When you dream of your future family you don’t necessarily envision any problems. Pregnancy comes easily, labor is a breeze and you deliver a healthy beautiful baby. For many couples that’s true. But, in the United States, one out of every 33 babies is born with a birth defect.
Birth defects remain the leading cause of infant mortality in the U.S. Some birth defects, such as fetal alcohol syndrome, have a specific cause, but for many others the cause of the defect is unknown. Factors are complex and often a mix of many different things. Genes are a strong indicator of the potential for certain birth defects. That’s why genetic testing and counseling is a good idea, even for those who don’t presume to have fertility issues.
Certainly if you or your partner have a genetic predisposition to diseases such as cystic fibrosis, or if you or your partner fear your baby may inherit disorders such as sickle cell, or fatal conditions such as Fragile X and Tay-Sachs, doctors will recommend genetic testing. But what about those couples who are not high-risk? Are there advantages to genetic testing beyond known risks and fertility issues?
When you opt for genetic screening the tests tell you if you are a carrier of certain diseases and conditions that you could pass on to your child. Should you test positive for any potential conditions then the physician will test your partner as well. If his tests show a genetic predisposed risk for the same disease or condition, and you are pregnant, then your physician will recommend testing for your fetus.
During pregnancy there are two tests available to screen for genetic defects. The first is chorionic villus sampling, or CVS. CVS is a test done early in pregnancy (typically the first trimester.) that detects congenital abnormalities in your fetus. The fetal portion of the placenta is the chorion. Your doctor takes a tissue sample of the chorionic villi to test for specific conditions as indicated through the parents’ genetic screening.
The sample is usually taken through the cervix and has very minimal risks associated, especially after 10 weeks gestation. CVS is a highly dependable way to confirm or rule out a diagnosis of a genetic condition.
After you enter the second trimester you can have amniocentesis to assess for abnormalities. This test draws a small sample of amniotic fluid directly from your uterus. The fluid contains fetal cells and proteins. While the test is highly reliable it does carry a higher number of risks which your doctor will discuss.
Genetic Testing Prior to Pregnancy
Couples who opt for genetic testing or counseling prior to conception and test positive for conditions and diseases they could pass on to their offspring have options to mitigate their unborn baby’s risk of birth defects. IVF offers parents the ability to become pregnant with a healthy embryo and drastically lowers the odds of giving birth to a child with a genetic disorder. Preimplantation genetic testing (PGT) tests embryos for certain genetic disorders prior to implantation into the uterus.
The doctor harvests your eggs and fertilizes them with your partner’s sperm through IVF and embryos develop. In PGT, the lab takes a sample of one of the stem cells from each embryo to analyze and compare the embryo DNA to standard DNA. This helps identify genetically normal embryos. The doctor implants a healthy embryo into the uterus and the risk of birth defects is greatly diminished.
For couples with no known genetic risks screening is entirely up to you. Before you make your decision there are a few things you and your partner need to consider.
What Will The Results Mean to You?
In other words, how will you proceed if you both screen positive for potential issues? For those who aren’t yet pregnant this means you will have options to help ensure a healthy outcome. A normal test will ease your anxiety. For those who are pregnant and receive results indicating a strong possibility of a birth defect you will have an opportunity for counseling on your options.
You Will Be Able to Plan
Knowing and understanding the genetic disorder for which your baby is at risk allows you to plan for prenatal care. You can also anticipate the care your baby will need when they are born. Treatment for some conditions occurs while you are pregnant. If you aren’t yet pregnant you can begin to investigate IVF as a means to a healthy pregnancy and birth.
Knowing What to Anticipate
For those couples who are anxious to know the odds of their baby being born with a birth defect or unrealized genetic condition it’s imperative you speak to your doctor. Contact LA IVF and schedule a consultation. We will help guide you through your genetic testing and provide counseling to help you understand the outcome.