The dedicated team of doctors at the Foetal Medicine Unit aims at providing world-class care to its patients throughout the pregnancy. They focus on five main issues related to pregnancy
- Prevention of Down syndrome
- Prevention of Stillbirths
- Prevention of Thalassemia
- Prevention of Preeclampsia
- Prevention of Congenital malformations
With the reduction in the mortality rates due to infectious diseases that contributes to genetic disorders, there has been increasing awareness among clinicians and they no longer consider these disorders as a rare entity. The advancement in the field of research in genetics throughout the last century has bought plenty of applications in clinical medication into existence. The exponential growth of knowledge of genetics has helped doctors to develop world-class clinical utility. Many of these disorders are now preventable and treatable when diagnosed prenatally.
- Counseling for abnormal Genetic Sonogram (for soft markers / congenital malformations)
- Counselling and management for Intrauterine Infections (TORCH) –
- Polymerase chain reaction (PCR) for Cytomegalovirus (CMV)
- Management & evaluation of recurrent abortions (which includes LIT therapy)
- Management & evaluation of recurrent intrauterine death (IUD)
Earlier, genetics was only restricted to labs but now this speciality is finding application in clinical practice. Scientific and technologic discoveries are constantly transforming our understanding of genetic disorders and impacting almost every medical specialty. This rapid expansion of knowledge about the genetic basis of disease is bringing powerful new diagnostic and therapeutic capabilities to patient care.
Hereditary diseases are often rare and affected families require specialist advice and services. We offer a full diagnostic, genetic counselling, and genetic testing service to individuals and families affected with all genetic disorders affecting all ages. We help people to find out if they are at particular risk of genetic disorders and provide people with information about genetic disorders so that they can make informed choices about their future. We can offer both urgent and routine consultations as well as a long term follow up service for certain genetic conditions.
Our multidisciplinary services include:
a. Obstetrics, Gynecology and Fetal Medicine
- Genetic work-up of an affected person in the family to provide the risk of recurrence and for the purpose of prenatal diagnosis.
- Pre-conceptional carrier testing for any genetic disorder, especially in cases of consanguinity, and carrier testing for specific gene in case of a known genetic disease in the family.
- Genetic work-up of a fetus detected to have structural malformation or severe fetal growth restriction, unexplained fetal demise/ intrauterine death.
- Genetic counselling for an aneuploidy screen positive report, teratogen exposure.
- Genetic counselling and genetic testing for primary amenorrhea (syndromic/non-syndromic), infertility, and recurrent pregnancy losses (RPL).
- Genetic work-up of newborns with birth defects, hypotonia (floppy infant), inborn errors of metabolism, encephalopathy, and ambiguous genitalia.
- Genetic evaluation of children with autism, developmental delay, intellectual disability, epilepsies, leukodystrophies, lysosomal storage disorders, neurodegenerative and neuromuscular disorders, genodermatoses, and disorders of sexual development.
c. Genetics in Adults
- Neurodegenerative disorders in adults like Huntington’s disease, amyloidosis, Parkinson’s disease, and motor neuron disease- usually have a genetic basis and mandate genetic testing and genetic counselling
- Psychiatric disorders like schizophrenia, bipolar disorders, and major depression – Afflicted families seek and can be provided genetic counselling in these debilitating conditions.
- Polygenic risk scoring (PRS) for multifactorial/ complex diseases like coronary artery disease, hypertension, and autoimmune disorders – PRS, a new concept in clinical settings, has the potential to impact complex disease research and healthcare in a variety of ways:
- Assess an individual's risk of disease
- Harness the benefits of precision medicine based on PRS
d. Cancer Genetics
- Genetic evaluation and counselling of patient’s families afflicted with hereditary cancers like breast and ovarian cancer, colorectal cancer.
- Precision medicine- molecular testing (for both inherited and somatic mutations) as part of patient care, enables physicians to select treatments that improve chances of survival and reduce exposure to adverse effects.
e. Treatment of genetic disorders
- Inborn errors of metabolism like phenylketonuria, glutaric aciduria, galactosemia etc. are some common inherited disorders which have an established treatment protocol.
- Many other diseases like Duchenne muscular dystrophy (DMD), Spinal muscular atrophy (SMA), and cystic fibrosis, etc. are amenable to treatment with antisense oligo nucleotides (ASO) and disease modulators, respectively. Gene therapy, although exorbitantly expensive, is a reality in the treatment of Severe Combined Immunodeficiency Disease (SCID), SMA, RPE65 mutation-associated retinal dystrophy, transfusion dependent ß-thalassemia and certain cancers.