Genetic Testing

  • Genetic testing, or pregnancy screening, refers to screening of the mother to see if she is a carrier for genetic mutations that can be passed on to her baby and screening each pregnancy for major chromosomal and structural abnormalities of the foetus or functional deficiencies of the placenta.
  • Tests through our office are all screening tests that involve bloodwork or ultrasound evaluation. The test may not be covered by your insurance policy or the charges may be applied to your deductible. No test or procedure is 100% accurate and no assurances or guarantees can be made.
  • All obstetrical patients are required to have an ultrasound at 18-20 weeks to evaluate the anatomy and growth of the foetus.
  • For more detailed information, please visit The American College of Obstetricians & Gynaecologists, Prenatal Genetic Diagnostic Tests FAQ

PREGNANCY SCREENING OPTIONS

  1. Maternal Carrier Screening– a blood test for a number of conditions that can be passed from parent to child even if neither parent has the clinical disease or any symptoms. This will include, among others, testing for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Mutation. If a mother is positive for a genetic test, then testing for the father is recommended.
  2. Cell free DNA / Noninvasive Prenatal Testing (NIPT)– a blood test that detects fragments of foetal DNA in the maternal blood to screen for Trisomy 13, Trisomy 18, Trisomy 21 (Down Syndrome), and disorders of the X and Y chromosomes. This test is highly sensitive and specific and can be done as early as 10 weeks of pregnancy.
  3. Nuchal Translucency– a specialized ultrasound that measures the thickness of the foetus’ neck skin fold between 12-14 weeks of pregnancy. This is a screen for genetic and structural defects with the foetus. This ultrasound assessment is performed by recommended Foetal Medicine Specialists. Booking as early as possible is essential.
  4. Maternal Serum AFP– a blood test between 15-21 weeks to screen for risk of neural tube defects and placenta dysfunction. This test does not need to be done if the AFP4 is completed.
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