Updates in Trisomy 18

Aneuploidies represent some of the most common genetic abnormalities within the pediatric population. Among them, trisomies 13, 18, and 21 constitute the most prevalent syndromes. Unlike trisomy 21, trisomies 13 and 18 have historically been regarded as having significant morbidity and mortality leading to being labeled "lethal" conditions. However, within the last few decades there is a growing body of evidence that the long-term outcomes of newborns specifically affected by trisomy 18 are exceeding these preconceived, historical notions. This shift results from increased postnatal intervention due to shared decision-making with families and medical teams. This review summarizes the clinical manifestations of trisomy 18 syndrome but also explores the updated long-term outcomes and subsequent guidance for future medical surveillance in a population of newborns previously expected to die before their first birthday.

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Publication Details

Journal
NeoReviews
Published
2025-12-01
DOI
https://doi.org/10.1542/neo.26-12-082
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00
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article

Updates in Trisomy 18

Pedro A. Sanchez‐Lara, Keerthana Srinivasan, Seth Langston, Christian Canarte et al.
NeoReviews
Prenatal Screening and Diagnostics
article

Updates in Trisomy 18

Pedro A. Sanchez‐Lara, Keerthana Srinivasan, Seth Langston, Christian Canarte, Samuel David Amio Valientes
article en

Abstract

Aneuploidies represent some of the most common genetic abnormalities within the pediatric population. Among them, trisomies 13, 18, and 21 constitute the most prevalent syndromes. Unlike trisomy 21, trisomies 13 and 18 have historically been regarded as having significant morbidity and mortality leading to being labeled "lethal" conditions. However, within the last few decades there is a growing body of evidence that the long-term outcomes of newborns specifically affected by trisomy 18 are exceeding these preconceived, historical notions. This shift results from increased postnatal intervention due to shared decision-making with families and medical teams. This review summarizes the clinical manifestations of trisomy 18 syndrome but also explores the updated long-term outcomes and subsequent guidance for future medical surveillance in a population of newborns previously expected to die before their first birthday.

NeoReviewsVol. 26(12)
Cedars-Sinai Medical Center (US), Los Angeles Harbor College (US), Stanford Medicine (US)
Openalex Percentile: Top 52%
Prenatal Screening and Diagnostics
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