Department of Genetic Centre

Started in 2006

The Genetic Centre at Government Medical College & Hospital was inaugurated by His Excellency, Hon’ble Gen (Retd.) S. F. Rodrigues, Governor of Punjab and Administrator U.T, Chandigarh on the 4^th of December, 2006. The major objectives of establishing this facility was to estimate accurately the incidence of genetic diseases in our population, impart awareness for control of these diseases by genetic counseling 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 prenatal and neonatal screening and diagnostic tests.  

            Ø       Facilities available at Genetic Centre

1.        Mass Screening Programmes   t1

• Prenatal Screening Programme

• Neonatal Screening Programme

2.        Karyotyping Facilities

• Peripheral Blood

• Amniotic Fluid

• Fetal Heart Blood

3.        Genetic counseling

Ø        Research Activities

      Ø       Download Brochures  t2

      Ø       Picture Gallery

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

 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.

 What is Prenatal Screening?

 Prenatal diagnosis is the art and science of identifying structural and functional abnormalities in the developing fetus. Prenatal Screening Programme now forms part of health care in almost all developed countries, where systematic health care is available. Their unquestioned success makes them an excellent example of the superiority of the prevention based approach compared to the traditional treatment based management being used in developing and under-developed countries.

 Prenatal screening includes tests which are undertaken on the pregnant women to examine the fetus for chromosomal disorders and neural tube defects. These tests may be physical in the form of an ultrasound or diagnostic in the form of blood tests on a small amount of mother’s blood. At different stages during the development of the fetus, there are different biomarkers that need to be evaluated to ensure baby’s health.

 Prenatal Screening at Genetic Centre

Prenatal Screening Programme was initiated in January, 2007 to pick up high risk pregnancies for chromosomal aneuploidies and neural tube defects.

 Window period for Prenatal Screening

Prenatal testing is done twice during pregnancy:-

§          Dual Test: 11^th -13^th week of pregnancy

§          Triple Test: 16^th - 20^th 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 Center and get their test done. These women can pursue their antenatal check up as per their convenience with any Gynecologist. However, the high risk pregnant women will be further counseled and managed by the Genetic Center in association with Department of Gynecology, GMCH.

 Charges

Presently 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.

 Reporting

      The reports of Triple Test are available within a week of sampling and can be collected from Obstetrics & Gynecology OPD (for patients from GMCH) and from the Genetic Centre for outside patients.

 What are the options for high risk patients?

These couples are counseled for the probability of the defects in their fetus along with the false positive and false negative possibilities of the test. They are further informed regarding the available 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 and amniocentesis in mid pregnancy for karyotyping.

Genetic Counseling for Prenatal Screening

 Genetic counseling conveys medical and genetic facts to an affected or potentially affected family in a way that can be easily understood. The patient will be asked relevant questions about one’s family tree, ethnicity, any medical disorders, medications and significant history of previous genetic disorders in family.

 The accuracy and appropriateness of prenatal diagnosis, genetic screening and other tests can vary depending on individual health and family history. The aim of antenatal counseling is to give the patient all the necessary information that will help the patient to reach to a decision. The goal is to ensure that you and your family are comfortable with the decision and that you feel you made an informed choice without any guilt at a later stage.

 For further Information, Please Contact:

Genetic Centre

Government Medical College & Hospital

Sector 32, Chandigarh,160031

0172 -2665253, 2665545-49 (Ext. 1013)

Email : geneticlabgmch@yahoo.co.in

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.

 What is the purpose of newborn screening?

The purpose of newborn screening is to test newborns for selected disorders, which are prevalent worldwide and may be prevalent in Indian population also. 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.

 How are the test 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. This test is also called Guthrie’s test.

 Disorders Screened under Neonatal Screening at Genetic Centre  

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

1.        Glucose-6-phosphate dehydrogenase deficiency

2.        Congenital Hypothyroidism

3.        Congenital Adrenal Hyperplasia

All the babies born in the Government Medical College & Hospital are screened. This programme is running since May, 2007 and all the babies born in the hospital 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 counseling 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 Cystic Fibrosis is being offered for sick newborns or in suspected cases.

 Charges for the Neonatal Screening

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 Government Medical College & Hospital.

The facility can be extended to neonates from other hospitals at a nominal charge.

 For Private Hospitals/Nursing Homes

In keeping with the main objectives of establishing a Genetic Centre and making mass screening facility available, the Genetic Centre, GMCH would be keen on extending the services for all babies born at private hospitals and nursing homes at nominal charges.

 For further information regarding this hospitals/nursing homes may get in touch with the Incharge or Consultant Incharge of Genetic Centre. 

 What needs to be done if screening test is positive?

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

 For further Information, Please Contact:

Genetic Centre

Government Medical College & Hospital

Sector 32, Chandigarh,160031

0172 -2665253, 2665545-49 (Ext. 1013)

Email : geneticlabgmch@yahoo.co.in

CYTOGENETICS (karyotyping)

Cytogenetic analysis by karyotyping and fluorescence in-situ hybridization (FISH) technique is also being carried out at the Genetic Centre. These tests are performed on peripheral blood, amniotic fluid cells and fetal heart blood. Patients can be referred to the Genetic Centre for cytogenetic analysis for diagnosis of suspected chromosomal abnormalities. Individuals suspected with the following can be referred for karyotyping.

*          Mental Retardation and Delayed Milestones

*          Congenital malformations

*          Recurrent spontaneous abortion

*          Amenorrhea

*          Other chromosomal defects

              NOTE:  Cytogenetic Analysis done only on prior appointment

 For further Information, Please Contact:

Genetic Centre

Government Medical College & Hospital

Sector 32, Chandigarh,160031

0172 -2665253, 2665545-49 (Ext. 1013)

Email : geneticlabgmch@yahoo.co.in

GENETIC COUNSELING

 Genetic counseling is provided to families visiting Genetic Centre with various Genetic Disorders.  These families are helped and if needed referred to AIIMS or Sir Ganga Ram Hospital, for further confirmatory diagnosis and management. The process of genetic counseling is especially significant since a genetic counselor offers information to the patient of relatives of the patient at risk of a disorder, in an easily understood manner and is advised of the consequences of the disorder, the probability of transmitting it, the ways in which this may be prevented, avoided or managed.

 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.

For further Information, Please Contact:

Genetic Centre

Government Medical College & Hospital

Sector 32, Chandigarh,160031

0172 -2665253, 2665545-49 (Ext. 1013)

Email : geneticlabgmch@yahoo.co.in

Research Activities

Schizophrenia:  

      An ICMR approved project on Schizophrenia entitled ‘Evaluation of Antioxidant Status and Lipid Peroxidation in Schizophrenia patients: Effect of Typical and Atypical Antipsychotics’ is currently running at Genetic Centre.

Guide:                                            Dr.Gurjit Kaur

Reader, Dept. of Physiology

Consultant Incharge, Genetic Centre

GMCH, Sec 32, Chandigarh

Co-Guide:                           Prof. B.S.Chavan

Head, Dept. of Psychiatry,

Incharge, Genetic Centre,

GMCH, Sector 32, Chandigarh 

Download Brochures
Prenatal Screening	Part-I	Part-II
Neonatal Screening	Part-I	Part-II
Phenylketonuria	Part-I	Part-II
Galactosemia	Part-I	Part-II
Fragile X	Part-I	Part-II

For further Information, Please Contact:

Genetic Centre

Government Medical College & Hospital

Sector 32, Chandigarh,160031

0172 -2665253, 2665545-49 (Ext. 1013)

Email : geneticlabgmch@yahoo.co.in

Picture Gallery