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151 results on '"Borobio, V."'

2. EP06.15: Incidence of copy number variations in fetuses with isolated upper urinary tract dilatations.

Author

Cabral, L., Mimbrero, A. Martinez, Marimon, E., Sabria, J., Martínez, J., Borobio, V., and Pérez‐Cruz, M.

Subjects
KIDNEY pelvis, URINARY organs, GESTATIONAL age, DATA recorders & recording, AMNIOCENTESIS
Abstract

This article, titled "EP06.15: Incidence of copy number variations in fetuses with isolated upper urinary tract dilatations," examines the occurrence of copy number variations (CNV) in fetuses with isolated upper urinary tract dilatations. The study, conducted retrospectively from 2011 to 2024, included 117 fetuses identified as low risk in first trimester combined screening. The results showed that CNV was diagnosed in 2 cases (1.7%), both of which were associated with moderate dilatations. The study suggests that amniocentesis for CNV analysis should be considered for moderate and severe dilatations. [Extracted from the article]

Published
2024
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6. Next-Generation Sequencing Gene Panels and 'Solo' Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses

Author

Pauta M, Campos B, Segura-Puimedon M, Arca-Diaz G, Nadal A, Tubau A, Perez SP, Marimon-Garcia E, Martín L, López-Quesada E, Sabria-Bach J, Muñoz B, Garcia E, Paz Y Miño F, Borobio V, Gomez O, Eixarch E, Lopez M, Comas Rovira M, Borrell A, and Borrell, Antoni

Subjects
Congenital malformations, Exome sequencing, Fetal genetic analysis, Prenatal diagnosis, Genetic disorder, Single gene disorders
Abstract

OBJECTIVE: The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and "solo" clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA), in the absence of a known familial mutation. METHODOLOGY: Gene panels encompassing from 2 to 140 genes, were applied mainly in persistent nuchal fold/fetal hydrops and in large hyperechogenic kidneys. Solo-CES, which entails sequencing the fetus alone and only interpreting the Online Mendelian Inheritance in Man genes, was performed in multisystem or recurrent structural anomalies. RESULTS: During the study period (2015-2020), 153 NGS studies were performed in 148 structurally abnormal fetuses with a normal CMA. The overall diagnostic yield accounted for 35% (53/153) of samples and 36% (53/148) of the fetuses. Diagnostic yield with the gene panels was 31% (15/49), similar to 37% (38/104) in solo-CES. CONCLUSIONS: A monogenic disease was established as the underlying cause in 35% of selected fetal structural anomalies by gene panels and solo-CES.

Published
2021

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

Author

Pauta M, Badenas C, Rodriguez-Revenga L, Soler A, Grande M, Sabria-Bach J, Illanes C, Borobio V, and Borrell A

Subjects
complete hydatidiform mole, prenatal diagnosis, chorionic villi sampling, products of conception, copy number variant, chromosomal anomalies, early pregnancy loss
Abstract

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 villi sampling (CVS) offered to women experiencing an early pregnancy loss. Methods: During a 3-year period (January 2016-December 2018), CVS was offered to women experiencing an early pregnancy loss before the evacuation of the products of conception (POC) to retrieve chorionic villi, irrespective of the number of previous losses. A new molecular work-up was prospectively assayed encompassing a first QF-PCR round (with the 21, 18, 13, 7, X, and Y chromosomes), a second QF-PCR round (with the 15, 16, and 22 chromosomes), and a high resolution SNP-array in those cases with normal QF-PCR results. A control group in which POC were collected after surgical uterine evacuation was used to be compared with the intervention group. Results: Around 459 women were enrolled in the intervention group (CVS) and 185 in the control group (POC after uterine evacuation). The QF-PCR testing success rates were significantly higher in the intervention group (98.5%: 452/459) as compared to the control group (74%: 109/147; p < 0.001), while the chromosomal anomaly rate at the two QF-PCR rounds was similar between the two groups: 52% (234/452) in the intervention and 42% (46/109) in the control group (p = 0.073). The SNP-array was performed in 202 QF-PCR normal samples of the intervention group and revealed 67 (33%) atypical chromosomal anomalies (>10 Mb), 5 (2.5%) submicroscopic pathogenic copy number variants, and 2 (1%) variant of uncertain significance (VOUS). Conclusion: Eighty-two percent of women experiencing an early pregnancy loss opted for a CVS. The testing success rates were higher in the intervention group (CVS; 98%) as compared to the control group (POC; 74%). The overall yields were 52% by QF-PCR (including three complete hydatiform moles), and 16% by SNP-array, including 15% atypical chromosomal anomalies and 1.1% submicroscopic pathogenic copy number variants.

