Racial-ethnic differences in prenatal diagnostic test use and outcomes: Preferences, socioeconomics, or patient knowledge?

doi:10.1016/0029-7844(96)00017-8

Obstetrics & Gynecology

Volume 87, Issue 5, Part 1, May 1996, Pages 675-682

https://doi.org/10.1016/0029-7844(96)00017-8 Get rights and content

Objective

To determine whether use of chorionic villus sampling and amniocentesis varies by racial-ethnic group and, if so, whether this variation is reflected in the prevalence of Down syndrome-affected births to women age 35 and older, the ages at which prenatal diagnosis is offered currently.

Methods

Medical charts of 238 women 35 years of age and older presenting for care at the University of California at San Francisco by 20 gestational weeks in 1993 and 1994 were reviewed to assess prenatal diagnostic test use. The prevalence of Down syndrome-affected births in California during 1983–1991 was obtained from the Birth Defects Monitoring Program.

Results

Latinas and African-American women were much less likely to undergo prenatal diagnosis than were whites and Asians. Odds ratios (OR) and 95% confidence intervals (CI, with white women serving as the reference group, were as follows: Asians 1.16 (0.57–2.36), Latinas 0.19 (0.08–0.43), and African-Americans 0.19 (0.07–0.49). Trends persisted, at diminished magnitude, after adjustment for socioeconomic characteristics: OR for Asians 1.77 (0.78–3.98), Latinas 0.28 (0.09–0.83), and African-Americans 0.33 (0.10–1.10). Non-white women age 35 and older were significantly more likely than white women to give birth to a Down syndrome-affected infant: risk ratios for Asians 1.81 (1.61–2.03), Latinas 3.00 (2.74–3.28), and African-Americans 1.86 (1.63–2.11).

Conclusion

Racial-ethnic differences exist in prenatal diagnostic test use and associated outcomes in women age 35 and older. Socioeconomic factors are partially responsible; patient education and preferences may play a role.

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Citation Excerpt :
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Exome sequencing was performed on DNA from 15 anomalous fetuses and from the peripheral blood of their parents. Parents provided consent to be informed of diagnostic results in the fetus, medically actionable findings in the parents, and their identification as carrier couples for significant autosomal recessive conditions. We assessed the perceptions and understanding of exome sequencing using mixed methods in 15 mother−father dyads.
In seven (47%) of 15 fetuses, exome sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: COL1A1, MUSK, KCTD1, RTTN, TMEM67, PIEZO1 and DYNC2H1. One additional case revealed a de novo nonsense mutation in a novel candidate gene (MAP4K4). The perceived likelihood that exome sequencing would explain the results (5.2 on a 10-point scale) was higher than the approximately 30% diagnostic yield discussed in pretest counseling.
Exome sequencing had diagnostic utility in a highly select population of fetuses where a genetic diagnosis was highly suspected. Challenges related to genetics literacy and variant interpretation must be addressed by highly tailored pre- and posttest genetic counseling.
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^*: This investigation was supported by grants from the National Institute of Child Health and Human Development (no. R01 HD300041) and the Agency for Health Care Policy and Research (no. HS07373).

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Racial-ethnic differences in prenatal diagnostic test use and outcomes: Preferences, socioeconomics, or patient knowledge?*

Objective

Methods

Results

Conclusion

Am J Obstet Gynecol

Lancet

Antenatal diagnosis of genetic disorders

Prenatal chromosomal diagnosis: Racial and geographic variation for older women in Georgia

JAMA

Uptake of amniocentesis in women aged 38 years or more by the time of the expected date of delivery: A two-year retrospective study

Br J Obstet Gynaecol

Comparative epidemiology of Down syndrome in two United States populations, 1970 to 1989

Am J Epidemiol

Birth prevalence of Down syndrome in a predominantly Latino population: A 15-year study

Teratology

Evaluating the quality of medical care

Milbank Mem Fund Q