Reproductive

Infertility is a complex yet common medical condition. It is estimated that 10 to 15 percent of couples experience infertility. Treatments include a range of options from fertility preservation; sperm,...

It is often said that home is where the heart is. But thanks to the pandemic, most of us have had the rest of our bodies in our homes as well. We have become homebodies in every sense of the word: home is where we are hanging our hats, book bags, briefcases … and sweatpants. Over the course of the pandemic, millions of people have met with their doctors from home as well. The benefits of remote health services are becoming well-documented. In fact, virtual health care may become the new normal. Many patients and providers have grown accustomed to the perks of remote health care including an increase in safety, convenience and efficiency and a decrease in cost and time. Genome Medical provided genetic services via telehealth and virtual care delivery even before the onset of the pandemic. Innovative care delivery models have been an important aspect of how we’ve expanded access to genomic medicine. Telemedicine is a particularly good fit for reproductive and prenatal genetic counseling services for two main reasons. First, pregnancy can be rough. Morning sickness, fatigue, heartburn and sleep disorders are only the tip of the iceberg of what women can experience during pregnancy. Meeting…

Yes, you can inherit breast cancer from your father, prostate cancer from your mother, and vice versa. Here’s why. “I look most like my dad, and he suffered from a...

Whether you’re currently pregnant or thinking of becoming so in the future, you might be wondering how best to proceed. While I was never a Boy Scout, I can totally get behind their motto to “Be Prepared”, especially when it comes to pregnancy. No doubt, pregnancy tests and prenatal vitamins are among the earliest supplies one should have stashed away in their Pregnancy Backpack, but they are far from the only ones and, in my humble opinion, certainly not the most important. Like any good scout, I think a map that provides a bird’s eye view of your pregnancy journey is a good place to start. In each pregnancy, there is a 3%-4% chance of a genetic condition, chromosome condition, birth defect or intellectual disability, many of which are not detectable through prenatal diagnostic or screening techniques. Before you begin your journey, or get too far down the path, knowing whether or not there is something in your personal or family health history that increases this risk can be useful. Examples of scenarios that could increase this risk include: Advanced maternal or paternal age A history of multiple miscarriages A personal or family history of a birth defect, genetic condition…

Huntington’s disease is a genetic condition that impacts the brain and, over time, affects a person’s ability to control the movement of the arms, legs, face and torso (called chorea)....

“Neurofibromatosis” can refer to one of three different genetic disorders: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. NF1 and NF2 are associated with an increased risk to develop certain types of benign (non-cancerous) tumors as well as cancers. NF1 is also associated with distinctive skin pigment differences (some of which can overlap with NF2) and, frequently, learning problems. In schwannomatosis, benign tumors called schwannomas develop on spinal and peripheral nerves and can be painful. About 1 in 3,000 people is affected with NF1. NF2 is less common, affecting about 1 in 25,000 people. Schwannomatosis is the least common, affecting about 1 in 40,000 people. Neurofibromatosis can be passed on from parent to child. NF1 and NF2 are known as “autosomal dominant,” which means that they arise from an abnormal gene inherited from a parent, even though the matching gene from the other parent is normal. In both NF1 and NF2, about half the people affected did not inherit the disorder from a parent. Instead, the disorder arose from a spontaneous change in the underlying gene. The inheritance patterns in schwannomatosis are more complex than those for NF1 and NF2. About 15 percent of people with schwannomatosis inherit…