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American Academy of Pediatrics
Article

Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants

Michael D. Quartermain, Sara K. Pasquali, Kevin D. Hill, David J. Goldberg, James C. Huhta, Jeffrey P. Jacobs, Marshall L. Jacobs, Sunghee Kim and Ross M. Ungerleider
Pediatrics August 2015, 136 (2) e378-e385; DOI: https://doi.org/10.1542/peds.2014-3783
Michael D. Quartermain
Departments of aPediatrics, and
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Sara K. Pasquali
bDepartment of Pediatrics and Communicable Diseases, University of Michigan C.S. Mott Children’s Hospital, Ann Arbor, Michigan;
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Kevin D. Hill
cDepartment of Pediatrics, Duke University Medical Center, Durham, North Carolina;
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David J. Goldberg
dDepartment of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania;
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James C. Huhta
eDepartment of Perinatal Cardiology, Pediatrix Medical Group and
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Jeffrey P. Jacobs
fDepartment of Surgery, All Children’s Hospital and Johns Hopkins University, St Petersburg, Florida;
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Marshall L. Jacobs
gDivision of Cardiac Surgery, Department of Surgery, Johns Hopkins School of Medicine, Baltimore, Maryland; and
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Sunghee Kim
hDuke Clinical Research Institute, Durham, North Carolina
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Ross M. Ungerleider
iCardiovascular and Thoracic Surgery, Wake Forest University School of Medicine, Winston-Salem, North Carolina;
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  • Prenatal Diagnosis Data
    Michael D Quartermain
    Published on: 27 October 2015
  • Accuracy of Prenatal Diagnosis Data
    Scott B. Yeager
    Published on: 22 October 2015
  • Accuracy of Prenatal Diagnosis Data
    Scott B. Yeager
    Published on: 27 September 2015
  • Published on: (27 October 2015)
    Prenatal Diagnosis Data
    • Michael D Quartermain, Michael D. Quartermain, Wake Forest University School of Medicine
    • Other Contributors:

    We appreciate the comments from Dr. Yeager and Jones and thank them for sharing results from their internal data review. There are several potential explanations for the difference noted when comparing their data to the prenatal detection rates (PDRs) from the STS-CHS database (STS- CHSD). Vermont is a unique state in our report since it does not have a congenital surgical center. Our data reports PDRs for patients that...

    Show More

    We appreciate the comments from Dr. Yeager and Jones and thank them for sharing results from their internal data review. There are several potential explanations for the difference noted when comparing their data to the prenatal detection rates (PDRs) from the STS-CHS database (STS- CHSD). Vermont is a unique state in our report since it does not have a congenital surgical center. Our data reports PDRs for patients that underwent surgery at STS participating surgical institutions with information submitted to the database by the surgical center. It is possible some patients were not included in our analysis if the surgical institution did not enter data completely for these patients (i.e. cases meeting our exclusion criteria). Another possibility is that some patients in our study from Vermont who received surgery in the first 6 months of life were not evaluated by the University of Vermont program and included in their internal echocardiography database review. While we don't question the accuracy of the Vermont group's internal database, we utilized a database of patients that underwent surgery at STS centers, and this could lead to assessments of different study populations in the case of Vermont. Additionally, as stated in our study limitations our PDRs likely underestimate overall rates as we only included patients that received surgery. We were not able to include patients with fetal demise, terminations and those that underwent catheter based procedures. We do not know the clinical outcomes of all 115 patients in the Vermont review or whether they underwent surgery in the first 6 months of life and would be eligible for review in our analysis. When comparing relatively low numbers (115 patients over 6 years) this could also play an important role in the noted differences.

    One of the methods used to ensure data quality during our STS data review process was to compare our PDRs to a variety of individual states including CA, UT, OH, NV and GA that had recently published PDRs and our findings were very similar (1-6). Additionally, upon review of particularly lesion specific PDRs from different states we found good correlation with our STS data. Therefore, we do not believe any differences with the state of Vermont should be generalized to the rest of the data from the other 46 states included in our analysis.

    We thank the University of Vermont group for sharing their PDRs and highlighting impressive rates of diagnosis for lesion types such as HLHS (10 of 11). We acknowledge differences between our Vermont statewide data and the specific University of Vermont data likely related to their unique surgical referral system and our use of a surgical database. Our data was not intended to be center specific for reasons discussed above. We believe our overall conclusion in the manuscript stands in that the majority of patients with CHD that undergo surgery at STS centers in the first 6 months of life do not have a prenatal diagnosis and therefore opportunities exists to improve prenatal screening in the United States.

