What is a prenatal cell-free DNA (cfDNA) screening ?
Prenatal cell-free DNA (cfDNA) screening Pregnant women’s blood test. During pregnancy, some of the baby’s DNA circulates in the mother’s bloodstream. ccdna screening This DNA is tested to see if the baby is likely to carry Down syndrome or another disease caused by trisomy.
Trisomy is a misalignment of chromosomes. Chromosomes are parts of cells that contain genes. Genes are pieces of DNA passed down to you by your mother and your founders. They carry information that determines your original characteristics, such as eye height and color.
- Normally, each human cell has 46 chromosomes, spread over 23 pairs.
- If one of these couples contains an extra copy of a chromosome, this is called trisomy. Trisomy causes abnormalities in body and brain development.
- In the case of Down syndrome, there is an extra copy of chromosome 21. This is also called Trisomie 21. Down syndrome is the more common chromosomal disorder in the United States.
- Other trisomy disorders are Edwards syndrome (trisomy 18), which has an extra amount of chromosome 18 and Patau syndrome (trisomy 13), which has an extra amount of chromosome 13. These conditions occur occasionally but are more severe than Down syndrome. These disorders occur occasionally but are more severe than Down syndrome. Most children with Trisomy 18 or Trisomy 13 die in the first year of life.
A cfDNA screening Trisomie 18 or Trisomie 13 poses a fairly small risk to you and your baby, but you do not know if your baby has a chromosomal disorder. Your doctor may need to perform other tests to prove or rule out a diagnosis.
Other names: cell-free Fetal DNA, cffDNA, non-invasive. prenatal test, NIPT
What is it used for?
A cfDNA screening It is usually used to indicate whether the fetus is at high risk for one of the correct chromosomal disorders.
- Down syndrome (Trisomie 21).
- Edwards syndrome (Trisomy 18)
- Pataus syndrome (Trisomy 13).
The screening It can also be used to:
- Determine the sex (gender) of the baby. This can be done if the ultrasound shows that the baby’s genitalia are not clearly male or female. This can be caused by a sex chromosome abnormality.
- Check your blood type RH; RH is a protein identified in bearded blood cells. If you have the protein, you are Rhesus positive. If you do not have it, you are Rhesus negative. If you are Rhesus negative and your pregnant baby is Rhesus positive, your body’s immune system may attack your baby’s blood cells. If you discover early in your pregnancy that you are Rhesus negative, you can take medication to protect your baby from dangerous complications.
A cfDNA screening The medication can be taken starting in the 10th week of pregnancy.
Why do I need a prenatal cfDNA screening ?
Many health experts advise this screening Pregnant women at high risk for babies with chromosomal abnormalities. You may be at high risk for the following
- You are 35 years of age or older. The mother’s age is considered the most important risk point for babies with Down syndrome or other trisomy disorders. The risk increases as a woman gets older.
- You had another baby with a chromosomal abnormality.
- Your fetal echo did not look good.
- Other prenatal The test results were not normal.
Some doctors recommend screening to all pregnant girls. That’s because it the screening has little risk and is more accurate than other studies. prenatal screening tests.
You and your care provider should discuss or about cfDNA screening is right for you.
What happens during a prenatal cfDNA screening ?
Your caregiver takes a blood sample from a vein in your arm with a small needle. After the needle is inserted, a small amount of blood is collected in a test tube or vial. Some pressure can be felt when the needle is in and out. This usually takes less than 5 minutes.
Do I need to prepare for this test?
You may speak with a genetic consultant prior to performing the test. A genetic consultant is a professional trained in genetics and genetic testing. He or she can explain to you what these mean for you and your baby and what these mean for you.
Was there any risk in the test?
There is no risk to your fetus and not enough risk to you. You can have slight soreness and bruising in the area where the needle is inserted, but most signs will disappear quickly.
What do the results mean?
If the result is negative, it is almost ruled out that the baby has Down syndrome or another trisomic disorder. If the result is positive, it means that there is an increased risk that your baby has one of these disorders. However, this will likely not tell you if your baby is infected or not. For a more confirmed diagnosis, other tests are needed, such as amniotic fluid or the target reaching technique (CVS). These tests are generally considered fairly harmless procedures, but there is a small risk of causing a miscarriage.
If you have any questions about the results, consult your own health care provider or genetic consultant.
Is there anything else I should know? a prenatal cfDNA screening ?
cfDNA screenings For example, it is not accurate in women who are pregnant with more than one child (twins, triplets, etc.).
Supplied by MedlinePlus from the State Medical Library.
About Us
Family Medicine
In 2024 our team of doctors and nurses provide a comprehensive range of family planning services. Our doctors have expertise in antenatal care, preconception planning, and STD checks. Contraceptive advice including Mirena and Implanon insertion is available.
- Early detection of illness;
- Family planning;
- Promotion of healthy lifestyle;
- Skin cancer checks;
- Sports injuries;
- Weight reduction;
- Workers compensation and third party.
Children's Health
Baby Weighing Service. Babies can be booked with our Nurse for weighing, a doctors appointment is not required to use this service. Contact reception for a appointment to have your baby weighed.
Immunisations. At Tuggeranong Square children's immunisation is regarded an important part of your childs health care. Our doctors take immunising children very seriously. and to ensure all children are immunised Tuggeranong Square Medical Practice doctors BULK BILL for all childhood immunisations. Tuggeranong Square Medical Practice also ensures the Practice Nursing Staff are highly trained in childhood immunisations.
Women's Health
Our practice is dedicated to treating a wide spectrum of women’s health concerns. We offer pre-natal, antenatal and postnatal care, contraceptive options, pap screening, and preventative health care advice. We provide assistance, advice and support through all stages of life, recognising the many issues many women may face from adolescence through to the peri and post-menopausal period.
- Cervical Screening tests;
- Reproductive health. Including Mirena and Implanon insertion;
- Shared antenatal care.
Men's Health
We encourage men to present routinely to their GP to discuss all aspects of their health. We provide comprehensive advice and support for men to address the prevention and management of various health conditions. This may include assessments for cardiovascular risk, diabetes, cancer prevention, mental health assessments, STD screening, sports injuries and the importance of sleep as it relates to other areas of health.
- Preventative Healthcare. Including cardiovascular screening, mental health and cancer checks;
- Prostate examination.
