Identification of fetuses with hemoglobin Bart's disease using middle cerebral artery peak systolic velocity

Objectives To determine the sensitivity and specificity of middle cerebral artery peak systolic velocity (MCA‐PSV) in mid‐pregnancy for the identification of homozygous α‐thalassemia‐1 (hemoglobin (Hb) Bart's disease) in fetuses at risk of the disease. Methods A total of 88 pregnancies (91 fetu...

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Veröffentlicht in:Ultrasound in obstetrics & gynecology 2009-06, Vol.33 (6), p.694-697
Hauptverfasser: Srisupundit, K., Piyamongkol, W., Tongsong, T.
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Piyamongkol, W.
Tongsong, T.
description Objectives To determine the sensitivity and specificity of middle cerebral artery peak systolic velocity (MCA‐PSV) in mid‐pregnancy for the identification of homozygous α‐thalassemia‐1 (hemoglobin (Hb) Bart's disease) in fetuses at risk of the disease. Methods A total of 88 pregnancies (91 fetuses) at risk of Hb Bart's disease and undergoing MCA‐PSV measurement before cordocentesis at 18–22 weeks of gestation were recruited into the study. Definitive diagnosis was made using the gold standard technique of Hb typing by high‐performance liquid chromatography. Results The mean ± SD age of the 88 pregnant women recruited into the study was 28.3 ± 5.7 years, the gestational age was 18.8 ± 1.1 weeks and the incidence of Hb Bart's disease was 22% (20 fetuses). Using MCA‐PSV above 1.5 multiples of the median as a cut‐off point, the sensitivity of MCA‐PSV for detecting affected fetuses was 85% (17/20 cases), with a specificity of 100%, and positive and negative predictive values of 100% and 95.9% respectively. Three of 20 fetuses with Hb Bart's disease had normal MCA‐PSV. Conclusions MCA‐PSV assessment in mid‐pregnancy is a useful method for identifying Hb Bart's disease with high sensitivity and specificity among fetuses at risk, and may allow avoidance of unnecessary cordocentesis in some cases. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.
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Methods A total of 88 pregnancies (91 fetuses) at risk of Hb Bart's disease and undergoing MCA‐PSV measurement before cordocentesis at 18–22 weeks of gestation were recruited into the study. Definitive diagnosis was made using the gold standard technique of Hb typing by high‐performance liquid chromatography. Results The mean ± SD age of the 88 pregnant women recruited into the study was 28.3 ± 5.7 years, the gestational age was 18.8 ± 1.1 weeks and the incidence of Hb Bart's disease was 22% (20 fetuses). Using MCA‐PSV above 1.5 multiples of the median as a cut‐off point, the sensitivity of MCA‐PSV for detecting affected fetuses was 85% (17/20 cases), with a specificity of 100%, and positive and negative predictive values of 100% and 95.9% respectively. Three of 20 fetuses with Hb Bart's disease had normal MCA‐PSV. Conclusions MCA‐PSV assessment in mid‐pregnancy is a useful method for identifying Hb Bart's disease with high sensitivity and specificity among fetuses at risk, and may allow avoidance of unnecessary cordocentesis in some cases. Copyright © 2009 ISUOG. Published by John Wiley &amp; Sons, Ltd.</description><identifier>ISSN: 0960-7692</identifier><identifier>EISSN: 1469-0705</identifier><identifier>DOI: 10.1002/uog.6342</identifier><identifier>PMID: 19350531</identifier><language>eng</language><publisher>Chichester, UK: John Wiley &amp; Sons, Ltd</publisher><subject>Adult ; alpha-Thalassemia - blood ; alpha-Thalassemia - diagnostic imaging ; alpha-Thalassemia - physiopathology ; Anemias. Hemoglobinopathies ; Biological and medical sciences ; Blood Flow Velocity - physiology ; Chromatography, High Pressure Liquid ; Cordocentesis ; Diseases of red blood cells ; Female ; Fetal Diseases - blood ; Fetal Diseases - diagnostic imaging ; Fetal Diseases - physiopathology ; Gestational Age ; Gynecology. Andrology. Obstetrics ; Hb Bart's disease ; Hematologic and hematopoietic diseases ; Hemoglobins, Abnormal ; homozygous α‐thalassemia‐1 ; Humans ; MCA‐PSV ; Medical sciences ; Middle Cerebral Artery - diagnostic imaging ; Middle Cerebral Artery - embryology ; Middle Cerebral Artery - physiopathology ; middle cerebral artery peak systolic velocity ; Pregnancy ; Risk Factors ; Sensitivity and Specificity ; Ultrasonography, Prenatal - methods</subject><ispartof>Ultrasound in obstetrics &amp; gynecology, 2009-06, Vol.33 (6), p.694-697</ispartof><rights>Copyright © 2009 ISUOG. 