Genetic and Foetal Medicine

The Genetics and Foetal Medicine Unit at BLK Super Speciality Hospital focuses mainly on using various diagnostic procedures to determine the health of the unborn child. It is involved in the accurate diagnosis, comprehensive management, counselling and prenatal diagnosis of common and rare genetic and non-genetic disorders. 

The concept of “Foetus as a patient” is new and Genetics and Foetal Medicine Unit provides its patients with complete solutions to foetal diseases. Our team of experienced doctors works closely with Neonatology, Paediatric surgery, Paediatric Cardiology, Paediatric cardiothoracic surgery, Paediatric urology, Paediatric Neurology, Paediatric neurosurgery, and Paediatric otolaryngology to offer integrated prenatal care for patients who receive unexpected foetal screening or ultrasound results.
 

What Are The Services Provided At The Genetics and Foetal Medicine Unit?

The dedicated team of doctors at the Genetic and 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.

Earlier, genetics was only restricted to labs but now this speciality is finding application in clinical practice. Management of genetic disorders is still mainly palliatives or out of reach of common people. However, the only way to prevent a wide range of these genetic disorders is through Genetic counselling & prenatal diagnosis.

Services offered - Clinical Genetics and Foetal Medicine 
Genetic counselling services by a highly trained medical geneticist for  

  • Single gene disorders 
    • Chromosomal diseases 
    •  A child with a mental/physical handicap  
    • Teratogen (drug / radiation) exposure 
    • Family history of Genetic Diseases
  • Prenatal diagnosis by amniocentesis / Cordocentesis/ CVS in order to eliminate various genetic & non-genetic disorders such as: 
    • Down syndrome or any other chromosomal diseases 
    • Cystic fibrosis
    • Spinal Muscular Atrophy (SMA)
    • Thalassemia and other haemoglobinopathies 
    •  Congenital adrenal hyperplasia 
    • Duchenne Muscular Dystrophy (DMD)
  • Counseling for abnormal Genetic Sonogram (for soft markers / congenital malformations)
  • Counselling and management for Intrauterine Infections (TORCH) – 
    • Chickenpox 
    • Polymerase chain reaction (PCR) for Cytomegalovirus (CMV)
    • Rubella 
    • Toxoplasma 
    • Parvovirus
  • Management & evaluation of recurrent abortions (which includes LIT therapy)
  • Management & evaluation of recurrent intrauterine death (IUD) 
  • Diagnosis and genetic testing for a neurological disorder like:
    • Huntington chorea 
    • Spinocerebellar ataxia
  • Genomic testing
  •  Inborn errors of metabolism
  •  Neuromuscular disorders
    • Duchenne Muscular Dystrophy (DMD)
    • Spinal Muscular Atrophy (SMA)
  • Counselling and genetic testing for 
    • Breast Cancer
    • Ovarian Cancer
  • Foetal Autopsy and counselling by a genetic expert for 
    • Etiological diagnosis 
    • Next pregnancy
  • Primary amenorrhoea
  • Genetic tests for Male infertility
  • Dysmorphology
  • Preconception / Premarital Counselling

What Are The Conditions We Treat Under The Genetics and Foetal Medicine Unit?

Some of the major conditions we treat include:

  • Ante-partum
    • Ante-partum Haemorrhage (APH)
    • Abnormal Ductus Venosus (DV) flow
    • Cervical Insufficiency
    • Open Neural Tube Defects (NTDs)
    • Premature Rupture of Membranes (PROM)
    • Dichorionic Diamniotic (DCDA) twins
    • Monochorionic Monoamniotic (MCMA) twins
    • Placenta Accreta
    • Placenta Praevia
    • Twin to Twin Transfusion Syndrome (TTTS)
  • Abdominal
    • Abdominal wall defects
    • Absence of the abdominal muscles or prune belly syndrome
    • Diaphragmatic hernia
    • Gastroschisis or abnormal opening in the abdominal wall
    • Intestinal Atresia or blockage in small intestine
    • Omphalocele
  • Cardiac
    • Acardiac twins
    • Double outlet right ventricle
    • Ebstein’s anomaly
    • Endocardial cushion defects
    • Hypoplastic Left Heart Syndrome (HLHS)
    • Tetralogy of Fallot (TOF)
    • Transposition of the great arteries
    • Tricuspid regurgitation at 11-13 weeks' gestation
    • Ventricular Septal Defects (VSD)
  • Haemolytic
    • Alloimmune thrombocytopenia
    • Anaemia and haemolysis
  • Neurological
    • Cerebral palsy
    • Dandy-walker malformation
    • Down syndrome
    • Genetic brain malformation
    • Hydrocephalus and ventriculomegaly
    • Spina bifida
  • Pulmonary
    • Bronchopulmonary sequestrations or solid masses of lung tissue
    • Congenital diaphragmatic hernia
    • Cystic pulmonary airway malformation
    • Pleural effusions
  • Renal
    • Hydronephrosis
    • Polycystic kidney
    • Renal agenesis
    • Multicystic kidney
  • Skeletal
    • Abnormal bones
    • Abnormal skull shape
    • Hypomineralization
    • Major limb abnormalities
    • Skeletal dysplasia
  • Miscellaneous
    • Entrapment of foetal parts or amniotic band syndrome
    • Extremity entrapment
    • Head/face entrapment
    • Premature rupture of foetal membranes
    • Selective intrauterine growth restriction (IUGR)

Find Complete Relief from BLK Experts

If you think you are facing similar conditions, or have suffered from them in the past, please contact the BLK Hospital team to schedule an appointment at : +91-11-30403040

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