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1. Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

Author

Marangoni, Martina, Smits, Guillaume, Ceysens, Gilles, Costa, Elena, Coulon, Robert, Daelemans, Caroline, De Coninck, Caroline, Derisbourg, Sara, Gajewska, Kalina, Garofalo, Giulia, Gounongbe, Caroline, Guizani, Meriem, Holoye, Anne, Houba, Catherine, Makhoul, Jean, Norgaard, Christian, Regnard, Cecile, Romée, Stephanie, Soto, Jamil, Stagel-Trabbia, Aurore, Van Rysselberge, Michel, Vercoutere, An, Zaytouni, Siham, Bouri, Sarah, DʼHaene, Nicky, DʼOnle, Dominique, Dugauquier, Christian, Racu, Marie-Lucie, Rocq, Laureen, Segers, Valérie, Verocq, Camille, Avni, Ephraim Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Guillaume, Dimitrov, Boyan, Janssens, Sandra, Keymolen, Kathelijn, Laterre, Marie, van Berkel, Kim, Van Maldergem, Lionel, Vandernoot, Isabelle, Vilain, Catheline, Donner, Catherine, Tecco, Laura, Thomas, Dominique, Désir, Julie, Abramowicz, Marc, and Migeotte, Isabelle

Published
2022
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3. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Author

Marangoni, Martina, primary, Smits, Guillaume, additional, Ceysens, Gilles, additional, Costa, Elena, additional, Coulon, Robert, additional, Daelemans, Caroline, additional, De Coninck, Caroline, additional, Derisbourg, Sara, additional, Gajewska, Kalina, additional, Garofalo, Giulia, additional, Gounongbe, Caroline, additional, Guizani, Meriem, additional, Holoye, Anne, additional, Houba, Catherine, additional, Makhoul, Jean, additional, Norgaard, Christian, additional, Regnard, Cecile, additional, Romée, Stephanie, additional, Soto, Jamil, additional, Stagel-Trabbia, Aurore, additional, Van Rysselberge, Michel, additional, Vercoutere, An, additional, Zaytouni, Siham, additional, Bouri, Sarah, additional, D'Haene, Nicky, additional, D'Onle, Dominique, additional, Dugauquier, Christian, additional, Racu, Marie-Lucie, additional, Rocq, Laureen, additional, Segers, Valérie, additional, Verocq, Camille, additional, Avni, Ephraim Freddy, additional, Cassart, Marie, additional, Massez, Anne, additional, Blaumeiser, Bettina, additional, Brischoux-Boucher, Elise, additional, Bulk, Saskia, additional, De Ravel, Thomy, additional, Debray, Guillaume, additional, Dimitrov, Boyan, additional, Janssens, Sandra, additional, Keymolen, Kathelijn, additional, Laterre, Marie, additional, van Berkel, Kim, additional, Van Maldergem, Lionel, additional, Vandernoot, Isabelle, additional, Vilain, Catheline, additional, Donner, Catherine, additional, Tecco, Laura, additional, Thomas, Dominique, additional, Désir, Julie, additional, Abramowicz, Marc, additional, and Migeotte, Isabelle, additional

Published
2022
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4. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Author

Marangoni, Martina, Smits, Guillaume, Ceysens, Gilles, Costa, Elena, Coulon, Robert, Daelemans, Caroline, De Coninck, Caroline, Derisbourg, Sara, Gajewska, Kalina, Garofalo, Giulia, Gounongbe, Caroline, Guizani, Meriem, Holoye, Anne, Houba, Catherine, Makhoul, Jean, Norgaard, Christian, Regnard, Cecile, Romée, Stephanie, Soto, Jamil, Stagel-Trabbia, Aurore, Van Rysselberge, Michel, Vercoutere, An, Zaytouni, Siham, Bouri, Sarah, D'Haene, Nicky, D'Onle, Dominique, Dugauquier, Christian, Racu, Marie-Lucie, Rocq, Laureen, Segers, Valérie, Verocq, Camille, Avni, Ephraïm Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Francois-Guillaume, Dimitrov, Boyan, Janssens, Sandra, Keymolen, Kathelijn, Laterre, Marie, van Berkel, Kim, Van Maldergem, Lionel, Vandernoot, Isabelle, Vilain, Catheline, donner, catherine, Tecco, Laura, Thomas, Dominique, Désir, Julie, Abramowicz, Marc, Migeotte, Isabelle, Marangoni, Martina, Smits, Guillaume, Ceysens, Gilles, Costa, Elena, Coulon, Robert, Daelemans, Caroline, De Coninck, Caroline, Derisbourg, Sara, Gajewska, Kalina, Garofalo, Giulia, Gounongbe, Caroline, Guizani, Meriem, Holoye, Anne, Houba, Catherine, Makhoul, Jean, Norgaard, Christian, Regnard, Cecile, Romée, Stephanie, Soto, Jamil, Stagel-Trabbia, Aurore, Van Rysselberge, Michel, Vercoutere, An, Zaytouni, Siham, Bouri, Sarah, D'Haene, Nicky, D'Onle, Dominique, Dugauquier, Christian, Racu, Marie-Lucie, Rocq, Laureen, Segers, Valérie, Verocq, Camille, Avni, Ephraïm Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Francois-Guillaume, Dimitrov, Boyan, Janssens, Sandra, Keymolen, Kathelijn, Laterre, Marie, van Berkel, Kim, Van Maldergem, Lionel, Vandernoot, Isabelle, Vilain, Catheline, donner, catherine, Tecco, Laura, Thomas, Dominique, Désir, Julie, Abramowicz, Marc, and Migeotte, Isabelle

Abstract

We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2021

6. Prenatal ultrasound detection of congenital cataract in trisomy 21

Author

Romain, Muriel, Awoust, Joelle, Dugauquier, Christian, Van Maldergem, Lionel, Romain, Muriel, Awoust, Joelle, Dugauquier, Christian, and Van Maldergem, Lionel

Abstract

A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosis of this complication of Down syndrome., SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published

Published
1999

9. A rare case of de novo distal 19q trisomy prenatally diagnosed.

Author

Rombout, Sonia, Sartenaer, Daniel, Parmentier, Benoît, Dugauquier, Christian, and Gillerot, Yves

Abstract

We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis. The autopsy performed after termination of the pregnancy showed major internal and external malformations that are associated with this chromosome abnormality. Copyright © 2004 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2004
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