Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses
Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregn...
Saved in:
| Published in: | European journal of human genetics : EJHG Vol. 17; no. 7; pp. 897 - 903 |
|---|---|
| Main Authors: | , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
Cham
Springer International Publishing
01.07.2009
Nature Publishing Group |
| Subjects: | |
| ISSN: | 1018-4813, 1476-5438, 1476-5438 |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Abstract | Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregnancy have been used in conjunction with the data on the natural history of chromosomally abnormal fetuses to infer maternal age-specific rates of cytogenetic abnormalities in live-born infants. Starting from the data gathered in 1995–1996 from all Italian cytogenetic laboratories (with 92% compliance to the study), we have compared the frequency of chromosomal abnormalities at amniocentesis in cases with maternal age of ≥35 years (51 758 individuals) and cases with maternal age of <35 years (37 207 cases). The comparison confirmed the age-dependency of aneuploidies, whereas none of the structural abnormalities showed age-related differences. Furthermore, among the mosaic aneuploidies, trisomy 21 and 45,X/46,XX were found with a significantly higher incidence in older women. Chromosomal abnormalities that showed no significant difference between the two groups were summed for the overall national cohort, providing a general estimate of the incidence in the second trimester of pregnancy. The data provide critical background information for prenatal genetic counseling and for the planning of health care policy. |
|---|---|
| AbstractList | Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregnancy have been used in conjunction with the data on the natural history of chromosomally abnormal fetuses to infer maternal age-specific rates of cytogenetic abnormalities in live-born infants. Starting from the data gathered in 1995–1996 from all Italian cytogenetic laboratories (with 92% compliance to the study), we have compared the frequency of chromosomal abnormalities at amniocentesis in cases with maternal age of ≥35 years (51 758 individuals) and cases with maternal age of <35 years (37 207 cases). The comparison confirmed the age-dependency of aneuploidies, whereas none of the structural abnormalities showed age-related differences. Furthermore, among the mosaic aneuploidies, trisomy 21 and 45,X/46,XX were found with a significantly higher incidence in older women. Chromosomal abnormalities that showed no significant difference between the two groups were summed for the overall national cohort, providing a general estimate of the incidence in the second trimester of pregnancy. The data provide critical background information for prenatal genetic counseling and for the planning of health care policy. Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregnancy have been used in conjunction with the data on the natural history of chromosomally abnormal fetuses to infer maternal age-specific rates of cytogenetic abnormalities in live-born infants. Starting from the data gathered in 1995-1996 from all Italian cytogenetic laboratories (with 92% compliance to the study), we have compared the frequency of chromosomal abnormalities at amniocentesis in cases with maternal age of >or=35 years (51,758 individuals) and cases with maternal age of <35 years (37,207 cases). The comparison confirmed the age-dependency of aneuploidies, whereas none of the structural abnormalities showed age-related differences. Furthermore, among the mosaic aneuploidies, trisomy 21 and 45,X/46,XX were found with a significantly higher incidence in older women. Chromosomal abnormalities that showed no significant difference between the two groups were summed for the overall national cohort, providing a general estimate of the incidence in the second trimester of pregnancy. The data provide critical background information for prenatal genetic counseling and for the planning of health care policy.Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregnancy have been used in conjunction with the data on the natural history of chromosomally abnormal fetuses to infer maternal age-specific rates of cytogenetic abnormalities in live-born infants. Starting from the data gathered in 1995-1996 from all Italian cytogenetic laboratories (with 92% compliance to the study), we have compared the frequency of chromosomal abnormalities at amniocentesis in cases with maternal age of >or=35 years (51,758 individuals) and cases with maternal age of <35 years (37,207 cases). The comparison confirmed the age-dependency of aneuploidies, whereas none of the structural abnormalities showed age-related differences. Furthermore, among the mosaic aneuploidies, trisomy 21 and 45,X/46,XX were found with a significantly higher incidence in older women. Chromosomal abnormalities that showed no significant difference between the two groups were summed for the overall national cohort, providing a general estimate of the incidence in the second trimester of pregnancy. The data provide critical background information for prenatal genetic counseling and for the planning of health care policy. Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregnancy have been used in conjunction with the data on the natural history of chromosomally abnormal fetuses to infer maternal age-specific rates of cytogenetic abnormalities in live-born infants. Starting from the data gathered in 1995-1996 from all Italian cytogenetic laboratories (with 92% compliance to the study), we have compared the frequency of chromosomal abnormalities at amniocentesis in cases with maternal age of >or=35 years (51,758 individuals) and cases with maternal age of <35 years (37,207 cases). The comparison confirmed the age-dependency of aneuploidies, whereas none of the structural abnormalities showed age-related differences. Furthermore, among the mosaic aneuploidies, trisomy 21 and 45,X/46,XX were found with a significantly higher incidence in older women. Chromosomal abnormalities that showed no significant difference between the two groups were summed for the overall national cohort, providing a general estimate of the incidence in the second trimester of pregnancy. The data provide critical background information for prenatal genetic counseling and for the planning of health care policy. Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregnancy have been used in conjunction with the data on the natural history of chromosomally abnormal fetuses to infer maternal age-specific rates of cytogenetic abnormalities in live-born infants. Starting from the data gathered in 1995-1996 from all Italian cytogenetic laboratories (with 92% compliance to the study), we have compared the frequency of chromosomal abnormalities at amniocentesis in cases with maternal age of .35 years (51758 individuals) and cases with maternal age of <35 years (37207 cases). The comparison confirmed the age-dependency of aneuploidies, whereas none of the structural abnormalities showed age-related differences. Furthermore, among the mosaic aneuploidies, trisomy 21 and 45,X/46,XX were found with a significantly higher incidence in older women. Chromosomal abnormalities that showed no significant difference between the two groups were summed for the overall national cohort, providing a general estimate of the incidence in the second trimester of pregnancy. The data provide critical background information for prenatal genetic counseling and for the planning of health care policy.European Journal of Human Genetics (2009) 17, 897-903; doi:10.1038/ejhg.2008.265; published online 21 January 2009 |
