Two Types Of Prenatal Tests
There are two types of prenatal genetic testsprenatal screening tests and prenatal diagnostic tests. A prenatal screening test checks to see whether your baby is more likely to have a health condition, while a prenatal diagnostic test provides specific, definitive information about whether a baby has a genetic disorder.
Prenatal screening tests are performed several ways. The first is known as carrier screening, which uses a blood sample or a sample of cells from the inside of the cheek. This test identifies whether parents carry a gene tied to an inherited disorder. While carrier screening is often done during pregnancy, it can also be performed prior to pregnancy.
Other prenatal screening tests use a blood test and images from an ultrasound exam to determine the likelihood that the fetus has one of several conditions that include an extra or missing chromosomes, and/or a birth defect. Prenatal screening includes cell-free DNA testing, which uses a sample of the mothers blood to screen tiny fragments of DNA for conditions such as Down syndrome.
Prenatal diagnostic tests identify a potential for a genetic disorder. They often follow a screening test and use cells that come from the baby or the placenta to collect information about certain disorders. Amniocentesis and chorionic villus sampling are two examples. This type of testing carries a small risk of miscarriage.
Getting Support And Advice
Planning a pregnancy can cause a lot of worry if you are concerned about a genetic condition that can be passed on to your children. The results of a genetic test can have a major impact on your life and the lives of your family members. You should consider talking to your doctor or getting genetic counselling before going ahead with testing.
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What Are Screening Tests
Screening tests are used to find people at higher chance of a health problem.
This means they can get earlier, potentially more effective, treatment or make informed decisions about their health.
Screening tests are not perfect. Some people will be told that they or their baby have a higher chance of having a health condition when in fact they do not have the condition.
Also, a few people will be told that they or their baby have a lower chance of having a health condition when in fact they do have the condition.
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The Facts About Prenatal Genetic Testing
Prenatal genetic tests can tell whether a baby has a genetic disordera type of medical condition that involves a change or defect in the typical chromosome structure, number or content.
Chromosomal abnormalities differ by whats askew with the chromosomes. Missing chromosomes or extra chromosomes are called an aneuploidya trisomy when theres an extra chromosome, and when a chromosome is missing.
Inherited disorders are also considered genetic, and they are caused by changes in our genes called mutations.
Why Do I Need This Information
Ultimately, the goal of genetic testing is to provide you with information about the health of your baby. This information can provide you with peace of mind and may also help you help you prepare mentally, emotionally, and financially in the case where your child is at an increased risk for a genetic condition. Early access to this information can help guide you to make decisions like whether to change your birth plan to accommodate a specialized hospital with the right care team for you and your baby, or seek support via advocacy groups.
Ok, but Im healthy and I dont have a family history do I still need testing? Your health and your family health history isnt the only thing that impacts your risk.In fact, the American College of Obstetricians and Gynecologists recommends that doctors provide information about carrier screening to all women who are pregnant or planning to become pregnant. Thats because 80% of babies born with a genetic condition are born to parents withno personal or family history of the condition.
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Is The Certainty Prenatal Paternity Test Report Court
Our prenatal paternity test follows a strict chain-of-custody process with the DNA sample collection witnessed, giving you legal, court-admissible paternity test results. Some people choose to collect the possible fathers DNA sample at home with just a cheek swab, but there are important differences in the test reports.
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Getting A Dna Test While Pregnancy:
You might be wondering whether a DNA test during pregnancy will be safe or notno worries, as we ensure that it is entirely safe and can be done quickly.
DNA tests can give you a tremendous amount of information about yourself and your ancestral history. DNA testing has been known to let people know the regions where their ancestors lived in more detail than ever before, even if they were unsure what country or region their family came from!
DNA tests are a great way to learn more about your familys past.
The DNA test is a popular way to find out more about themselves. If youre looking into whether or not your genes could be linked with an illness, this will help you diagnose the problems at hand quickly and efficiently!
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First Trimester Screening Tests And Dna Tests
Some common screening tests and DNA tests while pregnant that are safe to do before the baby is born, include the following:
- First trimester DNA screenings such as cell-free fetal DNA or Non-Invasive Prenatal Testing at 10 weeks to check for genetic disorders such as down syndrome or abnormalities with sex chromosomes.
