Annals of Case Reports and Clinical Studies (ISSN: 2834-5673) | Volume 5, Issue 5 | Case Report | Open Access
Nicolas Anastasiadis*
Carl Anastasiadis¹, Assaad Kesrouani², Nicolas Anastasiadis²*
1Saint George University of Beirut, Faculty of Medicine, Beirut, Lebanon
2Saint Joseph University of Beirut, Department of Obstetrics and Gynecology, Faculty of Medicine, Beirut, Lebanon
*Correspondence to: Nicolas Anastasiadis
Fulltext PDFIntroduction: Trisomy 18 is a severe chromosomal disorder associated with multiple congenital anomalies and high mortality. Prenatal detection relies on maternal risk assessment, biochemical screening, and fetal ultrasonography, while definitive diagnosis requires cytogenetic confirmation. Early diagnosis is essential for prognosis assessment, pregnancy management, and parental counseling.
Objectives: To analyze prenatal screening and diagnostic modalities for trisomy 18, identify the most frequent morphological abnormalities and assess the relationship between timing of diagnosis and severity of malformations and finally, to explore the implications for obstetric and neonatal management and parental counseling.
Methods: A retrospective descriptive study was conducted on five pregnancies affected by trisomy 18 taken from January 2015 to December 2025. Data collected included maternal and obstetric characteristics, prenatal screening and diagnostic methods, gestational age at diagnosis, identified fetal abnormalities, and management strategies. Obstetric and neonatal outcomes were analyzed descriptively without comparative statistical testing.
Results: Maternal age ranged from 31 to 37 years, with most patients 235 years. Prenatal screening using NIPT and ultrasonography identified recurrent abnormalities, including choroid plexus cysts, cardiac defects, single umbilical artery, limb anomalies, and growth restriction. Cytogenetic testing confirmed all cases. Early diagnosis allowed pregnancy termination, whereas later diagnosis resulted in continuation of pregnancy and poor neonatal outcomes.
Conclusion: Early prenatal diagnosis of trisomy 18 is crucial for assessing prognosis and optimizing pregnancy management. Delayed diagnosis is often associated with more severe fetal and neonatal outcomes. These findings emphasize the importance of prenatal screening and multidisciplinary care.
Trisomy 18, prenatal diagnosis, morphology ultrasound, neonatal prognosis
Carl Anastasiadis, Assaad Kesrouani, Nicolas Anastasiadis. Ultrasound Characteristics and Management of Fetal and Neonatal Trisomy 18. Ann Case Rep Clin Stud. 2026;5(5):1-9.