Down syndrome: Diagnosis and Management
A healthy individual is born with 46 chromosomes, present in 23 pairs. The 22 pa...
Manipal Hospitals' Department of Genetics is a collection of state of the art facilities that specializes in genetic evaluations, diagnostics and treatment. The department consists of a team of multi-disciplinary specialists that are experts in clinical biomedical genetics, clinical genetics, genomics and laboratory genetics and pharmacogenetics, all of which are extremely specialised fields of medicine. Medical Genetics is acquiring priority in India and genetic factors are gaining importance in the management of all areas of medical science like cancer, neurological disorders, cardiac disorders and others. These advances will place genetic testing at the front line of diagnostics. We are standing at the beginning of an era that will provide new horizons in human health, precision medicine. It is an approach to patient care that allows doctors to select treatments that are most likely to help patients based on a genetic understanding of their disease.
Department of Medical Genetics at Manipal Hospital Bangalore is one of the oldest centres in India, which was first established in 1998 under the leadership and vision of Dr Sridevi Hegde, Senior Consultant. It has become centre of excellence for genetic services that offers comprehensive clinical genetic services with state-of-art diagnostic laboratory under supervision of Dr Mitesh Shetty, Head of the Department. Department is led by a team of experts with specialised training both in India and abroad like Germany and UK. This team is well supported by talented Genetic counselors, excellent technical staff like Molecular Biologist, Bioinformaticians and Cytogeneticists. We work across departments like Pediatrics, OBG, IVF, Hematology, Neurology, Nephrology, Cardiology and Oncology (cancer) to help diagnose and treat complex genetic disorders that can otherwise be overlooked.
One of the most common genetic medicine procedures used today is in prenatal testing. The two types of prenatal testing procedures are screenings and diagnostic tests. A screening test evaluates the likelihood of the fetus having certain genetic disorders. A diagnostic test takes a sample of cells from the fetus or placenta to determine whether the…Read More
Manipal Hospitals' is equipped with hi-tech genetic labs that are used to diagnose hereditary disorders and the right treatment plans through in-depth analysis of DNA and RNA. The team can detect hereditary disorders even before birth and deploy corrective action at the right time.
An estimate of 3-7% of the general population is expected to be diagnosed as having a recognized genetic disorder.
1 in 100 is the global prevalence for single-gene disorders and 1 in 200 for chromosomal abnormalities at birth
1 in 250 individuals are balanced translocation carriers and are at risk (6 in 10,000) for having a child with a chromosomal abnormality
DID YOU KNOW- The incidence of Down syndrome is 1 in 850 per live birth!
5-10% of all breast cancer cases are hereditary
We offer comprehensive genetic counseling, genetic testing and diagnostic service to individuals and families affected with genetic disorders. Clinical Genetics & Genetic Counseling: It involves the diagnosis, counseling and treatment of individuals and families with heritable disorders, risk assessment, and disease predisposition. Clinical geneticists give advice on appropriate management of the disorders, genetic testing, and reproductive options e.g. the availability of prenatal testing for a specific disorder and risk assessment of individuals and genetic counseling to family members. Common referrals are indicated for the following: Child with multiple congenital abnormalities with/without dysmorphic features Intellectual disability of unknown cause/ Neurological abnormalities Failure to thrive Bad obstetric history, Infertility, Primary amenorrhea Family history of sibling’s death of unknown cause Advanced maternal age Cancer risk assessment Pregnancies with high risk for aneuploidies Diagnostic Services: Karyotyping: It is a test to identify and evaluate the structure and number of chromosomes in a cell. Extra or missing chromosomes can cause problems with a child's growth, development, and body functions. A karyotype test can be done from peripheral blood, pre-natal tissue sample and bone marrow sample. The testing can be useful in following scenarios: History of miscarriages Primary amenorrhoea /infertility Disorder of sexual differentiation Leukemia like CML, AML, MDS etc. Fluorescent in- situ hybridization (FISH): It is a rapid technique which is used to assess the gain or loss of chromosomal segment. It is used for the detection of aneuploidy/ or to identify chromosomal translocation in cancer. This technique is commonly used to for following: Chromosomal aneuploidies – For major chromosomes (13, 18 & 21) Chimerism – Sex chromosomes Microdeletions – Syndromes such as Di-George, Angleman/ Prader-Willi, Williams-Beuren Syndrome Oncology – BCR-ABL, PML-RARA, MDS Panel, HER2-neu etc. Prenatal Diagnosis (PND): It is a diagnostic test in which a fetal sample (chorionic villi/amniotic fluid/cord blood) is taken out from the fetus and chromosomal/ known mutation testing in family can be offered in order to identify the wellbeing of the fetus. These testing are used to identify fetus for: Chromosomal abnormalities like Downs’s syndrome, Edwards ‘syndrome, etc. Structural abnormalities, where parents are carrier for balanced translocation F/H/O Single Gene disorders: such as Thalassemia, Sickle cell anemia, Spinal