Risk of neural tube defects in the offspring of thalassaemia carriers in Hong Kong Chinese
The risk of having an offspring with neural tube defect is negatively correlated with early pregnancy maternal folate levels. Thalassaemia carriers often have subnormal folate levels. We postulate that their offspring may be at increased risk of having neural tube defect. We retrospectively reviewed...
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| Veröffentlicht in: | Prenatal diagnosis 1999-12, Vol.19 (12), p.1135-1137 |
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| description | The risk of having an offspring with neural tube defect is negatively correlated with early pregnancy maternal folate levels. Thalassaemia carriers often have subnormal folate levels. We postulate that their offspring may be at increased risk of having neural tube defect. We retrospectively reviewed the records of 1961 Chinese women referred to a tertiary centre for prenatal diagnosis between January 1997 and August 1998. Women with a mean corpuscular volume greater than 80 fl were assumed not to be α‐thalassaemia‐1 or β‐thalassaemia heterozygotes. α‐ and β‐thalassaemia heterozygotes were diagnosed by haemoglobin studies. Of the 1961 women studied, pregnancy outcome was not available in 20 and thalassaemia screening was not available in 109 and these were excluded from the final analysis. Two‐hundred‐and‐six women were α‐thalassaemia‐1 heterozygotes, 102 women were β‐thalassaemia heterozygotes and one woman had HbE disease. Three α‐thalassaemia carriers and one β‐thalassaemia carrier had a pregnancy affected by anencephaly (odds=1:76). In the 1523 non‐carriers, five pregnancies were affected by spina bifida (odds=1:304). The odds ratio (95 per cent confidence interval) for neural tube defects in the α‐ and β‐thalassaemia carriers was 3.99 (1.07 to 14.94; p |
| doi_str_mv | 10.1002/(SICI)1097-0223(199912)19:12<1135::AID-PD720>3.0.CO;2-B |
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Thalassaemia carriers often have subnormal folate levels. We postulate that their offspring may be at increased risk of having neural tube defect. We retrospectively reviewed the records of 1961 Chinese women referred to a tertiary centre for prenatal diagnosis between January 1997 and August 1998. Women with a mean corpuscular volume greater than 80 fl were assumed not to be α‐thalassaemia‐1 or β‐thalassaemia heterozygotes. α‐ and β‐thalassaemia heterozygotes were diagnosed by haemoglobin studies. Of the 1961 women studied, pregnancy outcome was not available in 20 and thalassaemia screening was not available in 109 and these were excluded from the final analysis. Two‐hundred‐and‐six women were α‐thalassaemia‐1 heterozygotes, 102 women were β‐thalassaemia heterozygotes and one woman had HbE disease. Three α‐thalassaemia carriers and one β‐thalassaemia carrier had a pregnancy affected by anencephaly (odds=1:76). In the 1523 non‐carriers, five pregnancies were affected by spina bifida (odds=1:304). The odds ratio (95 per cent confidence interval) for neural tube defects in the α‐ and β‐thalassaemia carriers was 3.99 (1.07 to 14.94; p<0.05, Chi‐square test). Because of the small number of affected pregnancies studied, the finding needs to be substantiated by a larger series. If the increased risk is genuine, women need to be screened for thalassaemia before conception and the thalassaemia carriers should be given periconceptional folate supplement to reduce the occurrence of neural tube defects. Copyright © 1999 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/(SICI)1097-0223(199912)19:12<1135::AID-PD720>3.0.CO;2-B</identifier><identifier>PMID: 10590431</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>anencephaly ; Asian Continental Ancestry Group - genetics ; Biological and medical sciences ; Case-Control Studies ; Chinese ; Erythrocyte Indices ; Female ; Fetal Diseases - diagnosis ; Fetal Diseases - epidemiology ; Fetal Diseases - genetics ; folate ; Folic Acid - blood ; Gynecology. Andrology. Obstetrics ; Heterozygote ; Hong Kong - epidemiology ; Humans ; Management. Prenatal diagnosis ; Medical Records ; Medical sciences ; neural tube defect ; Neural Tube Defects - diagnosis ; Neural Tube Defects - epidemiology ; Neural Tube Defects - genetics ; Odds Ratio ; Pregnancy ; Pregnancy Outcome ; Pregnancy. Fetus. Placenta ; Prenatal Diagnosis ; Retrospective Studies ; Risk Factors ; thalassaemia ; Thalassemia - epidemiology ; Thalassemia - genetics</subject><ispartof>Prenatal diagnosis, 1999-12, Vol.19 (12), p.1135-1137</ispartof><rights>Copyright © 1999 John Wiley & Sons, Ltd.