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Prenatal Testing in the Genomic Age: Clinical Outcomes, Quality of Life, and Costs

Kaimal, Anjali J. MD, MAS; Norton, Mary E. MD; Kuppermann, Miriam PhD, MPH

doi: 10.1097/AOG.0000000000001029
Contents: Original Research

OBJECTIVE: To use a decision-analytic model to assess a comprehensive set of outcomes of prenatal genetic testing strategies among women of varying ages.

METHODS: We assessed outcomes of six testing strategies incorporating diagnostic testing with chromosomal microarray, multiple marker screening, cell-free DNA screening, and nuchal translucency screening alone, in combination, or in sequence. Clinical outcomes included prenatal detection or birth of a neonate with a significant chromosomal abnormality and diagnostic procedures performed. Other outcomes included maternal quality-adjusted life-years and costs. Sensitivity analyses were conducted to examine the robustness of the findings.

RESULTS: At all ages assessed, screening strategies starting with multiple marker screening offered the highest detection rate when all chromosomal abnormalities were considered. Incorporating cell-free DNA as an optional secondary screen decreased the number of diagnostic procedures, but also decreased the number of abnormalities diagnosed prenatally, resulting in a similar number of procedures per case diagnosed at age 30 years; the option of secondary cell-free DNA screening becomes more favorable at older ages. Multiple marker screening with optional follow-up diagnostic testing was the most effective (highest quality-adjusted life-years) and least expensive strategy at ages 20–38 years. At age 40 years or older, cell-free DNA screening was optimal with an incremental cost-effectiveness ratio of $73,154 per quality-adjusted life-year.

CONCLUSION: When considering all detectable chromosome problems as well as patient preferences and baseline risks, multiple marker screening with the option of diagnostic testing for screen-positive results is the optimal strategy for most women. At age 40 years and older, cell-free DNA as a primary screen becomes optimal and is cost-effective.


Multiple marker screening with the option of diagnostic testing for screen-positive results is the optimal strategy for most women desiring prenatal testing.

Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, Massachusetts; and the Departments of Obstetrics, Gynecology & Reproductive Sciences and Epidemiology & Biostatistics, University of California, San Francisco, San Francisco, California.

Corresponding author: Anjali J. Kaimal, MD, MAS, Massachusetts General Hospital, 55 Fruit Street, Founders 422, Boston, MA 02114; e-mail:

Financial Disclosure Dr. Norton is a Co-Principal Investigator on clinical trial NCT0145167 sponsored by Ariosa Diagnostics. She has received unrestricted research funding to be used at her own discretion from Natera. She is also an unpaid member of the Perinatal Advisory Committee for the California Prenatal Screening Program. Dr. Kuppermann was the University of California, San Francisco site Principal Investigator for clinical trial NCT0145167, sponsored by Arisoa Diagnostics, and her institution has received unrestricted research funding for her research program from Verinata Health and Natera. The other author did not report any potential conflicts of interest.

Participant remuneration for the utility measurement component of this study was funded by an unrestricted research grant to the University of California, San Francisco, from Verinata Health.

© 2015 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.