Overview

List of Faculty

Introduction

In 2002, GMCH through UT Administration received grant under Government of India proposal of disability Prevention and Rehabilitation State Resource Centre to establish an umbrella facility for early intervention, prevention and management of disability. The aim of establishing this Centre was to estimate accurately the incidence of genetic diseases in our population, impart awareness for control of these diseases by genetic counselling to affected families and prevent genetic disorders by early diagnosis to minimize the social burden.

Since its inception the Genetic Centre has been gradually progressing forward in this direction and has introduced various facilities for public at large.

Facilities available at Genetic Centre

Mass Screening Programmes

Prenatal and neonatal mass screening programmes play a significant role in achieving the objective of control of genetic diseases, which was kept in purview while establishing the genetic centre and already form an integral part of health care in all developed countries. The mass screening programmes are excellent examples of the superiority of the prevention based approach compared to the traditional treatment based management. These programmes are also cost effective within the health care system and cost beneficial to society, as the cost of screening, diagnosis and treatment during the asymptomatic phase is outweighed by saving in human misery and fiscal expenditure.

Through these programmes certain genetic disorders can be picked during pregnancy, while some inborn errors of metabolism can be picked within 24-72 hours of birth. Together, these two programmes can play a significant role in preventing physical and mental handicap. Keeping in view the significance of prenatal and neonatal mass screening, these programmes were initiated in U.T at Genetic Centre, GMCH, Sector-32. The mass screening programme is first of its kind to be launched in any government set up in India.

1. Prenatal Screening Programme

2. Neonatal Screening Programme

Prenatal Screening Programme

Prenatal Screening Programme The birth of a healthy and cheerful baby is one of the most joyful moments in the life of a couple. This happy event can get transformed into a tragedy if the newborn is found to have a major physical or mental handicap.

 Some of these defects cannot be detected at an early stage during pregnancy with routine physical examination of the pregnant women. A variety of genetic screening tests are now available that can be carried out on the mother’s blood during the early stage of pregnancy. These simple and painless tests can help us to pick up high risk pregnancies for chromosomal disorders and neural tube defects. Prenatal screening at Genetic centre was stated in 2007.

What is Prenatal Screening?

Prenatal screening is science of identifying mothers at risk of having structural and functional abnormalities in the developing fetus. It can be done through mother’s blood or through an ultrasound. Prenatal Screening Programme now forms part of health care in almost all developed countries, where systematic health care is available.

When should these tests be done?

Prenatal screening of maternal blood is done twice during pregnancy:-

• Dual Test: 11th -13+6th week of pregnancy
• Triple Test: 16th – 18+6th week of pregnancy

Under this program all pregnant women within the window period for Dual and/or Triple test can get their blood test done for detection of possibility of certain chromosomal and neural tube defects in their fetus. This test can pick up pregnant women who are at a high risk of carrying fetus for above-said disorders.

Patients from other hospitals

All pregnant women regardless of whether they are a patient of Government Medical College & Hospital, Sector 32, can come directly to Genetic Centre and get their test done. These women can pursue their antenatal check up as per their convenience with any Gynaecologist. However, the high risk pregnant women are further counselled and managed by the Genetic Centre in association with Department of Gynaecology, GMCH.

 

A nominal rate is being charged each for Dual Test and Triple test for patients of GMCH-32 so that all income groups can avail this facility.

How is the result interpreted?

The results are interpreted in the form of ratios. Through prenatal screening if the risk at any age is calculated to be approximately 1:250, it would command a level II ultrasound for all softmarkers followed by invasive confirmatory test. With increasing age this risk rises significantly. Thus prenatal screening helps us to pick up patients who are at increased risk of carrying abnormal babies despite their younger age.

What are the options for high risk patients?

These couples are counselled for the probability of the defects in their fetus along with the false positive and false negative possibilities of the test. They are further counselled for non-invasive (NIPT) Pregnancy Test and confirmatory invasive tests.

