic counselling services for prospective couples (premarital), preconceptional, and prenatal stages. Our counseling covers a range of genetic disorders, including common and rare syndromes, skeletal dysplasias, lysosomal storage disorders, intellectual disabilities, autism, metabolic disorders, and neurological disorders. Periconceptional counseling for couple with children affected with congenital anomalies, intellectual disability and seizure disorder is another key area. Counselling is offered for couple with an ongoing pregnancy with an affected fetus with malformations, skeletal dysplasias, growth retardation or nonimmune hydrops. Another important group needing counselling and prenatal diagnosis are couples with balanced translocation, recurrent miscarriages, single gene disorders and carriers for hereditary cancers.

Diagnostic Services: Our diagnostic capabilities include prenatal testing and genetic testing (Karyotyping, QFPCR, Sanger sequencing) in blood, chorionic villus samples and amniotic fluid. We have a well-equipped cytogenetics and molecular lab offering services like karyotyping (from lymphocyte, bone marrow, skin fibroblasts for ruling out mosaicism), FISH (Digeorge, William, Wolf Hirschhorn syndrome, Prader willi, Angelan syndrome) QFPCR, SMA gene study, DMD genetic study, Methylation specific MLPA for Prader willi and Angelman syndrome, and Beckwith syndrome and Russel silver syndrome, and Sanger sequencing and prenatal diagnosis.

Treatment: We also provide treatment options such as enzyme replacement therapy for five treatable Lysososmal storage disorders (Gaucher disease, Pompe disease, Fabry disease, Hunter syndrome, Niemann Pick B) and bisphosphonate therapy for disorders like Osteogenesis Imperfecta , juvenile osteoporosis and Geroderma osteodysplastica, Treatment for very rare overgrowth syndrome, PIK3 CA mosaics, Dietary modification of patients with Inborn error of metabolism and patients with hypertriglyceridemia

Cancer surveillance: We also provide diagnostic and counselling services for people with familial cancer syndromes. We provide surveillance and diagnostic services for the patients and also for extended family members. Surveillance is also being offered for children presenting with hemihypertrophy as they have increased risk for Wilm’s tumour and these children are being followed up every 3 months till 9 years.

We embrace a multidisciplinary approach, recognising that the complexity of genetic disorders often requires expertise from various medical specialties. Our department fosters collaboration among clinicians in other specialities, researchers from within and with other reputed national and international institutions, and other healthcare professionals to develop comprehensive care plans tailored to each patient's specific needs.

Our genetic counselling and support services ensure that patients and their loved ones feel heard, understood, and supported throughout their journey.

We believe in empowering individuals and families with knowledge, resources, and support to make informed decisions about their genetic health and provide opportunities for families to get connected with other families with similarly affected patients.

Pediatric Genetic services:

• Genetic counseling
• Prenatal diagnosis and counseling
• Characterization of Syndromic Disorders, skeletal dysplasias, intellectual disability disorders and familial cancers for counseling purposes
• Evaluation of primary amenorrhoea
• Evaluation of couples with infertility
• Couples with recurrent miscarraiges are tested for any chromosomal balanced carrier state and other causes
• Huntington’s chorea
• Myotonic dystrophy
• Ehlers Danlos syndrome
• Treatment of patients with PIK3 CA Mosaics
• Suveillance for children with hemihypertrophy
• Diet management for children with Inborn error of metabolism
• Treatment for children with hypertriglyceridemia

Adult Genetic Services:

Clinical diagnosis is offered for adults with genetic disorders and the confirmation of diagnosis is offered with the help of the mutation study

• Evaluation of familial cancers – familial adenomatous polyposis, familial breast cancer, familial colon cancers
• Multiple endocrine neoplasia (MEN 1,2)

Chromosomal Disorders

The most common chromosomal disorder encountered is Down syndrome (Trisomy 21). In this condition instead of the normal 46 chromosomes, the affected people have 47 chromosomes and an additional chromosome 21 is the additional chromosome leading to this condition. The condition usually occurs in babies born to elderly women especially women over 35 years . This is the most common form of Down syndrome, constituting 90-95% ( non-disjunction type). 
Younger couples can also have babies with Down syndrome. Hence, it is highly importat to check the karyotype every child with Down syndrome to classify the type, as around five percent of babies would be having a translocation type of Down syndrome where there is swapping of materials between two chromosomes. The parents of these babies should be karyotyped for detection of translocation in either of them, which would be highly beneficial for the counselling in subsequent pregnancy. Mosaics constitute a small percentage of Down syndrome, where the patient has two sets of chromosomal patterns in their body, one normal and the other with Trisomy 21.

