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The fear that a child will suffer from some kind of birth defect or genetic disorder can be the worst thing an expectant parent can experience.
Fortunately, advanced genetic testing during pregnancy allows for early diagnosis and early intervention. However, these options are not mandatory as they come with limitations and may carry certain risks. Therefore, it is important to have a good understanding of what fetal genetic testing is in order to make the best prenatal care decisions.
Genetic Testing Done During Pregnancy
Read on to learn about five types of prenatal genetic testing, divided into two groups: genetic problems (such as maternal blood, ultrasound, and noninvasive prenatal testing) and diagnostic problems (such as chorionic villus sampling and amniocentesis).
Prenatal Genetic Testing
Prenatal genetic testing is a set of tests performed during pregnancy to determine whether the fetus is at risk or has certain genetic disorders.
Couples with one or both partners who are carriers of a specific genetic disorder undergo preconception genetic testing to assess their hereditary risk.
Although all women should have noninvasive prenatal genetic testing, diagnostic tests are usually recommended when screening tests show positive or inconclusive results or when women are at high risk for a genetic disorder:
Prenatal genetic testing can detect chromosomal abnormalities, gene mutations, and neural tube defects that can lead to birth defects and genetic disorders, including:
New Prenatal Genetic Testing Could Predict Your Baby
The five types of prenatal genetic tests are divided into two groups, those used for screening and those used to detect other genetic abnormalities.
The first group of trials focused on genetic testing during pregnancy to assess the risk of genetic abnormalities in the child compared to the general population. They are non-invasive, do not cause serious side effects and are given primarily to pregnant women in the absence of risk factors or other symptoms and do not need to go directly to diagnostic tests.
Maternal blood serum is a type of prenatal blood test that is usually given to all pregnant women during the first and second trimester to determine the risk of chromosomal abnormalities.
Prenatal ultrasounds are non-invasive tests offered to all pregnant women to monitor fetal development, detect pregnancy complications, and determine the risk of birth defects in the fetus.
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NIPT, also known as cell-free fetal DNA testing, is not recommended for all women. Instead, with the exception of multiple pregnancies, it is recommended for those who are at low risk and at risk of having a child with a genetic disorder.
This innovative form of prenatal genetic testing is usually performed at 10 weeks of pregnancy. It uses a sample of the mother’s blood to test for small pieces of DNA that have passed from the placenta into the bloodstream.
The second group of prenatal genetic tests are diagnostic tests. Because of their high invasiveness, screening tests are recommended to women when they indicate a potential abnormality or when women have known risk factors.
Chorionic villus sampling (CVS) is a diagnostic genetic test in which tissue from the placenta is removed from the uterus to check for birth defects and genetic conditions such as cystic fibrosis or sickle cell anemia. CVS is performed in the first trimester between the 10th and 13th weeks of pregnancy.
Genetic Testing: Uses, Side Effects, Procedure, Results
Amniocentesis is another prediagnostic genetic test in which a sample of amniotic fluid is taken from the uterus and tested for genetic disorders and birth defects. It is usually done in the second trimester, between the 15th and 20th week.
Because chorionic villus sampling and amniocentesis are invasive genetic prenatal tests, they carry a risk of miscarriage of 1% 1 and 0.25–0.5% 2 , respectively.
Although not mandatory, all five types of prenatal genetic testing are an important part of prenatal care because they can determine whether a baby is at risk or has certain genetic conditions. All women are offered non-invasive genetic testing during pregnancy, including blood tests and ultrasounds. Some people, including those with known risk factors such as advanced age or chronic diseases, may be referred for invasive diagnostic genetic tests such as amniocentesis.
However, the difficulty with this decision lies not only in the risk of miscarriage with diagnostic genetic tests, but also in the question of what to do next. Some couples do not choose to find out if their child has a genetic disorder, while others may need time to prepare, arrange an adoption, or consider an abortion. Overall, being well-informed and doing research can help couples make better choices for their future. Genetic testing during pregnancy can be overwhelming. Here we break them down to help you make the best decisions for you and your baby.
First Trimester Screening During Pregnancy, Prenatal Tests & Scans
Genetic screening during pregnancy can seem daunting to parents. There are many tests and many options. But remember that all the decisions you make are yours. Despite the recommendations and statistics, sometimes you can have the last word. Let’s break down some of the tests you’ve requested to give you a better idea.
“The advantages of screening tests are that they do not pose any risk to you or your miscarriage, and they provide additional information about your chances of having certain birth defects during pregnancy. The limitations of screening tests are that they do not tell you whether or not your baby has a birth defect.” “yes or no” answer, and they only provide information about a small number of birth defects. Screening tests are designed to determine a more precise risk (or likelihood) of birth defects, and most women who have screening tests use them to decide whether they want to undergo further diagnostic testing.
Serial Screen This screen determines the risk of neural tube defects such as Down syndrome, trisomy 18, and spina bifida. First, you need to undergo an ultrasound to check the development of the baby’s neural tube. After the ultrasound, a genetic counselor will meet with you to discuss the results and next steps.
At this point, the patient must decide how to proceed. My husband and I decided what to do after a few minutes. Your options are usually to opt out or continue with the blood test for Down syndrome and trisomy 18. If you continue with blood work, you will receive results in a few weeks to determine if further diagnostic testing is necessary.
Genetic Testing And Pregnancy
Maternal Screening This screen is performed by blood sampling at 15-21 weeks of pregnancy. This is another non-invasive test to detect Down syndrome, trisomy 18 and neurological deficits. This is usually done in mothers who do not have a serial screen in the first trimester.
Week 18-22 Ultrasound During this ultrasound, mothers-to-be often find out the sex of their baby, but there’s more to it than that. Your ultrasound technician can detect possible heart defects, cleft lip, kidney problems, brain and limb abnormalities. If any signs of a potential problem are found, a genetic counselor will discuss your options in detail.
CVS (Chorionic Villus Sampling) The CVS test is performed early in pregnancy, usually at 10-13 weeks, and closely monitors whether the baby has Down syndrome, trisomy 18, or trisomy 21. This test examines a small area. mother’s placenta to determine the risk of chromosomal abnormalities. According to Northwestern Medicine, the risk of miscarriage after CVS is 1/250 to 1/300.
Amniocentesis Amniocentesis can be done at any time during pregnancy, but is usually done between 15 and 18 weeks. Again, this test gives a good look at your baby’s risk for Down syndrome, trisomy 18, 13, and other abnormalities. A sample of amniotic fluid is taken when a needle is inserted into the mother’s abdomen. Amniotic fluid contains the baby’s cells, which can be checked by genetic testing. Northwestern Medicine assigns a 1/500 to 1/1000 risk of miscarriage after amniocentesis.
Genetic Testing During Pregnancy: What You Should Know
Genetic testing during pregnancy is a serious matter. Knowledge and time will help you and your child process all the information and make better decisions.
This writer is a member of the editorial board. Our team of parents, experts, and content experts are dedicated to bringing you the most accurate and up-to-date information in the parenting space. Danger to the fetus
I have two children. At this point, all I know about their genomes is that they both have 46 chromosomes, one XY and one XX.
I treat them equally and consider them equally capable. But what if I know my daughter has the “smart” gene and my son doesn’t? When he comes home from school with a B, shouldn’t I think it’s his genes and push him to try harder? I wish I knew this before he was born
Noninvasive Prenatal Genetic Testing
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