Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies

Transabdominal chorionic villus sampling (TA‐CVS) was attempted in 328 high‐risk pregnancies at 6–7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent ofcases at the first needle insertion and in 100 per c...

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Veröffentlicht in:Prenatal diagnosis 1992-10, Vol.12 (10), p.789-799
Hauptverfasser: Brambati, Bruno, Simoni, Giuseppe, Travi, Maurizio, Danesino, Cesare, Tului, Lucla, Privitera, Orsola, Stioui, Sabine, Tedeschi, Silvana, Russo, Silvia, Primignani, Paola
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container_end_page 799
container_issue 10
container_start_page 789
container_title Prenatal diagnosis
container_volume 12
creator Brambati, Bruno
Simoni, Giuseppe
Travi, Maurizio
Danesino, Cesare
Tului, Lucla
Privitera, Orsola
Stioui, Sabine
Tedeschi, Silvana
Russo, Silvia
Primignani, Paola
description Transabdominal chorionic villus sampling (TA‐CVS) was attempted in 328 high‐risk pregnancies at 6–7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent ofcases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. Unclear visualization of the placental limits and poor control of the needle path are thought to be the main reasons for the vascular disruption of the chorionic plate, and thereby hypoxic embryo tissue damage. A better selection of cases, together with high‐resolution vaginal ultrasound visualization, and analytical techniques requiring a minimal amount of tissue should avoid any teratogenic effect of early CVS.
doi_str_mv 10.1002/pd.1970121004
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Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent ofcases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. Unclear visualization of the placental limits and poor control of the needle path are thought to be the main reasons for the vascular disruption of the chorionic plate, and thereby hypoxic embryo tissue damage. A better selection of cases, together with high‐resolution vaginal ultrasound visualization, and analytical techniques requiring a minimal amount of tissue should avoid any teratogenic effect of early CVS.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1970121004</identifier><identifier>PMID: 1475247</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley &amp; Sons, Ltd</publisher><subject>Adult ; Biological and medical sciences ; Chorionic Villi - enzymology ; Chorionic Villi Sampling ; DNA - analysis ; Efficiency ; Evaluation Studies as Topic ; Female ; Fetal loss ; Gestational Age ; Gynecology. Andrology. Obstetrics ; Humans ; Karyotyping ; Management. Prenatal diagnosis ; Medical sciences ; Placenta - diagnostic imaging ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy. Fetus. 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Diagn</addtitle><description>Transabdominal chorionic villus sampling (TA‐CVS) was attempted in 328 high‐risk pregnancies at 6–7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent ofcases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. 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Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Placenta - diagnostic imaging</subject><subject>Pregnancy</subject><subject>Pregnancy Trimester, First</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Reliability</subject><subject>Risk Factors</subject><subject>Teratogenic effect</subject><subject>Ultrasonography</subject><subject>Very early TA-CVS</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1PGzEQhi3UigbKkSOSDz12wfZ-eLe3ikJASr-kVjlaY-84deN4V_ZSmr_Ar8YoEaiXnkYz7zPj1y8hp5ydc8bExdif804yLnJXHZAZZ50smBDlKzJjWSnKtuZvyFFKvzPeik4ekkNeyVpUckYe5hhwcob2DlZhSC5RvaXm1xDdEPL4j_P-LtEEm9G7sKIa7RCRtnSFaYIpQ-DpPeI6faBX1jrjMJjtexrRO9DOuyk3EHoaXVonOgRacknNkM_hhD0dI64ChLyW3pLXFnzCk309Jj-vr35c3hSLr_Pby4-LwlSsrAohegttqy3XHLRgbddILVspTdegBNOwFmre2RpMx0Vtq7qRQqJsaqs19qY8JsXurolDShGtGqPbQNwqztRTpGrs1UukmT_b8eOd3mD_Qu8yzPq7vQ7JgLfx6TvpGasqlh3yjMkddu88bv__pvr26R8De8MuTfj3eRPiWjWylLVafpmrbim-L2-az2pRPgLWFZ8e</recordid><startdate>199210</startdate><enddate>199210</enddate><creator>Brambati, Bruno</creator><creator>Simoni, Giuseppe</creator><creator>Travi, Maurizio</creator><creator>Danesino, Cesare</creator><creator>Tului, Lucla</creator><creator>Privitera, Orsola</creator><creator>Stioui, Sabine</creator><creator>Tedeschi, Silvana</creator><creator>Russo, Silvia</creator><creator>Primignani, Paola</creator><general>John