Lista de obras - Antoni Borrell - Dominio Público Uruguay

A new comprehensive paradigm for Prenatal Diagnosis

artículo científico publicado en 2018

Abnormal ductus venosus blood flow in trisomy 21 fetuses during early pregnancy

artículo científico publicado en 1998

Abnormal first-trimester ductus venosus blood flow: a marker of cardiac defects in fetuses with normal karyotype and nuchal translucency

artículo científico publicado en 2010

Added value of Chromosomal Microarray Analysis (CMA) over karyotyping in Early Pregnancy Loss - a Systematic Review and Meta-Analysis.

artículo científico publicado en 2017

Added value of chromosomal microarray analysis above conventional karyotyping in stillbirth work-up: a systematic review and meta-analysis

artículo científico publicado en 2019

Adding ductus venosus blood flow as a categorical variable to the Combined and Integrated tests in Down's syndrome screening

artículo científico publicado en 2012

Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011.

artículo científico publicado en 2011

Antral follicle count as a marker of ovarian biological age to reflect the background risk of fetal aneuploidy.

artículo científico publicado en 2014

Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis

artículo científico publicado en 2015

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis ⬇️

artículo científico publicado el 1 de octubre de 2010

Biochemical and Doppler predictors of poor perinatal outcome in a fetus with four umbilical vessels

artículo científico publicado en 1995

Birth defects in medically assisted reproduction pregnancies in the city of Barcelona.

artículo científico publicado en 2014

Blood parameters in fetuses infected with cytomegalovirus according to the severity of brain damage and trimester of pregnancy at cordocentesis

scientific article published on 20 August 2019

Brachycephaly is ineffective for detection of Down syndrome in early midtrimester fetuses

scientific article published on 01 January 1997

Cell-free DNA testing: inadequate implementation of an outstanding technique

artículo científico publicado en 2015

Chorionic villus sampling by biopsy forceps. Results of 1580 procedures from a single centre

scientific article published on 01 June 1995

Chorionic villus sampling in the prenatal diagnosis of placental mesenchymal dysplasia

artículo científico publicado en 2010

Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

artículo científico publicado en 2010

Chromosome abnormalities in peripheral blood lymphocytes from Cebus apella (Cebidae, Platyrrhini) after X-ray irradiation

artículo científico publicado en 1998

Chromosome abnormalities in peripheral blood lymphocytes from Macaca fascicularis and Erythrocebus patas (Cercopithecidae, Catarrhini) after X-ray irradiation

artículo científico publicado en 1998

Cisterna magna width at 11-13 weeks in the detection of posterior fossa anomalies

artículo científico publicado en 2013

Clinical application of midtrimester non-invasive fetal RHD genotyping and identification of RHD variants in a mixed-ethnic population.

artículo científico publicado en 2012

Clinical value of the 11- to 13+6-week sonogram for detection of congenital malformations: a review.

artículo científico publicado en 2010

Combining fetal nuchal fold thickness with second-trimester biochemistry to screen for trisomy 21.

artículo científico publicado en 2007

Contingent screening for Down syndrome completed in the first trimester: a multicenter study

artículo científico publicado en 2012

Corrigendum for Wald NJ, Bestwick JP, Huttly WJ, Aldis J, Borrell A, Goodburn S & Mills I (2018) https://doi.org/10.1002/pd.5381

artículo científico publicado en 2019

Counting ovarian antral follicles by ultrasound: a practical guide

artículo científico publicado en 2017

Cribado de aneuploidía en gestación gemelar: resultados de la aplicación del test combinado

article

Crown-rump length audit plots with the use of operator-specific PAPP-A and β-hCG median MoM.

artículo científico publicado en 2016

Cumulative sum plots and retrospective parameters in first-trimester ductus venosus quality assurance

artículo científico publicado en 2013

Cytogenetic Studies in Fetal Blood ⬇️

artículo científico publicado el 1 de mayo de 1998

Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities

article

Doppler assessment of umbilical flow after genetic amniocentesis

artículo científico publicado en 1996

Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy

artículo científico publicado en 2003

Ductus venosus pulsatility index as an antenatal screening marker for Down's syndrome: use with the Combined and Integrated tests

artículo científico publicado en 2009

Early prenatal diagnosis of major cardiac anomalies in a high-risk population

scientific article published on 01 July 2002

Effectiveness of ovarian age as the background risk for aneuploidy screening in an unselected pregnant population

