Newcastle Ultrasound for  Women

There is a possibility of a less than perfect outcome in any pregnancy. The risk of some disorders in a baby are higher in certain couples due to age, family history, medication or medical problems in the parents. An estimate of this risk can be ascertained and the pros and cons of available testing can be discussed.

Normal male chromosomes

Birth defects vary in severity and may include both intellectual and physical disability.

The diagnosis of a genetic disorder may be made during pregnancy, after birth, in childhood or later in life. An irregularity in one or more genes results in abnormal development or health. A family history may reveal who is at risk, and who is not. Couples are often reassured following genetic counselling that the family history of a condition is unlikely to be significant, particular in a future pregnancy. However these risks may be increased if the condition is heritable. Current information both verbal and written is provided to help people deal with the issues that may arise from the diagnosis of such a disorder.

Accurate diagnosis of many inherited disorders is now possible by special laboratory tests. Cystic fibrosis testing should be considered if there is a family history or if a couple are planning a pregnancy or are concerned as it is the commonest genetic condition in our community.

Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. The most common change seen at birth is Down syndrome where there is an extra 21 chromosome. This particular chromosome change and some others occur more commonly in mothers over the age of 35 years.

Chromosomes from a Down syndrome affected fetus

Many genetic disorders can be detected during pregnancy. Women and their partners need to be given the option of prenatal testing and be allowed to make an informed choice. Genetic counselling in this situation needs to include current information and a discussion of the different pregnancy outcomes that follow the decision either for or against testing.

Environmental factors can affect the outcome of a pregnancy if exposure occurs during the period of fetal development. Maternal infection may result in an adverse outcome, such as can occur in rubella. Many women are concerned about medication taken during pregnancy. In most cases, the benefits outweigh the potential risks to the fetus. Drugs that are known to cause birth defects are called teratogens. Current information is vital in making an informed choice.

Serious medical conditions affecting the mother that may affect the fetus are fortunately uncommon. Such pregnancies need to be carefully planned and closely monitored.

Who should have genetic counselling?

• Women who are having a baby and are in there mid 30's or older.
• Couples with a family history who are concerned with themselves and their offspring.
• Couples who already have a child with a serious disorder or have terminated a pregnancy for fetal abnormality.
• Couples who are close relatives and are planning a family.
• Women who are exposed to some chemical or environmental agent which might cause a birth defect.
• Women with a serious health problem.
• Women who are having a baby and are in there mid 30's or older.
• Couples with a family history who are concerned with themselves and their offspring.
• Couples who already have a child with a serious disorder or have terminated a pregnancy for fetal abnormality.
• Couples who are close relatives and are planning a family.
• Women who are exposed to some chemical or environmental agent which might cause a birth defect.
• Women with a serious health problem.

Most couples expect to give birth to a healthy baby.

However approximately 1 in 50 will have a baby born with a birth defect. The cause for such a pregnancy outcome may be inherited or chromosomal. it may be due to the environmental factors such as drugs, or a medical condition affecting the mother.

Genetic counselling is a process for an individual or family where the diagnosis of a particular condition is made and current information is provided in a supportive way. This may assist couples in making an informed decision about continuing in the pregnancy, in understanding their risks in a future pregnancy and their reproductive options including Prenatal Testing.

Information Brochures

Testing for Cystic Fibrosis Cystic fibrosis (CF) is a common inherited condition, affecting one in every 2,500 babies born in Australia. Testing is available to all couples with a family history of CF, prior to a planned pregnancy, early in pregnancy, or to males with a history of infertility.