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Pregnancy and Prenatal Testing


There are vitamins and minerals in pregnancy and breastfeeding that support a baby's development.  These include folate and iodine.

Neural tube defects such as spina bifida and anencephaly  are partly caused by a lack of the B group vitamin called folate or folic acid in the mother i.e. in the pregnancy environment in which the baby is developing before birth.

Research has shown that 7 out of 10 (70%) cases of neural tube defects can be prevented by increasing the mother’s intake of folate prior to, and during, early pregnancy.

It is recommended that for all women, folate supplements (0.5mg per day) be taken for a least 1 month prior to possible conception and continued at that level for the first 3 three months of pregnancy.

Some couples have a higher than average chance of having a child with a neural tube defect. These include where the mother or father themselves have a neural tube defect, women who are insulin dependent diabetics and some women who are taking anticonvulsant medications. In these situations, it may be necessary to take a higher dose of folate and/or refer for genetic counselling.


Women of particular ethnic backgrounds may have an increased chance of carrying genetic changes that can cause illness in their offspring.

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.  Fact Sheet 65 Reproductive Genetic Carrier Screening

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 43 Thalassaemia and Fact Sheet 44 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 42 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 41 Cystic Fibrosis

RACGP Genetic carrier screening for inherited rare diseases - information, resources and GP CPD 


Prenatal Clinics

Specialised services focused on providing information and support regarding testing and screening during pregnancy 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 exposure

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.

GP FTS MOdule.png

RACGP Genetic carrier screening for inherited rare diseases - GP CPD and resources



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