Population monitoring of trisomy 21: problems and approaches
Abstract Trisomy 21 (Down syndrome) is the most common autosomal aneuploidy among newborns. About 90% result from meiotic nondisjunction during oogenesis, which occurs around conception, when also the most profound epigenetic modifications take place. Thus, maternal meiosis is an error prone process...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-023-00637-1 |
| _version_ | 1797827331439460352 |
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| author | Karl Sperling Hagen Scherb Heidemarie Neitzel |
| author_facet | Karl Sperling Hagen Scherb Heidemarie Neitzel |
| author_sort | Karl Sperling |
| collection | DOAJ |
| description | Abstract Trisomy 21 (Down syndrome) is the most common autosomal aneuploidy among newborns. About 90% result from meiotic nondisjunction during oogenesis, which occurs around conception, when also the most profound epigenetic modifications take place. Thus, maternal meiosis is an error prone process with an extreme sensitivity to endogenous factors, as exemplified by maternal age. This contrasts with the missing acceptance of causal exogenous factors. The proof of an environmental agent is a great challenge, both with respect to ascertainment bias, determination of time and dosage of exposure, as well as registration of the relevant individual health data affecting the birth prevalence. Based on a few exemplary epidemiological studies the feasibility of trisomy 21 monitoring is illustrated. In the nearer future the methodical premises will be clearly improved, both due to the establishment of electronic health registers and to the introduction of non-invasive prenatal tests. Down syndrome is a sentinel phenotype, presumably also with regard to other congenital anomalies. Thus, monitoring of trisomy 21 offers new chances for risk avoidance and preventive measures, but also for basic research concerning identification of relevant genomic variants involved in chromosomal nondisjunction. |
| first_indexed | 2024-04-09T12:46:19Z |
| format | Article |
| id | doaj.art-830cb8e2770c47d49c386ccbb30df2f9 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-09T12:46:19Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-830cb8e2770c47d49c386ccbb30df2f92023-05-14T11:28:50ZengBMCMolecular Cytogenetics1755-81662023-05-0116111210.1186/s13039-023-00637-1Population monitoring of trisomy 21: problems and approachesKarl Sperling0Hagen Scherb1Heidemarie Neitzel2Institute of Medical and Human Genetics, Charité-Universitaetsmedizin BerlinInstitute of Computational Biology, Helmholtz Zentrum München – German Research Center for Environmental HealthInstitute of Medical and Human Genetics, Charité-Universitaetsmedizin BerlinAbstract Trisomy 21 (Down syndrome) is the most common autosomal aneuploidy among newborns. About 90% result from meiotic nondisjunction during oogenesis, which occurs around conception, when also the most profound epigenetic modifications take place. Thus, maternal meiosis is an error prone process with an extreme sensitivity to endogenous factors, as exemplified by maternal age. This contrasts with the missing acceptance of causal exogenous factors. The proof of an environmental agent is a great challenge, both with respect to ascertainment bias, determination of time and dosage of exposure, as well as registration of the relevant individual health data affecting the birth prevalence. Based on a few exemplary epidemiological studies the feasibility of trisomy 21 monitoring is illustrated. In the nearer future the methodical premises will be clearly improved, both due to the establishment of electronic health registers and to the introduction of non-invasive prenatal tests. Down syndrome is a sentinel phenotype, presumably also with regard to other congenital anomalies. Thus, monitoring of trisomy 21 offers new chances for risk avoidance and preventive measures, but also for basic research concerning identification of relevant genomic variants involved in chromosomal nondisjunction.https://doi.org/10.1186/s13039-023-00637-1Down syndromeTrisomy 21AneuploidyEpidemiologyRisk factorsPreventive medicine |
| spellingShingle | Karl Sperling Hagen Scherb Heidemarie Neitzel Population monitoring of trisomy 21: problems and approaches Molecular Cytogenetics Down syndrome Trisomy 21 Aneuploidy Epidemiology Risk factors Preventive medicine |
| title | Population monitoring of trisomy 21: problems and approaches |
| title_full | Population monitoring of trisomy 21: problems and approaches |
| title_fullStr | Population monitoring of trisomy 21: problems and approaches |
| title_full_unstemmed | Population monitoring of trisomy 21: problems and approaches |
| title_short | Population monitoring of trisomy 21: problems and approaches |
| title_sort | population monitoring of trisomy 21 problems and approaches |
| topic | Down syndrome Trisomy 21 Aneuploidy Epidemiology Risk factors Preventive medicine |
| url | https://doi.org/10.1186/s13039-023-00637-1 |
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