A physician survey regarding diagnostic variability among birth defects

Langlois, Peter H.; Sheu, Shane; Scheuerle, Angela E.

doi:10.1002/ajmg.a.33413

Cited by 13 publications

(13 citation statements)

References 13 publications

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“…By grouping defects according to rated susceptibility to diagnostic variation (Langlois et al, 2010), and averaging their time trends, we found that the largest upward trends were in defect quintiles most susceptible to diagnostic variation. The two most susceptible quintiles also contained defects which were highly prevalent and which showed the largest increases (e.g., atrial septal defect).…”

Section: Discussionmentioning

confidence: 94%

“…Cases were assigned to the birth defect categories used in the survey of clinical geneticists (Langlois et al, 2010). We used Poisson regression to fit a trend line for each defect.…”

Section: Discussionmentioning

confidence: 99%

“…A second approach to distinguish true trends from artifactual was to eliminate from the total birth defects cases the large number with atrial septal defect, ventricular septal defect, patent ductus arteriosus, or plagiocephaly: all reported to be highly susceptible to diagnostic variation Langlois et al, 2010;Sheu et al, 2011), and thus likely to exhibit artifactual time trends as more sensitive diagnostic tests or equipment are routinely used or more referral to specialists occurs. The increasing trend in total defects went from 3.6% to 2.8% per year.…”

Section: Discussionmentioning

confidence: 99%

“…For this study, we chose to limit those to the 151 groups that had at least 50 definite cases over the total 9-year time period. (C) Forty-eight birth defects had been rated on a 5-point scale for susceptibility to diagnostic variation in a survey of clinical geneticists (Langlois et al, 2010). For the current study, 6-digit BPA codes were also grouped to match 46 of those defect categorizations.…”

Section: Study Populationmentioning

confidence: 99%

“…That was largely corroborated by a national survey of clinical geneticists who were asked to rate each of 48 common birth defects on a 5-point scale in answer to the question, ''For any 100 patients with this birth defect, is the defect diagnosed consistently, variably, or somewhere in between?'' (Langlois et al, 2010). Both articles suggested examining severe cases as one way to lessen the impact of diagnostic variation.…”

Section: Introductionmentioning

confidence: 99%

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Time trends in the prevalence of birth defects in Texas 1999-2007: Real or artifactual?

Langlois

Marengo

Canfield

2011

Birth Defects Research Part A: Clinical and Molecular Teratolog

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In our opinion, the weight of evidence in our study suggests that the observed increase over time in total birth defects and in many specific birth defects is artifactual. This likely reflects increased awareness, referral, detection, or documentation in health care facilities visited by TBDR staff, resulting in more complete ascertainment by the registry, rather than a true change over time in the occurrence of most birth defects.

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Section: Discussionmentioning

confidence: 94%

“…Cases were assigned to the birth defect categories used in the survey of clinical geneticists (Langlois et al, 2010). We used Poisson regression to fit a trend line for each defect.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Study Populationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Time trends in the prevalence of birth defects in Texas 1999-2007: Real or artifactual?

Langlois

Marengo

Canfield

2011

Birth Defects Research Part A: Clinical and Molecular Teratolog

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A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data

Langlois

Moffitt

Scheuerle

2014

American J of Med Genetics Pt A

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Since 1983, several authors have used panels of "sentinel" congenital anomalies that might serve as indicators of the human genome mutation rate. The current study suggests a considerably updated panel, and applies it to public health birth defects registry data to determine the potential number of de novo cases. Data were taken from deliveries in 1999-2009 from the Texas Birth Defects Registry, an active surveillance program. Cases with one of the conditions or syndromes in the panel were identified using codes and text searches. Frequencies and birth prevalence were calculated for the overall panel and subcategories within it. Of the 60 conditions appearing in previous papers on sentinel phenotypes, 21 (35%) were used in the current study along with 27 new phenotypes. We found 1,694 cases. Of those, 1,100 exhibited phenotypes thought to arise de novo in at least 90% of the cases ("all/almost all" subpanel), and 594 considered de novo in roughly 50-90% of cases ("most" subpanel). Chromosomal deletion disorders were present in 523 cases and imprinting disorders in 243. After adjusting for maternal age, occurrence of cases in the total panel, "most" subpanel, and imprinting disorders subpanel were significantly associated with paternal age. Our panel of sentinel phenotypes differs from previous panels due to evolved knowledge of genetic disorders, different approaches with respect to interviewing, and different operational definitions. It is hoped that using an overall panel as well as subpanels may maximize statistical power as well as suggest potential mechanisms.

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Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula

Guptha

Shumate²,

Scheuerle

2019

American J of Med Genetics Pt A

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Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a foregut defect that is a major component of the VATER/VACTERL association. The specific diagnostic criteria for the VATER/VACTERL association phenotype have changed over time. The current definition is presence of at least three of the following: Vertebral defects, Anal atresia, Cardiac defects, TE fistula, or Renal and Limb anomalies in the absence of a specific genetic diagnosis. Using the Texas Birth Defect Registry, 1,175 cases of EA+/−TEF (174 EA; 1,001 EA + TEF) were evaluated against strict definitions of VATER/VACTERL. Nine (5.2%) cases of EA alone and 164 (16.3%) cases of EA + TEF met criteria for a diagnosis of VATER;and 20 (11.5%) and 223 (22.2%), respectively, met criteria for VACTERL. Trisomy 21, Trisomy 18, 22q11 deletion, and CHARGE were the most common syndromic diagnoses. About 88.5% (154) cases of EA and 77.8% (778) cases of EA + TEF were likely not to meet the criteria for VACTERL. EA+/−TEF is more likely to be an isolated defect or part of a multiple malformation syndrome in a pattern other than VACTERL, than be part of the defined association. This study reinforces the need to consider broader evaluation for alternate diagnoses in the presence of these defects.

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A physician survey regarding diagnostic variability among birth defects

Cited by 13 publications

References 13 publications

Time trends in the prevalence of birth defects in Texas 1999-2007: Real or artifactual?

Time trends in the prevalence of birth defects in Texas 1999-2007: Real or artifactual?

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data

Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula

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