Search Results - "Pauta, M."

Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta‐analysis by Pauta, M., Martinez‐Portilla, R. J., Borrell, A.

“…ABSTRACT Objective To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses…”
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Diagnostic yield of next‐generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta‐analysis by Pauta, M., Martinez‐Portilla, R. J., Borrell, A.

“…ABSTRACT Objective To determine the diagnostic yield of exome or genome sequencing (ES/GS) over chromosomal microarray analysis (CMA) in fetuses with increased…”
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Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta‐analysis by Pauta, M., Grande, M., Rodriguez‐Revenga, L., Kolomietz, E., Borrell, A.

“…ABSTRACT Objective To estimate the increased test success rate and incremental yield of chromosomal microarray analysis (CMA) over conventional karyotyping in…”
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OC06.05: Adequacy of expanded rasopathies panels for fetuses with isolated increased nuchal translucency: an evaluation of gene coverage by Borrell, A., Pauta, M., Borobio, V., Laura, G., Rodriguez‐Revenga, L.

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OC06.04: Application of cell‐free DNA testing in cases of early pregnancy loss: a systematic review and meta‐analysis by Borrell, M., Pauta, M., Martinez‐Portilla, R.J., Jara‐Ettinger, A., Borrell, A.

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OC18.03: Prenatal‐exome sequencing in recurrent fetal structural anomalies: systematic review and meta‐analysis by Borrell, A., Pauta, M., Martinez‐Portilla, R.J.

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VP28.11: Some fetal aneuploidy markers are also markers of copy number variants by Mino, M.F. Paz Y, Pauta, M., Borrell, A.

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OC07.08: Diagnostic yield of a targeted next‐generation sequencing gene panel in fetuses with persistent nuchal fold/hygroma or hydrops by Borrell, A., Pauta, M., Borobio, V., Garcia‐Villoria, J., Laura, G.

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OC08.01: Impact of revealing the cause of an early pregnancy loss on the grief adaptive process by Borrell, A., Mallorqui, A., Nogue, L., Paz y Miño, F., Pauta, M.

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EP26.24: The etiology of fetal renal dysplasias investigated by means of a prenatal CAKUT targeted NGS gene panel by Borobio, V., Pérez‐Cruz, M., Pauta, M., Martínez, J., Ars, E., Borrell, A.

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EP23.07: Prenatal ultrasound findings in fetuses with 1p36 deletion syndrome by Otaño, J., Pauta, M., Nadal, A., Rodriguez‐Revenga, L., Martínez, J., Borrell, A.

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EP29.05: Does the prenatal phenotype of CHARGE syndrome overlap with the postnatal phenotype? by Gutierrez, A.S. Castellanos, Pauta, M., Rodriguez‐Revenga, L., Borrell, A.

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Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non‐placental origin by Paz y Miño, M. F., Pauta, M., Meler, E., Matas, I., Mazarico, E., Camacho, A., Segura, M., Figueras, F., Borrell, A.

“…ABSTRACT Objective To determine the frequency of genetic syndromes and childhood neurodevelopmental impairment in non‐malformed infants born at term with…”
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OC07.09: High frequency of secondary findings in exome sequencing analysis for fetuses with ultrasound findings by Borrell, A., Ordoñez, E., Pauta, M., Paz y Miño, F., Allmeida, M., Leon, M., Cirigliano, V.

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Should cell‐free DNA testing be used in pregnancy with increased fetal nuchal translucency? by Miranda, J., Paz y Miño, F., Borobio, V., Badenas, C., Rodriguez‐Revenga, L., Pauta, M., Borrell, A.

“…ABSTRACT Objective To assess the frequency of atypical chromosomal and submicroscopic anomalies, as well as fetal structural abnormalities, observed on…”
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OP05.02: Postnatal genetic and neurodevelopmental assessment in non‐placental severely small‐for‐gestational‐age infants born at term by Borrell, A., Paz y Miño, F., Pauta, M., Meler, E., Mazarico, E., Barcelo, I. Matas, Camacho, A., Segura, M., Figueras, F.

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OC11.03: A randomised controlled trial on the influence of extensive prenatal counselling on the attitudes and preferences towards first‐line prenatal testing for fetal aneuploidy detection (INVASIVE) by Mino, M.F. Paz Y., Martinez‐Portilla, R.J., Pauta, M., Borrell, A.

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OC04.09: Severe fetal growth restriction and normal Doppler: postnatal‐exome sequencing and neurodevelopment assessment by Mino, M.F. Paz Y, Pauta, M., Meler, E., Barcelo, I. Matas, Mazarico, E., Arca, G., Figueras, F., Borrell, A.

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OC05.03: Impact of the etiologic diagnosis in early pregnancy loss assessed by means of depression, anxiety and post‐traumatic stress disorder scales by Borrell, A., Pauta, M., Nogue, L., Paz y Miño, F., Barcelo, I. Matas, Mallorquí, A.

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OP21.11: Added value of chromosomal microarray analysis above conventional karyotyping in stillbirth work‐up: systematic review and meta‐analysis by Martinez‐Portilla, R.J., Hawkins, A., Pauta, M., Borrell, A.

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