What are the invasive tests available for confirmation?

The invasive tests are in the form of chorionic villus sampling in early pregnancy, amniocentesis in mid pregnancy for karyotyping.

Neonatal Screening Programme

All parents dream to have a healthy normal baby. Most of the babies remain healthy, but some may have a disorder, which may lead to a life threatening situation where survival becomes difficult and others may develop physical and mental disability.

Neonatal (Newborn) screening is the most modern public health preventive population-screening programme in all the developed countries. Sooner or later, the developing countries will have to initiate efforts in this direction as newborn screening is also cost effective within the health care system and cost beneficial to society in that the cost of screening, diagnosis and treatment during the asymptomatic phase is outweighed by saving in human misery and fiscal expenditure.

Now with the advances in technology and knowledge in genetics, much attention has been focused on screening for preventable causes of disability and death in newborn babies. The major objective of screening newborn babies at birth is to find the incidence and diagnosis of certain disorders as soon as possible after birth, so that effective treatment can be provided and resulting disability reduced or prevented.

What is the purpose of newborn screening?

The purpose of newborn screening is to test newborns for selected disorders, which are prevalent in Indian population. The disorders tested are those for which early diagnosis and treatment can prevent serious medical and neurological condition that may pose a threat to life or can lead to physical and mental handicap.

My baby looks quite normal at birth. Are the tests still necessary?

Yes, these tests are necessary because most infants with metabolic disorders show no obvious sign of disease immediately after birth. In metabolic disorder, there is an invisible problem in one of the metabolites, which are produced in the body during normal metabolic processes. These defects may later lead to disease symptoms a few days or weeks after birth.

 Under the mass neonatal screening programme, presently, three disorders are being screened at Genetic centre:-

1. Glucose-6-phosphate dehydrogenase deficiency

2. Congenital Hypothyroidism

3. Congenital Adrenal Hyperplasia

All the babies born in 5 major hospoital of UT CHD, i.e, GMCH-32, Government Multi Specialist Hosopital-16, Community Civil Dispensary-22, Civil Hospital-45 & Civil Hospital-Manimajra are screened. This programme is running since April, 2015 and all the babies born in these hospitals are covered under it with samples being collected on all days including Sundays/gazetted holidays. The blood samples are taken at 24 hours of birth after counselling the parents regarding the significance of getting these tests done, followed by a written consent from the parents.

 

 

An additional service for screening of Galactosemia, Phenylketonuria, and Biotinidase deficiency is being offered for sick newborns or in suspected cases. Presently, the facility of neonatal screening for glucose-6-phosphate dehydrogenase deficiency, congenital hypothyroidism and congenital adrenal hyperplasia is being offered free of cost to all the babies born in UT, CHD.

How are the tests done?

After birth within 24-48 hours, 2-3 drops of blood are collected from the heel of the baby on a special graded filter paper for necessary tests.

What needs to be done if screening test is positive?

The babies detected positive in the screening programme are referred to the concerned Paediatrician for further confirmatory tests, care and management.

CYTOGENETICS (karyotyping)

Cytogenetic approaches to studying chromosomes and their relationship to human disease have improved greatly over the past few decades. Whenever a clinician suspects a patients’ disease is due to a chromosomal abnormality, the clinician should consider a cytogenetic analysis. Cytogenetic analysis by karyotyping technique is being carried out at the Genetic Centre. These tests are performed on peripheral blood. Patients can be referred to the Genetic Centre for cytogenetic analysis for diagnosis of suspected chromosomal abnormalities in following clinical conditions;

• Mental retardation
• Delayed milestones
• Autism spectrum disorder
• Abnormal clinical phenotype or dysmosphism
• Clinically significant abnormal growth- short stature, excessive growth, microcephaly, macrocephaly
• Ambiguous genitalia
• Congenital malformations, history of still birth of unknown etiology
•  Recurrent spontaneous abortion
•  Amenorrhea
•  Infertility of unknown etiology
• Other chromosomal defects, ie., aneuploidies and structural rearrangements

Note: Cytogenetic analysis done only on prior appointments.

