TY - JOUR
T1 - Comprehensive phenotyping of fetuses with trisomy 18
T2 - a perinatal center experience
AU - Shravya, Mangalore S.
AU - Girisha, Katta M.
AU - Nayak, Shalini S.
N1 - Publisher Copyright:
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2023/11/29
Y1 - 2023/11/29
N2 - 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.
AB - 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.
KW - Pregnancy
KW - Female
KW - Infant, Newborn
KW - Humans
KW - Trisomy 18 Syndrome/diagnosis
KW - Ultrasonography, Prenatal
KW - Down Syndrome
KW - Aneuploidy
KW - Fetus/abnormalities
KW - Trisomy/diagnosis
UR - http://www.scopus.com/inward/record.url?scp=85180008986&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85180008986&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/06cee820-7d95-3f11-8f45-17c9bf5c638f/
U2 - 10.1097/mcd.0000000000000481
DO - 10.1097/mcd.0000000000000481
M3 - Article
C2 - 38038141
AN - SCOPUS:85180008986
SN - 0962-8827
VL - 33
SP - 16
EP - 26
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 1
ER -