Literature DB >> 15292027

ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

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Abstract

Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis as part of routine obstetric care. Based on the criteria used to justify offering carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis, the American College of Obstetricians and Gynecologists' Committee on Genetics recommends that couples of Ashkenazi Jewish ancestry also should be offered carrier screening for familial dysautonomia. Individuals of Ashkenazi Jewish descent may inquire about the availability of carrier screening for other disorders. Carrier screening is available for mucolipidosis IV Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher's disease.

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Year:  2004        PMID: 15292027     DOI: 10.1097/00006250-200408000-00050

Source DB:  PubMed          Journal:  Obstet Gynecol        ISSN: 0029-7844            Impact factor:   7.661


  18 in total

1.  Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.

Authors:  Iris Schrijver; Maigi Külm; Phyllis I Gardner; Eugene P Pergament; Morris B Fiddler
Journal:  J Mol Diagn       Date:  2007-04       Impact factor: 5.568

2.  Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

Authors:  Lisa Kalman; Jean Amos Wilson; Arlene Buller; John Dixon; Lisa Edelmann; Louis Geller; William Edward Highsmith; Leonard Holtegaard; Ruth Kornreich; Elizabeth M Rohlfs; Toby L Payeur; Tina Sellers; Lorraine Toji; Kasinathan Muralidharan
Journal:  J Mol Diagn       Date:  2009-10-08       Impact factor: 5.568

3.  Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.

Authors:  Yunru Shao; Shuling Liu; Karen Grinzaid
Journal:  J Community Genet       Date:  2015-01-07

4.  Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Authors:  Stuart A Scott; Lisa Edelmann; Liu Liu; Minjie Luo; Robert J Desnick; Ruth Kornreich
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

Review 5.  Emptying the stores: lysosomal diseases and therapeutic strategies.

Authors:  Frances M Platt
Journal:  Nat Rev Drug Discov       Date:  2017-11-17       Impact factor: 84.694

6.  Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases.

Authors:  Jessica R L Warsch; Sean Warsch; Elizabeth Herman; Lauren Zakarin; Adele Schneider; Jodi Hoffman; Deborah Wasserman; Deborah Barbouth
Journal:  J Community Genet       Date:  2014-01-12

7.  Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Authors:  Alessandra Colaianni; Subhashini Chandrasekharan; Robert Cook-Deegan
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.822

8.  Patient physical characteristics and primary care physician decision making in preconception genetic screening.

Authors:  V L Bonham; S Knerr; W G Feero; N Stevens; J F Jenkins; C M McBride
Journal:  Public Health Genomics       Date:  2009-11-26       Impact factor: 2.000

Review 9.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

10.  The clinical content of preconception care: genetics and genomics.

Authors:  Benjamin D Solomon; Brian W Jack; W Gregory Feero
Journal:  Am J Obstet Gynecol       Date:  2008-12       Impact factor: 8.661

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