[Diagnosis of Edwards syndrome in newborns]

Area of Science:

• Medical Genetics
• Neonatology
• Pediatric Cardiology

Context:

• Focuses on congenital malformations in newborns diagnosed with Edwards syndrome (trisomy 18).
• Utilizes observational data from a pediatric health center between 1992 and 1994.
• Highlights the critical early postnatal period for diagnosis.

Purpose:

• To define congenital malformations most indicative of trisomy 18 in newborns.
• To aid clinicians in the early diagnosis of Edwards syndrome.
• To emphasize the importance of differential diagnosis with other genetic syndromes.

Summary:

• Intrauterine growth retardation, facial skeleton dysmorphy, congenital heart defects (primarily Ventricular Septal Defect - VSD), and extremity malformations (especially palmar and pedal) are key indicators.
• These findings in newborns strongly suggest a diagnosis of Edwards syndrome.
• The study underscores the necessity of distinguishing trisomy 18 from autosomal recessive conditions like TAR syndrome, Roberts syndrome, and Smith-Lemli-Opitz syndrome.

Impact:

• Facilitates earlier and more accurate diagnosis of trisomy 18 in neonates.
• Improves clinical recognition of Edwards syndrome, enabling timely management and genetic counseling.
• Aids in differentiating trisomy 18 from other genetic disorders with overlapping phenotypes, optimizing patient care pathways.