AJP Rep 2016; 06(04): e391-e406
DOI: 10.1055/s-0036-1594243
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Patient Perception of Negative Noninvasive Prenatal Testing Results

A. Theresa Wittman
1   Genetic Counseling Program, University of Texas Graduate School of Biomedical Sciences at Houston, Houston, Texas
2   Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas
,
S. Shahrukh Hashmi
1   Genetic Counseling Program, University of Texas Graduate School of Biomedical Sciences at Houston, Houston, Texas
3   Department of Pediatrics, McGovern Medical School at UT Health, Houston, Texas
,
Hector Mendez-Figueroa
4   Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at UT Health, Houston, Texas
,
Salma Nassef
2   Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas
,
Blair Stevens
1   Genetic Counseling Program, University of Texas Graduate School of Biomedical Sciences at Houston, Houston, Texas
4   Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at UT Health, Houston, Texas
,
Claire N. Singletary
1   Genetic Counseling Program, University of Texas Graduate School of Biomedical Sciences at Houston, Houston, Texas
3   Department of Pediatrics, McGovern Medical School at UT Health, Houston, Texas
4   Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at UT Health, Houston, Texas
› Author Affiliations
Further Information

Publication History

09 May 2016

17 September 2016

Publication Date:
28 November 2016 (online)

Abstract

Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result.

Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed.

Methods and Materials We conducted a prospective cohort study to assess patient understanding of the residual risk for aneuploidy after receiving a negative NIPT result. Ninety-four participants who had prenatal genetic counseling and a subsequent negative NIPT were surveyed.

Results There was a significant decline in general level of worry after a negative NIPT result (p = <0.0001). The majority of participants (61%) understood the residual risk post NIPT. Individuals with at least four years of college education were more likely to understand that NIPT does not eliminate the chance of trisomy 13/18 (p = 0.012) and sex chromosome abnormality (p = 0.039), and were more likely to understand which conditions NIPT tests for (p = 0.021), compared to those women with less formal education.

Conclusion These data demonstrate that despite the relatively recent implementation of NIPT into obstetric practice, the majority of women are aware of its limitations after receiving genetic counseling. However, clinicians may need to consider alternative ways to communicate the limitations of NIPT to those women with less formal education to ensure understanding.

 
  • References

  • 1 Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med 2009; 360 (24) 2556-2562
  • 2 Wapner R, Thom E, Simpson JL , et al; First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003; 349 (15) 1405-1413
  • 3 Positive predictive value again. BJOG 1999; 106 (9) vii-viii
  • 4 Palomaki GE, Kloza EM, Lambert-Messerlian GM , et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011; 13 (11) 913-920
  • 5 Palomaki GE, Deciu C, Kloza EM , et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012; 14 (3) 296-305
  • 6 Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP ; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012; 119 (5) 890-901
  • 7 Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013; 42 (1) 34-40
  • 8 Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015; 45 (3) 249-266
  • 9 Neufeld-Kaiser WA, Cheng EY, Liu YJ. Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center. BMC Med 2015; 13: 129
  • 10 Mercer MB, Agatisa PK, Farrell RM. What patients are reading about noninvasive prenatal testing: an evaluation of Internet content and implications for patient-centered care. Prenat Diagn 2014; 34 (10) 986-993
  • 11 Tiller GE, Kershberg HB, Goff J, Coffeen C, Liao W, Sehnert AJ. Women's views and the impact of noninvasive prenatal testing on procedures in a managed care setting. Prenat Diagn 2015; 35 (5) 428-433
  • 12 Hall S, Bobrow M, Marteau TM. Psychological consequences for parents of false negative results on prenatal screening for Down's syndrome: retrospective interview study. BMJ 2000; 320 (7232): 407-412
  • 13 Wong AE, Collingham JP, Koszut SP, Grobman WA. Maternal factors associated with misperceptions of the second-trimester sonogram. Prenat Diagn 2012; 32 (11) 1029-1034
  • 14 Goel V, Glazier R, Holzapfel S, Pugh P, Summers A. Evaluating patient's knowledge of maternal serum screening. Prenat Diagn 1996; 16 (5) 425-430
  • 15 Cho RN, Plunkett BA, Wolf MS, Simon CE, Grobman WA. Health literacy and patient understanding of screening tests for aneuploidy and neural tube defects. Prenat Diagn 2007; 27 (5) 463-467
  • 16 Gates EA. Communicating risk in prenatal genetic testing. J Midwifery Womens Health 2004; 49 (3) 220-227
  • 17 United States Census Bureau. Educational Attainment in the United States. 2014 . Available at: http://www.census.gov/hhes/socdemo/education/data . Accessed February 18, 2016
  • 18 Vlemmix F, Warendorf JK, Rosman AN , et al. Decision aids to improve informed decision-making in pregnancy care: a systematic review. BJOG 2013; 120 (3) 257-266