Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta
It is now well established that maternal serum markers are often abnormal in fetal trisomy 21. Their determination is recommended for prenatal screening and pregnancy follow-up. However, mechanisms leading to abnormal maternal serum levels of such markers are still debated. Our objective was to help...
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MDPI AG
2023-04-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/8/7669 |
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| author | Jean Guibourdenche Marie-Clémence Leguy Guillaume Pidoux Marylise Hebert-Schuster Christelle Laguillier Olivia Anselem Gilles Grangé Fidéline Bonnet Vassilis Tsatsaris |
| author_facet | Jean Guibourdenche Marie-Clémence Leguy Guillaume Pidoux Marylise Hebert-Schuster Christelle Laguillier Olivia Anselem Gilles Grangé Fidéline Bonnet Vassilis Tsatsaris |
| author_sort | Jean Guibourdenche |
| collection | DOAJ |
| description | It is now well established that maternal serum markers are often abnormal in fetal trisomy 21. Their determination is recommended for prenatal screening and pregnancy follow-up. However, mechanisms leading to abnormal maternal serum levels of such markers are still debated. Our objective was to help clinicians and scientists unravel the pathophysiology of these markers via a review of the main studies published in this field, both in vivo and in vitro, focusing on the six most widely used markers (hCG, its free subunit hCGβ, PAPP-A, AFP, uE3, and inhibin A) as well as cell-free feto–placental DNA. Analysis of the literature shows that mechanisms underlying each marker’s regulation are multiple and not necessarily directly linked with the supernumerary chromosome 21. The crucial involvement of the placenta is also highlighted, which could be defective in one or several of its functions (turnover and apoptosis, endocrine production, and feto–maternal exchanges and transfer). These defects were neither constant nor specific for trisomy 21, and might be more or less pronounced, reflecting a high variability in placental immaturity and alteration. This explains why maternal serum markers can lack both specificity and sensitivity, and are thus restricted to screening. |
| first_indexed | 2024-03-11T04:54:55Z |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T04:54:55Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-45dabe83902b4ee580e0fb53617b37cb2023-11-17T19:44:04ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-04-01248766910.3390/ijms24087669Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the PlacentaJean Guibourdenche0Marie-Clémence Leguy1Guillaume Pidoux2Marylise Hebert-Schuster3Christelle Laguillier4Olivia Anselem5Gilles Grangé6Fidéline Bonnet7Vassilis Tsatsaris8Hormonologie CHU Cochin AP-HP, 75014 Paris, FranceHormonologie CHU Cochin AP-HP, 75014 Paris, FranceINSERM UMR-S1180, 75014 Paris, FranceFaculté de Santé, Université Paris Cité, 75014 Paris, FranceHormonologie CHU Cochin AP-HP, 75014 Paris, FranceFHU Préma, 75014 Paris, FranceFHU Préma, 75014 Paris, FranceHormonologie CHU Cochin AP-HP, 75014 Paris, FranceFaculté de Santé, Université Paris Cité, 75014 Paris, FranceIt is now well established that maternal serum markers are often abnormal in fetal trisomy 21. Their determination is recommended for prenatal screening and pregnancy follow-up. However, mechanisms leading to abnormal maternal serum levels of such markers are still debated. Our objective was to help clinicians and scientists unravel the pathophysiology of these markers via a review of the main studies published in this field, both in vivo and in vitro, focusing on the six most widely used markers (hCG, its free subunit hCGβ, PAPP-A, AFP, uE3, and inhibin A) as well as cell-free feto–placental DNA. Analysis of the literature shows that mechanisms underlying each marker’s regulation are multiple and not necessarily directly linked with the supernumerary chromosome 21. The crucial involvement of the placenta is also highlighted, which could be defective in one or several of its functions (turnover and apoptosis, endocrine production, and feto–maternal exchanges and transfer). These defects were neither constant nor specific for trisomy 21, and might be more or less pronounced, reflecting a high variability in placental immaturity and alteration. This explains why maternal serum markers can lack both specificity and sensitivity, and are thus restricted to screening.https://www.mdpi.com/1422-0067/24/8/7669hCGhCG free β subunitinhibin APAPP-Aunconjugated estriolplacenta |
| spellingShingle | Jean Guibourdenche Marie-Clémence Leguy Guillaume Pidoux Marylise Hebert-Schuster Christelle Laguillier Olivia Anselem Gilles Grangé Fidéline Bonnet Vassilis Tsatsaris Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta International Journal of Molecular Sciences hCG hCG free β subunit inhibin A PAPP-A unconjugated estriol placenta |
| title | Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta |
| title_full | Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta |
| title_fullStr | Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta |
| title_full_unstemmed | Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta |
| title_short | Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta |
| title_sort | biochemical screening for fetal trisomy 21 pathophysiology of maternal serum markers and involvement of the placenta |
| topic | hCG hCG free β subunit inhibin A PAPP-A unconjugated estriol placenta |
| url | https://www.mdpi.com/1422-0067/24/8/7669 |
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