Cell-free DNA screening for fetal 22q11.2 deletion: a targeted test or genome-wide methodology?
- PMID: 34596306
- DOI: 10.1002/uog.24751
Cell-free DNA screening for fetal 22q11.2 deletion: a targeted test or genome-wide methodology?
Comment in
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Reply.Ultrasound Obstet Gynecol. 2021 Oct;58(4):646. doi: 10.1002/uog.24752. Ultrasound Obstet Gynecol. 2021. PMID: 34596305 No abstract available.
Comment on
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Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort.Ultrasound Obstet Gynecol. 2021 Oct;58(4):597-602. doi: 10.1002/uog.23699. Ultrasound Obstet Gynecol. 2021. PMID: 34090308 Free PMC article.
References
-
- Kruszka P , Addissie YA , McGinn DE , Porras AR , Biggs E , Share M , Crowley TB , Chung BH , Mok GT , Mak CC , Muthukumarasamy P , Thong MK , Sirisena ND , Dissanayake VH , Paththinige CS , Prabodha LB , Mishra R , Shotelersuk V , Ekure EN , Sokunbi OJ , Kalu N , Ferreira CR , Duncan JM , Patil SJ , Jones KL , Kaplan JD , Abdul-Rahman OA , Uwineza A , Mutesa L , Moresco A , Obregon MG , Richieri-Costa A , Gil-da-Silva-Lopes VL , Adeyemo AA , Summar M , Zackai EH , McDonald-McGinn DM , Linguraru MG , Muenke M. 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A 2017; 173: 879-888.
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- Grati FR , Molina Gomes D , Ferreira JC , 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 . Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn 2015; 35: 801-809.
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- Bevilacqua E , Jani JC , Chaoui R , Suk EKA , Palma-Dias R , Ko TM , Warsof S , Stokowski R , Jones KJ , Grati FR , Schmid M . Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort. Ultrasound Obstet Gynecol 2021; 58: 597-602.
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- Sabbagh R , Van den Veyver IB . The current and future impact of genome-wide sequencing on fetal precision medicine. Hum Genet 2020; 139: 1121-1130.
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- Benn P , Grati FR . Genome-wide non-invasive prenatal screening for all cytogenetically visible imbalances. Ultrasound Obstet Gynecol 2018; 51: 429-433.
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