1. Trisomy 21 (Down syndrome)
2. Turner syndrome
3. Klinefelter syndrome
4. Trisomy 13
5. Trisomy 18
6. Translocations
7. Inversions
8. Deletions
9. Duplications
10. Somatic mosaicism 
     

Syndromic Disorders

The delineation of several syndromes according to their clinical features is very important for counselling the parents regarding future intervention programs and for possible prenatal diagnosis in future pregnancies. Some of the common syndromic disorders are:

• Tuberous sclerosis
• Neurofibromatosis Type I
• Noonan syndrome
• Fragile X syndrome
• Cornelia de Lange syndrome
• Prader willi syndrome
• Syndromes with craniostenosis – Apert, Crouzon, Carpenter
• Smith Lemli Opitz syndrome
• Goldenhar syndrome
• Ectodermal dysplasia
• CHARGE association
• VACTRAL anomaly
• Marfan syndrome
• Ellis van Creveld syndrome
• Kabuki make up syndrome
• Russel Silver syndrome
• Syndromes with associated deafness – Usher syndrome, Waardenburg, Pendred, Stickler syndrome
• Neurocutaneous syndromes 
   

Skeletal Dysplasias

This constitutes a group where the children have short stature associated with bony deformities. Having accurate diagnosis is very important, as a few types have specific therapies and it is important for prenatal genetic counselling.

• Achondroplasia
• Hypochondroplasia
• Osteogenesis imperfecta
• Mucopolysaccharidosis
• Lethal and nonlethal dysplasias
• Metaphyseal dysplasias
• Familial rickets
• Spondyloepiphyseal dysplasia congenita
• Cleidocraila dysostosis
• Multiple exostosis
• Ellis van Creveld syndrome
• Fibrodysplasia ossificans progressive
• Pseudoachondroplasia
• Progressive pseudo rheumatoid chondrodysplasia
• Stickler syndrome 
   

Storage Disorders

Children with neurodevelopmental delay or regression with visual or hearing impairment and physical bony deformities constitutes this group

• Mucopolysaccharidosis – Hurler, Hunter, Morquio, Sanfilippo
• Maroteux Lamy syndrome, Sly disease
• Glycogen storage disorders
• Fabry disease
• Pompe disease _ Infantile, juvenile, Adult
• Niemann-Pick Disease A/B/C
• Gaucher disease
• GM1 gangliosidosis
• I cell disease 
   

Neurodegenerative Disorders

• Metachromatic leukodystrophy
• Sialidosis
• Hallervorden Spatz syndrome
• Ataxia Telangiectasia
• Frederich’s ataxia
• Heriditary ataxias
• Spinocerebeallar ataxia
• Heriditary motor sensory neuropathy
• Sandhoff disease
• Tay Sach’s disease 
   

Prenatal Disorders

This group encompasses the most important beneficiaries of this department:

• couples having a previous baby with Down syndrome
• Couples with an affected child with autism
• couples where either of a parent is a translocation carrier
• Couple with an affected Child/ Children for whom the genetic diagnosis or chromosomal disorder has been confirmed
• couples having a previous baby with neural tube defect
• couples with children having mental retardation, storage disorders
• couples having a previous baby affected with spinal muscular atrophy
• Elderly pregnant women, especially over thirty-five years’ old
• couples with neuromuscular disorders in an elder child, like spinal muscular atrophy (SMA) Duchenne muscular dystrophy (DMD)
• couples who are consanguineous and are carriers of enzyme defects eg: Thalassemia
• couples with children affected with sickle cell anemia, pyruvate kinase deficiency
• couples with babies having inborn errors of metabolism: Phenyl ketonuria, methyl malonic academia, glutaric aciduria, propionic academia, urea cycle disorders, citrullinemia, OTC deficiency
• couples with children affected with neurodegnerative disorders (Tay Sachs’s disease, Sandhoff disease, Krabbe disease, MLD
• couples with a history of recurrent miscarriages and those who have conceived following the treatment for infertility 
   

Familial cancers

• Women who are < 40 years with breast cancer, history of breast cancer in first degree relative
• Colon cancer or pancreas cancer in multiple relatives
• Two family members affected with rare cancer
• Siblings affected with breast and ovarian cancer
• Cancers in two different systems in same individual
• Retinoblastoma in children 
   

• Karyotyping and FISH for Chromosomal Disorders
• Sanger sequencing and MLPA for gene disorders
• Prenatal Diagnosis for Syndromic Disorders and chromosomal anomalies
• Chorionic villus sampling and Amniocentesis in collaboration with fetal Medicine department

• Enzyme replacement therapy for Pompe disease, Fabry disease, Hunter syndrome and Gaucher disease, Niemann Pick B disease
• Bisphosphonate therapy for Osteogenesis Imperfecta, Juvenile idiopathic osteoporosis
• Treating patients with extremely rare overgrowth syndromes, PIK3CA mosaics
• Diet treatment alone for treating Lipoprotein lipase deficiency, a very rare cause for hypertriglyceridemia

1. One year fellowship program in clinical genetics and genetic counselling for pediatricians
2. Training of residents  from Pediatrics, Pediatric neurology, Fetal medicine, Reproductive medicine
3. Training for DM residents in Pediatric Neurology from Government Medical College, Trivandrum on a regular basis for  gaining exposure in genetics

• Collaboration with Prof .Kerstin Kutche of Hamburg University, Germany for rare undiagnosed  disorders
• Collaboration with CDFD ,Hyderabad for whole genome sequencing for rare disorder with negative exome sequencing
• Collaboration with CDFD ,Hyderabad for identifying the genetic cause for congenital hypothyroidism
• Collaboration with Department of Genetics , Manipal University  for  rare  undiagnosed disorders