The role of ultrasonographic markers for trisomy 21 in women with positive serum biochemistry
Objective To assess the value of particular markers detected by second trimester ultrasound examination among those women whose fetuses were shown to be at increased risk of Down's syndrome on the basis of biochemical screening. Design A retrospective study of 459 pregnancies. Setting Fetal Med...
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| Veröffentlicht in: | BJOG : an international journal of obstetrics and gynaecology 1998-01, Vol.105 (1), p.63-67 |
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| creator | Verdin, Stuart M. Economides, Demetrios L. |
| description | Objective
To assess the value of particular markers detected by second trimester ultrasound examination among those women whose fetuses were shown to be at increased risk of Down's syndrome on the basis of biochemical screening.
Design
A retrospective study of 459 pregnancies.
Setting
Fetal Medicine Unit, Royal Free Hospital.
Participants
Four hundred and fifty‐nine regnant women, including four twin pregnancies, registered at the Royal Free Hospital, who were considered screen positive (risk > 1: 250) based on the results of mid‐trimester biochemical markers (maternal serum free β human chorionic gonadotrophin and α fetoprotein).
Main outcome measures
The ultrasound markers that were examined included structural defects, shortened femur length, echogenic bowel, dilation of the renal pelvis and choroid plexus cysts. The likelihood ratios for trisomy 21 for each of these markers were calculated.
Results
Of the 463 fetuses which were screen positive, 449 (97%) had a normal karyotype detected by amniocentesis (n= 344) or postnatal follow up (n = 105). Fourteen fetuses had an abnormal karyotype including 11 (2.4%) with trisomy 21. Ultrasound markers were found in 9/11 (81.8%) fetuses with trisomy 21, compared with 44/449 (9.8%) with a normal karyotype. Detection of one or more ultrasonographic markers in a screen positive pregnancy increased the risk of trisomy 21 by a likelihood ratio of 8.4, and the absence of such markers decreased the risk by a likelihood ratio of 0.2. The risk was considerably increased when the presence of two or markers were detected (likelihood ratio 41). In trisomy 21 fetuses the two most commonly detected markers, shortened femur and dilation of the renal pelvis, had llkelihood ratios of 49.3 and 20.5, respectively. Choroid plexus cysts were detected in 27 of the normal karyotypic fetuses compared with none of those with trisomy 21.
Conclusion
The presence or absence of abnormal ultrasonographic markers can significantly change the risk of Down's syndrome among pregnant women already found to have abnormal serum biochemistry. This data may be useful in counselling such women. |
| doi_str_mv | 10.1111/j.1471-0528.1998.tb09352.x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_79667328</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>79667328</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4493-6757af307ce1722d695b98c739c0ccc47539c8194c25890b8e4a410c9d6d65693</originalsourceid><addsrcrecordid>eNqVkMtKxDAUhoMo3h9BCCLuWnNr0gguVLwizGZcSkgzqZOxnYxJq87bm3HK7M3i5MD_n9sHwClGOU7vYpZjJnCGClLmWMoy7yokaUHyny2wv5G2_3KUIUrKPXAQ4wwhzAmiu2BXMkYwZ_vgbTy1MPjGQl_DvumCjn7u34NeTJ2BrQ4fNkRY-wC74KJvl5Bg6Obw27c2RddN4cJH17kvC6MNfQsr583Uti52YXkEdmrdRHs8_Ifg9f5ufPuYvYwenm6vXzLDmKQZF4XQNUXCWCwImXBZVLI0gkqDjDFMFCkrsWSGFKVEVWmZZhgZOeETXnBJD8H5uu8i-M_exk6l-cY2jZ5b30clJOciYUjGy7XRBB9jsLVaBJeuXCqM1IqtmqkVQLUCqFZs1cBW_aTik2FKX7V2sikdYCb9bNB1NLqpg54bFzc2ktpLIZLtam37do1d_mMBdfM84pT-AnBolhA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>79667328</pqid></control><display><type>article</type><title>The role of ultrasonographic markers for trisomy 21 in women with positive serum biochemistry</title><source>MEDLINE</source><source>Wiley Online Library All Journals</source><source>Alma/SFX Local Collection</source><creator>Verdin, Stuart M. ; Economides, Demetrios L.</creator><creatorcontrib>Verdin, Stuart M. ; Economides, Demetrios L.</creatorcontrib><description>Objective
To assess the value of particular markers detected by second trimester ultrasound examination among those women whose fetuses were shown to be at increased risk of Down's syndrome on the basis of biochemical screening.