</rights><rights>2000 INIST-CNRS</rights><rights>Copyright 1999 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3500-26cabfd215a42d48ef53b92368bd5e84d18cc34affa5013dc2dec23abeaa57e73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1135%3A%3AAID-PD720%3E3.0.CO%3B2-B$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1135%3A%3AAID-PD720%3E3.0.CO%3B2-B$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1215080$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10590431$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lam, Yung Hang</creatorcontrib><creatorcontrib>Tang, Mary Hoi Yin</creatorcontrib><title>Risk of neural tube defects in the offspring of thalassaemia carriers in Hong Kong Chinese</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>The risk of having an offspring with neural tube defect is negatively correlated with early pregnancy maternal folate levels. Thalassaemia carriers often have subnormal folate levels. We postulate that their offspring may be at increased risk of having neural tube defect. We retrospectively reviewed the records of 1961 Chinese women referred to a tertiary centre for prenatal diagnosis between January 1997 and August 1998. Women with a mean corpuscular volume greater than 80 fl were assumed not to be α‐thalassaemia‐1 or β‐thalassaemia heterozygotes. α‐ and β‐thalassaemia heterozygotes were diagnosed by haemoglobin studies. Of the 1961 women studied, pregnancy outcome was not available in 20 and thalassaemia screening was not available in 109 and these were excluded from the final analysis. Two‐hundred‐and‐six women were α‐thalassaemia‐1 heterozygotes, 102 women were β‐thalassaemia heterozygotes and one woman had HbE disease. Three α‐thalassaemia carriers and one β‐thalassaemia carrier had a pregnancy affected by anencephaly (odds=1:76). In the 1523 non‐carriers, five pregnancies were affected by spina bifida (odds=1:304). The odds ratio (95 per cent confidence interval) for neural tube defects in the α‐ and β‐thalassaemia carriers was 3.99 (1.07 to 14.94; p<0.05, Chi‐square test). Because of the small number of affected pregnancies studied, the finding needs to be substantiated by a larger series. If the increased risk is genuine, women need to be screened for thalassaemia before conception and the thalassaemia carriers should be given periconceptional folate supplement to reduce the occurrence of neural tube defects. Copyright © 1999 John Wiley & Sons, Ltd.</description><subject>anencephaly</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Chinese</subject><subject>Erythrocyte Indices</subject><subject>Female</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - epidemiology</subject><subject>Fetal Diseases - genetics</subject><subject>folate</subject><subject>Folic Acid - blood</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Heterozygote</subject><subject>Hong Kong - epidemiology</subject><subject>Humans</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical Records</subject><subject>Medical sciences</subject><subject>neural tube defect</subject><subject>Neural Tube Defects - diagnosis</subject><subject>Neural Tube Defects - epidemiology</subject><subject>Neural Tube Defects - genetics</subject><subject>Odds Ratio</subject><subject>Pregnancy</subject><subject>Pregnancy Outcome</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Diagnosis</subject><subject>Retrospective Studies</subject><subject>Risk Factors</subject><subject>thalassaemia</subject><subject>Thalassemia - epidemiology</subject><subject>Thalassemia - genetics</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF1v0zAUhi0EYmXwF1AuENouUvwRN0mHQFsGW8VEgY0N7ebIcY6pWZoMOxHs3-Ms1UACiRsfy3786vVDyGtGp4xS_mLndFEsdhnN05hyLnZYnueM77J8zvhLxoScz_cXh_GHw5TTV2JKp8Vyj8cH98jk7s19MqEs7EUm2RZ55P23EJzxPH1IthiVOU0Em5DLT9ZfRa2JGuydqqOuLzGq0KDufGSbqFthuDX-2tnm68B1K1Ur7xWurYq0cs6iuyWP2wC8G5ZiZRv0-Jg8MKr2-GQzt8nnt2_OiuP4ZHm0KPZPYi0kpTGfaVWaijOpEl4lGRopypyLWVZWErOkYpnWIlHGKEmZqDSvUHOhSlRKppiKbfJ8zL127fcefQdr6zXWtWqw7T3McpHkgtEAXoygdq33Dg2EX62VuwFGYdAOMGiHQSEMCmHUHgYMa9AOELTDrXYQQKFYAoeDkPx0U6Ev11j9kTt6DsCzDaC8VrVxqtHW_-bC72k2NPwyYj9sjTd_1ftvu3-VGw9CdDxGW9_hz7to5a5glopUwsX7IzhNzrKPl-IczsUvqVy5qQ</recordid><startdate>199912</startdate><enddate>199912</enddate><creator>Lam, Yung Hang</creator><creator>Tang, Mary Hoi Yin</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><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>7X8</scope></search><sort><creationdate>199912</creationdate><title>Risk of neural tube defects in the offspring of thalassaemia carriers in Hong Kong Chinese</title><author>Lam, Yung Hang ; Tang, Mary Hoi