Molecular Diagnosis

What is Genetic Testing?

Genetic testing is the analysis of information in the DNA of an individual. There are a number of different types of genetic tests and the type of genetic tests carried out will depend on the type of DNA change being tested for and also the type of genetic condition in question.

How is Testing Done?

Genetic testing usually involves taking a sample of body tissue. The type depends on the particular test and may include blood, cells obtained from the lining of the cheek or the cells in the roots of an individual’s hair, amniotic fluid or cells from chorionic villi sampling in pregnancy as well as a variety of body fluids and tissues.

Why consider a Genetic Test?

a) Diagnosis

Genetic testing can be used to diagnose conditions at all stages of life, from conception to the very end of life.

b) Genetic carrier testing

People can also be genetic carriers of variations in genes without showing any signs or symptoms of a genetic condition. However if both parents are genetic carriers of the same mutation, there is a chance that their children may be affected by a genetic condition.

c) Genetic carrier screening

Genetic carrier screening is a direct gene test applied to a whole population or to a defined group. For example, genetic carrier screening may be available for people in the population who have no personal or family history of a condition but who have a greater than average chance of carrying a particular variation due to their ancestry.

Molecular Biology Tests done at Genetic Centre

PCR based molecular tests for detection of various genetic disorders viz., DMD, SMA, Thrombophilia, are being done, in addition test/screening for β-Thalassemia is being established. The DMD test was initiated in 2013-2014, where as SMA, Thrombophilia were initiated in 2016 and β-Thalassemia is establishing in 2019.

Spinal Muscular Atrophy (SMA) is the one of genetic killer of infants and toddlers. It is one of the most common autosomal recessive monogenic disorder caused by mutations in both copies of the SMN1 gene located on chromosome 5. SMA is reported with a prevalence of 1 in 6000-10,000 affected live births and 1/40-1/60 carrier frequency. PCR based mutation analysis of exon 7 and 8 is being done for detection of its severe form SMA I.

Thrombophilia is an abnormality of blood coagulation that increases the risk of thrombosis and causes Recurrent Pregnancy Loss (RPL). The prevalence of thrombophilia among Indian population is 2.5%. There is strong association between thrombophilia with RPL. The 3 gene mutations in relation to RPL are being done for thrombophilia genetic testing. These are as follows:

1) Factor V Leiden

2) Prothrombin

3) MTHFR gene- 2 mutations of MTHFR gene are being done-

I) C677T

II) A1298C

The patients which have 2 or more consecutive miscarriages are the suspected one. This mutation leads to enhance blood coagulation and is involved in folic acid metabolism which influences DNA methylation. MTHFR gene mutation is also associated with Autism spectrum disorder (ASD) and Fragile X syndrome.

Duchunne Muscular Atrophy (DMD) is an X-linked genetic disorder caused due to mutation in the dystrophin gene. This gene is one of the largest known gene with 79 exons, which localized at Xp21.2. DMD is the most common fatal genetic condition with prevalence of about 1 in 3600-9337 live male births worldwide. DMD gene analysis is being done in suspected patients referred to Genetic Centre for most common 25 exons of hot-spot region. It is the confirmatory genetic test for detection of DMD disorder.

Thalassemia is an inherited disorder that affects the production of normal haemoglobin. It is caused either due to a genetic mutation or deletion of gene fragments. Thalassemia includes a number of different forms of anaemia. The severity and type of anaemia, including the beta thalassemia, depends on the number of genes that are affected. Thalassemia is inherited, means people with thalassaemia minor have a 50% chance to pass the gene to their offspring. Family history and ancestry are factors which increase the risk of beta thalassemia. Depending on family history, if a person’s parents or grandparents had beta thalassemia major or intermedia, there is a 75% probability of the mutated gene being inherited by an offspring. Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. At Genetic Centre beta globulin gene mutation analysis is being established for 5 common and 7 rare mutation responsible for beta thalassemia.