artículo científico publicado en 2016

Evolution of prenatal detection of neural tube defects in the pregnant population of the city of Barcelona from 1992 to 2006

scientific article published on 24 October 2011

False positives in the prenatal ultrasound screening of fetal structural anomalies

artículo científico publicado en 2007

Fetal Heart Rate and Nuchal Translucency in Detecting Chromosomal Abnormalities Other Than Down Syndrome ⬇️

artículo científico publicado el 1 de julio de 1998

Fetal heart rate patterns in pregnancies with chromosomal disorders or subsequent fetal loss

artículo científico publicado en 1996

First-trimester Down syndrome screening in renal-transplanted pregnant women: a model for adjusting the false-positives rates

artículo científico publicado en 2013

First-trimester biochemical screening for Down syndrome with the use of PAPP-A, AFP, and beta-hCG

scientific article published on 01 May 1996

First-trimester detection of structural abnormalities and the role of aneuploidy markers

scientific article published on 01 February 2012

First-trimester nuchal edema as a marker of aneuploidy

artículo científico publicado en 1995

First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers

artículo científico publicado en 2005

First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study

artículo científico publicado en 2004

First-trimester screening for trisomy 21 in twin pregnancy: does the addition of biochemistry make an improvement?

artículo científico publicado en 2005

First‐trimester detection of major cardiac defects with the use of ductus venosus blood flow ⬇️

artículo científico publicado el 1 de julio de 2013

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

artículo científico publicado en 2010

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

Genetic syndromes associated with isolated fetal growth restriction

scientific article published on 11 January 2020

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study.

artículo científico publicado en 2016

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis

artículo científico publicado en 2015

Heterotrisomy recurrence risk: a practical maternal age-dependent approach for excess trisomy 21 risk calculation after a previous autosomal trisomy.

artículo científico publicado en 2016

Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene

artículo científico publicado en 2021

How to perform an amniocentesis

artículo científico publicado en 2014

Immediate changes in umbilical blood flow after transcervical chorionic villus sampling performed by biopsy forceps

scientific article published on 01 March 1996

Increased nuchal translucency and normal karyotype: perinatal and pediatric outcomes at 2 years of age.

artículo científico publicado en 2012

Increasing detection rates of birth defects by prenatal ultrasound leading to apparent increasing prevalence. Lessons learned from the population-based registry of birth defects of Barcelona.

artículo científico publicado en 2005

Infección congénita por citomegalovirus con una afección ecográfica progresiva y grave

Intertwin crown-rump length discordance in the prediction of fetal anomalies, fetal loss and adverse perinatal outcome.

artículo científico publicado en 2015

Is nuchal translucency a useful aneuploidy marker in fetuses with crown-rump length of 28-44 mm?

artículo científico publicado en 2014

Is the starting section for 3D volume acquisition in the first trimester relevant in the post hoc analysis of aneuploidy screening markers and fetal anatomy?

scientific article published on 26 October 2011

Jugular vein and carotid artery blood flow in fetuses with increased nuchal translucency at 10-14 weeks' gestation

artículo científico publicado en 2003

Likelihood ratios to apply for nasal bone, ductus venosus and tricuspid flow at the 11-13 weeks' scan in down syndrome screening

artículo científico publicado en 2013

Limited Effectiveness of Femur and Humerus Shortening as Markers of Down Syndrome in Early Midtrimester Fetuses ⬇️

artículo científico publicado el 1 de mayo de 1997

Maternal IgM antibody status in confirmed fetal cytomegalovirus infection detected by sonographic signs

artículo científico publicado en 2012

Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies

artículo científico publicado en 2013

Miscarriage in contemporary maternal-fetal medicine: targeting clinical dilemmas

artículo científico publicado en 2013

More chorionic villi obtained at a single center compared to previously published reports

scientific article published on 09 April 2014

Natural evolution of nuchal thickness in trisomy-21 fetuses

scientific article published on 01 January 1998

Nuchal thickness evolution in trisomy 18 fetuses

artículo científico publicado en 2000

Nuchal translucency thickness in the prediction of unbalanced translocations

artículo científico publicado en 2014

Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies

artículo científico publicado en 2017

Performance of middle cerebral artery peak systolic velocity for the prediction of fetal anemia in untransfused and transfused fetuses: a diagnostic test accuracy meta-analysis

artículo científico publicado en 2019

Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.

artículo científico publicado en 2015

Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011.