- Sequential screening which combines blood tests and ultrasound imaging to look for the risk of spina bifida, trisomy 18, Down syndrome, and certain brain health problems. This test is conducted quite early in the pregnancy, between 10 and 13 weeks.
- Integrated Screening: This common screening test while pregnant has the same procedure as sequential screening, and it tests for the same risks. However, this test is more comprehensive because you get the initial test when you are12 weeks pregnant, and the follow-up test is conducted later in your pregnancy, in your second trimester.
Who Is Offered Testing
All pregnant women, regardless of age, have the option to undergo prenatal testing.However, as women age, the chance of having a baby with a chromosomal abnormalityincreases. So the age of the mother is the most common reason for prenatal testing.
Other reasons that a woman may be offered prenatal testing include:
- Family history or a previous child with a genetic condition
- Parents who are known carriers of a specific genetic condition
- Abnormal ultrasound findings
- Screening test results
Any woman who desires more information about the developing fetus can consider prenataltesting. The decision is an individual choice. A woman should discuss the variousoptions outlined above with her obstetrician or a genetic counselor to determine whichare right for her.
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Who Should Get Genetic Testing
The decision to get prenatal genetic testing is a personal choice. Ask your healthcare provider what they recommend if youre unsure. The results provide important information about the health of the fetus. Healthcare providers offer all pregnant families genetic screening as part of their pregnancy care.
Some of the reasons families will choose diagnostic genetic testing during pregnancy are:
- Irregular result of a genetic screening test.
- Family or personal history of genetic conditions.
How Is Fetal Monitoring Performed
Using a fetoscope to listen to the fetal heartbeat is the most basic type of fetal heart rate monitoring. Another type of monitoring is performed with a hand-held Doppler device. This is often used during prenatal visits to count the fetal heart rate. During labor, continuous electronic fetal monitoring is often used. Although the specific details of each procedure may vary, standard electronic fetal monitoring follows this process:
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Gel is applied to your abdomen to act as a medium for the ultrasound transducer.
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The ultrasound transducer is attached to your abdomen with straps so it can transmit the fetal heartbeat to a recorder. The fetal heart rate is displayed on a screen and printed onto special paper.
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During contractions, an external tocodynamometer can record the pattern of contractions.
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How Early Can I Take Dna Test In Pregnancy
If you are interested in having the DNA test done during pregnancy, then you probably want to know how early it can be done. It varies based on the type of testing you want to do.
1. Non-Invasive Prenatal Paternity
A form of non-invasive prenatal paternity testing can be done when you are at the 7th or 8th week of pregnancy. This requires a simple blood test instead of invasive procedure, meaning there isnt a risk of miscarriage. You will need your blood tested and the potential father also needs to be tested. The results will look at DNA fragments from the fetus, which are in your blood in small quantities.
2. Chorionic Villus Sampling
3. Amniocentesis
If you are already at 14 to 20 weeks in your pregnancy, then you can use amniocentesis as a DNA test while pregnant. During this procedure, your doctor inserts a needle into the amniotic sac within the uterus. They then withdraw fluid. This most common use of this procedure is for testing lung maturation in pregnancy, especially in case of a possible premature birth, but it can also be used for DNA testing.
There is a small risk of harm to the baby or miscarriage. You may also notice cramping, vaginal bleeding, or amniotic fluid leakage. You also need doctors consent for this method of paternity testing.
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What Do The Results Mean
If your results were negative, its unlikely that your baby has Down syndrome or another trisomy disorder. If your results were positive, it means there is an increased risk that your baby has one of these disorders. But it cant tell you for sure if your baby is affected. For a more confirmed diagnosis youll need other tests, such as amniocentesis and chorionic villus sampling . These tests are usually very safe procedures, but they do have a slight risk of causing a miscarriage.
If you have questions about your results, talk to your health care provider and/or a genetic counselor.
Learn more about laboratory tests, reference ranges, and understanding results.
When Will I Be Offered Screening
Different screening tests are offered at different times during pregnancy.
The screening test for sickle cell and thalassaemia should be offered as early as possible before 10 weeks of pregnancy.
It’s recommended that screening blood tests for HIV, hepatitis B and syphilis should happen as early as possible in pregnancy.
This is so you can be offered specialist care and treatment to protect your health and reduce the chance of your baby getting infected.
