Different types of tests available during pregnancy to check the health of your baby.
This test can not detect all possible conditions, but often can identify:
Down's syndrome is a condition that produces a variety of physical and intellectual disabilities. It is caused by an extra copy of chromosome 21 and is also known as Trisomy 21.
Down syndrome occurs in about 1 in 380 pregnancies. Women of all ages can have a baby with Down syndrome, but this risk increases for every year you are older than 35.
Both of these chromosomal condition associated with intellectual and physical disabilities.
A baby born with trisomy 18 has three copies of chromosome 18 instead of the usual two copies. This condition occurs in about 1 in 2,000 pregnancies.
Babies with trisomy 13 has three copies of chromosome 13 instead of the usual two copies. Trisomy 13 occurs in about 1 in 4,800 pregnancies.
Baby well trisomy 13 or trisomy 18 usually miscarriage or, if they were born, rarely live longer than the first month.
Ask your GP for more information about Down syndrome, trisomy 13 or trisomy 18.
brain and spinal A baby develops from the neural tube at 4 weeks of pregnancy. A neural tube defect occurs when the tubes are not fully developed.
Spina bifida occurs when the tube is not completely shut down along the spine. Other neural tube defects include anencephaly and encephalocele in which the brain and skull do not develop properly.
In Australia, approximately 1 out of every 700 pregnancies affected by neural tube defects each year. Taking vitamin reduces the risk of your baby having neural tube defects.
A screening test can show whether your baby is at increased risk of birth defects. A different screening test available in:
test does not provide a definite diagnosis but will tell you if your baby at increased risk of having a chromosomal condition, such as Down syndrome. The results can then help you decide whether you want to have a diagnostic test.
can confirm if your baby has a chromosomal condition or a neural tube defect, and very accurate. Diagnostic tests that may be done while you are pregnant, including chorionic villus sampling, amniocentesis and ultrasound.
It's up to you whether you have screening and diagnostic tests. If you decide to have a screening test and you are then offered a diagnostic test, it is your choice whether or not to have a diagnostic test.
Having a prenatal test is a decision for you and your family. It can be helpful to discuss these options with your doctor or a genetic counselor.
Even if you are not going to end a pregnancy, find out whether your baby has special needs can help you to prepare. You may need specialist care during your pregnancy or books to the specialist hospital to give birth.
You may not be sure whether or not to have prenatal screening. Some questions that you might consider to help you decide among others :.
Talk to your doctor before you decide which, if any, of the test is appropriate for you
Office of Population Health Genomics
This publication is provided for educational purposes and information only. It is not a substitute for professional medical care. Information about treatment, services, products or treatment does not imply endorsement and is not intended to replace the advice of your healthcare professional. Readers should note that from time to time, currency and completeness of the information is subject to change. All users should seek advice from a qualified health professional for diagnosis and answers to their medical questions.
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