Carrier Screening

The Importance of Carrier Screening

Genetic Abnormalities account for about 20-25% of fetal and post-natal deaths.  Many Genetic Disease can be diagnosed early in pregnancy by both invasive and non-invasive means.

Prenatal diagnosis can be recommended for the following:

  • High risk pregnancy (a woman is 35 years of age or older)
  • Previous child with a chromosome abnormality
  • History of recurrent miscarriages
  • History of a single gene disorder in the family
  • History of a Metabolic Disorder
  • History of Neural Tube Defect
  • History of X-linked disorder such as Hemophilia or Muscular Dystrophy

This is a small list but carrier testing is recommended by the American Collge of Medical Genetics (ACMG) and the American College of Obstetrics and Gynecology (ACOG).

Since risks vary by individual and based on family and medical history Carrier Screening should be tailored to the needs of the family.

Carrier Screening can be divided into some basic categories.

1. Basic Screening – Screens for commonly requested disorders

2. ACMG and ACOG Recommended Screening – A broader panel of disorders recommended to be screened in patients with increased risk

3. Ashkenazi Jewish Panel – screens for 35 common disorders found in individuals of Ashkenazi Jewish descent

4. Comprehensive – screen for over 150 genes associated with perinatal childhood genetic disease

Which Screen is Right for Me?

Carrier screening offers information about the individual and family.  In addition, costs can vary based on the type of Carrier Screening performed, the number of diseases tested and the method of testing.  Our goal is to offer the appropriate Carrier Screening method based on your risks.  We also will consider costs to offer you the most cost-effective strategy for testing that addresses your risks and needs.

Benefits of Carrier Screening

Carrier screening offers prospective parents the option of choosing or declining to receive genetic information pertinent to their personal situation prior to conceptions.

After conception, Carrier Screening can help determine risks in pregnancy, identifies possible complications that can arise during pregnancy and birth and provides knowledge that can help prepare both the parents and the care team about needs for a child with a genetic abnormality

Interested in Carrier Screening?

Contact Us Now


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