These blood tests should not be delayed until the first scan appointment.
You’ll be offered screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome around the time of your dating scan, which happens when you’re around 11 to 14 weeks pregnant.
You’ll be offered screening to check your baby’s development at a 20-week scan when you’re around 18 to 21 weeks pregnant.
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Video: Screening For You And Your Baby
This video shows which tests are available during pregnancy and after your baby has been born.
You can watch translated versions of this video on Vimeo.
You’ll be offered some screening tests during pregnancy to try to find any health conditions that could affect you or your baby.
The tests can help you make choices about further tests and care or treatment during your pregnancy or after your baby’s born. All screening tests offered by the NHS are free.
Other Types Of Dna Tests That Can Be Done During Pregnancy
If you are pregnant then genetic testing can be a useful tool, not only for determining paternity, but also to discover if your baby is at risk of carrying genetic diseases. For a long time, pregnancy testing such as amniocentesis and Chorionic Villus Sampling were used but those tests are quite invasive and carry a risk of potential miscarriage or harm to the baby.
DNA tests that can be used to alert the parents-to-be of genetic abnormalities are generally done with blood tests and an ultrasound between 10 and 13 weeks. With another genetic marker scan and DNA test available to parents between 15 and 20 weeks.
These tests are referred to as NIPT or non-invasive prenatal tests or NIPD .
NIPT can be used to test for altered genes, the gender of the baby and can detect Down Syndrome and other conditions. This is a non-invasive test because it uses a drop of blood from the mother and uses free cells that can be found in her bloodstream. It doesnt rely on the cells found in the amniotic fluid like amniocentesis or CVS.
Now that DNA testing is more accessible to consumers through a wide variety of companies mothers-to-be have the option to learn a lot of important information about their baby before the child is born.
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What If Cvs Is Not Possible
Women with twins or other higher-order multiples usually need sampling from each placenta. However, because of the complexity of the procedure and the positioning of the placentas, CVS is not always feasible or successful with multiples.
Women who are not candidates for CVS or who did not get accurate results from the procedure may require a follow-up amniocentesis. An active vaginal infection, such as herpes or gonorrhea, will prohibit the procedure. In other cases, the doctor may take a sample that does not have enough tissue to grow in the lab, generating incomplete or inconclusive results.
Whats The Best Dna Test Kit
You should try to find a provider or genetic counselor near you to perform DNA testing. They will order the correct tests and then talk to you about what they mean. But if you cant go through your healthcare provider, you can get a DNA test kit directly from a DNA testing company. These test kits are called direct-to-consumer genetic tests. The best DNA test kits offer easy-to-understand information about the scientific basis of their tests, but it is risky to use them because there may not be anyone you can speak to personally about the results.
If you test positive for a genetic condition or find that you have a higher risk of developing a disease, you should call your healthcare provider. They can put you in touch with a genetic counselor who can evaluate you and the information you have and help you decide what to do next.
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What Is Nuchal Translucency
Nuchal translucency is a collection of fluid under the skin of all babys necks. The test measures the thickness of the fluid. If it is thicker than normal, it means that the baby could have Down syndrome or other genetic abnormalities. This test is also not a diagnosis, but gives a measure of risk.
Diagnostic Genetic Testing During Pregnancy
Chorionic villi sampling A small sample of placental tissue is obtained either transcervically or transabdominally under ultrasound guidance between 11-13 weeks of gestation.
Amniocentesis A small sample of amniotic fluid is removed by placing a needle into the amniotic cavity under ultrasound guidance after 16 weeks gestation.
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Scientific Journal Articles For Further Reading
Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy. Obstet Gynecol. 2015 Sep 126:e31-7. doi: 10.1097/AOG.0000000000001051. PubMed: 26287791.
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet. 2015 Apr 1. doi: 10.1038/ejhg.2015.56. PubMed: 25828867.
Goldwaser T, Klugman S. Cell-free DNA for the detection of fetal aneuploidy. Fertil Steril. 2018 Feb 109:195-200. doi: 10.1016/j.fertnstert.2017.12.019. PubMed: 29447662.
Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016 Oct 18:1056-65. doi: 10.1038/gim.2016.97. Epub 2016 Jul 28. PubMed: 27467454.
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