Cystic Fibrosis: Merck Manuals Shares What Patients and Parents Need to Know

RAHWAY, N.J., June 17, 2026 /PRNewswire/ -- Cystic fibrosis is one of many conditions that can be screened for during prenatal genetic testing. For individuals with cystic fibrosis, or for those who may be wondering if they are a carrier, there can be many questions and uncertainties.

In a new editorial from MerckManuals.com, Dr. Gregory Sawicki, MD, MPH, Harvard Medical School, shares key information people should know about cystic fibrosis.

Cystic fibrosis is genetic

Cystic fibrosis is a hereditary disease that can cause certain glands to produce abnormally thick secretions, especially in the lungs and digestive tract. These secretions can lead to tissue and organ damage. Typical symptoms may include coughing, wheezing, and frequent respiratory tract infections throughout life, as well as abdominal bloating, loose stools, and poor weight gain.

Cystic fibrosis is caused by mutations in a specific gene

For patients planning for pregnancy, doctors can run blood tests to test for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are a number of variants of the CTFR gene, says Sawicki. Different variants may lead to varying disease severity. Doctors will often target treatments and approaches to disease management depending on the specific variant.

Screening for parents – and infants

Today, many individuals planning a pregnancy choose to be screened for cystic fibrosis, especially if the disease runs in the family.

But in addition to screening for hopeful parents, newborns in the United States are also screened for cystic fibrosis as a general hospital standard. Newborn screening is done using a simple heel-prick blood test shortly after birth, and can detect whether the infant has cystic fibrosis.

Cystic fibrosis treatments have advanced significantly in recent years

There is no cure for cystic fibrosis. But recently, advances in treatments have significantly improved outcomes in children and adults with cystic fibrosis. CFTR modulators are oral medications taken long term that improve the function of the defective protein made by variants in the CFTR gene. The overall outlook for people born with cystic fibrosis today is better than it was just a decade ago, says Sawicki.

Treatment of cystic fibrosis relies on multidisciplinary care to ensure all symptoms and aspects of the disease are addressed. An individual with cystic fibrosis will likely work with pulmonologists (doctors who specialize in treating lung disorders), dietitians, physical or respiratory therapists, social workers, and other healthcare professionals. Some will also see gastroenterologists and endocrinologists.

To read more of Sawicki's insights on cystic fibrosis, visit the editorial on MerckManuals.com.

About The Merck Manuals and MSD Manuals

First published in 1899 as a pocket-sized reference for physicians and pharmacists, The Merck Manual has evolved into one of the world's most trusted and widely-used medical resources. Today, it serves professionals and consumers alike with expert-authored, regularly updated medical content. Available in 16 languages and reaching nearly 250 countries, The Manuals offer far more than text. The website and mobile apps feature an ever-growing collection of videos, podcasts, infographics, and interactive 3D models designed for medical professionals, students, veterinarians, and curious consumers. For over a century, The Merck Manual has been fully committed to making reliable medical knowledge accessible to everyone, everywhere. Access The Manuals online in the United States and Canada at MerckManuals.com, and worldwide at MSDManuals.com.

About Merck

At Merck, known as MSD outside of the United States and Canada, we are unified around our purpose: We use the power of leading-edge science to save and improve lives around the world. For more than 130 years, we have brought hope to humanity through the development of important medicines and vaccines. We aspire to be the premier research-intensive biopharmaceutical company in the world – and today, we are at the forefront of research to deliver innovative health solutions that advance the prevention and treatment of diseases in people and animals. We foster a diverse and inclusive global workforce and operate responsibly every day to enable a safe, sustainable and healthy future for all people and communities. For more information, visit www.merck.com and connect with us on X (formerly Twitter), Facebook, Instagram, YouTube and LinkedIn.

SOURCE The Merck Manuals