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Review
. 2024 Jan 1;33(1):16-26.
doi: 10.1097/MCD.0000000000000481. Epub 2023 Nov 29.

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

Mangalore S Shravya  1 , Katta M Girisha  1   2 , Shalini S Nayak  1
Affiliations
Review

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

Mangalore S Shravya et al. Clin Dysmorphol. .

Abstract

Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals for perinatal autopsy over the period of 15 years. A detailed phenotyping of the fetuses with trisomy 18 was executed by perinatal autopsy. Appropriate fetal tissues were obtained to perform genomic testing. We observed trisomy 18 in 16 fetuses (2%) in our cohort of 784 fetal/neonatal losses and a perinatal autopsy was performed on all of them. Abnormal facial profile was the most frequent anomaly (10/16, 62%) followed by anomalies of the extremities (9/16, 56%), and cardiac defects (6/16, 37%). We also observed esophageal atresia, diaphragmatic hernia, and neural tube defect. The study represents one of the largest cohorts of trisomy 18 from a perinatal center from a developing country and highlights the clinical heterogeneity attributed to trisomy 18. We also report a recurrence of trisomy 18 in a family.

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