Special issue explores advances in noninvasive prenatal screening, molecular diagnostics, and care disparities affecting perinatal outcomes.
The Association for Diagnostics & Laboratory Medicine (ADLM) has published a special January issue of Clinical Chemistry focusing on maternal-fetal and neonatal diagnostics, highlighting advances in screening technologies and risk prediction methods.
The issue examines perinatal diagnostics from multiple perspectives, including noninvasive prenatal screening improvements, care disparities, and emerging molecular diagnostic applications. According to the issue’s editors, the field faces unique challenges requiring simultaneous care for two patients.
“Perinatal medicine presents unique challenges, as it requires caring for two patients simultaneously,” say the issue’s editors Drs Robert D Nerenz, AJ Agopian, Philip J Lupo, Khushbu Patel, and Nandani Raghuraman in the issue’s preamble. “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 write, “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 note.
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. Â
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 gene-editing technique, was used to treat an infant with urea cycle disorder, an inherited metabolic disease. Â
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 write.
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,” write 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.Â
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