| Author | Santucci, Sandra Percesepe, Antonio Forabosco, Antonino |
| Author_xml | – sequence: 1 givenname: Antonino surname: Forabosco fullname: Forabosco, Antonino email: antonino.forabosco@unimore.it organization: Department of Medical Genetics, University of Modena – sequence: 2 givenname: Antonio surname: Percesepe fullname: Percesepe, Antonio organization: Department of Medical Genetics, University of Modena – sequence: 3 givenname: Sandra surname: Santucci fullname: Santucci, Sandra organization: Department of Medical Genetics, University of Modena |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21567138$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/19156167$$D View this record in MEDLINE/PubMed |
| BookMark | eNqFksuLFDEQxoOsuA89epUg6K3HvJP2IMjiY2HBi55Durt6JkN30ibdwv73pp1x1EXxlJD61VdfpeoSnYUYAKGnlGwo4eYV7HfbDSPEbJiSD9AFFVpVUnBzVu6EmkoYys_RZc57QkpQ00fonNZUKqr0BfI3ofUdhBZw7HHRrtwWqg4mCOV1xu0uxTHmOLoBuybEVC5-9pBfY4enOC2Dm33JalyGDud56e5wDNiYWknsxuBjW2QgQ36MHvZuyPDkeF6hL-_ffb7-WN1--nBz_fa2aiVlcynd8sb1uuk5M50BJ4wQsmEUFIGO9bTTTlPtJJEgVK9UUzeESqlrViKU8Sv05qA7Lc0I3Vo-ucFOyY8u3dnovP0zEvzObuM3y2qjhNFF4OVRIMWvC-TZjj63MAwuQFyyVZrXjBPyX5CRmotarJae3wP3cUmh_IJlVBshtVqhZ7_7Phn-OasCvDgCLrdu6JMro8snjhVMU24Kxw9cm2LOCXrb-vnHlEq7frCU2HVz7Lo5dt0cWzanZFX3sk4G_sFvDnwuXNhC-tXT3xO-A-y81Yc |
| CitedBy_id | crossref_primary_10_1111_cge_12818 crossref_primary_10_1038_ejhg_2011_246 crossref_primary_10_1038_s41586_020_2371_0 crossref_primary_10_1038_jhg_2014_116 crossref_primary_10_1002_bdra_23083 crossref_primary_10_7759_cureus_68402 crossref_primary_10_1146_annurev_genom_090413_025341 crossref_primary_10_1186_s13039_021_00545_2 crossref_primary_10_2147_IJWH_S283216 crossref_primary_10_1002_ijc_32031 crossref_primary_10_1007_s10815_011_9633_6 crossref_primary_10_3390_biom13061010 crossref_primary_10_1016_j_tjog_2016_01_002 crossref_primary_10_3390_reprodmed5020009 crossref_primary_10_1016_j_bpobgyn_2024_102574 crossref_primary_10_2217_bmm_14_18 crossref_primary_10_1002_pd_6298 crossref_primary_10_1093_hmg_ddab209 crossref_primary_10_1093_humrep_dev192 crossref_primary_10_1007_s00404_011_2052_1 crossref_primary_10_1007_s00412_022_00775_2 crossref_primary_10_1007_s10815_022_02533_w crossref_primary_10_1002_ajmg_a_36035 crossref_primary_10_1097_GCO_0b013e328338c956 crossref_primary_10_1007_s11306_017_1274_z crossref_primary_10_1111_brv_12213 crossref_primary_10_1097_OGX_0000000000000029 crossref_primary_10_1097_GCO_0b013e3283517908 crossref_primary_10_1007_s10815_013_9964_6 crossref_primary_10_1007_s10815_016_0739_8 crossref_primary_10_1016_j_tjog_2013_12_002 crossref_primary_10_3390_jcm3030972 crossref_primary_10_1053_j_semperi_2015_11_001 crossref_primary_10_1097_AOG_0000000000000452 crossref_primary_10_1016_j_ajog_2015_12_025 crossref_primary_10_1159_000477084 crossref_primary_10_1097_AOG_0000000000001029 crossref_primary_10_1016_j_jgg_2020_04_005 crossref_primary_10_1590_S0104_42302012000600016 crossref_primary_10_1002_uog_12513 crossref_primary_10_1186_s13039_016_0279_z crossref_primary_10_1016_j_rbmo_2021_03_003 crossref_primary_10_1002_pd_5146 crossref_primary_10_1101_gr_277787_123 crossref_primary_10_1111_ctr_70207 crossref_primary_10_1186_s12864_025_11851_z crossref_primary_10_1159_000370086 crossref_primary_10_1016_j_ejmg_2019_103829 crossref_primary_10_1016_S0104_4230_12_70275_0 crossref_primary_10_3389_fgene_2025_1599088 crossref_primary_10_1371_journal_pone_0109173 crossref_primary_10_3390_jcm3020537 crossref_primary_10_1016_j_mcp_2019_101422 crossref_primary_10_1016_j_tjog_2013_02_003 crossref_primary_10_1111_1471_0528_18222 crossref_primary_10_1186_s13039_024_00677_1 crossref_primary_10_1111_and_14262 crossref_primary_10_1016_j_ajog_2016_01_003 crossref_primary_10_1016_j_tjog_2024_07_004 crossref_primary_10_1186_s12884_024_06275_8 crossref_primary_10_1016_j_ajog_2021_09_014 crossref_primary_10_1016_j_tjog_2022_11_014 crossref_primary_10_3390_genes14030647 crossref_primary_10_1111_and_14618 crossref_primary_10_1002_pd_5339 crossref_primary_10_3109_14767058_2012_678436 crossref_primary_10_21926_obm_genet_2502296 |