muscular atrophy, Duchene muscular atrophy etc. Non-Invasive Prenatal Screening (NIPS): Is a DNA test on maternal blood to screen pregnancies for the most common fetal chromosome anomalies: trisomy 21 (Downs syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).The reliability of NIPS test results are 99%. This is a safer test which doesn’t possess any significant health risk to fetus or mother. Biochemical Screening in Pregnancy: These tests (Double test, Quadruple test and Pre- Eclampsia) help to screen the fetus for Down's syndrome and mother for preeclampsia. Biochemical screening for pregnant women at Department of Medical Genetics is certified by Fetal Medicine Foundation (FMF), making its reports authentic and acceptable across the globe. First trimester screening (Free - hCG and PAPP-A) between 10 to 13 weeks 6 days Second trimester screening (AFP - hCG, unconjugated estradiol and Inhibin A) between 14 to 20 week, 6 days Pre-Eclampsia Screening (PAPP-A and PLGF) between 11 to 13 week 6 days New Born Screening: It aims to screen the neonate’s for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth. Early detection, diagnosis, and intervention can facilitate life-saving treatments and prevent progression towards a disability. Newborn Screening at Department of Medical Genetics is a part of external quality assurance program at Center for Disease Control and Prevention (CDC), USA. The testing includes common seven parameters namely: Congenital Hypothyroidism Congenital Adrenal Hyperplasia Galactosemia Cystic Fibrosis G6PD deficiency Biotinidase deficiency Phenylketonuria Chromosomal Microarray: Latest high-throughput technology, which enables us to analyze the chromosomes at a greater depth, 100 times as compared to conventional karyotype. It has been recommended by International consortiums and become the first line diagnostic test for post natal and pre natal conditions: Pre natal/Abortus: Fetus with congenital abnormalities on Ultrasound scans Post natal: Child congenital birth defects, intellectual disability, autism, dysmorphism etc. Next Generation Sequencing (NGS): Which allows sequencing of multiple genes at the same time, has dramatically accelerated the pace of management of cancer, Neurological disorders, inherited disorders and high density HLA typing. Clinical Exome, Whole Exome and Whole Genome sequencing for patients help in identifying the cause when diagnosis is not clear. Testing allows its broad application to diverse areas which are listed below: Oncology: BRCA1/2 gene testing, Hereditary cancers, Colorectal cancer etc. Neurology: Seizures disorders, Muscular dystrophy, Nephrology: Polycystic kidney diseases, Alport Syndrome etc. Hematology: Fanconi anemia, Leukemia etc. Cardiology: Cardiomyopathy, Channelopathies, Aortopathy etc. ENT disorders: Congenital Deafness etc. Molecular studies: We utilize various conventional molecular techniques like PCR, RFLP, qPCR, MLPA and Sanger sequencing for the identification of common single gene disorders like beta-thalassemia, spinal muscular atrophy, Duchene muscular dystrophy, Cystic Fibrosis, Fragile X, Achondroplasia, Y-chromosome micro deletion etc. Pre-implantation Genetic diagnosis/screening (PGD/PGS) which is IVF + Genetic study, screening for known genetic disease in the family and chromosomal abnormality in the embryo. This helps in prevention of genetic disease and increases IVF success rate. In this technique, a healthy embryo is screened and implanted in uterus. When an embryo is screened for chromosomal abnormality it is known as PGS/ when it is screened for known genetic disease in the family it is known as PGD.
Normally, genetic testing is done for expected newborns in their fetal stage, or when a hereditary disorder is suspected in a patient. In the first visit, genetic screening is done to evaluate the chances of a hereditary disorder being present.
History of genetic disorders in the family Parents taking certain medications at the time of conception Age of the mother during childbirth (the higher it is, the greater the risk of abnormalities)
Physical abnormalities (enlarged, misshapen or unusually shaped ears, eyes, and facial features) Learning disabilities Multiple losses in pregnancy through infant deaths, stillbirths or miscarriages.
In most cases, knowing about the risks of genetic disease can help prevent them. Before conception, prospective parents are advised to take a Carrier Genetic Test (CGT) to check gene compatibility and to assess the risk factors to the child they are trying to conceive. If the results of the test are not favorable, Preimplantation Genetic Diagnosis (PGD) can help them conceive a healthy child.
Genetic disorders are known to lie dormant among many individuals. This means that they carry the abnormal gene, but it is not active in the person. The abnormal genes can present itself in the next generation, which is why carrier genetic testing is an important step to take before conception.
Genetic medicine is an extremely specialized skillset and Manipal Hospitals understands the importance of providing complete healthcare for past and future generations. Our team of experts and state of the art genetic labs are a testament to this.
It is important to investigate the affected individual when suspected to be a genetic disorder. It helps in prognostication and better management of the condition. Genetic testing will also help to provide appropriate recurrence risk.
Contact us to know more about genetic disorders and book an appointment with one of our Genetic medicine specialists today.
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