Prenatal Screening and Diagnostics

Prenatal screening and diagnostics encompasses the methods used to detect genetic and chromosomal abnormalities in a developing fetus, ranging from established techniques like amniocentesis to newer approaches that analyze fragments of fetal DNA circulating freely in a pregnant person's bloodstream. The shift toward cell-free DNA analysis and noninvasive prenatal testing has made it possible to screen for conditions such as trisomy 21 with high sensitivity and without the small but real procedural risks associated with invasive sampling. Researchers are now working to extend these methods beyond common aneuploidies to rarer chromosomal variants, single-gene disorders, and even genome-wide structural changes, while grappling with questions about the clinical interpretation of uncertain results and equitable access to testing. How best to integrate expanding genomic capabilities with genetic counseling, informed consent, and diverse patient values remains an active and unresolved challenge across both research and clinical practice.

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Keywords

Prenatal DiagnosisAneuploidy ScreeningMaternal Plasma DNA SequencingNoninvasive Prenatal TestingChromosomal AbnormalitiesPreimplantation Genetic Diagnosis