| Cites_doi | 10.1002/ajmg.c.30114 10.1136/jmg.29.2.103 10.1136/jmg.38.10.674 10.1016/j.ejmg.2005.12.004 10.1097/01.AOG.0000127008.14792.14 10.1001/jama.1983.03330390038028 10.1002/pd.1970040704 10.1136/jmg.2007.049312 10.1056/NEJMoa025273 10.1016/S0140-6736(03)13592-1 10.1016/S0168-9525(02)02592-1 10.1038/sj.ejhg.5201653 10.1002/pd.1970120702 10.1002/ajmg.10506 |
| ContentType | Journal Article |
| Copyright | Macmillan Publishers Limited 2009 2009 INIST-CNRS Copyright Nature Publishing Group Jul 2009 Copyright © 2009 Macmillan Publishers Limited 2009 Macmillan Publishers Limited |
| Copyright_xml | – notice: Macmillan Publishers Limited 2009 – notice: 2009 INIST-CNRS – notice: Copyright Nature Publishing Group Jul 2009 – notice: Copyright © 2009 Macmillan Publishers Limited 2009 Macmillan Publishers Limited |
| DBID | AAYXX CITATION IQODW CGR CUY CVF ECM EIF NPM 3V. 7X7 7XB 88A 88E 8AO 8FD 8FE 8FH 8FI 8FJ 8FK ABUWG AFKRA AZQEC BBNVY BENPR BHPHI CCPQU DWQXO FR3 FYUFA GHDGH GNUQQ HCIFZ K9. LK8 M0S M1P M7P P64 PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQGLB PQQKQ PQUKI PRINS RC3 7X8 5PM |
| DOI | 10.1038/ejhg.2008.265 |
| DatabaseName | CrossRef Pascal-Francis Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed ProQuest Central (Corporate) Health & Medical Collection ProQuest Central (purchase pre-March 2016) Biology Database (Alumni Edition) Medical Database (Alumni Edition) ProQuest Pharma Collection Technology Research Database ProQuest SciTech Collection ProQuest Natural Science Collection ProQuest Hospital Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central ProQuest Central UK/Ireland ProQuest Central Essentials - QC Biological Science Collection ProQuest Central Natural Science Collection ProQuest One ProQuest Central Korea Engineering Research Database Proquest Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student SciTech Premium Collection ProQuest Health & Medical Complete (Alumni) Biological Sciences Health & Medical Collection (Alumni Edition) Medical Database Biological Science Database Biotechnology and BioEngineering Abstracts Proquest Central Premium ProQuest One Academic ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Applied & Life Sciences ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China Genetics Abstracts MEDLINE - Academic PubMed Central (Full Participant titles) |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) ProQuest Central Student Technology Research Database ProQuest One Academic Middle East (New) ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College ProQuest One Health & Nursing ProQuest Natural Science Collection ProQuest Pharma Collection ProQuest Central China ProQuest Biology Journals (Alumni Edition) ProQuest Central ProQuest One Applied & Life Sciences ProQuest Health & Medical Research Collection Genetics Abstracts Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Natural Science Collection ProQuest Central Korea Health & Medical Research Collection Biological Science Collection ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest Biological Science Collection ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection ProQuest Hospital Collection (Alumni) Biotechnology and BioEngineering Abstracts ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition Engineering Research Database ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic |
| DatabaseTitleList | MEDLINE - Academic ProQuest Central Student Genetics Abstracts MEDLINE |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine Biology |
