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Pregnancy Information and Testing

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The Importance of Pregnancy Preparation

The outcomes of pregnancy for both mothers and babies have improved dramatically during the last century. Much of this progress is due to changes in social and living conditions as well as improved health care. [1]

Despite this progress, during the last two decades of the 20th century, the rate of improvement has decreased significantly. This relates particularly to premature delivery and low birth weight in Australia. [2]

Premature births are defined as those that occur before 37 weeks of pregnancy.

In Australia, about 7 in every 100 pregnancies (7%), result in premature delivery. This figure may be higher or lower according to where in Australia the woman lives and her ethnic background. 

Most of the premature deliveries occur in the last two months of pregnancy. The earlier the baby is born, the higher the chance of a serious problem.

Problems that may affect women after a premature birth include mood disorders and anxiety.

The baby is most susceptible to developing certain problems in the first 10 to 12 weeks of pregnancy. Some of these may lead to a miscarriage or later complications. It needs to be recognised, however, that many women are not aware that they are pregnant until late in this critical period, and in most cases, the pregnancy outcome will be positive.

Dietary considerations both in the early pregnancy and prior to conception include supplementation with the B group vitamin, folic acid (folate). International and Australian studies have shown that when taken in sufficient doses, dietary folate reduces the chance that a woman will have a baby with a neural tube defect such as spina bifida. [3] [4]

The continued improvement of pregnancy outcomes is vital and achievable. There is evidence that addressing some of the mother’s health issues, lifestyle and diet before she becomes pregnant can assist in improving pregnancy outcomes including reducing the rates of miscarriage and prematurity. [5]

Being informed and prepared therefore, before a pregnancy, may potentially reduce the likelihood for problems during a pregnancy. For this reason, a woman should try to consult with her health care provider at least six months before a pregnancy.

Vitamins in Pregnancy

Lifestyle and Environmental Issues

A woman’s health prior to pregnancy is vital. It is important that she be aware that her lifestyle and environment may affect the development of her baby.

Some of the risks associated with lifestyle and environment include: 

  • Dietary supplementation with folic acid and iodine
  • Effective hydration and food hygiene
  • Exposure to radiation such as X-rays
  • Exposure to heat and humidity
  • Alcohol intake
  • Smoking
  • Recreational drugs
  • Exposure to chemicals in the environment and workplace
  • Intense physical activity

These exposures may affect a baby’s growth and development, the chance for premature birth and a child’s ability to learn. For example, supplementation of diet with vitamins such as folic acid both before and during a pregnancy, can reduce the chance of spina bifida occurring in a baby.

Women may seek support to reduce their smoking or intake of alcohol.

Awareness of these issues may help a woman plan for a safer pregnancy. Importantly, some of these issues need to be addressed before a pregnancy

Health Issues

Some of the issues that a woman may wish to address prior to planning a pregnancy include: 

  • Fatigue, which is a common problem encountered during pregnancy. A woman may consider how this might impact on her professional and personal life.
  • Current health issues and medications. Optimising your medical management or altering your medication may be advisable prior to and during a pregnancy.
  • Reduced immunity to viral and other illnesses. Vaccinations may be required.
  • Family history of an inherited condition. Concerns can be addressed with genetic counselling in the form of information, support and genetic testing.
  •  Increasing age, particularly being over the age of 35 years is associated with a greater chance for pregnancy complication.
  • Outcomes or complications in a previous pregnancy.
  • Delays in falling pregnant and fertility management.
  • Family planning.

Considering these issues prior to pregnancy is part of a critical path to achieve satisfactory pregnancy outcomes. Ideally, it may be useful to look into these issues six months or more before a pregnancy

Social Well-being

When we think about improving a woman’s health in the time before a pregnancy, we do not always think about how having social support will affect her well-being both during and after pregnancy. Pregnancy is a time of increased physical and emotional stress, with effects on a woman's confidence and feelings of security. It is also a time when a woman and her partner are making important plans and lifestyle changes in anticipation of parenthood.

Support networks are therefore critical for a woman to adapt to a major change in her life. The psychological well-being of a woman may be influenced by her relationships. It is important for women to recognise that social support can have different meanings for different women. Support may include a partner, a family member, friends or a professional. Having support may in turn affect how a woman copes with pregnancy, childbirth and parenting. For example, this may be helpful in minimising the chances for postnatal depression in a woman if there has been a history of unmanaged depression before a pregnancy.

