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Genetic screening is a type of medical test that identifies changes in chromosomes, genes, or proteins. It's often used to detect inherited disorders, determine a person's risk of developing certain diseases, or help guide medical decisions for treatment and prevention.
Newborn Screening
Done shortly after birth to identify genetic disorders that can be treated early.
Commonly tests for conditions like phenylketonuria (PKU), cystic fibrosis, and sickle cell disease.
Carrier Screening
Checks if a person carries a gene for a genetic disorder (even if they don’t have symptoms).
Often used before or during pregnancy.
Prenatal Screening
Performed during pregnancy to assess the risk of the fetus having genetic conditions like Down syndrome or trisomy 18.
Includes blood tests and ultrasound; may be followed by diagnostic tests like amniocentesis.
Preimplantation Genetic Diagnosis (PGD)
Used with IVF to test embryos for specific genetic conditions before implantation.
Predictive or Presymptomatic Testing
Helps identify risk for developing diseases later in life (e.g., BRCA1/2 for breast and ovarian cancer, Huntington's disease).
Medical Reasons : Sometimes used to examine possible abnormalities (e.g. cleft lip or spinal issues).
Keepsake Imaging : Many parents get it for bonding or to keep images/videos as memories.Family history of a genetic condition
Belonging to an ethnic group with higher risk for specific disorders
Recurrent pregnancy loss or infertility
Planning a pregnancy later in life (e.g., age 35+)
Dr. Madhu Juneja is a highly skilled and compassionate gynecologist, obstetrician, and infertility specialist. With her extensive expertise and dedication, she has helped numerous patients navigate their reproductive health journey with confidence and care.
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