Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue International Journal of Molecular Sciences Année : 2023

Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta

Jean Guibourdenche
Marie-Clémence Leguy
  • Fonction : Auteur
Christelle Laguillier
Olivia Anselem
  • Fonction : Auteur
Gilles Grangé
  • Fonction : Auteur
Fidéline Bonnet
  • Fonction : Auteur
Vassilis Tsatsaris
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-04433152 , version 1 (01-02-2024)

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Citer

Jean Guibourdenche, Marie-Clémence Leguy, Guillaume Pidoux, Marylise Hebert-Schuster, Christelle Laguillier, et al.. Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta. International Journal of Molecular Sciences, 2023, 24 (8), pp.7669. ⟨10.3390/ijms24087669⟩. ⟨hal-04433152⟩
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