Prenatal diagnosis comprises the procedures and investigations used to detect structural anomalies, chromosomal abnormalities, and genetic disorders in the fetus before birth. It combines noninvasive imaging, principally obstetric ultrasonography augmented by techniques such as three-dimensional ultrasound and Doppl…
Prenatal diagnosis comprises the procedures and investigations used to detect structural anomalies, chromosomal abnormalities, and genetic disorders in the fetus before birth. It combines noninvasive imaging, principally obstetric ultrasonography augmented by techniques such as three-dimensional ultrasound and Doppler angiography, with invasive sampling methods including amniocentesis and chorionic villus sampling that provide fetal cells for cytogenetic and molecular testing. Increasingly, molecular and genomic approaches identify specific gene mutations, enabling diagnosis of inherited conditions ranging from junctional epidermolysis bullosa and Tay-Sachs disease to inherited bleeding disorders and other single-gene and multisystem syndromes. Prenatal evaluation also serves prognostication, characterizing conditions such as congenital diaphragmatic hernia, tracheoesophageal anomalies, fetal cystic lesions, and structural cardiac defects to anticipate neonatal course and guide delivery planning. The information obtained supports counseling, allows families to make informed decisions, and facilitates preparation for specialized perinatal and surgical care. Because findings carry medical, ethical, and psychological implications, accurate interpretation and clear communication are essential. Research in this field advances imaging accuracy, expands the catalogue of detectable genetic conditions, and refines the integration of diagnostic findings with management, with the goal of improving outcomes for affected neonates and supporting comprehensive, family-centered prenatal care.
11 peer-reviewed articles, ranked by relevance. Each links to its DOI.
The 11 articles above have been cited 6 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
A sample of recent works citing this journal's research on Prenatal Diagnosis, linking to each citing work.