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.
Original language | English |
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Pages (from-to) | 16-26 |
Number of pages | 11 |
Journal | Clinical Dysmorphology |
Volume | 33 |
Issue number | 1 |
DOIs | |
Publication status | Published - Nov 29 2023 |
Externally published | Yes |
Keywords
- Pregnancy
- Female
- Infant, Newborn
- Humans
- Trisomy 18 Syndrome/diagnosis
- Ultrasonography, Prenatal
- Down Syndrome
- Aneuploidy
- Fetus/abnormalities
- Trisomy/diagnosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Anatomy
- Pathology and Forensic Medicine
- Genetics(clinical)