Wiley &amp; 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></search><sort><creationdate>199210</creationdate><title>Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies</title><author>Brambati, Bruno ; Simoni, Giuseppe ; Travi, Maurizio ; Danesino, Cesare ; Tului, Lucla ; Privitera, Orsola ; Stioui, Sabine ; Tedeschi, Silvana ; Russo, Silvia ; Primignani, Paola</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4034-22dfa88bf1b1ab208967b7877c96e7ac608a519f5ac9125f456727e765fbbedc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Chorionic Villi - enzymology</topic><topic>Chorionic Villi Sampling</topic><topic>DNA - analysis</topic><topic>Efficiency</topic><topic>Evaluation Studies as Topic</topic><topic>Female</topic><topic>Fetal loss</topic><topic>Gestational Age</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Placenta - diagnostic imaging</topic><topic>Pregnancy</topic><topic>Pregnancy Trimester, First</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Reliability</topic><topic>Risk Factors</topic><topic>Teratogenic effect</topic><topic>Ultrasonography</topic><topic>Very early TA-CVS</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brambati, Bruno</creatorcontrib><creatorcontrib>Simoni, Giuseppe</creatorcontrib><creatorcontrib>Travi, Maurizio</creatorcontrib><creatorcontrib>Danesino, Cesare</creatorcontrib><creatorcontrib>Tului, Lucla</creatorcontrib><creatorcontrib>Privitera, Orsola</creatorcontrib><creatorcontrib>Stioui, Sabine</creatorcontrib><creatorcontrib>Tedeschi, Silvana</creatorcontrib><creatorcontrib>Russo, Silvia</creatorcontrib><creatorcontrib>Primignani, Paola</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><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brambati, Bruno</au><au>Simoni, Giuseppe</au><au>Travi, Maurizio</au><au>Danesino, Cesare</au><au>Tului, Lucla</au><au>Privitera, Orsola</au><au>Stioui, Sabine</au><au>Tedeschi, Silvana</au><au>Russo, Silvia</au><au>Primignani, Paola</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1992-10</date><risdate>1992</risdate><volume>12</volume><issue>10</issue><spage>789</spage><epage>799</epage><pages>789-799</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Transabdominal chorionic villus sampling (TA‐CVS) was attempted in 328 high‐risk pregnancies at 6–7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent ofcases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. Unclear visualization of the placental limits and poor control of the needle path are thought to be the main reasons for the vascular disruption of the chorionic plate, and thereby hypoxic embryo tissue damage. A better selection of cases, together with high‐resolution vaginal ultrasound visualization, and analytical techniques requiring a minimal amount of tissue should avoid any teratogenic effect of early CVS.</abstract><cop>Chichester, UK</cop><pub>John Wiley &amp; Sons, Ltd</pub><pmid>1475247</pmid><doi>10.1002/pd.1970121004</doi><tpages>11</tpages></addata></record>
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language eng
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source MEDLINE; Wiley Journals
subjects Adult
Biological and medical sciences
Chorionic Villi - enzymology
Chorionic Villi Sampling
DNA - analysis
Efficiency
Evaluation Studies as Topic
Female
Fetal loss
Gestational Age
Gynecology. Andrology. Obstetrics
Humans
Karyotyping
Management. Prenatal diagnosis
Medical sciences
Placenta - diagnostic imaging
Pregnancy
Pregnancy Trimester, First
Pregnancy. Fetus. Placenta
Reliability
Risk Factors
Teratogenic effect
Ultrasonography
Very early TA-CVS
title Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies
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