Abstract:
:We report here an evaluation of 55 pregnancies at risk for a sickle hemoglobinopathy prenatally diagnosed by restriction-endonuclease analysis, with the endonucleases MstII and HpaI, of amniocyte DNA. The diagnosis was completed in all cases. Eleven fetuses were predicted to be affected, of which six were terminated. Forty-one of the 55 cases were confirmed. One false-negative was reported in a case predicted to be hemoglobin AS but that was determined to be hemoglobin SS at birth. We estimate that the 55 cases represent only 5% of the pregnancies at risk for a sickle hemoglobinopathy in the New York metropolitan area during the study period. We conclude that the prenatal diagnosis of sickle hemoglobinopathies by molecular methods is reliable. However, the efficiency of utilization and effectiveness of prenatal testing is dependent on the early prospective identification of couples at risk and on the education of communities concerning the significant morbidity of the sickle hemoglobinopathies and the reproductive choices now available to them.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Driscoll MC,Lerner N,Anyane-Yeboa K,Maidman J,Warburton D,Schaefer-Rego K,Hsu R,Ince C,Malin J,Pallai Msubject
Has Abstract,Author List Incompletepub_date
1987-06-01 00:00:00pages
548-58issue
6eissn
0002-9297issn
1537-6605journal_volume
40pub_type
杂志文章abstract::Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. Recently, an autoimmune regulator gene (AIRE-1), which is located on chromosome 21q22.3, has been identified, and mutations in...
journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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pub_type: 杂志文章,meta分析
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
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doi:
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1995-04-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/514877
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:1990-11-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:2015-06-04 00:00:00