Trisomy 18 score

A rapid, reliable diagnostic test for trisomy 18

Robert W. Marion, David Chitayat, R. Gordon Hutcheon, Julie A. Neidich, Elaine H. Zackal, Lewis P. Singer, Matthew Warman

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to occur in trisomy 18: five points for the presence of features previously reported in 50% or more of affected infants; three points for features reported to occur in between 10% and 50% of affected individuals; and one point for features known to occur in less than 10% of infants with the disorder. Using the scoring system, we evaluated two cohorts of patients: those in whom a diagnosis of trisomy 18 was previously established (retrospective group) and those in whom the diagnosis was suspected but not yet proved (prospective group). The average score in the retrospective series (n=25) was 96.7, and no patient scored less than 70. Twenty-two patients were evaluated prospectively; in all cases the presence or absence of trisomy 18 was correctly predicted. The average score in the 11 patients without trisomy 18 was 41.4, and all patients scored 60 or less. In the 11 patients confirmed to have trisomy 18, the average score was 94.3, with a range of 70 to 113. This scoring system is an accurate, reproducible method for predicting trisomy 18 in neonates with multiple congenital malformations.

Original languageEnglish (US)
Pages (from-to)45-48
Number of pages4
JournalThe Journal of Pediatrics
Volume113
Issue number1 PART 1
DOIs
StatePublished - 1988

Fingerprint

Routine Diagnostic Tests
Trisomy 18
Newborn Infant

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Marion, R. W., Chitayat, D., Hutcheon, R. G., Neidich, J. A., Zackal, E. H., Singer, L. P., & Warman, M. (1988). Trisomy 18 score: A rapid, reliable diagnostic test for trisomy 18. The Journal of Pediatrics, 113(1 PART 1), 45-48. https://doi.org/10.1016/S0022-3476(88)80526-2

Trisomy 18 score : A rapid, reliable diagnostic test for trisomy 18. / Marion, Robert W.; Chitayat, David; Hutcheon, R. Gordon; Neidich, Julie A.; Zackal, Elaine H.; Singer, Lewis P.; Warman, Matthew.

In: The Journal of Pediatrics, Vol. 113, No. 1 PART 1, 1988, p. 45-48.

Research output: Contribution to journalArticle

Marion, RW, Chitayat, D, Hutcheon, RG, Neidich, JA, Zackal, EH, Singer, LP & Warman, M 1988, 'Trisomy 18 score: A rapid, reliable diagnostic test for trisomy 18', The Journal of Pediatrics, vol. 113, no. 1 PART 1, pp. 45-48. https://doi.org/10.1016/S0022-3476(88)80526-2
Marion RW, Chitayat D, Hutcheon RG, Neidich JA, Zackal EH, Singer LP et al. Trisomy 18 score: A rapid, reliable diagnostic test for trisomy 18. The Journal of Pediatrics. 1988;113(1 PART 1):45-48. https://doi.org/10.1016/S0022-3476(88)80526-2
Marion, Robert W. ; Chitayat, David ; Hutcheon, R. Gordon ; Neidich, Julie A. ; Zackal, Elaine H. ; Singer, Lewis P. ; Warman, Matthew. / Trisomy 18 score : A rapid, reliable diagnostic test for trisomy 18. In: The Journal of Pediatrics. 1988 ; Vol. 113, No. 1 PART 1. pp. 45-48.
@article{f5f70839f383469483a06dc25da58313,
title = "Trisomy 18 score: A rapid, reliable diagnostic test for trisomy 18",
abstract = "We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to occur in trisomy 18: five points for the presence of features previously reported in 50{\%} or more of affected infants; three points for features reported to occur in between 10{\%} and 50{\%} of affected individuals; and one point for features known to occur in less than 10{\%} of infants with the disorder. Using the scoring system, we evaluated two cohorts of patients: those in whom a diagnosis of trisomy 18 was previously established (retrospective group) and those in whom the diagnosis was suspected but not yet proved (prospective group). The average score in the retrospective series (n=25) was 96.7, and no patient scored less than 70. Twenty-two patients were evaluated prospectively; in all cases the presence or absence of trisomy 18 was correctly predicted. The average score in the 11 patients without trisomy 18 was 41.4, and all patients scored 60 or less. In the 11 patients confirmed to have trisomy 18, the average score was 94.3, with a range of 70 to 113. This scoring system is an accurate, reproducible method for predicting trisomy 18 in neonates with multiple congenital malformations.",
author = "Marion, {Robert W.} and David Chitayat and Hutcheon, {R. Gordon} and Neidich, {Julie A.} and Zackal, {Elaine H.} and Singer, {Lewis P.} and Matthew Warman",
year = "1988",
doi = "10.1016/S0022-3476(88)80526-2",
language = "English (US)",
volume = "113",
pages = "45--48",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "1 PART 1",

}

TY - JOUR

T1 - Trisomy 18 score

T2 - A rapid, reliable diagnostic test for trisomy 18

AU - Marion, Robert W.

AU - Chitayat, David

AU - Hutcheon, R. Gordon

AU - Neidich, Julie A.

AU - Zackal, Elaine H.

AU - Singer, Lewis P.

AU - Warman, Matthew

PY - 1988

Y1 - 1988

N2 - We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to occur in trisomy 18: five points for the presence of features previously reported in 50% or more of affected infants; three points for features reported to occur in between 10% and 50% of affected individuals; and one point for features known to occur in less than 10% of infants with the disorder. Using the scoring system, we evaluated two cohorts of patients: those in whom a diagnosis of trisomy 18 was previously established (retrospective group) and those in whom the diagnosis was suspected but not yet proved (prospective group). The average score in the retrospective series (n=25) was 96.7, and no patient scored less than 70. Twenty-two patients were evaluated prospectively; in all cases the presence or absence of trisomy 18 was correctly predicted. The average score in the 11 patients without trisomy 18 was 41.4, and all patients scored 60 or less. In the 11 patients confirmed to have trisomy 18, the average score was 94.3, with a range of 70 to 113. This scoring system is an accurate, reproducible method for predicting trisomy 18 in neonates with multiple congenital malformations.

AB - We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to occur in trisomy 18: five points for the presence of features previously reported in 50% or more of affected infants; three points for features reported to occur in between 10% and 50% of affected individuals; and one point for features known to occur in less than 10% of infants with the disorder. Using the scoring system, we evaluated two cohorts of patients: those in whom a diagnosis of trisomy 18 was previously established (retrospective group) and those in whom the diagnosis was suspected but not yet proved (prospective group). The average score in the retrospective series (n=25) was 96.7, and no patient scored less than 70. Twenty-two patients were evaluated prospectively; in all cases the presence or absence of trisomy 18 was correctly predicted. The average score in the 11 patients without trisomy 18 was 41.4, and all patients scored 60 or less. In the 11 patients confirmed to have trisomy 18, the average score was 94.3, with a range of 70 to 113. This scoring system is an accurate, reproducible method for predicting trisomy 18 in neonates with multiple congenital malformations.

UR - http://www.scopus.com/inward/record.url?scp=0023885430&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023885430&partnerID=8YFLogxK

U2 - 10.1016/S0022-3476(88)80526-2

DO - 10.1016/S0022-3476(88)80526-2

M3 - Article

VL - 113

SP - 45

EP - 48

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 1 PART 1

ER -