There May Be a New Noninvasive Way to Diagnose Fetal Genetic Disorders

All it could take is a simple cervical swab.
save article
profile picture of Ashley Edwards Walker
By Ashley Edwards Walker, Contributing Writer
Published August 27, 2019
pregnant woman looking at sonogram
Image: iStock

All pregnant women are offered some form of prenatal genetic testing, if they want, to determine if their developing baby has any chromosomal abnormalities, such as Down syndrome. Right now, moms-to-be have a few choices: Either opt for an amniocentesis or CVS, both of which are invasive procedures that carry a small risk of miscarriage, or noninvasive prenatal testing, which screens for abnormalities but can’t offer a definitive diagnosis. Now, researchers believe they’ve found a way to offer moms the best of both worlds: A risk-free test that can deliver conclusive results.

Instead of using needles to harvest cells from the placenta, researchers at Brown University figured out a simple way to collect the same cells from a cervical swab.

The findings, which were recently published in the journal Scientific Reports, reveal a technique that isolates trophoblast cells, which are placental cells that carry the complete fetal genome. The cells are present in the cervical canal in early pregnancy. The problem is, there aren’t very many of them and it can be difficult to isolate the cells from other cells and mucus that are also present in the area. However, researchers discovered that when the cell mixture is placed on microwell plates used in clinical diagnostic testing laboratories, trophoblast cells have a tendency to settle to the bottom. This allows scientists to pick the cells up individually from the plate, collecting enough to perform the genetic testing.

“This is the first study to use cell settling for enriching trophoblast cells from a heterogeneous cervical cell population,” the report reads. “Ultimately, we provide a technique that is quick, inexpensive, minimizes cell loss and results in retrieval of individual trophoblast cells.”

The best part is that no specialized equipment beyond what a typical diagnostic lab would already have is needed to perform the technique. Doctors can take a cervical swab and have the cells necessary for genetic testing within a few minutes.

“There is a large need for biomedical engineering techniques toward advancing prenatal and women’s health,” Christina Bailey-Hytholt, a Ph.D. candidate in biomedical engineering at Brown and lead study author, explained in the report. “Our work is a step toward more non-invasive prenatal testing options.”

Please note: The Bump and the materials and information it contains are not intended to, and do not constitute, medical or other health advice or diagnosis and should not be used as such. You should always consult with a qualified physician or health professional about your specific circumstances.

save article
Article removed.
Name added. View Your List

Next on Your Reading List

pregnant woman undergoing nonstress test
Why Your Doctor Might Recommend a Nonstress Test Later in Pregnancy
Medically Reviewed by Kendra Segura, MD
doctor measuring pregnant woman's fundal height
Fundal Height: Why Is My Doctor Measuring My Belly?
Medically Reviewed by Kendra Segura, MD
doctor speaking with female patient medical office
Your Comprehensive Guide to Non-Invasive Prenatal Testing
Medically Reviewed by Kendra Segura, MD
pregnant woman lying on exam table getting an ultrasound
Your Complete Guide to Pregnancy Ultrasounds
Medically Reviewed by Kendra Segura, MD
pregnant woman holding photo of ultrasound
What Is the Nuchal Translucency Ultrasound?
Medically Reviewed by Kendra Segura, MD
pregnant woman getting an ultrasound
Why You Might Need a Biophysical Profile in Pregnancy
Medically Reviewed by Kendra Segura, MD
gynecologist checking pregnant woman's cervix in exam room
Is a Cervix Check Always Necessary in Late Pregnancy?
Medically Reviewed by Kendra Segura, MD
pregnant woman at prenatal doctor appointment
Your Complete Guide to Prenatal Testing
Medically Reviewed by Kendra Segura, MD
overhead view of woman getting first trimester ultrasound
Everything You Need to Know About the First Trimester Screening
By Dani Wolfe
Understanding the Glucose Screening and Glucose Tolerance Test
Understanding the Glucose Screening and Glucose Tolerance Test
Medically Reviewed by Kendra Segura, MD
fetal doppler heart rate of in utero baby
Are At-Home Fetal Dopplers Safe?
Medically Reviewed by Kendra Segura, MD
black and white image of a family ancestry tree
Your Guide to Genetic Testing During Pregnancy
By Ashley Zielger
lab technician holding vial of blood for blood testing
FDA Report Warns Against False Positives in Some Prenatal Genetic Tests
By Nehal Aggarwal
Same sex pregnant couple at home with their daughter on the couch.
What Is Amniocentesis?
By Rachel Morris
Pregnant woman and her partner happily looking at their sonogram.
Sonogram vs. Ultrasound: What’s the Difference?
By Christin Perry
medical doctor speaking with patient
3D Ultrasound: Why It’s Used and What You Can Expect to See
By Korin Miller
Q&A: Why CVS/amnio?
Q&A: Why CVS/amnio?
By Paula Kashtan
pregnant woman in kitchen by window looking at her phone
Rh Incompatibility: What to Know if You’re Rh Negative and Pregnant
By Lexi Dwyer
happy couple looking at positive pregnancy test
11 Moms-to-Be Share What They Did With Their Positive Pregnancy Tests
By Ashlee Neuman
crate full of fresh veggies and fruits
Here’s How to Tell if Baby Is at Risk for Childhood Obesity During Pregnancy, Study Says
By Stephanie Grassullo
Article removed.