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Prenatal Genetics

newmom.jpgAdvances in genetic testing and screening have resulted in many new tests to provide women with information about the health of the fetus before birth. Many of these tests are time sensitive - new tests for prenatal screening for Down syndrome, for example, are available at 11 weeks’ gestation.

We have developed several resources to help health care providers learn about these new prenatal screening tests for Down syndrome and to help women and their families make informed decisions about prenatal screening.

Prenatal Screening for the Detection of Down Syndrome, Trisomy 18, and Open Neural Tube Defects

Reference Guide for Health Care Providers

(This monograph includes information about Down syndrome, trisomy 18 and open neural tube defects, prenatal screening tests including testing algorithms, detection and false positive rates, diagnostic testing options, and a table of risk of chromosome abnormalities with maternal age.


Prenatal Screening Tests for the Detection of Down Syndrome with Referenced Speaker’s Notes
(1,422 KB PowerPoint - see instructions for printing)

This PowerPoint module was written to help educate health care providers about the new screening tests available for Down syndrome; it can be used as a reference or for the education of other health care professionals.

New Prenatal Screening Guidelines

Society of Obstetricians and Gynaecologists of Canada – SOGC Clinical Practice Guidelines: Prenatal Screening for Fetal Aneuploidy. JOGC 2007; 187 146-161.

A Guide to Understanding Prenatal Screening Tests for Women and their Families     En français  (This guide includes information about the disorders screened for, description of testing options & results, things to consider before deciding about prenatal screening, and diagnostic testing.


Non-invasive Prenatal Testing (NIPT) Factsheet for Parents

Non-invasive Prenatal Testing (NIPT) Factsheet for Healthcare Providers


Genetic Screening Tips: Pre-conception and During Pregnancy

Family history (3 generations): consider referral to genetics in the following circumstances:

  • Family history of:
    • birth defects
    • mental retardation or developmental delay
    • stillbirths or childhood deaths
    • chromosome disorders
    • severe childhood conditions (muscular dystrophy, cystic fibrosis)
  • Consanguinity
  • Potential patterns of inheritance

Consider referral to genetics with the following pregnancy history:

  • maternal age ≥35
  • 3 or more spontaneous abortions
  • stillbirths
  • childhood deaths
  • infertility

For more information see:


Carrier Screening

The Ashkenazi Jewish screening panel at the Hospital for Sick Children currently consists of testing for seven diseases common in the Ashkenazi Jewish population:

  • Bloom syndrome
  • Canavan disease
  • Familial dysautonomia
  • Fanconi anemia group C
  • mucolipidosis type IV
  • Niemann Pick disease type A & B
  • Tay-Sachs disease

For more information see:

Hemoglobinopathies are a group of genetic conditions affecting red blood cells in people with the following backgrounds:

  • Mediterranean
  • African
  • Middle Eastern
  • Asian
  • Hispanic/South/Central American background

For more information see:

For a list of genetics clinics located in Canada, see the Canadian Association of Genetic Counsellors’ website  If you have questions about the management of a patient with one of the above risk factors, contact your local genetics clinic for assistance.




  • March of Dimes: For professionals
    See “Genetics & Your Practice”: Online continuing education program in genetics for physicians, specialists, nurses and midwives.
  • March of Dimes: For patients
    An excellent source of patient information for questions during pregnancy, such as pre-conception, common prenatal tests, complications, things to avoid, birth defects and more.
    See Genetics section and Genetic Counsellor’s toolbox section. A clearing house of obstetrical resources: links to information regarding treatment of various maternal conditions & teratogen exposures during pregnancy; professional organizations, treatment guidelines & journal articles.