Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines

Sophie Dreux; Jonathan Rosenblatt; Jérôme Massardier; Alexandra Benachi; Etienne Voirin-Mathieu; ABA Study Group; Françoise Muller

doi:10.1002/pd.6588

Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines

Prenat Diagn. 2024 May 17. doi: 10.1002/pd.6588. Online ahead of print.

Authors

Sophie Dreux^{1

2}, Jonathan Rosenblatt^{2

3}, Jérôme Massardier^{2

4

5}, Alexandra Benachi^{2

6}, Etienne Voirin-Mathieu¹; ABA Study Group; Françoise Muller^{1

2}

Collaborators

ABA Study Group:
Françoise Muller^{1

2}, F Boitte, V Moal, M C Denis, P Lorenter, M Jouval, B Sitruk, V Suybeng, S Verchain, S Herbreteau, F Treyssac, V Gras, J Guiot, D Savarit, P Blouin, M Zanusso, P Clément, A Georges, J Brossaud, I Fischer, M P Moineau, H Kerspern, D Guenet, P Andlauer, E Gaeremynck, S Berchiche, F Bolos, F Barba, I Bassenne, C Lebrun, N Terrier, S Kemeny, C Delevallée, G Marceau, V Sapin, C Gehrke, J P Robert, S Lemaire, L Ménégaut, G Lefaure, V Petit, A S Gauchez-Quenin, L Pavili, F Chevallier-Helas, I Prado-Vinas, E Berreville, P Caneiro, F Artur, D Thibaud, P Sigogneau, H Groussin, G Renom, S Lepers, T Chianéa, B Veyrat, L Le Querler, T Martin-Denavit, C Sault, A Galland, M Pettazzoni, D Cheillan, M P Brechard, P Yerokine, A Levy-Mozziconacci, C Toga, C Giorgetti, O Saunier, M Sainte-Rose, R Wasels, D Aubertin, H Rahil, T Roucaute, N Boulle, J Solassol, M Minery, C Baillet, P Dauch, I Chevillon, D Masson, N Graveline, A Medallel, C M Rotella, C D'Uva, Y Barguil, M Duhin, L Got, H Mulot, J Taieb, M Lachgar, L Druart, J M Ramirez, I Lacroix, B Brethome, G Cassuto, M Cohen-Bacrie, F Ternaux, M P Beaujard, M Annette-Reisch, V Serazin, S Dreux, F Muller, S Cens, M P Bounaud, E Nowak, J M Dossot, H Odaert, M Quillard Murain, H Girot, S Bastard, G Descombes, G Belot, B Tisseur, J Gouneaud, C Louzier, F Tosetti, S Romain, L Handwerk, R Molignier, P De Mas, M Le Van, B Estepa, K Tang

Affiliations

¹ Biochimie-Hormonologie, Hôpital R. Debré, DMU Biogem AP-HP, Paris, France.
² Fédération des CPDPN, Paris, France.
³ Gynécologie-Obstétrique, Hôpital Robert Debré, AP-HP, Paris, France.
⁴ Gynécologie-Obstétrique, HFME, Hospices Civils de Lyon, Lyon, France.
⁵ Centre Français de Référence des Maladies Trophoblastiques, Pierre Bénite, France.
⁶ Gynécologie-Obstétrique, Hôpital Antoine Béclère, AP-HP, Université Paris Saclay Clamart, Paris, France.

PMID: 38757850
DOI: 10.1002/pd.6588

Abstract

Aim: This aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines.

Methods: This is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM. Complementary exams and outcomes were analyzed.

Results: The calculated frequency was 0.05% for hCGβ ≥10 MoM in unselected patients. For this series of 289 cases, a complication of the pregnancy or a poor outcome was observed in 145 cases (51%) as follows: 96 (66%) cases of fetal disease, 23 (16%) of maternal disease, 5 (3.5%) of placental anomalies and 21 (14.5%) of systemic disease concerning mother, fetus and placenta.

Conclusion: This study establishes the frequency of hCG or hCGβ values ≥10 MoM, presents a flow chart that optimizes follow-up, and gives clear information for patients presenting with such abnormal values at trisomy 21 screening.