artículo científico publicado en 2012

Prenatal Diagnosis and Managementof Fetal Xerocytosis Associated with Ascites

artículo científico publicado en 2005

Prenatal diagnosis in human immunodeficiency virus-infected women: a new screening program for chromosomal anomalies

artículo científico publicado en 2006

Prenatal diagnosis of hypoplastic left heart syndrome and trisomy 18 in a fetus with normal nuchal translucency and abnormal ductus venosus blood flow at 13 weeks of gestation.

artículo científico publicado en 2003

Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation

artículo científico publicado en 2009

Prenatal screening for Down syndrome in twin pregnancies: estimates of screening performance based on 61 affected and 7,302 unaffected twin pregnancies

article

Prevalence and perinatal outcome of dichorionic and monochorionic twins with nuchal translucency above the 99thpercentile and normal karyotype

artículo científico publicado en 2010

Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy.

artículo científico publicado en 2009

Rapid fetal karyotype from cystic hygroma and pleural effusions

artículo científico publicado en 1995

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15, and 21 leading to balanced and unbalanced rearrangements in offspring

artículo científico publicado en 2005

Reliability analysis on ductus venosus assessment at 11-14 weeks' gestation in a high-risk population

artículo científico publicado en 2007

Response to "On gestational weeks and maths".

artículo científico publicado en 2013

Reversed end-diastolic flow in first-trimester umbilical artery: an ominous new sign for fetal outcome

scientific article published on 01 July 2001

Role of ovarian reserve markers, antimüllerian hormone and antral follicle count, as aneuploidy markers in ongoing pregnancies and miscarriages

artículo científico publicado en 2015

Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?

artículo científico publicado en 2019

Sonologist's characteristics related to a higher quality in fetal nuchal translucency measured in primary antenatal care centers

artículo científico publicado en 2019

Spina bifida in a 13-week fetus with a normal intracranial translucency

artículo científico publicado en 2011

Successful selective termination at 17 weeks' gestation in monochorionic monoamniotic twin pregnancy affected by twin-twin transfusion syndrome and discordant for hypoplastic left heart syndrome

artículo científico publicado en 2005

The CUSUM test applied in prospective nuchal translucency quality review

artículo científico publicado en 2011

The ductus venosus in early pregnancy and congenital anomalies.

artículo científico publicado en 2004

The effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage

artículo científico publicado en 2012

The influence of the site of Doppler recording on umbilical artery pulsatility index during the first trimester

scientific article published on 01 May 1995

Transcervical chorionic villus sampling in multiple pregnancies using a biopsy forceps

scientific article published on 01 March 2002

Transcervical chorionic villus sampling: a practical guide

scientific article published on 11 June 2015

Treatment with amniopatch of premature rupture of membranes after first-trimester chorionic villus sampling

artículo científico publicado en 2007

Ultrasound diagnostic features of twin reversed arterial perfusion sequence

artículo científico publicado en 1990

Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: prenatal diagnosis in chorionic villi and amniotic fluid

artículo científico publicado en 1993

Updated reference ranges for the ductus venosus pulsatility index at 11-13 weeks.

artículo científico publicado en 2012

Use of fetal nuchal translucency in the first trimester to predict single-gene disorders

article

Vacuum container aspiration as a new technique for genetic amniocentesis

artículo científico publicado en 2008

Lista de obras de Antoni Borrell

A new comprehensive paradigm for Prenatal Diagnosis

Abnormal ductus venosus blood flow in trisomy 21 fetuses during early pregnancy

Abnormal first-trimester ductus venosus blood flow: a marker of cardiac defects in fetuses with normal karyotype and nuchal translucency

Added value of Chromosomal Microarray Analysis (CMA) over karyotyping in Early Pregnancy Loss - a Systematic Review and Meta-Analysis.

Added value of chromosomal microarray analysis above conventional karyotyping in stillbirth work-up: a systematic review and meta-analysis

Adding ductus venosus blood flow as a categorical variable to the Combined and Integrated tests in Down's syndrome screening

Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011.

Antral follicle count as a marker of ovarian biological age to reflect the background risk of fetal aneuploidy.

Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis ⬇️

Biochemical and Doppler predictors of poor perinatal outcome in a fetus with four umbilical vessels

Birth defects in medically assisted reproduction pregnancies in the city of Barcelona.