Design
A retrospective study of 459 pregnancies.
Setting
Fetal Medicine Unit, Royal Free Hospital.
Participants
Four hundred and fifty‐nine regnant women, including four twin pregnancies, registered at the Royal Free Hospital, who were considered screen positive (risk > 1: 250) based on the results of mid‐trimester biochemical markers (maternal serum free β human chorionic gonadotrophin and α fetoprotein).
Main outcome measures
The ultrasound markers that were examined included structural defects, shortened femur length, echogenic bowel, dilation of the renal pelvis and choroid plexus cysts. The likelihood ratios for trisomy 21 for each of these markers were calculated.
Results
Of the 463 fetuses which were screen positive, 449 (97%) had a normal karyotype detected by amniocentesis (n= 344) or postnatal follow up (n = 105). Fourteen fetuses had an abnormal karyotype including 11 (2.4%) with trisomy 21. Ultrasound markers were found in 9/11 (81.8%) fetuses with trisomy 21, compared with 44/449 (9.8%) with a normal karyotype. Detection of one or more ultrasonographic markers in a screen positive pregnancy increased the risk of trisomy 21 by a likelihood ratio of 8.4, and the absence of such markers decreased the risk by a likelihood ratio of 0.2. The risk was considerably increased when the presence of two or markers were detected (likelihood ratio 41). In trisomy 21 fetuses the two most commonly detected markers, shortened femur and dilation of the renal pelvis, had llkelihood ratios of 49.3 and 20.5, respectively. Choroid plexus cysts were detected in 27 of the normal karyotypic fetuses compared with none of those with trisomy 21.
Conclusion
The presence or absence of abnormal ultrasonographic markers can significantly change the risk of Down's syndrome among pregnant women already found to have abnormal serum biochemistry. This data may be useful in counselling such women.</description><identifier>ISSN: 1470-0328</identifier><identifier>ISSN: 0306-5456</identifier><identifier>EISSN: 1471-0528</identifier><identifier>EISSN: 1365-215X</identifier><identifier>DOI: 10.1111/j.1471-0528.1998.tb09352.x</identifier><identifier>PMID: 9442164</identifier><identifier>CODEN: BJOGAS</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Biological and medical sciences ; Chromosome Aberrations ; Dilatation, Pathologic ; Down Syndrome - diagnostic imaging ; Female ; Femur - diagnostic imaging ; Femur - embryology ; Gynecology. Andrology. Obstetrics ; Humans ; Kidney Pelvis - diagnostic imaging ; Kidney Pelvis - embryology ; Management. Prenatal diagnosis ; Medical sciences ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy. Fetus. Placenta ; Retrospective Studies ; Risk Factors ; Ultrasonography, Prenatal</subject><ispartof>BJOG : an international journal of obstetrics and gynaecology, 1998-01, Vol.105 (1), p.63-67</ispartof><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4493-6757af307ce1722d695b98c739c0ccc47539c8194c25890b8e4a410c9d6d65693</citedby><cites>FETCH-LOGICAL-c4493-6757af307ce1722d695b98c739c0ccc47539c8194c25890b8e4a410c9d6d65693</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1471-0528.1998.tb09352.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1471-0528.1998.tb09352.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,4023,27922,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2111977$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9442164$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Verdin, Stuart M.</creatorcontrib><creatorcontrib>Economides, Demetrios L.</creatorcontrib><title>The role of ultrasonographic markers for trisomy 21 in women with positive serum biochemistry</title><title>BJOG : an international journal of obstetrics and gynaecology</title><addtitle>Br J Obstet Gynaecol</addtitle><description>Objective
To assess the value of particular markers detected by second trimester ultrasound examination among those women whose fetuses were shown to be at increased risk of Down's syndrome on the basis of biochemical screening.
