Jean W Keeling

Khong, T. Yee; Malcomson, Rdg

doi:10.1177/1093526619892715

Cited by 2 publications

(2 citation statements)

References 8 publications

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“…The phenotyping of fetuses was executed by perinatal autopsy (Nayak et al, 2015). First, anthropometric measurements (fetal weight, total length, foot length, head circumference, chest circumference, and other measurements) were compared with available standard growth charts (Khong and Malcomson, 2020). A detailed external examination from head to toe was performed to document the dysmorphism or anomalies.…”

Section: Methodsmentioning

confidence: 99%

“…A detailed external examination from head to toe was performed to document the dysmorphism or anomalies. Whole-body dissection with careful examination of internal organs or structures were performed using standard perinatal autopsy procedures (Khong and Malcomson, 2020). Fetal radiographs (anteroposterior and lateral views) were obtained to rule out skeletal abnormalities.…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

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

Shravya,

Girisha,

Nayak

2023

Clinical Dysmorphology

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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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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%