Pregnant patients are offered blood tests to identify the chance of certain genetic conditions, such as Down syndrome, and the predicted sex of the pregnancy, if desired. These blood tests are considered screens. The purpose of a screen is to identify pregnancies that are more likely to have a genetic condition and then offer more robust diagnostic testing either while the person is still pregnant or after birth.

We are all linked to our relatives through our genes. Our parents pass down genetic information that influences traits like hair texture, eye color, height, and even the likelihood of developing conditions like diabetes.

Environmental factors also play a significant role. For example, while someone's genes may predispose them to be tall, if they do not have enough nutrition growing up, they may be shorter than their genes would suggest.

Genetic information can offer valuable insights into our health and that of our children. A genetic counselor can assist in reviewing your family history to identify potential inherited conditions.

When it comes to fertility, much of the focus is often on female reproductive health. However, it's important to remember that conception is a two-way street, and male factors can play a significant role. One such factor that is gaining attention is sperm DNA fragmentation. In this blog post, we'll explore what sperm fragmentation is, its potential implications on fertility, and what can be done if you suspect it may be a concern.

There are a ton of tests performed in pregnancy and what seems like an endless checklist. Included in those tests may be genetic assessments such as carrier screening or general screening. Each genetic test is evaluating for different conditions in a different way. Check out the informational page on the testing available in pregnancy. In this blog post, I’ll reference organizations that can be used to better understand the more common conditions assessed, but this is not a comprehensive list of the conditions nor organizations.

In this blog post, we will get a bit technical and discuss the difference between two diagnostic tests that are available: karyotype and microarray analysis. Someone may be offered either one of these analyses either for themselves or for their pregnancy. The post will start with a review of chromosomes as this is what both of these analyses will ultimately evaluate and then the differences between the two in the context of pregnancy. In order to perform the karyotype or microarray analysis in pregnancy, a procedure like the chorionic villi sampling (CVS) or amniocentesis would need to be performed. Check out the links to learn more about the procedures.

Embarking on the journey of preimplantation genetic testing for monogenic disorders (PGT-M) can be both exciting and anxiety-inducing. PGT-M offers a potential option for your future family, but it also raises questions about how to obtain the necessary genetic information. If the thought of requesting DNA samples and genetic test reports from your relatives makes you uncomfortable, you're not alone. In this blog, we'll discuss strategies to navigate PGT-M without feeling uneasy about involving your family members.

In this post, I want to explore whether we really are in GATTACA already.

You might have recently received a call from a nurse or genetic counselor, perhaps someone you've interacted with before, or perhaps not. Alternatively, you may have logged into your patient profile and come across a test result indicating something like "increased risk," "positive," or "high likelihood."

The outcome might have taken you entirely by surprise, and you might be pondering what steps to take next. It's crucial to note that this blog post serves as a bridge between receiving the initial result and having a conversation with your doctor, and not as a substitute for medical advice.

It’s not that what you think doesn’t matter, but what other’s think does influence your decisions. Social norms play a significant role in shaping our decision making as individuals. Countless studies have shown the profound impact of social norms on our behavior and choices. In one study conducted by Cialdini et al. (2006), participants were more likely to litter in a public environment once they observed someone else engaging in such behavior. This study demonstrates the power of social norms in influencing our actions and decisions by signaling what is considered acceptable within a given social context. Additionally, another study by Nolan et al. (2008) found that individuals were more likely to conserve energy when they received feedback indicating that their energy consumption was higher than their neighbors'. The findings from these studies highlight how social norms affect our decisions even if we don’t realize how influential they are.

Carrier screening has been around for decades, starting with assessment for conditions like cystic fibrosis and sickle cell disease. Nowadays, there is the ability to test for hundreds of conditions, some of which can be difficult to predict the inheritance or resulting features of the condition. In genetics, there is a constant battle to weigh information seeking with possible uncertainty and unexpected results.

Carrier screening and more studies are revealing for some carriers, they may have symptoms of a condition. In a recent article, Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy, there was focus on symptoms that might arise in pregnancy in order to ensure patients are monitored appropriately. This blog post will discuss the findings of the article in more detail.