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Pregnancy and Prenatal Testing

There are many tools available for GPs and other health professionals to assist women and their partners with planning a pregnancy.


Prenatal services offer genetic counselling, prenatal screening and diagnostic testing for pregnant women and their unborn babies.

  • Genetic screening for women planning a pregnancy

Women of particular ethnic backgrounds are at increased risk of carrying genetic changes that can cause illness in their offspring.  GPs may feel it appropriate to conduct genetic testing on women or their partners planning a pregnancy.

A family history can guide GPs and other health practitioner about which tests may be useful to conduct on women planning a pregnancy. The following are examples of possible genetic testing options for couples planning a pregnancy

Hemoglobinopthaies or thalassaemias are common in people with a family background from southern Europe, the Middle East, South-East Asia, Africa, the Indian subcontinent, South America, Caribbean and Pacific Islands.
Fact Sheet 34: Thalassaemias and Sickle Cell Disease
A number of genetic conditions are more common amongst descendants of Central and Eastern European (Ashkenazi) Jews than in people from other population groups. These conditions include Tay-Sachs disease, Canavan disease, Fanconi anaemia, familial dysautonomia and cystic fibrosis (CF).
Fact Sheet 35: Tay Sachs Disease and other Conditions more common in the Ashkenazi Jewish Community
Cystic Fibrosis most commonly affects people who are of Northern European or UK descent, and is also fairly frequent in people whose ancestry is Southern European and Middle Eastern, but is rare or absent where the ancestry is Asian.
Fact Sheet 33: Cystic Fibrosis
  • Online training for GPS and other health professionals

First Trimester Screening

A 90 minute online category 2 activity to assist GPs and other health professionals develop skills and strategies to facilitate discussion with women around first trimester screening.

  • Find Prenatal Testing Services

Prenatal Testing Services

A list of Services offering Genetic Counselling and Prenatal Testing


  • MotherSafe

Mothersafe is a NSW State-wide service that provides a comprehensive counselling service for women and their healthcare providers concerned about exposures during pregnancy and breastfeeding. Such exposures may include:

Prescription drugs

  • Over-the-counter medications
  • Street drugs
  • Infections
  • Radiation
  • Occupational exposures

Health practitioners are encouraged to call or refer patients to this service for review and management of medications in pregnancy.

MotherSafe Contact Numbers

Phone: 9382 6539 (Sydney Metropolitan Area)

Phone: 1800 647 848 (Non-Metropolitan Area)




Last updated: Apr 15, 2014