Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega, Krzysztof Piotrowski, Rita Genesio, Gloria Queipo, Barbara Malvestiti, Bérénice Hervé, Brigitte Benzacken, Antonio Novelli, Philippe Vago, Kirsi Piippo, Tak Yeung Leung & 5 others Federico Maggi, Thibault Quibel, Anne Claude Tabet, Giuseppe Simoni, François Vialard

Research output: Contribution to journalArticle

117 Citations (Scopus)

Abstract

Objectives: The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-BeadsTM (PNBoBsTM) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBsTM under different prenatal indications. Methods: A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBsTM and classified by prenatal indication. The frequencies of the genomic defects and their 95%CIs were calculated for each indication. Results: The overall incidence of cryptic imbalances was 0.7%. The majority involved the DiGeorge syndrome critical region (DGS). The additional diagnostic yield of PNBoBsTM in the population with a low a priori risk was 1/298. The prevalences of DGS microdeletion and microduplication in the low-risk population were 1/992 and 1/850, respectively. Conclusions: The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis.

Original languageEnglish
Pages (from-to)801-809
Number of pages9
JournalPrenatal Diagnosis
Volume35
Issue number8
DOIs
Publication statusPublished - Aug 1 2015

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Pregnancy
DiGeorge Syndrome
Karyotyping
Maternal Age
Microarray Analysis
Prenatal Diagnosis
Population
Technology
DNA
Incidence

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Grati, F. R., Molina Gomes, D., Ferreira, J. C. P. B., Dupont, C., Alesi, V., Gouas, L., ... Vialard, F. (2015). Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenatal Diagnosis, 35(8), 801-809. https://doi.org/10.1002/pd.4613

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. / Grati, Francesca Romana; Molina Gomes, Denise; Ferreira, Jose Carlos Pinto B; Dupont, Celine; Alesi, Viola; Gouas, Laetitia; Horelli-Kuitunen, Nina; Choy, Kwong Wai; García-Herrero, Sandra; de la Vega, Alberto Gonzalez; Piotrowski, Krzysztof; Genesio, Rita; Queipo, Gloria; Malvestiti, Barbara; Hervé, Bérénice; Benzacken, Brigitte; Novelli, Antonio; Vago, Philippe; Piippo, Kirsi; Leung, Tak Yeung; Maggi, Federico; Quibel, Thibault; Tabet, Anne Claude; Simoni, Giuseppe; Vialard, François.

In: Prenatal Diagnosis, Vol. 35, No. 8, 01.08.2015, p. 801-809.

Research output: Contribution to journalArticle

Grati, FR, Molina Gomes, D, Ferreira, JCPB, Dupont, C, Alesi, V, Gouas, L, Horelli-Kuitunen, N, Choy, KW, García-Herrero, S, de la Vega, AG, Piotrowski, K, Genesio, R, Queipo, G, Malvestiti, B, Hervé, B, Benzacken, B, Novelli, A, Vago, P, Piippo, K, Leung, TY, Maggi, F, Quibel, T, Tabet, AC, Simoni, G & Vialard, F 2015, 'Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies', Prenatal Diagnosis, vol. 35, no. 8, pp. 801-809. https://doi.org/10.1002/pd.4613
Grati FR, Molina Gomes D, Ferreira JCPB, Dupont C, Alesi V, Gouas L et al. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenatal Diagnosis. 2015 Aug 1;35(8):801-809. https://doi.org/10.1002/pd.4613
Grati, Francesca Romana ; Molina Gomes, Denise ; Ferreira, Jose Carlos Pinto B ; Dupont, Celine ; Alesi, Viola ; Gouas, Laetitia ; Horelli-Kuitunen, Nina ; Choy, Kwong Wai ; García-Herrero, Sandra ; de la Vega, Alberto Gonzalez ; Piotrowski, Krzysztof ; Genesio, Rita ; Queipo, Gloria ; Malvestiti, Barbara ; Hervé, Bérénice ; Benzacken, Brigitte ; Novelli, Antonio ; Vago, Philippe ; Piippo, Kirsi ; Leung, Tak Yeung ; Maggi, Federico ; Quibel, Thibault ; Tabet, Anne Claude ; Simoni, Giuseppe ; Vialard, François. / Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. In: Prenatal Diagnosis. 2015 ; Vol. 35, No. 8. pp. 801-809.
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AU - Alesi, Viola

AU - Gouas, Laetitia

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AU - García-Herrero, Sandra

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AU - Genesio, Rita

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AU - Malvestiti, Barbara

AU - Hervé, Bérénice

AU - Benzacken, Brigitte

AU - Novelli, Antonio

AU - Vago, Philippe

AU - Piippo, Kirsi

AU - Leung, Tak Yeung

AU - Maggi, Federico

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