Design
A retrospective study of 459 pregnancies.
Setting
Fetal Medicine Unit, Royal Free Hospital.
Participants
Four hundred and fifty‐nine regnant women, including four twin pregnancies, registered at the Royal Free Hospital, who were considered screen positive (risk > 1: 250) based on the results of mid‐trimester biochemical markers (maternal serum free β human chorionic gonadotrophin and α fetoprotein).
Main outcome measures
The ultrasound markers that were examined included structural defects, shortened femur length, echogenic bowel, dilation of the renal pelvis and choroid plexus cysts. The likelihood ratios for trisomy 21 for each of these markers were calculated.
Results
Of the 463 fetuses which were screen positive, 449 (97%) had a normal karyotype detected by amniocentesis (n= 344) or postnatal follow up (n = 105). Fourteen fetuses had an abnormal karyotype including 11 (2.4%) with trisomy 21. Ultrasound markers were found in 9/11 (81.8%) fetuses with trisomy 21, compared with 44/449 (9.8%) with a normal karyotype. Detection of one or more ultrasonographic markers in a screen positive pregnancy increased the risk of trisomy 21 by a likelihood ratio of 8.4, and the absence of such markers decreased the risk by a likelihood ratio of 0.2. The risk was considerably increased when the presence of two or markers were detected (likelihood ratio 41). In trisomy 21 fetuses the two most commonly detected markers, shortened femur and dilation of the renal pelvis, had llkelihood ratios of 49.3 and 20.5, respectively. Choroid plexus cysts were detected in 27 of the normal karyotypic fetuses compared with none of those with trisomy 21.
Conclusion
The presence or absence of abnormal ultrasonographic markers can significantly change the risk of Down's syndrome among pregnant women already found to have abnormal serum biochemistry. This data may be useful in counselling such women.</description><subject>Biological and medical sciences</subject><subject>Chromosome Aberrations</subject><subject>Dilatation, Pathologic</subject><subject>Down Syndrome - diagnostic imaging</subject><subject>Female</subject><subject>Femur - diagnostic imaging</subject><subject>Femur - embryology</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Kidney Pelvis - diagnostic imaging</subject><subject>Kidney Pelvis - embryology</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Pregnancy</subject><subject>Pregnancy Trimester, Second</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Retrospective Studies</subject><subject>Risk Factors</subject><subject>Ultrasonography, Prenatal</subject><issn>1470-0328</issn><issn>0306-5456</issn><issn>1471-0528</issn><issn>1365-215X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkMtKxDAUhoMo3h9BCCLuWnNr0gguVLwizGZcSkgzqZOxnYxJq87bm3HK7M3i5MD_n9sHwClGOU7vYpZjJnCGClLmWMoy7yokaUHyny2wv5G2_3KUIUrKPXAQ4wwhzAmiu2BXMkYwZ_vgbTy1MPjGQl_DvumCjn7u34NeTJ2BrQ4fNkRY-wC74KJvl5Bg6Obw27c2RddN4cJH17kvC6MNfQsr583Uti52YXkEdmrdRHs8_Ifg9f5ufPuYvYwenm6vXzLDmKQZF4XQNUXCWCwImXBZVLI0gkqDjDFMFCkrsWSGFKVEVWmZZhgZOeETXnBJD8H5uu8i-M_exk6l-cY2jZ5b30clJOciYUjGy7XRBB9jsLVaBJeuXCqM1IqtmqkVQLUCqFZs1cBW_aTik2FKX7V2sikdYCb9bNB1NLqpg54bFzc2ktpLIZLtam37do1d_mMBdfM84pT-AnBolhA</recordid><startdate>199801</startdate><enddate>199801</enddate><creator>Verdin, Stuart M.</creator><creator>Economides, Demetrios L.</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</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>7X8</scope></search><sort><creationdate>199801</creationdate><title>The role of ultrasonographic markers for trisomy 21 in women with positive serum biochemistry</title><author>Verdin, Stuart M. ; Economides, Demetrios L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4493-6757af307ce1722d695b98c739c0ccc47539c8194c25890b8e4a410c9d6d65693</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Aberrations</topic><topic>Dilatation, Pathologic</topic><topic>Down Syndrome - diagnostic imaging</topic><topic>Female</topic><topic>Femur - diagnostic imaging</topic><topic>Femur - embryology</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Kidney Pelvis - diagnostic imaging</topic><topic>Kidney Pelvis - embryology</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Pregnancy</topic><topic>Pregnancy Trimester, Second</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Retrospective Studies</topic><topic>Risk Factors</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Verdin, Stuart M.