Am Fam Physician. 2002 Dec 15;66(12):2206.
to the editor: Dr. Brundage's article, “Preconception Health Care,”1 is most informative and covers a broad range of issues. However, I would like to address the comments made in Table 2, which was titled “Carrier Screening by Ethnicity.”
If a woman of black, Southeast Asian, or Mediterranean ancestry would be interested in the prenatal diagnosis of a clinically important hemoglobinopathy (sickle cell disease, hemoglobin SC disease, sickle/thalassemia disease), the recommendation of the American College of Obstetricians and Gynecologists (ACOG) is that both the mean corpuscular volume and the hemoglobin electrophoresis should be determined.2
In addition to screening for Tay-Sachs disease, the current recommendation by ACOG is that carrier testing for Canavan's disease should also be offered if both parents are of Ashkenazi Jewish ancestry. If only one partner is of Ashkenazi Jewish descent, this partner should be screened first.3 There are other disorders, occurring more frequently in the Ashkenazi Jewish population, for which carrier testing is also available.
As Dr. Brundage pointed out, carrier testing for cystic fibrosis (CF) is addressed by the joint ACOG/American College of Medical Genetics and the National Human Genome Research Institute consensus conference. The committee recommended offering CF screening to persons with a family history of CF, reproductive partners of people who have CF, and white couples who are planning a pregnancy or seeking prenatal care. It also recommends that screening should be made available to couples in other racial and ethnic groups.4 ACOG has a good patient information brochure available on CF.
Genetic counselors, certified by the American Board of Medical Genetics and the American Board of Genetic Counseling, are available to assist physicians and consult with couples about these and other issues. An extensive listing of genetic counselors in the United States and around the world can be found at the National Society of Genetic Counselors Web site (www.nsgc.org).
REFERENCESshow all references
1. Brundage SC. Preconception health care. Am Fam Physician. 2002;65:2507–14....
2. ACOG (American College of Obstetricians and Gynecologists) committee opinion. Genetic screening for hemoglobinopathies, number 238, July 2000 (replaces number 168, February 1996). Committee on Genetics. Int J Gynaecol Obstet. 2001;74:309–10.
3. ACOG committee opinion. Screening for Canavan disease. Number 212, November 1998. Committee on Genetics. American College of Obstetricians and Gynecologists. Int J Gynaecol Obstet. 1999;65:91–2.
4. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001;3:149–54.
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