    Sincerely,

    Michael D. Quartermain, MD. Department of Pediatrics, Wake Forest University School of Medicine

    Kevin D. Hill, MD. Department of Pediatrics, Duke University School of Medicine

    Ross M. Ungerleider, MD. Department of Cardiovascular and Thoracic Surgery, Wake Forest University School of Medicine

    References: 1. Friedberg MK, Silverman NH, Moon-Grady AJ, et al. Prenatal detection of congenital heart disease. J Pediatr 2009; 155:26-31. 2. Sklansky MS, Berman DP, Pruetz JD, Chang RK. Prenatal screening for major congenital heart disease: superiority of outflow tracts over the 4- chamber view. J Ultrasound Med 2009; 28:889-899 3. Pinto NM, Keenan HT, Minich LL, Puchalski MD, Heywood M, Botto LD. Barriers to prenatal detection of congenital heart. Ultrasound Obstet Gynecol 2012; 40:418-425. 4. Sekar P, Heydarian HC, Cnota JF, Hornberger LK, Michelfelder EC. Diagnosis of congenital heart disease in an era of universal prenatal ultrasound screening in southwest Ohio.Cardiol Young 2013;10:1-7 5. Acherman RJ, Evans WN, Luna CF, et al. Prenatal detection of congenital heart disease in southern Nevada: the need for universal fetal cardiac evaluation. J Ultrasound Med 2007; 26: 1715-1719. 6. Oster ME, Kim C, Kusano AS, et al. A population-based study of the association of prenatal diagnosis with survival rate for infants with congenital heart defects. Am J Cardiol 2014; 113:1036-1040.

    Conflict of Interest:

    None declared

    Show Less
    Competing Interests: None declared.
  • Published on: (22 October 2015)
    Accuracy of Prenatal Diagnosis Data
    • Scott B. Yeager, Medical Director Pediatric Cardiology

    The recent article by Quartermain et al [1], analyzing the Society of Thoracic Surgeons (STS) database to provide insight into prenatal diagnosis of congenital heart disease, reinforced prior impressions regarding the types of heart disease routinely detected, and introduced new data regarding regional variation. We were surprised to discover that Vermont was ranked one of the two lowest among the 47 states listed, with a pren...

    Show More

    The recent article by Quartermain et al [1], analyzing the Society of Thoracic Surgeons (STS) database to provide insight into prenatal diagnosis of congenital heart disease, reinforced prior impressions regarding the types of heart disease routinely detected, and introduced new data regarding regional variation. We were surprised to discover that Vermont was ranked one of the two lowest among the 47 states listed, with a prenatal diagnosis rate below 20%, substantially less than the overall group rate of 34%. This finding was contrary to our clinical impression, leading us to perform a detailed search of our echocardiographic database for relevant diagnoses from January, 2006, through December, 2012. Our results are summarized in the Table, with diagnostic categories arranged to approximate the classification of the Quartermain study. The actual prenatal detection rate of patients in our clinical practice was 51% during the era in question, with variation by diagnosis similar to that observed in the STS report.

    While we cannot assure that all patients from Vermont are seen in our practice, we are the only tertiary care center and the only pediatric cardiology group in the state. In addition, the total number of major cardiac defects (115), is well within the range expected for births within our referral area (~6000/year), yielding a rate of 2.7/1000 births.

    It is self-evident that appropriate conclusions and interventions resulting from this type of analysis require accurate data entry. In the case of Vermont, virtually all of our neonatal and infant cardiac interventions are referred out of state to a single, large regional surgical center. The mechanism they used for identifying a prenatal diagnosis is unclear, but it did not include solicitation of information from us. While we cannot comment on how generalizable this observation may be, the magnitude of the discrepancy in data in our case is disturbing, particularly since it could lead to the misappropriation of scarce resources to address spurious deficiencies.

    Sincerely,
    Scott B. Yeager, M.D. Medical Director, Pediatric Cardiology
    David C. Jones, M.D. Medical Director, Fetal Diagnostic Center University of Vermont Medical Center, Burlington, Vermont

    REFERENCES
    1. Quartermain, M.D., et al., Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants. Pediatrics, 2015. 136(2): p. e378-85.