Published
2021

9. EP06.20: Role of next‐generation‐sequencing in the etiological diagnosis of prenatal bilateral renal agenesis.

Author

Borobio, V., Pérez‐Cruz, M., Ars, E., Rodriguez‐Revenga, L., and Borrell, A.

Subjects
*NUCLEOTIDE sequencing, *GENETIC variation, *GENE targeting, *PRENATAL diagnosis, *COUNSELING
Abstract

This article discusses the use of Next Generation Sequencing (NGS) in diagnosing the causes of fetal bilateral renal agenesis (BRA). The study examined seven cases of fetuses with BRA and normal microarray analysis. The results showed that CAKUT gene panels were able to identify the genetic variant in more than half of the isolated cases of BRA, providing valuable information for prenatal counseling. However, as new genes associated with BRA are still being discovered, whole exome sequencing shows promise in diagnosing this condition. [Extracted from the article]

Published
2024
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10. OC06.05: Adequacy of expanded rasopathies panels for fetuses with isolated increased nuchal translucency: an evaluation of gene coverage.

Author

Borrell, A., Pauta, M., Borobio, V., Laura, G., and Rodriguez‐Revenga, L.

Subjects
HYDROPS fetalis, LYSOSOMAL storage diseases, NUCLEOTIDE sequencing, GENETIC variation, GENES
Abstract

This article evaluates the effectiveness of expanded RASopathies Next-Generation Sequencing (NGS) panels in identifying genes associated with isolated increased nuchal translucency (iNT) in fetuses. The study reviews meta-analyses on exome sequencing in fetuses with iNT and cross-references the causative genes identified with their extended RASopathies panel. The results show that 39% of the causative genes identified by exome sequencing were not covered by their expanded panel. This suggests that using an expanded RASopathy panel may result in the oversight of important genes in fetuses with iNT. [Extracted from the article]

Published
2024
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16. Is Cisterna Magna Width a Useful First-Trimester Marker of Aneuploidy?

Author

Pauta M, Grande M, Borobio V, Illanes C, Soler A, Nogué L, and Borrell A

Subjects
Posterior fossa, Cisterna magna, Down syndrome, First-trimester marker, Prenatal diagnosis, Aneuploidy, reproductive and urinary physiology
Abstract

OBJECTIVE: To assess whether the cisterna magna (CM) width measured in first-trimester fetuses is a useful marker for aneuploidy detection. METHODS: This was a prospective study in 2 different cohorts in a tertiary referral center. The first cohort comprised 913 fetuses from the general pregnancy population during the period 2012-2016 and was used to construct the CM reference ranges applying the ?-µ-s (LMS) method. The second cohort included 714 high-risk fetuses undergoing chorionic villus sampling during the period 2012-2016. Mean detection rates using the 95th percentile for CM width observed in chromosomal anomaly groups were compared with those obtained in chromosomally normal fetuses. RESULTS: The 50th percentile for CM ranged from 1.66 to 2.75 mm when crown-rump length (CRL) increased from 45 to 84 mm. Among high-risk fetuses, the following chromosomal anomalies were diagnosed in 125 (17%) fetuses: trisomy 21 (n = 63), trisomy 18 or 13 (n = 21), monosomy X (n = 9), submicroscopic anomalies (n = 11), and other anomalies (n = 22). The mean CM width for euploid fetuses was 2.4 mm (1.13 multiples of the median, MoM). While CM width was significantly increased in trisomy 21 (mean 2.7 mm; 1.23 MoM; p > 0.05), no differences were found in the other anomaly groups. Among the 63 fetuses with trisomy 21, a CM width above the 99th percentile was observed in 23 fetuses (37%). CONCLUSIONS: The new reference range for CM width at 11-13 weeks of gestation did not differ from previous studies. In first-trimester fetuses with trisomy 21, CM width appears to be increased, although its value as an ultrasound marker is limited, because of its detection rate of 37%.

Published
2020

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