Chromosomal anomalies and other conditions

Human cells usually have 46 chromosomes. Chromosomal anomalies happen when there are missing or extra chromosomes or the chromosomes are altered in some way.

There are many types of chromosomal anomalies, many of which might cause physical or intellectual disability. Conditions caused by chromosomal anomalies include Down syndrome, Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome).

There are other conditions that aren’t caused by chromosomal anomalies but that can develop and be detected in pregnancy. These include neural tube defects like spina bifida.

About antenatal tests for chromosomal anomalies and other conditions

Antenatal tests are the tests you have in pregnancy. These tests help you and your health professionals find out how likely you are to have a baby with chromosomal anomalies or other conditions. Your health professionals might recommend these tests if you have a family history of certain chromosomal anomalies or other conditions.

There are 2 types of tests for chromosomal anomalies and other conditions:

• screening tests
• diagnostic tests.

Your midwife or doctor will offer you these tests. It’s your choice whether to have them.

There are several things to think about before having antenatal tests for chromosomal anomalies and other conditions. For example, how do you feel about what you might find out from these tests? It’s OK to ask your midwife or doctor for more information about the tests and what they mean if you’re not sure.

Sometimes asking difficult questions about antenatal tests for chromosomal anomalies can help you and your partner decide about having the tests. The YourChoice prenatal decision aid can help you learn more and decide whether you want to have screening tests.

Screening tests for chromosomal anomalies and other conditions

Early in your pregnancy, your midwife or doctor will talk with you about screening tests.

Screening tests look at the chance of your baby having certain chromosomal anomalies or other conditions. The results will say that your baby has a high chance or that your baby has a low chance of having a chromosomal anomaly or other condition. Screening tests don’t detect all chromosomal anomalies and don’t tell you whether your baby definitely has the condition.

These tests are safe for your baby. They don’t increase the chance of miscarriage.

Non-invasive prenatal testing (NIPT)
NIPT involves a simple blood test. A small amount of your blood, which contains some DNA from your baby’s placenta, is tested.

You can have NIPT any time from 10 weeks of pregnancy onwards.

NIPT is more accurate than other screening tests, but it’s also the most expensive kind of screening test. You might also hear it called cell-free DNA or cfDNA testing.

Combined first trimester screening (CFTS)
CFTS involves a blood test from you and a measurement from your 12-week ultrasound scan.

You can have the blood test at 8-12 weeks of pregnancy. It measures the levels of 2 different hormones that occur naturally in your blood.

The 12-week ultrasound scan is one of the routine screening tests in pregnancy. You can have this scan at 11-13 weeks of pregnancy.

If you decide to have CFTS, the professional doing the ultrasound will measure the back of your baby’s neck. This measurement is called the nuchal translucency.

Your baby might have a higher chance of chromosomal anomalies if:

• You have certain levels of hormones.
• The measurement at the back of your baby’s neck is higher than expected.

Second trimester maternal serum screening
Second trimester maternal serum screening involves a simple blood test.

Your blood is tested for hormones from your placenta and from your baby. The levels of these hormones, your baby’s gestational age, and your age and weight are used to estimate the chance of your baby having certain chromosomal anomalies.

You can have this blood test at 14-20 weeks of pregnancy.

Second trimester maternal serum screening also looks at the chance of your baby having a neural tube defect like spina bifida. To confirm whether your baby has this condition, you’ll need an ultrasound, usually at 20 weeks of pregnancy.

Screening tests and your age
Screening tests for chromosomal anomalies will take your age into account. This is because the chance of having a baby with Down syndrome and certain other chromosomal conditions increases as you get older.

Screening results use words like ‘high risk’ or ‘screen positive’ and ‘low risk’ or ‘screen negative’ to describe the chance of chromosomal anomalies or other conditions in your baby. The results might also show your chance as a number – for example, ‘1 in 500’. If you’re not sure what the result means for you and your baby, it’s OK to ask your midwife or doctor to explain.

Next steps after screening tests

Your midwife or doctor will let you know the results of screening tests. If your screening test result says that there’s a high chance your baby has a condition, the midwife or doctor will talk with you about diagnostic tests.

If they don’t let you know about results, you have the right to ask.

Diagnostic tests for chromosomal anomalies

Diagnostic tests can give you a yes or no answer – yes, your baby has a chromosomal anomaly or condition, or no, your baby doesn’t have the anomaly or condition.

Diagnostic tests can also detect a wider range of chromosomal anomalies.

Diagnostic tests involve taking small samples of tissue from your placenta or fluid from around your baby. There are 2 ways to take the samples:

• chorionic villus sampling (CVS)
• amniocentesis.

Chorionic villus sampling (CVS)
CVS is used to get a sample of the placenta from your uterus.

First, a doctor gives you a local anaesthetic for your tummy area. Next, the doctor uses ultrasound to guide a thin needle into your uterus to collect one or more samples. If the position of your placenta makes it difficult or impossible to insert the needle through your tummy, the doctor will insert a soft tube through your vagina and cervix to get to your uterus – but this doesn’t happen often.

CVS is best done at 11-14 weeks of pregnancy – that is, in the first trimester. It might be up to 2 weeks until you get CVS results. Some clinics can return results faster (in 1-2 days), but this might cost more.

CVS has a risk of miscarriage of 1 in 100. This means that for every 100 times a CVS is done, there’s one miscarriage that would not otherwise have happened. It’s a good idea to discuss the risks with your midwife, a doctor or a genetic counsellor.

Amniocentesis
You might be offered amniocentesis as an alternative to CVS after 15 weeks of pregnancy. Sometimes, you might be offered amniocentesis if you’ve had CVS, but the CVS results aren’t clear.

Amniocentesis is used to take a sample of the fluid that surrounds your baby in the uterus. First, a doctor gives you a local anaesthetic for your tummy area. Next, the doctor uses ultrasound to guide a thin needle into your uterus to collect one or more samples.

Amniocentesis results might take a few weeks. Some clinics can return results faster (in 1-2 days), but this might cost more.

Amniocentesis has a risk of miscarriage of less than 1 in 200. This means that for every 200 times an amniocentesis is done, there’s about one miscarriage that would not otherwise have happened. It’s a good idea to discuss the risks with your midwife, a doctor or a genetic counsellor.

For both CVS and amniocentesis, you need to go to a hospital or private clinic. It takes only a few minutes to get the sample, but you might be at the clinic for around 2 hours. You need someone to drive you home.

Costs of antenatal tests for chromosomal anomalies and other conditions

The costs of antenatal testing can vary a lot, depending on things like:

• whether you go through the public or private health care system for your pregnancy
• whether there’s a high chance that your baby has a chromosomal anomaly
• who’s providing your pregnancy care.

It’s a good idea to check with your pregnancy health professional about costs, but here’s a rough guide:

• Non-invasive prenatal testing (NIPT) – you have to pay for this test. Depending on which test you choose to have, the cost might be $350-$450. You can’t get any money back from Medicare or private health insurance.
• Combined first trimester screening – costs depend on your health care provider. You can get some money back from Medicare to cover part of the cost of the blood test and the scan.
• Second trimester serum screening – you usually don’t have to pay for this test in the public or private health system.
• CVS, amniocentesis and laboratory testing – you don’t have to pay for these tests in the public health system. If you’re in the private system, you have to pay for these tests, but you can get some money back from Medicare.