| DocumentTitleAlternate | Non-age-dependent chromosomal abnormalities |
| EISSN | 1476-5438 |
| EndPage | 903 |
| ExternalDocumentID | PMC2986487 1750275271 19156167 21567138 10_1038_ejhg_2008_265 |
| Genre | Journal Article |
| GeographicLocations | Italy |
| GeographicLocations_xml | – name: Italy |
| GroupedDBID | --- -Q- 0R~ 29G 2WC 36B 39C 4.4 406 53G 5GY 70F 7X7 88E 8AO 8FE 8FH 8FI 8FJ 8R4 8R5 AACDK AANZL AASML AATNV AAYZH ABAKF ABAWZ ABBRH ABDBE ABDBF ABFSG ABJNI ABLJU ABRTQ ABUWG ABZZP ACAOD ACGFO ACGFS ACKTT ACPRK ACRQY ACSTC ACUHS ACZOJ ADBBV ADFRT AEFQL AEJRE AEMSY AENEX AESKC AEVLU AEXYK AEZWR AFBBN AFDZB AFHIU AFKRA AFSHS AGAYW AGHAI AGQEE AHMBA AHSBF AHWEU AIGIU AILAN AIXLP AJRNO ALFFA ALIPV ALMA_UNASSIGNED_HOLDINGS AMYLF AOIJS ASPBG ATHPR AVWKF AXYYD AYFIA AZFZN B0M BAWUL BBNVY BENPR BHPHI BKKNO BPHCQ BVXVI CAG CCPQU COF CS3 DIK DNIVK DPUIP DU5 E3Z EAD EAP EAS EBC EBD EBLON EBS EE. EHN EIOEI EJD EMB EMK EMOBN EPL EPT ESX F5P FDQFY FEDTE FERAY FIGPU FIZPM FSGXE FYUFA GX1 HCIFZ HMCUK HVGLF HYE HZ~ IWAJR JSO JZLTJ KQ8 LK8 M1P M7P NQJWS O9- OK1 P2P PHGZM PHGZT PJZUB PPXIY PQGLB PQQKQ PROAC PSQYO Q2X Q~Q RIG RNS RNT RNTTT ROL RPM SNX SNYQT SOHCF SOJ SRMVM SV3 SWTZT TAOOD TBHMF TDRGL TR2 TUS UKHRP Y6R ~8M AAYXX AFFHD CITATION IQODW AAYOK CGR CUY CVF ECM EIF NPM RKO 3V. 7XB 88A 8FD 8FK AZQEC DWQXO FR3 GNUQQ K9. P64 PKEHL PQEST PQUKI PRINS RC3 PUEGO 7X8 5PM |
| ID | FETCH-LOGICAL-c512t-dec3baf7bf328d8ea48445b21e60ed2f1d7a717a505e46f66b9b0155792d7a123 |
| IEDL.DBID | M7P |
| ISICitedReferencesCount | 84 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000267141600009&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 1018-4813 1476-5438 |
| IngestDate | Tue Nov 04 01:58:51 EST 2025 Thu Oct 02 15:22:52 EDT 2025 Thu Oct 02 12:42:09 EDT 2025 Fri Oct 03 07:22:01 EDT 2025 Thu Apr 03 07:07:06 EDT 2025 Mon Jul 21 09:11:58 EDT 2025 Sat Nov 29 06:10:25 EST 2025 Tue Nov 18 22:28:30 EST 2025 Mon Jul 21 06:09:49 EDT 2025 |
| IsDoiOpenAccess | false |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 7 |
| Keywords | chromosomal abnormalities incidence non-age dependent chromosomal abnormalities cytogenetic population-based survey cytogenetic epidemiology Chromosomal aberration Amniocentesis Prenatal diagnosis Genetics Population Age Incidence |
| Language | English |
| License | http://www.springer.com/tdm CC BY 4.0 |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c512t-dec3baf7bf328d8ea48445b21e60ed2f1d7a717a505e46f66b9b0155792d7a123 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Feature-1 content type line 23 |
| OpenAccessLink | https://www.nature.com/articles/ejhg2008265.pdf |
| PMID | 19156167 |
| PQID | 217845762 |
| PQPubID | 34182 |
| PageCount | 7 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_2986487 proquest_miscellaneous_67392300 proquest_miscellaneous_20934942 proquest_journals_217845762 pubmed_primary_19156167 pascalfrancis_primary_21567138 crossref_citationtrail_10_1038_ejhg_2008_265 crossref_primary_10_1038_ejhg_2008_265 springer_journals_10_1038_ejhg_2008_265 |
| PublicationCentury | 2000 |
| PublicationDate | 2009-07-01 |
| PublicationDateYYYYMMDD | 2009-07-01 |
| PublicationDate_xml | – month: 07 year: 2009 text: 2009-07-01 day: 01 |
| PublicationDecade | 2000 |
| PublicationPlace | Cham |
| PublicationPlace_xml | – name: Cham – name: Basingstoke – name: England – name: Leiden |
| PublicationTitle | European journal of human genetics : EJHG |
| PublicationTitleAbbrev | Eur J Hum Genet |
| PublicationTitleAlternate | Eur J Hum Genet |
| PublicationYear | 2009 |
| Publisher | Springer International Publishing Nature Publishing Group |
| Publisher_xml | – name: Springer International Publishing – name: Nature Publishing Group |
| References | A Uematsu (BFejhg2008265_CR17) 2002; 111 WP Robinson (BFejhg2008265_CR16) 1995; 56 MA Ferguson-Smith (BFejhg2008265_CR3) 1984; 4 EB Hook (BFejhg2008265_CR4) 1983; 249 ISCN (BFejhg2008265_CR11) 1985; 21 R Gosden (BFejhg2008265_CR15) 2003; 361 cr-split#-BFejhg2008265_CR12.1 EB Hook (BFejhg2008265_CR1) 1977 cr-split#-BFejhg2008265_CR12.2 PA Benn (BFejhg2008265_CR6) 2004; 103 DL Van Dyke (BFejhg2008265_CR18) 1983; 35 P Stankiewicz (BFejhg2008265_CR24) 2002; 18 cr-split#-BFejhg2008265_CR8.1 cr-split#-BFejhg2008265_CR8.2 PA Benn (BFejhg2008265_CR2) 2004 B Dallapiccola (BFejhg2008265_CR7) 2006; 14 P Cerruti Mainardi (BFejhg2008265_CR23) 2006; 49 LG Shaffer (BFejhg2008265_CR14) 2007; 145 NL Shannon (BFejhg2008265_CR22) 2001; 38 R Wapner (BFejhg2008265_CR5) 2003; 349 T Liehr (BFejhg2008265_CR21) 2007; 19 YB Yurov (BFejhg2008265_CR20) 2007; 44 D Warburton (BFejhg2008265_CR13) 1991; 49 PA Jacobs (BFejhg2008265_CR19) 1992; 29 Associazione Italiana Citogenetica Medica (AICM) (BFejhg2008265_CR9) 1995; 8 LY Hsu (BFejhg2008265_CR10) 1992; 12 17390076 - Int J Mol Med. 2007 May;19(5):719-31 6837576 - Am J Hum Genet. 1983 Mar;35(2):301-8 16473053 - Eur J Med Genet. 2006 Sep-Oct;49(5):363-83 6235485 - Prenat Diagn. 1984 Spring;4 Spec No:5-44 14534333 - N Engl J Med. 2003 Oct 9;349(15):1405-13 15172861 - Obstet Gynecol. 2004 Jun;103(6):1255-60 17483303 - J Med Genet. 2007 Aug;44(8):521-5 11584045 - J Med Genet. 2001 Oct;38(10):674-9 1508847 - Prenat Diagn. 1992 Jul;12(7):555-73 11818139 - Trends Genet. 2002 Feb;18(2):74-82 12801753 - Lancet. 2003 Jun 7;361(9373):1975-7 7847381 - Am J Hum Genet. 1995 Feb;56(2):444-51 6220164 - JAMA. 1983 Apr 15;249(15):2034-8 12210339 - Am J Med Genet. 2002 Aug 1;111(2):134-9 4041569 - Birth Defects Orig Artic Ser. 1985;21(1):1-117 1928105 - Am J Hum Genet. 1991 Nov;49(5):995-1013 17290441 - Am J Med Genet C Semin Med Genet. 2007 Feb 15;145C(1):87-98 16724000 - Eur J Hum Genet. 2006 Aug;14(8):911-6 1613759 - J Med Genet. 1992 Feb;29(2):103-8 |
| References_xml | – ident: #cr-split#-BFejhg2008265_CR12.1 – volume: 145 start-page: 87 year: 2007 ident: BFejhg2008265_CR14 publication-title: Am J Med Genet C Semin Med Genet doi: 10.1002/ajmg.c.30114 – volume: 29 start-page: 103 year: 1992 ident: BFejhg2008265_CR19 publication-title: J Med Genet doi: 10.1136/jmg.29.2.103 – volume: 38 start-page: 674 year: 2001 ident: BFejhg2008265_CR22 publication-title: J Med Genet doi: 10.1136/jmg.38.10.674 – start-page: 214 volume-title: Genetic Disorders and the Fetus year: 2004 ident: BFejhg2008265_CR2 – volume: 8 start-page: 1 year: 1995 ident: BFejhg2008265_CR9 publication-title: Analysis – volume: 49 start-page: 363 year: 2006 ident: BFejhg2008265_CR23 publication-title: Eur J Med Genet doi: 10.1016/j.ejmg.2005.12.004 – volume: 103 start-page: 1255 year: 2004 ident: BFejhg2008265_CR6 publication-title: Obstet Gynecol doi: 10.1097/01.AOG.0000127008.14792.14 – volume: 249 start-page: 2034 year: 1983 ident: BFejhg2008265_CR4 publication-title: JAMA doi: 10.1001/jama.1983.03330390038028 – volume: 56 start-page: 444 year: 1995 ident: BFejhg2008265_CR16 publication-title: Am J Hum Genet – ident: #cr-split#-BFejhg2008265_CR8.2 – volume: 4 start-page: 5 issue: Spec No year: 1984 ident: BFejhg2008265_CR3 publication-title: Prenat Diagn doi: 10.1002/pd.1970040704 – volume: 44 start-page: 521 year: 2007 ident: BFejhg2008265_CR20 publication-title: J Med Genet doi: 10.1136/jmg.2007.049312 – volume: 19 start-page: 719 year: 2007 ident: BFejhg2008265_CR21 publication-title: Int J Mol Med – ident: #cr-split#-BFejhg2008265_CR12.2 – volume: 35 start-page: 301 year: 1983 ident: BFejhg2008265_CR18 publication-title: Am J Hum Genet – volume: 349 start-page: 1405 year: 2003 ident: BFejhg2008265_CR5 publication-title: N Engl J Med doi: 10.1056/NEJMoa025273 – volume: 361 start-page: 1975 year: 2003 