Prenatal diagnosis is the set of medical methods used to detect structural, chromosomal, genetic, and functional abnormalities in a fetus before birth, enabling assessment of fetal health and informed management of pregnancy. It encompasses non-invasive techniques such as detailed ultrasonography and Doppler imaging…
Prenatal diagnosis is the set of medical methods used to detect structural, chromosomal, genetic, and functional abnormalities in a fetus before birth, enabling assessment of fetal health and informed management of pregnancy. It encompasses non-invasive techniques such as detailed ultrasonography and Doppler imaging, which can reveal anatomical anomalies, situs and laterality disorders, and organ malformations, alongside biochemical screening and invasive procedures that sample fetal or placental material for genetic analysis. A central aim is the early identification of congenital conditions, including cardiac and diaphragmatic anomalies, gastrointestinal malformations such as tracheoesophageal fistula, abdominal cystic lesions, and single-gene and chromosomal disorders, where advances in molecular characterisation increasingly permit precise diagnosis and, in some cases, prognostic and therapeutic insight. Prenatal diagnosis informs counselling, allows families and clinicians to anticipate complications, and supports planning for delivery and neonatal care, including the timing and setting of intervention. The information it provides may also guide decisions about in-utero management, postnatal surgery, and nutritional and supportive care for affected infants. Accurate interpretation requires integration of imaging, biochemical, and genetic findings within a multidisciplinary framework. By identifying fetal conditions before birth, prenatal diagnosis enhances the safety of pregnancy, supports informed reproductive choice, and improves preparedness for the care of newborns with congenital and genetic disorders.
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