 

Time taken for Molecular Tests and its reporting

Molecular genetic tests for various disorders done at Genetic Centre are available at nominal rates (Rs. 100-400) and testing will take around one month for complete molecular reporting. The patients referred from various departments of GMCH to Genetic Centre, J-Block for molecular testing. Some patients from other hospitals are also referred for these tests to Genetic Centre.

How is the result interpreted?

The reports are being given as the mutation is either present or absent. These molecular tests are confirmatory screening test which presented that suspected patients have the particular mutation or not.

Reporting

The reports of molecular tests such as DMD, SMA and Thrombophilia are available in around one month of sampling and can be collected from Genetic Centre J Block (for patients from GMCH as well as for outside patients).

Genetic counselling at Genetic Centre

Unlike other medical analysis, all genetic tests, including cytogenetic studies, have broader implication on a psychological, social and reproductive level. Therefore, genetic testing results must be counselled by a medical doctor or a scientist trained in the genetics field in order to ensure appropriate expert counselling before and after testing.

Genetic test results can be hard to understand, however specialists like geneticists and genetic counsellors can help explain what results might mean to you and your family. Genetic counselling conveys medical and genetic facts to an affected family in a way that can be easily understood.

The aim of prenatal counselling is to give the patient all the necessary information regarding the tests being conducted and the results that will help the patient to reach to an informed decision. Genetic counselling conveys medical and genetic facts to an affected family in a way that can be easily understood by them. Counselling is done in language comprehended by her and explained in easy manner. Patients are told about Dual & Triple tests and explained how these tests could help them to understand estimate the risk of having a child with chromosomal disorders and neural tube defects which may lead to mental retardation and physical disability.

Pregnant lady is enrolled under Prenatal Screening program and Lab ID is given, which will further used as her identity. Prenatal screening consent form is duly filled with details of demographic data, previous and present clinical history, family history and medicines taken during pregnancy. Simultaneously PNDT’s D & E forms are filled with all details. Signature of pregnant lady is taken on consent from as well as PNDT forms. After completion of documentation, approximately 5-6ml venous blood sample of pregnant lady is collected in prelabelled vacutainer with name and LAB ID number.

Post Test Genetic Counselling

The pregnant ladies of high risk group are counselled at Genetic Centre by Consultant/ Demonstrator. Dual test high risk pregnant ladies are referred for NT scan and revaluation of report is done with latest NT scan values and referred for the triple test. Triple test high risk pregnant ladies are referred for Level II USG. After Level II USG, reassessment of reports are done as per scan and clinical history, then pregnant lady is referred to respective gynaecologist for further evaluation and management and confirmatory tests if needed.

 Genetic Counseling involves a communication process that incorporates elicitation of a detailed personal and family history, risk assessment, a discussion of the genetic testing, options available and the interpretation of the results all of which play a fundamental role in helping patients make a personal informed choice.

Information gained after attending genetic counselling

The patients will be able to get reply of following question, once they are counselled at Genetic Centre;

- What are the tests available at Genetic centre?

- What is prenatal screening?

- What is the importance of Prenatal and newborn screening?

- Why should a mother be screened?

- How are results interpreted?

- Are there any treatments or cures?

- Could this disorder have been prevented? - What are the options for high risk population?

- Can this individual have children in the future? Will those children be affected?

For further Information, Please Contact:

Genetic Centre, J Block

Government Medical College & Hospital

Sector 32, Chandigarh,160031

0172-250102-1013

Email : centregenetic@gmail.com

Research Activities

Research Projects

• Prenatal Screening to assess Prevalence of congenital malformation in Mohali Punjab: Prevention based approach to improve the reproductive health of SC women in Punjab
• Consensus definition of body mass index for North Indian population: Correlation with adverse pregnancy outcome and metabolic profile of neonate

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