    Fundamental Diagnosis N Prenatal
    TAPVC 4 1
    Ventricular Septal Defect 7 4
    Coarctation 25 10
    Interrupted Aortic Arch 3 3
    Aortic Stenosis 3 0
    Tetralogy of Fallot 10 2
    d-Transposition 12 7
    Atrioventricular Septal Defect 4 2
    Pulmonary Stenosis 11 4
    Pulmonary Atresia/IVS 2 2
    Truncus Arteriosus 3 2
    TOF absent PV 2 2
    Double Outlet RV 5 2
    PA with VSD 4 2
    Tricuspid Valve Disease 5 3
    Single Ventricle, other 4 3
    Hypoplastic Left Heart Syndrome 11 10
    Total 115 59 (51%)

    Conflict of Interest:

    None declared

    Show Less
    Competing Interests: None declared.
  • Published on: (27 September 2015)
    Accuracy of Prenatal Diagnosis Data
    • Scott B. Yeager, Medical Director Pediatric Cardiology

    The recent article by Quartermain et al [1], analyzing the Society of Thoracic Surgeons (STS) database to provide insight into prenatal diagnosis of congenital heart disease, reinforced prior impressions regarding the types of heart disease routinely detected, and introduced new data regarding regional variation. We were surprised to discover that Vermont was ranked one of the two lowest among the 47 states listed, with a pren...

    Show More

    The recent article by Quartermain et al [1], analyzing the Society of Thoracic Surgeons (STS) database to provide insight into prenatal diagnosis of congenital heart disease, reinforced prior impressions regarding the types of heart disease routinely detected, and introduced new data regarding regional variation. We were surprised to discover that Vermont was ranked one of the two lowest among the 47 states listed, with a prenatal diagnosis rate below 20%, substantially less than the overall group rate of 34%. This finding was contrary to our clinical impression, leading us to perform a detailed search of our echocardiographic database for relevant diagnoses from January, 2006, through December, 2012. Our results are summarized in the Table, with diagnostic categories arranged to approximate the classification of the Quartermain study. The actual prenatal detection rate of patients in our clinical practice was 51% during the era in question, with variation by diagnosis similar to that observed in the STS report.

    While we cannot assure that all patients from Vermont are seen in our practice, we are the only tertiary care center and the only pediatric cardiology group in the state. In addition, the total number of major cardiac defects (115), is well within the range expected for births within our referral area (~6000/year), yielding a rate of 2.7/1000 births.

    It is self-evident that appropriate conclusions and interventions resulting from this type of analysis require accurate data entry. In the case of Vermont, virtually all of our neonatal and infant cardiac interventions are referred out of state to a single, large regional surgical center. The mechanism they used for identifying a prenatal diagnosis is unclear, but it did not include solicitation of information from us. While we cannot comment on how generalizable this observation may be, the magnitude of the discrepancy in data in our case is disturbing, particularly since it could lead to the misappropriation of scarce resources to address spurious deficiencies.

    Sincerely,
    Scott B. Yeager, M.D. Medical Director, Pediatric Cardiology
    David C. Jones, M.D. Medical Director, Fetal Diagnostic Center University of Vermont Medical Center, Burlington, Vermont

    REFERENCES
    1. Quartermain, M.D., et al., Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants. Pediatrics, 2015. 136(2): p. e378-85.

    Fundamental Diagnosis N Prenatal
    TAPVC 4 1
    Ventricular Septal Defect 7 4
    Coarctation 25 10
    Interrupted Aortic Arch 3 3
    Aortic Stenosis 3 0
    Tetralogy of Fallot 10 2
    d-Transposition 12 7
    Atrioventricular Septal Defect 4 2
    Pulmonary Stenosis 11 4
    Pulmonary Atresia/IVS 2 2
    Truncus Arteriosus 3 2
    TOF absent PV 2 2
    Double Outlet RV 5 2
    PA with VSD 4 2
    Tricuspid Valve Disease 5 3
    Single Ventricle, other 4 3
    Hypoplastic Left Heart Syndrome 11 10
    Total 115 59 (51%)

    Conflict of Interest:

    None declared

    Show Less
    Competing Interests: None declared.
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1 Aug 2015
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Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants
Michael D. Quartermain, Sara K. Pasquali, Kevin D. Hill, David J. Goldberg, James C. Huhta, Jeffrey P. Jacobs, Marshall L. Jacobs, Sunghee Kim, Ross M. Ungerleider
Pediatrics Aug 2015, 136 (2) e378-e385; DOI: 10.1542/peds.2014-3783

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Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants
Michael D. Quartermain, Sara K. Pasquali, Kevin D. Hill, David J. Goldberg, James C. Huhta, Jeffrey P. Jacobs, Marshall L. Jacobs, Sunghee Kim, Ross M. Ungerleider
Pediatrics Aug 2015, 136 (2) e378-e385; DOI: 10.1542/peds.2014-3783
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