The Ashkenazi Jewish carrier screening panel: Evolution, status quo, and disparities

Prenatal Diagnosis

Volumn 34, Issue 12, 2014, Pages 1161-1167

  Hoffman, Jodi D ^a   Park, Jessica J ^b   Schreiber Agus, Nicole ^c   Kornreich, Ruth ^d   Tanner, Alice K ^e   Keiles, Steven ^f   Friedman, Kenneth J ^g   Heim, Ruth A ^g  

^a TUFTS MEDICAL CENTER   (United States)

^b TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f AMBRY GENETICS   (United States)

^g LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE;

ARTICLE; ASHKENAZI JEW; DISEASE CARRIER; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE; HETEROZYGOTE DETECTION; HUMAN; HYPERINSULINISM; JOUBERT SYNDROME; MAPLE SYRUP URINE DISEASE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; SYSTEMATIC REVIEW; USHER SYNDROME; WALKER WARBURG SYNDROME; ETHNOLOGY; GENETIC DISORDER; GENETICS; JEW; STATISTICS AND NUMERICAL DATA;

GENE FREQUENCY; GENETIC DISEASES, INBORN; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; JEWS;

EID: 84914179247     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4446     Document Type: Article

References (13)

1. Kaback M, Lim-Steele J, Dabholkar D, et al. Tay-Sachs disease carrier screening, prenatal diagnosis, and the molecular era: an international perspective, 1970 to 1993. JAMA 1993;270(19):2307-15.
2. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion no. 298. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2004;104:425-8.
3. Monaghan KG, Feldman GL, Palomaki GE, et al. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. ACMG practice guidelines. Genet Med 2008;10:57-72.
4. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion no. 442. Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2009;114:950-3.
5. Ness SL, Ben-Yosef T, Bar-Lev A, et al. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003;40:767-72.
6. Scott SA, Edelmann L, Liu L, et al. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 2010;31(11):1240-50.
7. Anderson SL, Ekstein J, Donnelly MC, et al. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum Genet 2004;115(3):185-90.
8. Pew Research Center. 2013. Survey of U.S. Jews. http://www.pewforum.org/files/2013/10/jewish-american-full-report-for-web.pdf [Accessed on January 2014].
9. Manzini MC, Gleason D, Chang BS, et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat 2008;29(11):E231-41.
10. Sugarman E, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72, 400 specimens. Eur J Hum Genet 2012;20:27-32.
11. Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23, 453 individuals. Genet Med 2013;15(3):178-86.
12. Jalas C, Anderson SL, Laufer T, et al. A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. Blood Cells Mol Dis 2011;47(1):79-83.
13. Schneider A, Nakagawa S, Keep R, et al. Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: hexosaminidase a enzyme assay is essential for accurate testing. Am J Med Genet A 2009;149A(11):2444-7.