Introduction to prenatal screening

Approximately 70% of rare diseases affect children, and tragically, a third of these children pass away before their fifth birthday. This highlights the critical need for early detection, particularly through prenatal screening.

Prenatal screening gives parents and healthcare providers the opportunity to prepare for any special care a baby might need at birth or soon after. Early preparation, timely interventions, and appropriate support can greatly improve the health outcomes of both the child and their family.

Understanding what to expect can also help parents emotionally prepare for the challenges ahead. Whether planning to care for a child with special needs or facing difficult decisions during pregnancy, having clear and reliable information is vital.

This course equips patient groups with the knowledge and tools needed to guide their communities through prenatal screening. It explains the types of tests available, what they can reveal, and how to interpret the results.

By enrolling in this course, patient groups can empower their members to make informed, confident decisions and feel prepared to navigate potential outcomes with knowledge, care, and support.

With thanks to:

Nicole (Nikki) Legro, who volunteered with Beacon in 2024!

Nikki researched and wrote this guide for our rare disease charity on a voluntary basis.

My name is Nikki! I’m an Obstetrics and Gynecology resident at MedStar Washington Hospital Center/Georgetown University Hospital.

My passion for genetics started during my undergraduate studies at the University of Toronto, where I explored yeast biology. Since then, I’ve worked to combine my love for genetics with advocacy for rare diseases—all while practicing as a women’s health provider and delivering lots of babies along the way.

Full bio

I’ve had the privilege of working with both NIH and Stanford’s Undiagnosed Diseases Program, contributing to the identification of a new neurodevelopmental disorder linked to mutations in FAM177A1.

During medical school at Penn State, I founded the Medical Genetics Interest Group and conducted research at the Clinic for Special Children, which serves Amish and Mennonite families.

I plan to pursue combined specialty training in Maternal-Fetal Medicine and genetics, with a focus on prenatal screening, early identification of fetal anomalies, and managing complex pregnancy conditions.

My goal is to improve outcomes for families affected by rare genetic conditions through research, clinical care, and advocacy.

With thanks to the Funders of The Empowerment Programme 2024



Resource type

Course



Skill level

Beginner



Duration

1 hour



Last updated

January 2025



Resource type

Course



Skill level

Beginner



Duration

1 hour



Last updated

January 2025

What will you learn in this course?

What prenatal testing is
The different types of tests that are involved in prenatal screening
The benefits and risks of prenatal screening
How to interpret prenatal screening results
A case study from a patient group leader who has experience with prenatal screening

Who is this course for?

This guide is for all rare disease patient groups who want to better support their community by understanding the journey they’ve been through to get a diagnosis.