Genetic Testing For Reproductive Care
Genetic Testing For Reproductive Care
Karena Peterson, 1/27/25
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In the past few decades, the field of genetics has been rapidly expanding and improving, allowing for a better understanding of the human body's biological processes. One area that has seen significant improvement is that of genetic testing. While it has existed for decades, recent years have led genetic testing to be faster and easier, making it much more viable as a tool to make decisions such as those regarding reproduction.
Uses in Reproductive Healthcare
Genetic testing is critical and multifunctional in reproductive healthcare. While it is commonly used for identifying parents who are carriers of a disease, it can also be used to identify the cause of infertility and give guidance as to what reproductive assisting technique would be most fitting. Additionally, genetic testing can be done during pregnancy to identify possible birth defects before the baby is born.
Carrier Tests
Carrier tests are blood tests done on one or both parents to identify recessive gene mutations that, if both parents carry them, could result in the baby being born with a genetic disorder. These tests only have to be completed once in a person’s life.
Infertility Tests
Genetic testing for infertility is vital in helping with reproduction. There are common tests for specifically male infertility, such as a karyotype analysis. Similarly, females can also use genetic tests, such as ovarian reserve tests to determine the quality and quantity of eggs in the ovaries, to help resolve issues with infertility.
Prenatal Tests
As for testing during pregnancy, multiple tests fall under either screening or diagnostic. A screening test would show if the baby is at higher risk for certain genetic disorders, such as Down syndrome, but cannot be confirmed. Prenatal screening tests often include those done in the first trimester, such as blood tests of the mother for the amount of certain substances in the blood and/or an ultrasound of the fluid-filled space at the back of the baby's neck (called nuchal translucency, larger measurements can indicate certain conditions such as Down syndrome or Edwards syndrome). Second-trimester screening tests offer other types of blood tests called quad screening, which measure four different substance levels, such as alpha-fetoprotein (AFP) in the mother’s blood. Additionally, several tests can be done during every trimester, such as cell-free DNA screening. Once the fetus is at 10 weeks, this test looks for the baby’s DNA within the mother’s bloodstream and finds common chromosome abnormalities.
Diagnostic tests are capable of confirming defects if the screening test or other information raises concern. The most common diagnostic tests are chorionic villus sampling (CVS) and amniocentesis. While both tests involve the insertion of a needle into the uterus to gather samples, there are a few key differences. CVS gathers a small sample of cells from the placenta, while amniocentesis takes a sample of the amniotic fluid in the amniotic sac. Additionally, CVS can be done via multiple access points based on which option is safer and occurs between 11 and 13 weeks of pregnancy. Amniocentesis, on the other hand, is done through the skin between 16 and 20 weeks. A detail to consider when using diagnostic tests is the slight risk of miscarriage.
Ethical and Political Impacts
Besides the medical implications and uses, there are also worldwide impacts related to reproductive care. Politically and ethically, genetic testing for reproductive decisions has effects.
Recent advancements have led to policy changes in certain countries, such as the United Arab Emirates (UAE). The UAE, starting January 2025, is legally requiring premarital genetic testing. These tests are intended to make couples aware of future complications and potentially reduce inherited disease.
Rapid developments in genetic testing continuously raise ethical considerations. There have been multiple critiques against genetic testing for reproductive decisions, such as the difficulties of removing genetic data once stored, privacy, potential insurance difficulties, and unfair discrimination. Additionally, an individual's religion may raise their respective conflicts.
Genetic testing is critical to healthcare in general and regarding its various purposes in reproductive care. For instance, the variety of tests before, during, and after pregnancy for genetically inherited diseases can inform and warn the parents and doctors about future challenges. However, some have raised potential consequences, such as those concerning privacy and insurance issues, in addition to the benefits. In general, healthcare workers are under instruction to leave their ethics and beliefs out of the patient's care, but the implications may be something to consider for oneself.
Resources
UAE to introduce mandatory premarital genetic testing for Emiratis from January | The National
Pregnancy Genetic Testing: What It Is, Options, Benefits & Risks
Prenatal testing: Is it right for me? - Mayo Clinic
When Should You Consider Prenatal Genetic Testing? - UMMS Health
The evolving role of genetic tests in reproductive medicine - PMC
Female infertility - Diagnosis & treatment - Mayo Clinic
Genetic testing for men with infertility: techniques and indications - PMC
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