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Methods A total of 88 pregnancies (91 fetuses) at risk of Hb Bart's disease and undergoing MCA‐PSV measurement before cordocentesis at 18–22 weeks of gestation were recruited into the study. Definitive diagnosis was made using the gold standard technique of Hb typing by high‐performance liquid chromatography. Results The mean ± SD age of the 88 pregnant women recruited into the study was 28.3 ± 5.7 years, the gestational age was 18.8 ± 1.1 weeks and the incidence of Hb Bart's disease was 22% (20 fetuses). Using MCA‐PSV above 1.5 multiples of the median as a cut‐off point, the sensitivity of MCA‐PSV for detecting affected fetuses was 85% (17/20 cases), with a specificity of 100%, and positive and negative predictive values of 100% and 95.9% respectively. Three of 20 fetuses with Hb Bart's disease had normal MCA‐PSV. Conclusions MCA‐PSV assessment in mid‐pregnancy is a useful method for identifying Hb Bart's disease with high sensitivity and specificity among fetuses at risk, and may allow avoidance of unnecessary cordocentesis in some cases. Copyright © 2009 ISUOG. Published by John Wiley &amp; Sons, Ltd.</description><subject>Adult</subject><subject>alpha-Thalassemia - blood</subject><subject>alpha-Thalassemia - diagnostic imaging</subject><subject>alpha-Thalassemia - physiopathology</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Blood Flow Velocity - physiology</subject><subject>Chromatography, High Pressure Liquid</subject><subject>Cordocentesis</subject><subject>Diseases of red blood cells</subject><subject>Female</subject><subject>Fetal Diseases - blood</subject><subject>Fetal Diseases - diagnostic imaging</subject><subject>Fetal Diseases - physiopathology</subject><subject>Gestational Age</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Hb Bart's disease</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemoglobins, Abnormal</subject><subject>homozygous α‐thalassemia‐1</subject><subject>Humans</subject><subject>MCA‐PSV</subject><subject>Medical sciences</subject><subject>Middle Cerebral Artery - diagnostic imaging</subject><subject>Middle Cerebral Artery - embryology</subject><subject>Middle Cerebral Artery - physiopathology</subject><subject>middle cerebral artery peak systolic velocity</subject><subject>Pregnancy</subject><subject>Risk Factors</subject><subject>Sensitivity and Specificity</subject><subject>Ultrasonography, Prenatal - methods</subject><issn>0960-7692</issn><issn>1469-0705</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90UFv1DAQBWALgehSkPgFyBcol5SxHTvJsVRQKlXqhZ4jxx5vDd548SRU-fek7ApOcJrLp_ekeYy9FnAuAOSHOW_PjarlE7YRtekqaEA_ZRvoDFSN6eQJe0H0DQBMrcxzdiI6pUErsWHp2uM4xRCdnWIeeQ484DQTEn-I0z2_x13epjzEkX-0ZToj7iOhJeQzxXHLd9H7hNxhwaHYxFeDZeF7tN85LTTlFB3_iSm7OC0v2bNgE-Gr4z1ld58_fb38Ut3cXl1fXtxUrhZaVqibEIyXMjS6lV4LcLZGI8AYrzul7GBDaIVzYC02unOqVR69V207SKmcOmVnh9x9yT9mpKnfRXKYkh0xz9Q3SkkJrVKrfPdfKQEaKZt6he8P0JVMVDD0-xJ3tiy9gP5xg37doH_cYKVvjpnzsEP_Fx6fvoK3R2DJ2RSKHV2kP04KLbramNVVB_cQEy7_LOzvbq9-F_8CYASemA</recordid><startdate>200906</startdate><enddate>200906</enddate><creator>Srisupundit, K.</creator><creator>Piyamongkol, W.</creator><creator>Tongsong, T.</creator><general>John Wiley &amp; Sons, Ltd</general><general>Wiley</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QO</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>200906</creationdate><title>Identification of fetuses with hemoglobin Bart's disease using middle cerebral artery peak systolic velocity</title><author>Srisupundit, K. ; Piyamongkol, W. ; Tongsong, T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4152-e57ff6d22f7582d510ca4e61066d5933abaff81cc0aae759c383dedd388b223c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>alpha-Thalassemia - blood</topic><topic>alpha-Thalassemia - diagnostic imaging</topic><topic>alpha-Thalassemia - physiopathology</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Blood Flow Velocity - physiology</topic><topic>Chromatography, High Pressure