Financial management may also provide a raised sense of security, and there is some evidence that this improves pregnancy outcomes. A woman needs to be able to easily access reliable information to facilitate decision-making, and to understand the physical and emotional changes with pregnancy. These anxieties may be helped by accessing information through this website.

Screening and Testing During Pregnancy

A prenatal test is usually done to determine if your baby is developing in the usual way or if there is a chance that it could be affected by a specific condition. There are two types of tests in pregnancy, prenatal screening tests and prenatal diagnostic tests.

Prenatal screening tests cannot definitely tell you if your baby has a certain condition, however they may indicate further testing may need to be considered. Prenatal screening tests include:

  • Ultrasound
  • First trimester (early pregnancy) screening: nuchal (pronounced new-cal) translucency ultrasound with or without testing of the mother’s blood
  • Second trimester (mid pregnancy) screening: testing of the mother’s blood (maternal serum testing)

Prenatal diagnostic tests look for specific genetic conditions. These tests assess your baby for a chromosome condition or a condition involving a variation in a single gene. A diagnostic test does not test for every possible physical or intellectual condition that could affect your baby.

It is important that you understand these tests. The Centre for Genetics Education has developed a number of materials that can be viewed online or ordered from the Centre.

Publications and resources related to Prenatal Testing

Understanding Genomic Test Results
Preimplantation Genetic Diagnosis (PGD)

PGD involves testing for certain genetic conditions in an embryo created using assisted reproductive technologies (ART) such as in vitro fertilisation (IVF), prior to transferring it to the uterus and allowing it to develop normally. After hormonal stimulation of the woman’s ovaries, some eggs are removed and then fertilised in the laboratory with sperm.

One to two cells are removed from the embryo at the eight cell stage (after 3 days) or at blastocyst stage (after 5 days), for testing. Only those embryos that do not have the specific genetic condition that was tested for, will be transplanted into the woman’s uterus.

Usually, no more than one or two embryos will be transferred to the uterus at any one time to avoid the possibility of multiple births (more than one baby in a pregnancy). Success rates for having a child from an IVF cycle followed by PGD varies from IVF centre to centre, but tend to follow standard IVF success rates. Like any IVF procedure, stress and often disappointment can accompany PGD.

Couples will need to balance the financial and emotional burden of the IVF procedure followed by PGD with that of termination of an affected child conceived naturally.

In Australia, PGD is currently only offered in the private setting.

More information on PGD

Fact Sheet 29: Preimplantation Genetic Diagnosis

Diagnosis of an Abnormality in an Unborn Baby

For most parents the diagnosis of an abnormality in their unborn baby is completely unexpected. The diagnosis generally comes as a shock and is often the start of a very difficult and at times devastating sequence of events.

When there is a diagnosis of an abnormality a parent may feel isolated, frightened, numb, alone or out of control. Decisions may be made amidst emotional confusion. The confusion and feelings can last for a long time.

The Centre for Genetics Education has produced materials below aimed to assist in this time.


Diagnosis of Abnormality in an Unborn Baby 

An informative and supportive booklet on the impact, options and experiences felt after a diagnosis of an abnormality in an unborn baby.

When your baby has a problem

How to manage the weeks ahead.

Genetic Services and Counselling Why knowing about your genes is important to your future: Information about genetic services in New South Wales.

Genetic Conditions Support Groups

Genetic Alliance Australia is a network of people who are affected by genetic conditions, either directly or indirectly. They make sure that you have someone to talk to. They can assist you in finding other places and people to make your journey a little easier.

Genetic Counselling Services


[1] Papiernik E, Goffinet F (2004). Prevention of preterm births, the French experience. Clin Obstet Gynecol 47:755-767.

[2] Tracey S, Tracy M, Dean J, Laws P and Sullivan E (2007). Spontaneous preterm bith of liveborn infants in women at low risk in Australia over 10 years: a population-based study. BJOG 114:731-55

[3] Czeizel AE, Dudas I (1992). Prevention of the first occurrence of neural-tube defects by periconceptual vitamin supplementation. N Engl J Med 327:1832-35.

[4] Bower C, de Klerk N, Hickling S, Ambrosini G, Flicker L, Geelhoed E, Milne E (2006). Assessment of the potential effect of incremental increases in folic acid intake on neural tube defects in Australian and New Zealand. Aust N Z J Public Health 30:369-74.

[5] Maconochie N, Doyle P, Prior S, Simmons R. (2007). Risk factors for first trimester miscarriage-results from a UK-population-based case-control study. BJOG 114:170-86.



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