Genetic disorders are caused by a defect in genes or chromosomes. Common presentations like developmental delay, muscle weakness, seizures, unusual facial features etc. could be because of an underlying genetic abnormality. Contrary to our beliefs these disorders are not always present in multiple generations for example thalassemia one of the most prevalent genetic disorders in India usually occurs in families with no previous history.

A correct diagnosis is important to ensure proper management. Expert guidance enables these individuals to cope with their disease, ensures early and specific intervention so that they achieve their maximum potential and also allows clinicians to monitor and prevent further complications. Preconception counseling and Prenatal testing is essential to prevent risk of recurrence in further pregnancies.

Few examples of common conditions with a genetic basis

• Dysmorphology : Syndromic association like Down syndrome, Di George syndrome, William’s disease
• Congenital malformations: Heart defects, Cleft Lip / Palate, Polydactyly,Club Foot
• Neurology : Developmental Delay, Autism, Epilepsy
• Muscular : presenting as hypotonia or muscle weakness
• Metabolic : Inborn error of metabolism, Lysosomal Storage Disorders such as Gaucher disease, Pompe disease, Mucopolysacharidosis
• Skeletal Dysplasia : Short Stature, bone deformity
• Hematology : Thalassemia, Hemophilia, Sickle Cell Anemia, Leukemia
• Skin Disorder : Albinism, lcthysosis, Epidermolysis Bullosa
• Ophthalmology: Retinitis pigmentosa, congenital cataract
• Congenital Deafness :
• Familial cancer syndromes : Breast, Ovarian, Colorectal, Thyroid cancer
• Obstetric problems : Infertility, Recurrent Abortions, Abnormal Biochemical Screening (double/triple/quadruple marker) or Ultrasound abnormalities or exposure of drug during pregnancy (teratogenicity).

Introduction to fetal medicine

Maternal Fetal Medicine is a sub-specialty of obstetrics that focuses on the diagnosis and treatment of high risk pregnancies. Management includes monitoring and treatment including comprehensive ultrasound, amniocentesis, chorionic villous sampling and fetal surgery or treatment.

A correct diagnosis is important to ensure proper management. Expert guidance enables these women to cope with their problem, ensures early and specific intervention so that allows clinicians to monitor and prevent further complications.

Few examples of conditions under fetal medicine

• Maternal diseases: hypertension, Preeclampsia, Diabetes (presentational/gestational)
• Maternal family history of: Genetic disease such as Thalassemia, Hemophilia,DMD
• Teratogenicity: early exposure of drugs, X- rays, CT, MRI
• Infectious diseases (TORCH, parvovirus, hepatitis, HIV)
• Platelet alloimmunization (e.g. Rh negative pregnancy sensitized with Rh positive fetus)
• Multiple gestation (twins and higher order multiples)
• A known/suspected fetal anomaly, IUGR, Macrosomia, structural
• Abnormal biochemical screening or ultrasound with a risk of a chromosomal abnormality
• Preconceptional & Prenatal genetic testing and consultation
• Invasive fetal testing procedure: Amniocentesis, CVS
• Poor past obstetrical history (e.g. past preterm deliveries, premature rupture of membranes)
• Infertility, repetitive pregnancy losses