A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss

Autor: Montse Pauta, Cèlia Badenas, Laia Rodriguez-Revenga, Anna Soler, Maribel Grande, Joan Sabrià, Carmen Illanes, Virginia Borobio, Antoni Borrell

Publikováno v: Frontiers in Genetics, Vol 11 (2021)

Objective: To explore the use of a new molecular work-up based on the stepwise use of Quantitative Fluorescence PCR (QF-PCR) extended to eight chromosomes and single nucleotide polymorphism array (SNP-array) in chorionic villi obtained by chorionic v

Externí odkaz: https://doaj.org/article/c88551af06ab4401951e598e5fdc01a5

Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta-analysis

Autor: Montse Pauta, Laia Rodriguez-Revenga, Maribel Grande, Elena Kolomietz, Antoni Borrell

Publikováno v: ULTRASOUND IN OBSTETRICS & GYNECOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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To estimate the increased test success rate and incremental yield of chromosomal microarray analysis (CMA) over conventional karyotyping in detection of pathogenic copy number variants (CNVs) and variants of unknown significance (VOUS) in early pregn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a27013d9bb6306701cbdb98b5b271248
https://doi.org/10.1002/uog.18929

Further insights into diastolic dysfunction in first-trimester trisomy-21 fetuses

Autor: Antoni Borrell, J. M. Martínez, Fatima Crispi, Raquel Mula, Maribel Grande, Virginia Borobio, Eduard Gratacós, Mar Bennasar

Publikováno v: Ultrasound in Obstetrics & Gynecology. 45:205-210

Objective To assess fetal cardiac function in first-trimester trisomy-21 fetuses as compared with fetuses with other aneuploidies, euploid fetuses with cardiac defects or isolated increased nuchal translucency (NT) and controls. Methods During a 2.5-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0348dda97a4ed7dcd708c3f0b04e8eb3
https://doi.org/10.1002/uog.13380

Nuchal translucency thickness in the prediction of unbalanced translocations

Autor: Anna Soler, M. Arigita, Raquel Mula, Antoni Borrell, Virginia Borobio, Aurora Sánchez, Maribel Grande

Publikováno v: Prenatal Diagnosis. 34:982-985

Objective The aim of this study was to assess the role of nuchal translucency (NT) in the prediction of unbalanced translocation in offspring of couples in which one of the parents is a balanced translocation carrier. Material and methods From Januar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0edd8dba19977ecc3d679ee1f4bbf6f9
https://doi.org/10.1002/pd.4409

Cervical Alpha-Actinin-4 Is Upregulated in Women with Threatened Preterm Labor and Microbial Invasion of the Amniotic Cavity

Autor: Ana B. Sánchez-García, Montse Palacio, Maribel Grande, Josep Maria Estanyol, Jordi Bosch, Eduard Gratacós, Cristina Vidal Martí, Teresa Cobo, Marta López

Publikováno v: Fetal diagnosis and therapy. 44(1)

Objective: To characterize the proteome profile of women with threatened preterm labor (PTL) below 34;0 weeks with and without microbial invasion of the amniotic cavity (MIAC) using mass spectrometry in the amniotic fluid (AF) and Western blot analys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255497fb6109a9b23df5b914ebd2764c
https://pubmed.ncbi.nlm.nih.gov/28743114