Advances in maternal-fetal and neonatal diagnostics highlighted in special January issue of ADLM's Clinical Chemistry journal

WASHINGTON, Jan. 6, 2026 /PRNewswire/ -- Clinical laboratory professionals are transforming healthcare for expectant mothers and their babies, according to the special January issue of Clinical Chemistry published by the Association for Diagnostics & Laboratory Medicine (ADLM). From advancing noninvasive prenatal screening to zeroing in on care disparities, this special issue explores perinatal diagnostics and risk prediction from every angle, with a focus on driving much-needed improvements in maternal, fetal, and neonatal outcomes.

View the full issue here: https://academic.oup.com/clinchem/issue/72/1

"Perinatal medicine presents unique challenges, as it requires caring for two patients simultaneously," stated the issue's editors Drs. Robert D. Nerenz, A.J. Agopian, Philip J. Lupo, Khushbu Patel, and Nandani Raghuraman in a preamble to the issue. "Yet there is reason for optimism, with the rapid advancement of molecular diagnostics and other novel tools that have moved the field forward."

Establishing benchmarks, improving tests
Because pregnancy and childhood are characterized by rapid physiological changes, establishing "normal" ranges for test results can be difficult in pregnant and pediatric populations. Adding to the challenge, these patients are often excluded from studies to define these ranges, called reference intervals.

"Both of these topics are explored in depth," the editors wrote, "with a new research article and review article discussing trimester-specific reference intervals, and a perspective article drawing attention to the underrepresentation of pregnant individuals in therapeutic and interventional trials."

In one article, researchers call for improved testing for five conditions that can cause maternal illness or death: preterm delivery, preeclampsia, ectopic pregnancy, gestational diabetes, and fetal anomalies. While many available tests can rule out these conditions in healthy expectant mothers, more assays are needed to identify people with high-risk pregnancies so those patients can receive prompt treatment, the authors noted.

Advancing screening and molecular diagnostics
Noninvasive screening for birth defects and genetic abnormalities is a staple of perinatal care. Four articles in the issue explore such testing, including a study assessing a cost-effective method for detecting cytomegalovirus, a leading cause of congenital hearing loss.  

In the realm of molecular diagnostics, new research highlights developments made by sequencing the DNA of pediatric cancer patients and links specific sequences to tumor risk. A perspective article describes how CRISPR, a groundbreaking gene-editing technique, was used to treat an infant with urea cycle disorder, an inherited metabolic disease.  

Adopting informatics
Now that labs have access to massive health datasets, they are harnessing the power of information science to drive care improvements. "One [review article] explores the integration of laboratory screening databases with birth defect registries to improve our understanding of metabolic disorders, while another promotes the use of clinical laboratory data to close care gaps and eliminate disparities," the editors wrote.

Assessing environmental risks
Another review article analyzes evidence linking common pollutants — including PFAS (per- and polyfluoroalkyl substances, the so-called "forever" chemicals) — to defects in fetal heart development, emphasizing the need for integrated approaches to reducing environmental risks.

Enabling uterine transplantation
Uterus transplantation offers hope for women with infertility due to nonfunctioning or absent uteruses. Although the procedure is still extremely rare, clinical lab professionals play a role in widening adoption.

"This rapidly evolving field is covered in detail in a new special report," wrote the editors. A review article spotlights the need to standardize protocols and diagnostics, and explores novel approaches like studying gene readouts in blood and urine.  

About the Association for Diagnostics & Laboratory Medicine (ADLM)
Dedicated to achieving better health for all through laboratory medicine, ADLM unites more than 70,000 clinical laboratory professionals, physicians, research scientists, and business leaders from 110 countries around the world. Our community is at the forefront of laboratory medicine's diverse subdisciplines, including clinical chemistry, molecular diagnostics, mass spectrometry, clinical microbiology, and data science, and is comprised of individuals holding the spectrum of lab-related professional degrees, certifications, and credentials. Since 1948, ADLM has championed the advancement of laboratory medicine by fostering scientific collaboration, knowledge sharing, and the development of innovative solutions that enhance health outcomes. For more information, visit www.myadlm.org.

About Clinical Chemistry
Clinical Chemistry (clinchem.org) is the leading international journal of laboratory medicine, featuring nearly 400 peer-reviewed studies every year that help patients get accurate diagnoses and essential care. This vital research is advancing areas of healthcare ranging from genetic testing and drug monitoring to pediatrics and appropriate test utilization.

Christine DeLong
ADLM
Director, Editorial and Media Relations
(p) 202.835.8722
[email protected] 

Bill Malone
ADLM
Senior Director, Strategic Communications
(p) 202.835.8756
[email protected]

SOURCE Association for Diagnostics & Laboratory Medicine (ADLM)