ident: BFejhg2008265_CR15 publication-title: Lancet doi: 10.1016/S0140-6736(03)13592-1 – start-page: 63 volume-title: Population Cytogenetics: Studies in Humans year: 1977 ident: BFejhg2008265_CR1 – volume: 18 start-page: 74 year: 2002 ident: BFejhg2008265_CR24 publication-title: Trends Genet doi: 10.1016/S0168-9525(02)02592-1 – volume: 14 start-page: 911 year: 2006 ident: BFejhg2008265_CR7 publication-title: Eur J Hum Genet doi: 10.1038/sj.ejhg.5201653 – ident: #cr-split#-BFejhg2008265_CR8.1 – volume: 12 start-page: 555 year: 1992 ident: BFejhg2008265_CR10 publication-title: Prenat Diagn doi: 10.1002/pd.1970120702 – volume: 49 start-page: 995 year: 1991 ident: BFejhg2008265_CR13 publication-title: Am J Hum Genet – volume: 21 start-page: 1 year: 1985 ident: BFejhg2008265_CR11 publication-title: Birth Defects Orig Artic Ser – volume: 111 start-page: 134 year: 2002 ident: BFejhg2008265_CR17 publication-title: Am J Med Genet doi: 10.1002/ajmg.10506 – reference: 17483303 - J Med Genet. 2007 Aug;44(8):521-5 – reference: 6235485 - Prenat Diagn. 1984 Spring;4 Spec No:5-44 – reference: 16724000 - Eur J Hum Genet. 2006 Aug;14(8):911-6 – reference: 14534333 - N Engl J Med. 2003 Oct 9;349(15):1405-13 – reference: 1613759 - J Med Genet. 1992 Feb;29(2):103-8 – reference: 12801753 - Lancet. 2003 Jun 7;361(9373):1975-7 – reference: 17390076 - Int J Mol Med. 2007 May;19(5):719-31 – reference: 15172861 - Obstet Gynecol. 2004 Jun;103(6):1255-60 – reference: 1928105 - Am J Hum Genet. 1991 Nov;49(5):995-1013 – reference: 6220164 - JAMA. 1983 Apr 15;249(15):2034-8 – reference: 17290441 - Am J Med Genet C Semin Med Genet. 2007 Feb 15;145C(1):87-98 – reference: 11584045 - J Med Genet. 2001 Oct;38(10):674-9 – reference: 16473053 - Eur J Med Genet. 2006 Sep-Oct;49(5):363-83 – reference: 7847381 - Am J Hum Genet. 1995 Feb;56(2):444-51 – reference: 1508847 - Prenat Diagn. 1992 Jul;12(7):555-73 – reference: 12210339 - Am J Med Genet. 2002 Aug 1;111(2):134-9 – reference: 11818139 - Trends Genet. 2002 Feb;18(2):74-82 – reference: 6837576 - Am J Hum Genet. 1983 Mar;35(2):301-8 – reference: 4041569 - Birth Defects Orig Artic Ser. 1985;21(1):1-117 |
| SSID | ssj0014771 |
| Score | 2.2567298 |
| Snippet | Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the... |
| SourceID | pubmedcentral proquest pubmed pascalfrancis crossref springer |
| SourceType | Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 897 |
| SubjectTerms | Adult Age Age Factors Amniocentesis Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Chromosome Aberrations - statistics & numerical data Chromosome Disorders - diagnosis Chromosome Disorders - epidemiology Chromosome Disorders - genetics Chromosomes Chromosomes, Human, Pair 21 - genetics Chromosomes, Human, X - genetics Cohort Studies Cytogenetics Estimates Female Fetus Fetuses Fundamental and applied biological sciences. Psychology Gene Expression General aspects. Genetic counseling Genetic counseling Genetics Genetics of eukaryotes. Biological and molecular evolution Health care policy Health risk assessment Human Genetics Humans Incidence Infants Laboratories Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Natural history Neonates Newborn babies Population Population studies Pregnancy Prenatal diagnosis Studies Trisomy Womens health |
| Title | Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses |
| URI | https://link.springer.com/article/10.1038/ejhg.2008.265 https://www.ncbi.nlm.nih.gov/pubmed/19156167 https://www.proquest.com/docview/217845762 https://www.proquest.com/docview/20934942 https://www.proquest.com/docview/67392300 https://pubmed.ncbi.nlm.nih.gov/PMC2986487 |
| Volume | 17 |
