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Differential utilization of expanded genetic screening tests in patients of reproductive ages from private and academic practices

  • Corina Schoen , Joaquin Santolaya-Forgas EMAIL logo , Mehmet Genc and Elena Ashkinadze
Published/Copyright: October 8, 2014
Journal of Perinatal Medicine
From the journal Journal of Perinatal Medicine Volume 43 Issue 6

Abstract

Objective: We sought to evaluate the types of genetic screening tests that are performed in women of childbearing ages in New Jersey.

Method: Data from patients who had a reproductive genetics consultation between January 1, 2012, and July 31, 2012, were stratified according to the referring providers, i.e., those from academic or private practices, and descriptive analyses performed. Unconventional genetic screening was defined as any test ordered by the referring health care provider outside the recommendations from the American Congress of Obstetricians and Gynecologists or the American College of Medical Genetics and Genomics.

Results: Overall, 30% of 371 patients referred for a genetic consultation underwent unconventional screening. As compared to patients from academic practices, the relative rate of unconventional screening was 10-fold higher among patients from private practices, resulting in a relative 34-fold increase in the estimated cost in genetic screening (P<0.01).

Conclusion: This set of preliminary observations highlight the need for further state, nationwide, and international studies to understand the financial, personal, and societal impact that this discrepancy health care system in the use of genetic carrier screening portends.

Keywords: Extended carrier screening tests; genetic screening; prenatal genetic counseling; reproductive genetics
Corresponding author: Joaquin Santolaya-Forgas, MD, PhD, Section Head of Reproductive Genetics, Professor of Obstetrics and Gynecology, Adjunct Professor of Genetics, Rutgers-Robert Wood Johnson Medical School, the State University of New Jersey, 125 Paterson Street, Room 2151, New Brunswick, NJ 08901, USA, Phone: +1-732-235-6632, Fax: +1-732-235-6627, E-mail: ; and Perinatal Institute, Jersey Shore University Medical Center, Neptune, NJ, USA

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The authors stated that there are no conflicts of interest regarding the publication of this article.

Received: 2014-5-12
Accepted: 2014-9-15
Published Online: 2014-10-8
Published in Print: 2015-11-1

©2015 by De Gruyter

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  11. Association of maternal blood pressure in pregnancy with blood pressure of their offspring through adolescence
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  16. Delivery outcomes after day and night onset of labour
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  21. First-trimester fetal growth discordance and development of preeclampsia in dichorionic twin pregnancies
  22. Original articles – Newborn
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  24. A longitudinal study of brainstem auditory response from birth to late term in late preterm babies and abnormal findings in high-risk babies
  25. Suctioning habits in the delivery room and the influence on postnatal adaptation – a video analysis
  26. Short communications
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  29. Congress Calendar
  30. Congress Calendar
https://doi.org/10.1515/jpm-2014-0160
Keywords for this article
Extended carrier screening tests; genetic screening; prenatal genetic counseling; reproductive genetics

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Maternal risk: assessment and management
  4. Original articles – Obstetrics
  5. Ebola virus screening during pregnancy in West Africa: unintended consequences
  6. Strain at the internal cervical os assessed with quasi-static elastography is associated with the risk of spontaneous preterm delivery at ≤34 weeks of gestation
  7. Can routine laboratory parameters predict adverse pregnancy outcomes in intrahepatic cholestasis of pregnancy?
  8. Pulmonary edema in pregnancy and the puerperium: a cohort study of 53 cases
  9. Incidence and outcomes of women with Hodgkin’s lymphoma in pregnancy: a population-based study on 7.9 million births
  10. Differential utilization of expanded genetic screening tests in patients of reproductive ages from private and academic practices
  11. Association of maternal blood pressure in pregnancy with blood pressure of their offspring through adolescence
  12. Oxytocin utilization for labor induction in obese and lean women
  13. Breech delivery in the all fours position: a prospective observational comparative study with classic assistance
  14. Position at birth as an important factor for the occurrence of anal sphincter tears: a retrospective cohort study
  15. Emergency peripartum hysterectomy and risk factors by mode of delivery and obstetric history: a 10-year review from Helsinki University Central Hospital
  16. Delivery outcomes after day and night onset of labour
  17. Original articles – Fetus
  18. Perinatal outcome of congenital heart disease in a population with high consanguinity
  19. Complex and irregular heart rate dynamics in fetuses compromised by maternal anemia as a high-risk pregnancy
  20. Clinical application of fetal left modified myocardial performance index in the evaluation of fetal growth restriction
  21. First-trimester fetal growth discordance and development of preeclampsia in dichorionic twin pregnancies
  22. Original articles – Newborn
  23. Neonatal outcome in pregnant patients with antiphospholipid syndrome
  24. A longitudinal study of brainstem auditory response from birth to late term in late preterm babies and abnormal findings in high-risk babies
  25. Suctioning habits in the delivery room and the influence on postnatal adaptation – a video analysis
  26. Short communications
  27. Management of vasa previa during pregnancy
  28. Uterine rupture after the uterine fundal pressure maneuver
  29. Congress Calendar
  30. Congress Calendar
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