Should i get down syndrome test

Down syndrome screening includes the following tests done during pregnancy: First trimester screening includes a blood test that checks the levels of certain proteins in the mother's blood. If levels are not normal, it means there is a higher chance of the baby having Down syndrome. The screening also includes an ultrasound, an imaging test that looks at the unborn baby for signs of Down syndrome. The test is done between the 10th and 14th week of pregnancy. Second trimester screening.

These are blood tests that also look for certain substances in the mother's blood that may be a sign of Down syndrome. A triple screen test looks for three different substances. It is done between the 16th and 18th week of pregnancy.

A quadruple screen test looks for four different substances and is done between the 15th and 20th week of pregnancy. Your provider may order one or both of these tests. Down syndrome diagnostic tests done during pregnancy include: Amniocentesis , which takes a sample of amniotic fluid, the fluid that surrounds your unborn baby. It is usually done between the 15th and 20th week of pregnancy. Chorionic villus sampling CVS , which takes a sample from the placenta, the organ that nourishes your unborn baby in your uterus.

It's usually done between the 10th and 13th week of pregnancy. Percutaneous umbilical blood sampling PUBS , which takes a blood sample from the umbilical cord. PUBS gives the most accurate diagnosis of Down syndrome during pregnancy, but it can't be done until late in pregnancy, between the 18th and 22nd week.

Down syndrome diagnosis after birth: Your baby may get a blood test that looks at his or her chromosomes. What happens during Down syndrome testing? For amniocentesis: You'll lie on your back on an exam table. Your provider will move an ultrasound device over your abdomen.

Ultrasound uses sound waves to check the position of your uterus, placenta, and baby. Your provider will insert a thin needle into your abdomen and withdraw a small amount of amniotic fluid. For chorionic villus sampling CVS : You'll lie on your back on an exam table.

Your provider will move an ultrasound device over your abdomen to check the position of your uterus, placenta, and baby. Your provider will collect cells from the placenta in one of two ways: either through your cervix with a thin tube called a catheter, or with a thin needle through your abdomen.

Your provider will move an ultrasound device over your abdomen to check the position of your uterus, placenta, baby, and umbilical cord. Your provider will insert a thin needle into the umbilical cord and withdraw a small blood sample.

Will I need to do anything to prepare for the tests? Are there any risks to the tests? What do the results mean? Is there anything else I need to know about Down syndrome tests? Washington D. Amniocentesis; [updated Sep 2; cited Jul 21]; [about 2 screens]. Down Syndrome: Trisomy 21; [updated Jul; cited Jul 21]; [about 2 screens]. In about half of these situations, one parent carries the extra 21st chromosome material in a "balanced" or hidden form.

In mosaicism, the person with Down syndrome has an extra 21st chromosome in some of the cells but not all of them. The other cells have the usual pair of 21st chromosomes. About 1 to 2 percent of people with Down syndrome have this type. Screening tests can identify women at increased risk of having a baby with Down syndrome. These tests have no risks of miscarriage, but can't determine with certainty whether a fetus is affected. Diagnostic tests, on the other hand, are extremely accurate at identifying certain abnormalities in the fetus, but carry a small — generally less than 1 percent — risk of miscarriage.

We offer options for both screening and diagnostic testing. Continue reading. Sequential Integrated Screening — Sequential integrated screening is offered to all pregnant women by the state of California. This non-invasive screening is performed in two steps. In the first step, which is performed between 10 and 14 weeks of pregnancy, a blood sample is taken from the mother and a nuchal translucency ultrasound is performed to measure the amount of fluid at the back of the baby's neck.

If the blood test is scheduled prior to the ultrasound, we can provide the results at the end of the ultrasound appointment. The results of the blood test, the nuchal translucency measurement and the mother's age are used to estimate the risk for Down syndrome and trisomy The second step is a maternal blood test between 15 to 20 weeks of pregnancy. When the results of this blood test are combined with the results from the first trimester blood test and nuchal translucency ultrasound, the detection rate for Down syndrome increases.

This test also provides a personal risk assessment for having a fetus with trisomy 18, Smith-Lemli-Opitz syndrome, an open neural tube defect or an abdominal wall defect. Amniocentesis, chorionic villus sampling CVS and ultrasound are the three primary procedures for diagnostic testing. Amniocentesis — Amniocentesis is used most commonly to identify chromosomal problems such as Down syndrome. When the fetus is known to be at risk, it can detect other genetic diseases like cystic fibrosis, Tay-Sachs disease and sickle cell disease.

An amniocentesis procedure for genetic testing is typically performed between 15 and 20 weeks of pregnancy. Under ultrasound guidance, a needle is inserted through the abdomen to remove a small amount of amniotic fluid. The cells from the fluid are then cultured and a karyotype analysis — an analysis of the chromosomal make-up of the cells — is performed.

It takes about two weeks to receive the results of the test. Amniocentesis detects most chromosomal disorders, such as Down syndrome, with a high degree of accuracy. Testing for other genetic diseases, such as Tay-Sachs disease, is not routinely performed but can be detected through specialized testing if your fetus is known to be at risk. Testing for neural tube defects, such as spina bifida, also can be performed.

There is a small risk of miscarriage as a result of amniocentesis — about 1 in or less. Chorionic Villus Sampling CVS — Like amniocentesis, chorionic villus sampling is used most commonly to identify chromosomal problems such as Down syndrome. It can detect other genetic diseases like cystic fibrosis, Tay-Sachs disease and sickle cell disease in at-risk fetuses.

The main advantage of CVS over amniocentesis is that it is done much earlier in pregnancy, at 10 to 12 weeks rather than 15 to 20 weeks. CVS involves removing a tiny piece of tissue from the placenta.

Under ultrasound guidance, the tissue is obtained either with a needle inserted through the abdomen or a catheter inserted through the cervix. The tissue is then cultured and a karyotype analysis of the chromosomal make-up of the cells is performed. There is an extensive menu of prenatal screening tests now available for pregnant women. Most of these screening tests involve a blood test and an ultrasound sonogram. The blood tests or serum screening tests measure quantities of various substances in the blood of the mother, including alpha-fetoprotein, inhibin A, plasma protein A,estriol, and human chorionic gonadotropin.

It is important to note that none of these prenatal screens will be able to definitively diagnose Down syndrome. These blood tests are often performed in conjunction with a detailed sonogram ultrasound to check for physical features that are associated with Down syndrome in the fetus.

Even with the ultrasound, however, the screen will not definitively diagnose Down syndrome. In recent years, noninvasive prenatal screening tests have been made available. These tests involve blood being taken from the expectant mother as early as 10 weeks of gestation.

It relies on the detection of cell-free DNA that circulates between the fetus and the expectant mother. According to the latest research, this blood test can detect up to We recommend you speak with your physician or genetic counselor to understand your risk. The turnaround time for the test is about days, and approximately 0. Prenatal screening tests are now routinely offered to women of all ages.

If the chance of having a child with Down syndrome appears high during prenatal screening, doctors will often advise a mother to undergo diagnostic testing.