Multicenter Study

. 2024 Jul;44(8):959-964.

doi: 10.1002/pd.6588. Epub 2024 May 17.

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

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, Affiliations

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

Multicenter Study

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

Sophie Dreux et al. Prenat Diagn. 2024 Jul.

. 2024 Jul;44(8):959-964.

doi: 10.1002/pd.6588. Epub 2024 May 17.

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.

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References

REFERENCES

1. Cuckle H. Prenatal screening using maternal markers. J Clin Med. 2014;3(2):504‐520. https://doi.org/10.3390/jcm3020504
1. Wald NJ, Cuckle HS, Densem JW, et al. Maternal serum screening for Down's syndrome in early pregnancy. Br Med J. 1988;297(6653):883‐887. https://doi.org/10.1136/bmj.297.6653.883
1. Haddow JE, Palomaki GE, Knight GJ, et al. Prenatal screening for Down’s syndrome with use of maternal serum markers. N Engl J Med. 1992;327(9):588‐593. https://doi.org/10.1056/nejm199208273270902
1. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaïdes KH. Analysis of cell‐free DNA in maternal blood in screening for aneuploidies: up dated meta‐analysis. Ultrasound Obstet Gynecol. 2017;50(3):302‐314. https://doi.org/10.1002/uog.17484
1. Arrêté du 14 décembre 2018 modifié fixant les règles de bonnes pratiques en matière de dépistage et de diagnostic prénatals avec utilisation des marqueurs sériques maternels de trisomie 21. https://www.legifrance.gouv.fr/jorf/article_jo/JORFARTI000037833071

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

Collaborators

Affiliations

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

Authors

Collaborators

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical