Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study
ABSTRACT Objective To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies. Method Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasoun...
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| Veröffentlicht in: | Prenatal diagnosis 2025-01, Vol.45 (1), p.3-14 |
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| creator | Arduç, Arda Dijk, Sandra J. B. Cate, Feikje J. Doesburg, Margriet H. M. Linskens, Ingeborg H. Leeuwen, Elisabeth Maarle, Merel C. Pajkrt, Eva |
| description | ABSTRACT
Objective
To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.
Method
Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.
Results
The prenatal group included 199 pregnancies: 64 transverse and 19 longitudinal reduction defects, 103 polydactylies, and 13 cases with syndactyly. The majority of cases with longitudinal reduction defects (n = 10, 52.6%), polydactyly (n = 62, 60.2%), and syndactyly (n = 10, 76.9%) were non‐isolated, as opposed to transverse reduction defects, which were generally isolated (n = 41, 64.1%). The postnatal cohort included 362 children with upper limb anomalies with 49 transverse and 22 longitudinal reduction defects, 226 polydactylies, and 65 syndactylies. Chromosomal or monogenic abnormalities were identified in 76/199 (38.2%) cases of the prenatal cohort and in 31/362 (8.6%) cases of the postnatal cohort.
Conclusion
Prenatal identification of minor defects of the digits is a challenge, with more postnatal than prenatal cases. The majority of cases with isolated anomalies in both groups had no underlying chromosomal or monogenic cause, nor were they associated with a syndrome, as compared to the non‐isolated cases. Conducting structural anomaly scans and genetic counseling are crucial to assess the risk of genetic abnormalities. |
| doi_str_mv | 10.1002/pd.6714 |
| format | Article |
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Objective
To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.
Method
Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.
Results
The prenatal group included 199 pregnancies: 64 transverse and 19 longitudinal reduction defects, 103 polydactylies, and 13 cases with syndactyly. The majority of cases with longitudinal reduction defects (n = 10, 52.6%), polydactyly (n = 62, 60.2%), and syndactyly (n = 10, 76.9%) were non‐isolated, as opposed to transverse reduction defects, which were generally isolated (n = 41, 64.1%). The postnatal cohort included 362 children with upper limb anomalies with 49 transverse and 22 longitudinal reduction defects, 226 polydactylies, and 65 syndactylies. Chromosomal or monogenic abnormalities were identified in 76/199 (38.2%) cases of the prenatal cohort and in 31/362 (8.6%) cases of the postnatal cohort.
Conclusion
Prenatal identification of minor defects of the digits is a challenge, with more postnatal than prenatal cases. The majority of cases with isolated anomalies in both groups had no underlying chromosomal or monogenic cause, nor were they associated with a syndrome, as compared to the non‐isolated cases. Conducting structural anomaly scans and genetic counseling are crucial to assess the risk of genetic abnormalities.</description><identifier>ISSN: 0197-3851</identifier><identifier>ISSN: 1097-0223</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.6714</identifier><identifier>PMID: 39613947</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Abnormalities ; Adult ; Anomalies ; Children ; Cohort analysis ; Cohort Studies ; Defects ; Female ; Fetuses ; Genetic abnormalities ; Genetic counseling ; Genetic screening ; Genotype ; Genotypes ; Humans ; Infant, Newborn ; Male ; Original ; Phenotype ; Phenotypes ; Polydactyly ; Polydactyly - diagnosis ; Polydactyly - diagnostic imaging ; Polydactyly - epidemiology ; Polydactyly - genetics ; Postpartum period ; Pregnancy ; prenatal ultrasound ; reduction defect ; Retrospective Studies ; Risk assessment ; Syndactyly ; Syndactyly - diagnosis ; Syndactyly - epidemiology ; Syndactyly - genetics ; Ultrasonography, Prenatal ; Upper Extremity Deformities, Congenital - diagnosis ; Upper Extremity Deformities, Congenital - diagnostic imaging ; Upper Extremity Deformities, Congenital - genetics ; upper limb anomalies</subject><ispartof>Prenatal diagnosis, 2025-01, Vol.45 (1), p.3-14</ispartof><rights>2024 The Author(s). published by John Wiley & Sons Ltd.</rights><rights>2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.</rights><rights>2024. This article is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3264-840d6ce565abaf9306af714e7c2d65b98bf3c060c888d297067b216380dc80433</cites><orcidid>0009-0007-7157-6014</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.6714$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.6714$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,314,777,781,882,1412,27905,27906,45555,45556</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39613947$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Arduç, Arda</creatorcontrib><creatorcontrib>Dijk, Sandra J. B.</creatorcontrib><creatorcontrib>Cate, Feikje J.</creatorcontrib><creatorcontrib>Doesburg, Margriet H. M.</creatorcontrib><creatorcontrib>Linskens, Ingeborg H.</creatorcontrib><creatorcontrib>Leeuwen, Elisabeth</creatorcontrib><creatorcontrib>Maarle, Merel C.</creatorcontrib><creatorcontrib>Pajkrt, Eva</creatorcontrib><title>Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>ABSTRACT
Objective
To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.
Method
Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.
Results
The prenatal group included 199 pregnancies: 64 transverse and 19 longitudinal reduction defects, 103 polydactylies, and 13 cases with syndactyly. The majority of cases with longitudinal reduction defects (n = 10, 52.6%), polydactyly (n = 62, 60.2%), and syndactyly (n = 10, 76.9%) were non‐isolated, as opposed to transverse reduction defects, which were generally isolated (n = 41, 64.1%). The postnatal cohort included 362 children with upper limb anomalies with 49 transverse and 22 longitudinal reduction defects, 226 polydactylies, and 65 syndactylies. Chromosomal or monogenic abnormalities were identified in 76/199 (38.2%) cases of the prenatal cohort and in 31/362 (8.6%) cases of the postnatal cohort.
Conclusion
Prenatal identification of minor defects of the digits is a challenge, with more postnatal than prenatal cases. The majority of cases with isolated anomalies in both groups had no underlying chromosomal or monogenic cause, nor were they associated with a syndrome, as compared to the non‐isolated cases. Conducting structural anomaly scans and genetic counseling are crucial to assess the risk of genetic abnormalities.</description><subject>Abnormalities</subject><subject>Adult</subject><subject>Anomalies</subject><subject>Children</subject><subject>Cohort analysis</subject><subject>Cohort Studies</subject><subject>Defects</subject><subject>Female</subject><subject>Fetuses</subject><subject>Genetic abnormalities</subject><subject>Genetic counseling</subject><subject>Genetic screening</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Original</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Polydactyly</subject><subject>Polydactyly - diagnosis</subject><subject>Polydactyly - diagnostic imaging</subject><subject>Polydactyly - epidemiology</subject><subject>Polydactyly - genetics</subject><subject>Postpartum period</subject><subject>Pregnancy</subject><subject>prenatal ultrasound</subject><subject>reduction defect</subject><subject>Retrospective Studies</subject><subject>Risk assessment</subject><subject>Syndactyly</subject><subject>Syndactyly - diagnosis</subject><subject>Syndactyly - epidemiology</subject><subject>Syndactyly - genetics</subject><subject>Ultrasonography, Prenatal</subject><subject>Upper Extremity Deformities, Congenital - diagnosis</subject><subject>Upper Extremity Deformities, Congenital - diagnostic imaging</subject><subject>Upper Extremity Deformities, Congenital - genetics</subject><subject>upper limb anomalies</subject><issn>0197-3851</issn><issn>1097-0223</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2025</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><sourceid>EIF</sourceid><recordid>eNp1kU-LEzEYxoMobl3FbyABDwrSNZnMJBkvUlpdhYLFdc8hk7xjs8xMxiRT6c2bVz-jn8Tsti4qeMm_95cnz5MXoceUnFFCipejPeOClnfQjJJazElRsLtoRmheM1nRE_QgxqsMyqIW99EJqzlldSlm6PtmC4NP-xF-fvuRfB7Oj3u8gmiCG5PzA_Yt3gQYdNIdvpjiCCaBxXqweONjOpyvXDR-ByEXLscRAl67vsGLwfe6cxBf4QX-CCn4m9tuB3jptz4kfJEmu3-I7rW6i_DoOJ-iy7dvPi3fzdcfzt8vF-u5YQUv57IklhuoeKUb3daMcN3m3CBMYXnV1LJpmSGcGCmlzVkJF01BOZPEGklKxk7R64PuODU9WANDCrpTY3C9DnvltVN_Vwa3VZ_9TlEqqBCsygrPjwrBf5kgJtXn4NB1egA_RcUoy-8UTMiMPv0HvfJTGHK-TFWsyP5rnqlnB8rkv4kB2ls3lKjr7qrRquvuZvLJn-Zvud_tzMCLA_DVdbD_n47arG7kfgF9IrDT</recordid><startdate>202501</startdate><enddate>202501</enddate><creator>Arduç, Arda</creator><creator>Dijk, Sandra J. B.</creator><creator>Cate, Feikje J.</creator><creator>Doesburg, Margriet H. M.</creator><creator>Linskens, Ingeborg H.</creator><creator>Leeuwen, Elisabeth</creator><creator>Maarle, Merel C.</creator><creator>Pajkrt, Eva</creator><general>Wiley Subscription Services, Inc</general><general>John Wiley and Sons Inc</general><scope>24P</scope><scope>WIN</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>7QP</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0009-0007-7157-6014</orcidid></search><sort><creationdate>202501</creationdate><title>Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study</title><author>Arduç, Arda ; Dijk, Sandra J. B. ; Cate, Feikje J. ; Doesburg, Margriet H. M. ; Linskens, Ingeborg H. ; Leeuwen, Elisabeth ; Maarle, Merel C. ; Pajkrt, Eva</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3264-840d6ce565abaf9306af714e7c2d65b98bf3c060c888d297067b216380dc80433</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2025</creationdate><topic>Abnormalities</topic><topic>Adult</topic><topic>Anomalies</topic><topic>Children</topic><topic>Cohort