Yin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3500-26cabfd215a42d48ef53b92368bd5e84d18cc34affa5013dc2dec23abeaa57e73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>anencephaly</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Chinese</topic><topic>Erythrocyte Indices</topic><topic>Female</topic><topic>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - epidemiology</topic><topic>Fetal Diseases - genetics</topic><topic>folate</topic><topic>Folic Acid - blood</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Heterozygote</topic><topic>Hong Kong - epidemiology</topic><topic>Humans</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical Records</topic><topic>Medical sciences</topic><topic>neural tube defect</topic><topic>Neural Tube Defects - diagnosis</topic><topic>Neural Tube Defects - epidemiology</topic><topic>Neural Tube Defects - genetics</topic><topic>Odds Ratio</topic><topic>Pregnancy</topic><topic>Pregnancy Outcome</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis</topic><topic>Retrospective Studies</topic><topic>Risk Factors</topic><topic>thalassaemia</topic><topic>Thalassemia - epidemiology</topic><topic>Thalassemia - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lam, Yung Hang</creatorcontrib><creatorcontrib>Tang, Mary Hoi Yin</creatorcontrib><collection>Istex</collection><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>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lam, Yung Hang</au><au>Tang, Mary Hoi Yin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Risk of neural tube defects in the offspring of thalassaemia carriers in Hong Kong Chinese</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1999-12</date><risdate>1999</risdate><volume>19</volume><issue>12</issue><spage>1135</spage><epage>1137</epage><pages>1135-1137</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>The risk of having an offspring with neural tube defect is negatively correlated with early pregnancy maternal folate levels. Thalassaemia carriers often have subnormal folate levels. We postulate that their offspring may be at increased risk of having neural tube defect. We retrospectively reviewed the records of 1961 Chinese women referred to a tertiary centre for prenatal diagnosis between January 1997 and August 1998. Women with a mean corpuscular volume greater than 80 fl were assumed not to be α‐thalassaemia‐1 or β‐thalassaemia heterozygotes. α‐ and β‐thalassaemia heterozygotes were diagnosed by haemoglobin studies. Of the 1961 women studied, pregnancy outcome was not available in 20 and thalassaemia screening was not available in 109 and these were excluded from the final analysis. Two‐hundred‐and‐six women were α‐thalassaemia‐1 heterozygotes, 102 women were β‐thalassaemia heterozygotes and one woman had HbE disease. Three α‐thalassaemia carriers and one β‐thalassaemia carrier had a pregnancy affected by anencephaly (odds=1:76). In the 1523 non‐carriers, five pregnancies were affected by spina bifida (odds=1:304). The odds ratio (95 per cent confidence interval) for neural tube defects in the α‐ and β‐thalassaemia carriers was 3.99 (1.07 to 14.94; p<0.05, Chi‐square test). Because of the small number of affected pregnancies studied, the finding needs to be substantiated by a larger series. If the increased risk is genuine, women need to be screened for thalassaemia before conception and the thalassaemia carriers should be given periconceptional folate supplement to reduce the occurrence of neural tube defects. Copyright © 1999 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>10590431</pmid><doi>10.1002/(SICI)1097-0223(199912)19:12<1135::AID-PD720>3.0.CO;2-B</doi><tpages>3</tpages></addata></record> |
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| subjects | anencephaly Asian Continental Ancestry Group - genetics Biological and medical sciences Case-Control Studies Chinese Erythrocyte Indices Female Fetal Diseases - diagnosis Fetal Diseases - epidemiology Fetal Diseases - genetics folate Folic Acid - blood Gynecology. Andrology. Obstetrics Heterozygote Hong Kong - epidemiology Humans Management. Prenatal diagnosis Medical Records Medical sciences neural tube defect Neural Tube Defects - diagnosis Neural Tube Defects - epidemiology Neural Tube Defects - genetics Odds Ratio Pregnancy Pregnancy Outcome Pregnancy. Fetus. Placenta Prenatal Diagnosis Retrospective Studies Risk Factors thalassaemia Thalassemia - epidemiology Thalassemia - genetics |
| title | Risk of neural tube defects in the offspring of thalassaemia carriers in Hong Kong Chinese |
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