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If you’re considering having children, you may be wondering about the risk of genetic conditions and congenital anomalies. Many people are surprised to learn that even in the general population, about 3% to 4% of all babies born in the United States have congenital abnormalities that affect their appearance, development, or function.¹ These can range from minor conditions to significant medical concerns that require lifelong care. 

According to the Center for Disease Control (CDC)², in 2021, the prevalence of developmental disabilities (DD), intellectual disability (ID), and autism spectrum disorder (ASD) in children aged three to 17 years was 8.56%, 1.65%, and 3.05%, respectively.³ Additionally, a study published in 2022 found that approximately 2.8 million children in the U.S. have a reported genetic condition.⁴ 

Does Family History Play a Role? 

Yes, congenital conditions, be it a birth defect, intellectual disability, or genetic condition, are more common in individuals with a family history of them. However, it is a misconception that these conditions only occur in these families. Many people without a known family history still have a child affected by a genetic or congenital condition. 

While genetic conditions are, by definition, caused by genetic factors, congenital anomalies, DD, ID, and ASD can result from genetic influences, environmental factors (such as infections, medication exposure, or maternal diabetes), or a combination of both. 

Can You Reduce the Risk? 

Absolutely. 

Can you completely prevent these conditions from occurring? Unfortunately, no. 

However, there are steps you can take to lower the chances of having a child with a congenital condition. 

How You Can Reduce Risk for Yourself 

While choosing a carefully screened donor is one way to reduce risk, there are additional steps you can take: 

1. Pursue Preconception and Prenatal Care: Speak with your healthcare provider about the risks associated with any current medications, maternal conditions like epilepsy and diabetes, and your overall health. 

2. Consider Carrier Screening for Your Egg Source: While sperm donors are screened for autosomal recessive conditions, females undergoing expanded carrier screening (ECS) are also tested for X-linked conditions, where inheritance depends solely on the egg source. 

3. Know Your Egg Source’s Family Medical History: Whether using your own eggs or a donor’s, understanding the family’s health history can provide valuable insights into potential genetic risks. 

4. Explore Preimplantation and Prenatal Testing Options: Genetic testing has evolved, providing a range of options, including: 

1. Preimplantation Genetic Testing for Aneuploidy (PGT-A): Screens embryos for chromosome abnormalities before implantation. 

2. Preimplantation Genetic Testing for Monogenic Conditions (PGT-M): Identifies specific genetic conditions in embryos before implantation. 

3. Noninvasive Prenatal Screening (NIPS): A blood test that screens for common chromosomal abnormalities in a fetus. 

4. First-Trimester Ultrasound & Maternal Serum Screening: Helps assess early pregnancy health. 

5. Detailed Anatomy Scan: A thorough ultrasound examining fetal development. 

6. Chorionic Villus Sampling (CVS) & Amniocentesis: Diagnostic tests that provide more definitive genetic information. 

With so many testing options available, it can feel overwhelming. Each test has its own benefits and limitations, and no single test can identify all possible genetic risks. Consulting with a genetic counselor can help you navigate these choices and determine the best course of action for your family. 

The Bottom Line 

While nothing can eliminate the risk of genetic conditions, taking proactive steps—such as choosing a rigorously screened donor, undergoing carrier screening, and utilizing prenatal genetic testing—can help you make informed decisions for your family’s future. By understanding these risks and options, you can take an active role in planning a healthy pregnancy. 

If you have questions about genetic risks, reproductive options, or testing, consider scheduling a consultation with a genetic counselor. Knowledge is power, and the more you know, the better prepared you’ll be for the journey ahead.