Validation of radiographic criteria for the diagnosis of down syndrome in stillborn infants

Noel Dasgupta, Richard M. Pauli, V. Kim Horton, Catherine A. Reiser

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We assessed the utility of radiographic findings as aids to the diagnosis of Down syndrome (DS) in stillborn infants. The lilac index may help to confirm the diagnosis of DS in stillborn infants in whom it is suspected clinically, but in whom it cannot be confirmed cytogenetically. It also can serve as a screening procedure to select stillborns in whom fluorescent in situ hybridization of fixed tissues should be completed. An lilac index of 59°differentiates between control and affected stillborns with the highest accuracy, but false positives persist above 55°, and false negatives are common below 64°. We recommend that a conservative cutoff value of 55°be used if the radiographic data serve as the principal means of diagnosing DS in stillborn infants. A cutoff value of 64°may be appropriate if the radiographic data are used to screen stillborn infants for fluorescent in situ hybridization studies.

Original languageEnglish (US)
Pages (from-to)347-350
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume72
Issue number3
DOIs
StatePublished - Oct 31 1997
Externally publishedYes

Fingerprint

Down Syndrome
Fluorescence In Situ Hybridization

Keywords

  • Acetabular angle
  • Down syndrome
  • Iliac angle
  • Intrauterine death
  • Lilac index
  • Pelvic measurements
  • Radiographic diagnosis
  • Stillbirth

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Validation of radiographic criteria for the diagnosis of down syndrome in stillborn infants. / Dasgupta, Noel; Pauli, Richard M.; Horton, V. Kim; Reiser, Catherine A.

In: American Journal of Medical Genetics, Vol. 72, No. 3, 31.10.1997, p. 347-350.

Research output: Contribution to journalArticle

Dasgupta, Noel ; Pauli, Richard M. ; Horton, V. Kim ; Reiser, Catherine A. / Validation of radiographic criteria for the diagnosis of down syndrome in stillborn infants. In: American Journal of Medical Genetics. 1997 ; Vol. 72, No. 3. pp. 347-350.
@article{097892e478644400a2c9c516e262d811,
title = "Validation of radiographic criteria for the diagnosis of down syndrome in stillborn infants",
abstract = "We assessed the utility of radiographic findings as aids to the diagnosis of Down syndrome (DS) in stillborn infants. The lilac index may help to confirm the diagnosis of DS in stillborn infants in whom it is suspected clinically, but in whom it cannot be confirmed cytogenetically. It also can serve as a screening procedure to select stillborns in whom fluorescent in situ hybridization of fixed tissues should be completed. An lilac index of 59°differentiates between control and affected stillborns with the highest accuracy, but false positives persist above 55°, and false negatives are common below 64°. We recommend that a conservative cutoff value of 55°be used if the radiographic data serve as the principal means of diagnosing DS in stillborn infants. A cutoff value of 64°may be appropriate if the radiographic data are used to screen stillborn infants for fluorescent in situ hybridization studies.",
keywords = "Acetabular angle, Down syndrome, Iliac angle, Intrauterine death, Lilac index, Pelvic measurements, Radiographic diagnosis, Stillbirth",
author = "Noel Dasgupta and Pauli, {Richard M.} and Horton, {V. Kim} and Reiser, {Catherine A.}",
year = "1997",
month = "10",
day = "31",
doi = "10.1002/(SICI)1096-8628(19971031)72:3<347::AID-AJMG19>3.0.CO;2-T",
language = "English (US)",
volume = "72",
pages = "347--350",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Validation of radiographic criteria for the diagnosis of down syndrome in stillborn infants

AU - Dasgupta, Noel

AU - Pauli, Richard M.

AU - Horton, V. Kim

AU - Reiser, Catherine A.

PY - 1997/10/31

Y1 - 1997/10/31

N2 - We assessed the utility of radiographic findings as aids to the diagnosis of Down syndrome (DS) in stillborn infants. The lilac index may help to confirm the diagnosis of DS in stillborn infants in whom it is suspected clinically, but in whom it cannot be confirmed cytogenetically. It also can serve as a screening procedure to select stillborns in whom fluorescent in situ hybridization of fixed tissues should be completed. An lilac index of 59°differentiates between control and affected stillborns with the highest accuracy, but false positives persist above 55°, and false negatives are common below 64°. We recommend that a conservative cutoff value of 55°be used if the radiographic data serve as the principal means of diagnosing DS in stillborn infants. A cutoff value of 64°may be appropriate if the radiographic data are used to screen stillborn infants for fluorescent in situ hybridization studies.

AB - We assessed the utility of radiographic findings as aids to the diagnosis of Down syndrome (DS) in stillborn infants. The lilac index may help to confirm the diagnosis of DS in stillborn infants in whom it is suspected clinically, but in whom it cannot be confirmed cytogenetically. It also can serve as a screening procedure to select stillborns in whom fluorescent in situ hybridization of fixed tissues should be completed. An lilac index of 59°differentiates between control and affected stillborns with the highest accuracy, but false positives persist above 55°, and false negatives are common below 64°. We recommend that a conservative cutoff value of 55°be used if the radiographic data serve as the principal means of diagnosing DS in stillborn infants. A cutoff value of 64°may be appropriate if the radiographic data are used to screen stillborn infants for fluorescent in situ hybridization studies.

KW - Acetabular angle

KW - Down syndrome

KW - Iliac angle

KW - Intrauterine death

KW - Lilac index

KW - Pelvic measurements

KW - Radiographic diagnosis

KW - Stillbirth

UR - http://www.scopus.com/inward/record.url?scp=0030874838&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030874838&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19971031)72:3<347::AID-AJMG19>3.0.CO;2-T

DO - 10.1002/(SICI)1096-8628(19971031)72:3<347::AID-AJMG19>3.0.CO;2-T

M3 - Article

C2 - 9332668

AN - SCOPUS:0030874838

VL - 72

SP - 347

EP - 350

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 3

ER -