ACMG Annual Clinical Genetics Meeting

Toronto, Canada

Integrating technologies: Ultrasound and cfDNA screening in twin pregnancies

Despite overall limited data on cell-free DNA (cfDNA) testing in twin gestations, MaterniT 21 PLUS has demonstrated high sensitivity and specificity in screening for trisomy 21 in twins from the first trimester of pregnancy (comparable to that observed in singleton pregnancies), as well as promising performance in screening for trisomies 13 and 18, according to the results of a newly published study.1 Hear from our experts about the nuances of twin pregnancy care as we combine ultrasound expertise with the latest research review on fetal cfDNA screening.

Genetic Counseling: Supporting the provider and patient through the rare disease diagnostic journey

Hear from our subject matter experts about how genetic counselors can help you navigate the complex journey through rare disease, creating practice efficiencies and optimizing patient care.  

PCOS: more than just a reproductive issue

Polycystic ovary syndrome (PCOS) is most commonly diagnosed in women and people assigned female at birth (AFAB) between the ages of 20 and 30, but it can happen at any age. While it’s often discovered after difficulty conceiving, PCOS is more than just a cause of infertility; it’s a lifelong condition with potentially serious health impacts if not managed properly. This makes it important to know the signs, symptoms and effects of PCOS at any age.

A mother's mission to save lives by raising preeclampsia awareness

For many, pregnancy can be a very special and personal milestone. It’s also a dynamic time: both mother and baby change and evolve daily. Anything involving rapid change also comes with the potential for complication. When it comes to pregnancy, one of the most dangerous complications is preeclampsia.Preeclampsia symptoms usually involve a mother’s blood pressure spiking to dangerous levels. This can lead to other complications—including seizure, stroke, multiple organ failure and death of the mother or baby. These complications can occur as early as 20 weeks—and in some rare cases—even earlier. However, when caught early, your healthcare provider team can help navigate preeclampsia and improve pregnancy outcomes.Theresa Dunn was diagnosed with preeclampsia near the end of her first pregnancy and then again during her second pregnancy. She knows firsthand how vital it is to understand the symptoms and advocate for yourself during pregnancy. This is why she’s passionate about sharing her preeclampsia experience to empower, advocate and educate.

Be your own health ally—and a health ally for women in your life

The numbers are in: Women are driving healthcare and wellness for their families, with 80% being the primary healthcare decision makers for their households. If you’re a woman making these decisions for your family, it’s important not to forget about your own health. Equity gaps in women’s health have not helped—in fact, a 2019 study of health data from 6.9 million Danish people found that across hundreds of diseases, women on average were diagnosed four years later than the age at which the conditions were recognized in men.