analysis</topic><topic>Cohort Studies</topic><topic>Defects</topic><topic>Female</topic><topic>Fetuses</topic><topic>Genetic abnormalities</topic><topic>Genetic counseling</topic><topic>Genetic screening</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Original</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Polydactyly</topic><topic>Polydactyly - diagnosis</topic><topic>Polydactyly - diagnostic imaging</topic><topic>Polydactyly - epidemiology</topic><topic>Polydactyly - genetics</topic><topic>Postpartum period</topic><topic>Pregnancy</topic><topic>prenatal ultrasound</topic><topic>reduction defect</topic><topic>Retrospective Studies</topic><topic>Risk assessment</topic><topic>Syndactyly</topic><topic>Syndactyly - diagnosis</topic><topic>Syndactyly - epidemiology</topic><topic>Syndactyly - genetics</topic><topic>Ultrasonography, Prenatal</topic><topic>Upper Extremity Deformities, Congenital - diagnosis</topic><topic>Upper Extremity Deformities, Congenital - diagnostic imaging</topic><topic>Upper Extremity Deformities, Congenital - genetics</topic><topic>upper limb anomalies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Arduç, Arda</creatorcontrib><creatorcontrib>Dijk, Sandra J. B.</creatorcontrib><creatorcontrib>Cate, Feikje J.</creatorcontrib><creatorcontrib>Doesburg, Margriet H. M.</creatorcontrib><creatorcontrib>Linskens, Ingeborg H.</creatorcontrib><creatorcontrib>Leeuwen, Elisabeth</creatorcontrib><creatorcontrib>Maarle, Merel C.</creatorcontrib><creatorcontrib>Pajkrt, Eva</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Wiley Free Content</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Arduç, Arda</au><au>Dijk, Sandra J. B.</au><au>Cate, Feikje J.</au><au>Doesburg, Margriet H. M.</au><au>Linskens, Ingeborg H.</au><au>Leeuwen, Elisabeth</au><au>Maarle, Merel C.</au><au>Pajkrt, Eva</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2025-01</date><risdate>2025</risdate><volume>45</volume><issue>1</issue><spage>3</spage><epage>14</epage><pages>3-14</pages><issn>0197-3851</issn><issn>1097-0223</issn><eissn>1097-0223</eissn><abstract>ABSTRACT
Objective
To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.
Method
Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.
Results
The prenatal group included 199 pregnancies: 64 transverse and 19 longitudinal reduction defects, 103 polydactylies, and 13 cases with syndactyly. The majority of cases with longitudinal reduction defects (n = 10, 52.6%), polydactyly (n = 62, 60.2%), and syndactyly (n = 10, 76.9%) were non‐isolated, as opposed to transverse reduction defects, which were generally isolated (n = 41, 64.1%). The postnatal cohort included 362 children with upper limb anomalies with 49 transverse and 22 longitudinal reduction defects, 226 polydactylies, and 65 syndactylies. Chromosomal or monogenic abnormalities were identified in 76/199 (38.2%) cases of the prenatal cohort and in 31/362 (8.6%) cases of the postnatal cohort.
Conclusion
Prenatal identification of minor defects of the digits is a challenge, with more postnatal than prenatal cases. The majority of cases with isolated anomalies in both groups had no underlying chromosomal or monogenic cause, nor were they associated with a syndrome, as compared to the non‐isolated cases. Conducting structural anomaly scans and genetic counseling are crucial to assess the risk of genetic abnormalities.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>39613947</pmid><doi>10.1002/pd.6714</doi><tpages>12</tpages><orcidid>https://orcid.org/0009-0007-7157-6014</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Abnormalities Adult Anomalies Children Cohort analysis Cohort Studies Defects Female Fetuses Genetic abnormalities Genetic counseling Genetic screening Genotype Genotypes Humans Infant, Newborn Male Original Phenotype Phenotypes Polydactyly Polydactyly - diagnosis Polydactyly - diagnostic imaging Polydactyly - epidemiology Polydactyly - genetics Postpartum period Pregnancy prenatal ultrasound reduction defect Retrospective Studies Risk assessment Syndactyly Syndactyly - diagnosis Syndactyly - epidemiology Syndactyly - genetics Ultrasonography, Prenatal Upper Extremity Deformities, Congenital - diagnosis Upper Extremity Deformities, Congenital - diagnostic imaging Upper Extremity Deformities, Congenital - genetics upper limb anomalies |
| title | Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study |
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