</creatorcontrib><creatorcontrib>Economides, Demetrios L.</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>MEDLINE - Academic</collection><jtitle>BJOG : an international journal of obstetrics and gynaecology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Verdin, Stuart M.</au><au>Economides, Demetrios L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The role of ultrasonographic markers for trisomy 21 in women with positive serum biochemistry</atitle><jtitle>BJOG : an international journal of obstetrics and gynaecology</jtitle><addtitle>Br J Obstet Gynaecol</addtitle><date>1998-01</date><risdate>1998</risdate><volume>105</volume><issue>1</issue><spage>63</spage><epage>67</epage><pages>63-67</pages><issn>1470-0328</issn><issn>0306-5456</issn><eissn>1471-0528</eissn><eissn>1365-215X</eissn><coden>BJOGAS</coden><abstract>Objective
To assess the value of particular markers detected by second trimester ultrasound examination among those women whose fetuses were shown to be at increased risk of Down's syndrome on the basis of biochemical screening.
Design
A retrospective study of 459 pregnancies.
Setting
Fetal Medicine Unit, Royal Free Hospital.
Participants
Four hundred and fifty‐nine regnant women, including four twin pregnancies, registered at the Royal Free Hospital, who were considered screen positive (risk > 1: 250) based on the results of mid‐trimester biochemical markers (maternal serum free β human chorionic gonadotrophin and α fetoprotein).
Main outcome measures
The ultrasound markers that were examined included structural defects, shortened femur length, echogenic bowel, dilation of the renal pelvis and choroid plexus cysts. The likelihood ratios for trisomy 21 for each of these markers were calculated.
Results
Of the 463 fetuses which were screen positive, 449 (97%) had a normal karyotype detected by amniocentesis (n= 344) or postnatal follow up (n = 105). Fourteen fetuses had an abnormal karyotype including 11 (2.4%) with trisomy 21. Ultrasound markers were found in 9/11 (81.8%) fetuses with trisomy 21, compared with 44/449 (9.8%) with a normal karyotype. Detection of one or more ultrasonographic markers in a screen positive pregnancy increased the risk of trisomy 21 by a likelihood ratio of 8.4, and the absence of such markers decreased the risk by a likelihood ratio of 0.2. The risk was considerably increased when the presence of two or markers were detected (likelihood ratio 41). In trisomy 21 fetuses the two most commonly detected markers, shortened femur and dilation of the renal pelvis, had llkelihood ratios of 49.3 and 20.5, respectively. Choroid plexus cysts were detected in 27 of the normal karyotypic fetuses compared with none of those with trisomy 21.
Conclusion
The presence or absence of abnormal ultrasonographic markers can significantly change the risk of Down's syndrome among pregnant women already found to have abnormal serum biochemistry. This data may be useful in counselling such women.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>9442164</pmid><doi>10.1111/j.1471-0528.1998.tb09352.x</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 1470-0328 |
| ispartof | BJOG : an international journal of obstetrics and gynaecology, 1998-01, Vol.105 (1), p.63-67 |
| issn | 1470-0328 0306-5456 1471-0528 1365-215X |
| language | eng |
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| subjects | Biological and medical sciences Chromosome Aberrations Dilatation, Pathologic Down Syndrome - diagnostic imaging Female Femur - diagnostic imaging Femur - embryology Gynecology. Andrology. Obstetrics Humans Kidney Pelvis - diagnostic imaging Kidney Pelvis - embryology Management. Prenatal diagnosis Medical sciences Pregnancy Pregnancy Trimester, Second Pregnancy. Fetus. Placenta Retrospective Studies Risk Factors Ultrasonography, Prenatal |
| title | The role of ultrasonographic markers for trisomy 21 in women with positive serum biochemistry |
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