Liquid</topic><topic>Cordocentesis</topic><topic>Diseases of red blood cells</topic><topic>Female</topic><topic>Fetal Diseases - blood</topic><topic>Fetal Diseases - diagnostic imaging</topic><topic>Fetal Diseases - physiopathology</topic><topic>Gestational Age</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Hb Bart's disease</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemoglobins, Abnormal</topic><topic>homozygous α‐thalassemia‐1</topic><topic>Humans</topic><topic>MCA‐PSV</topic><topic>Medical sciences</topic><topic>Middle Cerebral Artery - diagnostic imaging</topic><topic>Middle Cerebral Artery - embryology</topic><topic>Middle Cerebral Artery - physiopathology</topic><topic>middle cerebral artery peak systolic velocity</topic><topic>Pregnancy</topic><topic>Risk Factors</topic><topic>Sensitivity and Specificity</topic><topic>Ultrasonography, Prenatal - methods</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Srisupundit, K.</creatorcontrib><creatorcontrib>Piyamongkol, W.</creatorcontrib><creatorcontrib>Tongsong, T.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Ultrasound in obstetrics &amp; gynecology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Srisupundit, K.</au><au>Piyamongkol, W.</au><au>Tongsong, T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of fetuses with hemoglobin Bart's disease using middle cerebral artery peak systolic velocity</atitle><jtitle>Ultrasound in obstetrics &amp; gynecology</jtitle><addtitle>Ultrasound Obstet Gynecol</addtitle><date>2009-06</date><risdate>2009</risdate><volume>33</volume><issue>6</issue><spage>694</spage><epage>697</epage><pages>694-697</pages><issn>0960-7692</issn><eissn>1469-0705</eissn><abstract>Objectives To determine the sensitivity and specificity of middle cerebral artery peak systolic velocity (MCA‐PSV) in mid‐pregnancy for the identification of homozygous α‐thalassemia‐1 (hemoglobin (Hb) Bart's disease) in fetuses at risk of the disease. Methods A total of 88 pregnancies (91 fetuses) at risk of Hb Bart's disease and undergoing MCA‐PSV measurement before cordocentesis at 18–22 weeks of gestation were recruited into the study. Definitive diagnosis was made using the gold standard technique of Hb typing by high‐performance liquid chromatography. Results The mean ± SD age of the 88 pregnant women recruited into the study was 28.3 ± 5.7 years, the gestational age was 18.8 ± 1.1 weeks and the incidence of Hb Bart's disease was 22% (20 fetuses). Using MCA‐PSV above 1.5 multiples of the median as a cut‐off point, the sensitivity of MCA‐PSV for detecting affected fetuses was 85% (17/20 cases), with a specificity of 100%, and positive and negative predictive values of 100% and 95.9% respectively. Three of 20 fetuses with Hb Bart's disease had normal MCA‐PSV. Conclusions MCA‐PSV assessment in mid‐pregnancy is a useful method for identifying Hb Bart's disease with high sensitivity and specificity among fetuses at risk, and may allow avoidance of unnecessary cordocentesis in some cases. Copyright © 2009 ISUOG. Published by John Wiley &amp; Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley &amp; Sons, Ltd</pub><pmid>19350531</pmid><doi>10.1002/uog.6342</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record>
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subjects Adult
alpha-Thalassemia - blood
alpha-Thalassemia - diagnostic imaging
alpha-Thalassemia - physiopathology
Anemias. Hemoglobinopathies
Biological and medical sciences
Blood Flow Velocity - physiology
Chromatography, High Pressure Liquid
Cordocentesis
Diseases of red blood cells
Female
Fetal Diseases - blood
Fetal Diseases - diagnostic imaging
Fetal Diseases - physiopathology
Gestational Age
Gynecology. Andrology. Obstetrics
Hb Bart's disease
Hematologic and hematopoietic diseases
Hemoglobins, Abnormal
homozygous α‐thalassemia‐1
Humans
MCA‐PSV
Medical sciences
Middle Cerebral Artery - diagnostic imaging
Middle Cerebral Artery - embryology
Middle Cerebral Artery - physiopathology
middle cerebral artery peak systolic velocity
Pregnancy
Risk Factors
Sensitivity and Specificity
Ultrasonography, Prenatal - methods
title Identification of fetuses with hemoglobin Bart's disease using middle cerebral artery peak systolic velocity
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