Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis

Stuart H. Orkin; Peter F.R. Little; Haig H. Kazazian; Corinne D. Boehm; Peter F.R. Little; Haig H. Kazazian; Corinne Dee Boehm; Peter F.R. Little; Haig H. Kazazian; Corinne Dee Boehm

doi:10.1056/NEJM198207013070106

Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis

Stuart H. Orkin, Peter F.R. Little, Haig H. Kazazian, Corinne D. Boehm, Peter F.R. Little, Haig H. Kazazian, Corinne Dee Boehm, Peter F.R. Little, Haig H. Kazazian, Corinne Dee Boehm

Research output: Contribution to journal › Article › peer-review

111 Scopus citations

Abstract

DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.¹ ^, ² This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies. When methods for acquisition of fetal blood and for analysis of globin-chain synthesis were developed, the prenatal diagnosis of sickle-cell anemia and the thalassemia syndromes became a practical reality.³ ^, ⁴ Nearly 2000 fetuses at risk for these disorders have now been studied worldwide.⁵ However, a fetal loss of about 5 per cent due to these invasive procedures has provided the impetus for the development of diagnostic approaches that use fetal DNA rather than.

Original language	English (US)
Pages (from-to)	32-36
Number of pages	5
Journal	New England Journal of Medicine
Volume	307
Issue number	1
DOIs	https://doi.org/10.1056/NEJM198207013070106
State	Published - Jul 1 1982
Externally published	Yes

ASJC Scopus subject areas

General Medicine

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title = "Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis",

abstract = "DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.1 , 2 This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies. When methods for acquisition of fetal blood and for analysis of globin-chain synthesis were developed, the prenatal diagnosis of sickle-cell anemia and the thalassemia syndromes became a practical reality.3 , 4 Nearly 2000 fetuses at risk for these disorders have now been studied worldwide.5 However, a fetal loss of about 5 per cent due to these invasive procedures has provided the impetus for the development of diagnostic approaches that use fetal DNA rather than.",

author = "Orkin, {Stuart H.} and Little, {Peter F.R.} and Kazazian, {Haig H.} and Boehm, {Corinne D.} and Little, {Peter F.R.} and Kazazian, {Haig H.} and Boehm, {Corinne Dee} and Little, {Peter F.R.} and Kazazian, {Haig H.} and Boehm, {Corinne Dee}",

year = "1982",

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doi = "10.1056/NEJM198207013070106",

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T1 - Improved Detection of the Sickle Mutation by DNA Analysis

T2 - Application to Prenatal Diagnosis

AU - Orkin, Stuart H.

AU - Little, Peter F.R.

AU - Kazazian, Haig H.

AU - Boehm, Corinne D.

AU - Little, Peter F.R.

AU - Kazazian, Haig H.

AU - Boehm, Corinne Dee

AU - Little, Peter F.R.

AU - Kazazian, Haig H.

AU - Boehm, Corinne Dee

PY - 1982/7/1

Y1 - 1982/7/1

N2 - DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.1 , 2 This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies. When methods for acquisition of fetal blood and for analysis of globin-chain synthesis were developed, the prenatal diagnosis of sickle-cell anemia and the thalassemia syndromes became a practical reality.3 , 4 Nearly 2000 fetuses at risk for these disorders have now been studied worldwide.5 However, a fetal loss of about 5 per cent due to these invasive procedures has provided the impetus for the development of diagnostic approaches that use fetal DNA rather than.

AB - DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.1 , 2 This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies. When methods for acquisition of fetal blood and for analysis of globin-chain synthesis were developed, the prenatal diagnosis of sickle-cell anemia and the thalassemia syndromes became a practical reality.3 , 4 Nearly 2000 fetuses at risk for these disorders have now been studied worldwide.5 However, a fetal loss of about 5 per cent due to these invasive procedures has provided the impetus for the development of diagnostic approaches that use fetal DNA rather than.

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Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis

Abstract

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