Genetic Sciences

• Autism / ADHD (Attention deficit hyperactivity disorder)
• Developmental delay / intellectual disability
• Hypotonia (like Spinal Muscular Atrophy)
• Epilepsy / Seizures
• Neuroregression
• Ataxias
• Choreas and Dystonia (like Huntington’s Disease)
• Muscular Dystrophies (like Duchenne’s Muscular Dystrophy)
• Myopathies and Neuropathies (like Charcot Marie Tooth Disease)
• Myotonic dystrophies
• Microcephaly

This includes congenital abnormalities which may be present externally or internally like:

• Craniosynostosis
• Cleft lip, palate
• Ear anomalies like microtia (small ear), ear tags etc.
• Polydactyly (presence of extra fingers)
• Congenital heart disease
• Congenital talipes equino varus (CTEV)/club foot
• Kidney anomalies like hydronephrosis, cystic kidneys, single kidneys etc.
• Spinal defects like spina bifida, kyphosis, scoliosis etc.

A child/ person is said to be dysmorphic when he/she looks different. A large number of genetic syndromes can lead to dysmorphism and the clinic offers comprehensive evaluation for all. A few examples include Down syndrome, Prader Willi syndrome, William syndrome, Cri du chat etc.

Metabolic disorders are usually under-recognised and can present as vomiting, refusal to feed, respiratory distress, convulsions, sudden lethargy, jaundice, hepatosplenomegaly, developmental delay, neonatal deaths. Some disorders like the lysosomal storage disorders lead to significant disability.

The clinic offers testing and management of all metabolic disorders like:

• Urea cycle defects
• Organic acidemias
• Fatty acid oxidation defects
• Lysosomal storage disorders like mucopolysaccharidosis (MPS), oligosaccharide storage disorders (like Tay Sach’s, GM1 gangliosidosis, mucolipidosis etc.)
• Glycogen storage disorders.
• Congenital disorders of glycosylation
• Mitochondrial disorders etc.

• Abnormalities in biochemical screening for chromosomal aneuploidies like Trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), trisomy 18 (Edward syndrome) and Triploidy. Non Invasive Prenatal Testing (NIPT) facilities are available.
• Anomalies/ abnormality detected on fetal ultrasound examination: Testing, counseling and management of anomalies detected on fetal ultrasound including intrauterine growth retardation (IUGR).
• Invasive Prenatal testing (CVS-Chorionic villous sampling/Amniocentesis/Cordocentesis): Prenatal diagnostic testing in families with previously established genetic disorders.
• Teratogenicity: Advice and prognosis regarding drug and radiation teratogenicity and effects of underlying maternal illness on the fetus.
• Fetal examination and genetic opinion after termination (Plan to start a genetic fetal autopsy program soon).
• Recurrent pregnancy loss.

• Congenital cataract
• Retinitis pigmentosa
• Congenital glaucoma
• Leber’s amaurosis
• Cone rod dystrophy
• LHON (Leber hereditary optic neuropathy)

• Albinism
• Epidermolysis bullosa
• Icthyosis
• Xeroderma pigmentosum etc.

• Thalasemmias
• Sickle cell anemia
• HLH etc.

• Leukemias
• Breast cancer
• Colon cancer
• Breakage syndromes like ataxia telangiectasia, bloom syndrome etc
• Counseling, risk assessment, predictive testing ,screening and risk reduction for individuals with a family history of cancer.

These include both numerical as well as structural abnormalities like trisomies, monosomy, tirploidy, translocations, inversions, insertions etc. When present in an unbalanced form they could lead to infertility, recurrent pregnancy loss, children with delay in development or malformations as well as lead to cancer. We offer both basic as well as advanced testing facilities like microarray in order to characterize the underlying abnormality and guide the family.

Assessment is available both for short stature due to inherited problems in growth hormone production and function as well as disproportionate short stature which is due to an abnormality in the skeletal development. Some examples of skeletal problems and short stature syndromes that we deal with include:

• Achondroplasia
• Hypochondroplasia
• Lethal skeletal dysplasias
• Morquio disease
• Growth hormone deficiency
• Syndromic short stature like Seckel syndrome, Rubinstein Taybi syndrome and others

Did you know that a host of genetic diseases can lead to failure to thrive (poor weight and height gain) ? A few of the genetic conditions which can lead to failure to thrive include:

• Cystic fibrosis
• Chromosomal abnormalities
• Metabolic disorders
• Renal tubular disorders
• Celiac disease

Who should avail preconceptional counseling :

A) Couples with a history of a previous affected child/ family member/ partner with any of the following :

• Suspected or known genetic disorder ( an example of these conditions is cited above)
• Congenital malformation
• Intellectual disability
• Sudden deaths in neonatal or adult life
• Recurrent fetal losses
• Cancer

B) Consanguineous unions

Consanguinity leads to an increased incidence of genetic disorders as compared to the baseline risk. Risk assessment (judged from a detailed family history) and options for carrier screening shall be discussed to guide reproductive decisions.

C) All couples before planning a pregnancy :

Did you know that certain disorders like thalassemia, spinal muscular atrophy and fragile X are common in the Indian population? Screening for these disorders can prevent the birth of affected children as most of these conditions do not have a cure or if cure is available it is expensive. Screening for certain infectious diseases before pregnancy can avoid fetal malformations. Congenital malformations like neural tube defects can also be avoided by pre-pregnancy care.

Pre-marital counseling :

A family history of an affected individual leads to concerns in the prospective bride or groom. This session is aimed at clarifying the type of disorder in the family, understanding whether it has a genetic basis and reviewing the risk of the individual (prospective match) in concern. It aims at establishing the status of the individual, understanding whether there are reproductive risks, discussing the available options of management when necessary and allaying familial anxiety.