| WOSCitedRecordID | wos000267141600009&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVPQU databaseName: Biological Science Database customDbUrl: eissn: 1476-5438 dateEnd: 20171231 omitProxy: false ssIdentifier: ssj0014771 issn: 1018-4813 databaseCode: M7P dateStart: 20000101 isFulltext: true titleUrlDefault: http://search.proquest.com/biologicalscijournals providerName: ProQuest – providerCode: PRVPQU databaseName: Health & Medical Collection customDbUrl: eissn: 1476-5438 dateEnd: 20171231 omitProxy: false ssIdentifier: ssj0014771 issn: 1018-4813 databaseCode: 7X7 dateStart: 20000101 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 1476-5438 dateEnd: 20171231 omitProxy: false ssIdentifier: ssj0014771 issn: 1018-4813 databaseCode: BENPR dateStart: 20000101 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Nb9QwEB3RFhAS4qNQCIXFBwQXrDq213a4IECtuLBaIZD2FjmJwy5qk22zReLfM7azKQulFy65eJLYmfHMODN6D-CFxihdZ7qk0nFNpbYpLZjJqCgKUXObVk5UgWxCTyZmNsumfW9O17dVrn1icNRVW_p_5AeYOhuJyTF_uzylnjTKF1d7Bo0t2PEgCSJ07k2HIoLU8bzFUv_PLBU9xCYT5sB9n3-LjZTch5XfQtLtpe3w69SR1uKyvPPv9sk_aqghNB3d_c9F3YM7fU5K3kUjug_XXLMLNyJL5c9duPmpr78_gAW6k8hCStqaNG1D0R3RNZHuipRz393XtSf4OFs0Ph8-DpCtb4gly4ErjPrYWZEAbUvahhiTqTGxJ82i9at1nesewtejwy8fPtKerIGWmDOs8FWlKGyti1pwUxlnpZFyXPDUKeYqXqeVtnh0tJhxOalqpYqs8PmazjiOYPzcg22ctnsMhJXoeUTNlPP5jWRWV3g717VLxVgZmcDrtb7yskcy94Qax3moqAuTe_VGgk1UbwIvB_FlhPD4l-BoQ_mDNNqWwsO8SWB_rca83-pdPugwgefDKO5RX3ixjWvPUYRlHgXoCgmlMU8VjCXwKNrWxUwzfHmqdAJ6w-oGAY8PvjnSLOYBJ5x76H2Dd75a2-fFrC_9AE-uXN8-3IqlNN-r_BS2V2fn7hlcL3-sFt3ZCLb0TIerGcHO-8PJ9PMobMdfdS08CA |
| linkProvider | ProQuest |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwEB5V5SkhHuW1FFofeFywGtvZ2EFCCAFVq7YrDkXaW3ASh13UJkuzBfVH8R-ZiZOUhdJbD5w9SRxn_M1nezIfwFONUbqIdcZDJzUPtRU8DUzMVZqqQlqRO5U3YhN6NDLjcfxxCX52_8JQWmWHiQ1Q51VGe-QbSJ1NiORYvpl94yQaRYernYKG94odd_IDV2z16-33-HmfSbn5Yf_dFm9FBXiGsW3Oc5ep1BY6LZQ0uXE2NGE4TKVwUeByWYhcW1ziWGQGLoyKKErjlHiFjiW2CKpzgIh_CWFcUwaZHvfrOxFqv74LBO3RCdWW9AyU2XBfJ1984qakMPZbCLwxszV-jcLLaJzFc_9O1_zjzLYJhZu3_rNBvA03W87N3vpJcgeWXLkCV7wK58kKXN1r8wvuwhTh0qussqpgZVVyhFveCQXPWTah7MW6OsTb2bQkvn_QlKR9xSyb9VponLhBzprSvawqmTFxNGT2sJxWNLqudvU9-HQhr3wflrHb7iGwIENkVUUQOeJvYWB1jpdLXTihhpEJB_Cy848kayu1k2DIQdJkDCiTkDt5AVF0pwE8781nvkTJvwzXFpytt0baF2mhzABWO7dJWiirk95nBrDetyIG0cGSLV11jCZBTFWOzrGINPJwFQQDeOB9-bSnMT5cRHoAesHLewOqf77YUk4nTR10SdICBq980c2H016fOQCPzn2_dbi2tb-3m-xuj3ZW4bo_NqS87MewPD86dk_gcvZ9Pq2P1pppz-DzRU-RX45WlaY |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Nb9QwEB1VBSokxEeBEgqtD3xcsNaxs7GDhBCirKgKqz2A1FtwEpvdqk2WZgvqT-PfMY6TlIXSWw-cPdl1nPHMc2byHsATiVnaJjKnkeGSRlKHNGMqoSLLhOU6LIwoGrEJOR6r_f1ksgI_u29hXFtlFxObQF1UuXtHPkDorCIEx3xg266Iyc7o9fwbdQJSrtDaqWl4D9kzpz_w9Fa_2t3BR_2U89G7T2_f01ZggOaY5xa0MLnItJWZFVwVyuhIRdEw46GJmSm4DQup8bijESWYKLZxnCWZwxgy4TgSOs4DjP5XpOMsb7oGJ30BI5L-rMdC974uFC29JxNqYA6mX30TJ3cp7bd0eGOua3wy1ktqnId5_27d_KN-26TF0a3_eEFvw80Wi5M3fvPcgRVTrsM1r855ug5rH9u-g7swwzDq1VdJZUlZlRTDMO0EhBckn7quxro6wp_TWenOAYcNVe1Losm810ijDjMUpKH0JVVJlEriIdFH5axyK21qU9-Dz5dyy_dhFadtHgBhOUZcYVlsHK6LmJYFXs6lNaEYxioK4EXnK2neMrg7IZHDtOkkECp1ruWFRdG1AnjWm889dcm_DLeWHK-3RjgYy1CoADY7F0rbEFenvf8EsN2PYmxyBSddmuoETVji2I8usIgl4nPBWAAb3q_PZprgn4exDEAueXxv4HjRl0fK2bThR-dOckDhlc-7vXE263MX4OGF97cNa7gz0g-7471NuO6ria5d-xGsLo5PzGO4mn9fzOrjrSYCEPhy2TvkFz5xnnQ |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Incidence+of+non-age-dependent+chromosomal+abnormalities%3A+a+population-based+study+on+88965+amniocenteses&rft.jtitle=European+journal+of+human+genetics+%3A+EJHG&rft.au=Forabosco%2C+Antonino&rft.au=Percesepe%2C+Antonio&rft.au=Santucci%2C+Sandra&rft.date=2009-07-01&rft.pub=Springer+International+Publishing&rft.issn=1018-4813&rft.eissn=1476-5438&rft.volume=17&rft.issue=7&rft.spage=897&rft.epage=903&rft_id=info:doi/10.1038%2Fejhg.2008.265&rft.externalDocID=10_1038_ejhg_2008_265 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1018-4813&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1018-4813&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1018-4813&client=summon |