Blood parameters in fetuses infected with cytomegalovirus according to the severity of brain damage and trimester of pregnancy at cordocentesis

Brachycephaly is ineffective for detection of Down syndrome in early midtrimester fetuses

Cell-free DNA testing: inadequate implementation of an outstanding technique

Chorionic villus sampling by biopsy forceps. Results of 1580 procedures from a single centre

Chorionic villus sampling in the prenatal diagnosis of placental mesenchymal dysplasia

Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

Chromosome abnormalities in peripheral blood lymphocytes from Cebus apella (Cebidae, Platyrrhini) after X-ray irradiation

Chromosome abnormalities in peripheral blood lymphocytes from Macaca fascicularis and Erythrocebus patas (Cercopithecidae, Catarrhini) after X-ray irradiation

Cisterna magna width at 11-13 weeks in the detection of posterior fossa anomalies

Clinical application of midtrimester non-invasive fetal RHD genotyping and identification of RHD variants in a mixed-ethnic population.

Clinical value of the 11- to 13+6-week sonogram for detection of congenital malformations: a review.

Combining fetal nuchal fold thickness with second-trimester biochemistry to screen for trisomy 21.

Contingent screening for Down syndrome completed in the first trimester: a multicenter study

Corrigendum for Wald NJ, Bestwick JP, Huttly WJ, Aldis J, Borrell A, Goodburn S & Mills I (2018) https://doi.org/10.1002/pd.5381

Counting ovarian antral follicles by ultrasound: a practical guide

Cribado de aneuploidía en gestación gemelar: resultados de la aplicación del test combinado

Crown-rump length audit plots with the use of operator-specific PAPP-A and β-hCG median MoM.

Cumulative sum plots and retrospective parameters in first-trimester ductus venosus quality assurance

Cytogenetic Studies in Fetal Blood ⬇️

Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities

Doppler assessment of umbilical flow after genetic amniocentesis

Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy

Ductus venosus pulsatility index as an antenatal screening marker for Down's syndrome: use with the Combined and Integrated tests

Early prenatal diagnosis of major cardiac anomalies in a high-risk population

Effectiveness of ovarian age as the background risk for aneuploidy screening in an unselected pregnant population

Evolution of prenatal detection of neural tube defects in the pregnant population of the city of Barcelona from 1992 to 2006

False positives in the prenatal ultrasound screening of fetal structural anomalies

Fetal Heart Rate and Nuchal Translucency in Detecting Chromosomal Abnormalities Other Than Down Syndrome ⬇️

Fetal heart rate patterns in pregnancies with chromosomal disorders or subsequent fetal loss

First-trimester Down syndrome screening in renal-transplanted pregnant women: a model for adjusting the false-positives rates

First-trimester biochemical screening for Down syndrome with the use of PAPP-A, AFP, and beta-hCG

First-trimester detection of structural abnormalities and the role of aneuploidy markers

First-trimester nuchal edema as a marker of aneuploidy

First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers

First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study

First-trimester screening for trisomy 21 in twin pregnancy: does the addition of biochemistry make an improvement?

First‐trimester detection of major cardiac defects with the use of ductus venosus blood flow ⬇️

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

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

Genetic syndromes associated with isolated fetal growth restriction

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study.

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis

Heterotrisomy recurrence risk: a practical maternal age-dependent approach for excess trisomy 21 risk calculation after a previous autosomal trisomy.

Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene

How to perform an amniocentesis

Immediate changes in umbilical blood flow after transcervical chorionic villus sampling performed by biopsy forceps

Increased nuchal translucency and normal karyotype: perinatal and pediatric outcomes at 2 years of age.

Increasing detection rates of birth defects by prenatal ultrasound leading to apparent increasing prevalence. Lessons learned from the population-based registry of birth defects of Barcelona.

Infección congénita por citomegalovirus con una afección ecográfica progresiva y grave

Intertwin crown-rump length discordance in the prediction of fetal anomalies, fetal loss and adverse perinatal outcome.

Is nuchal translucency a useful aneuploidy marker in fetuses with crown-rump length of 28-44 mm?

Is the starting section for 3D volume acquisition in the first trimester relevant in the post hoc analysis of aneuploidy screening markers and fetal anatomy?

Jugular vein and carotid artery blood flow in fetuses with increased nuchal translucency at 10-14 weeks' gestation

Likelihood ratios to apply for nasal bone, ductus venosus and tricuspid flow at the 11-13 weeks' scan in down syndrome screening

Limited Effectiveness of Femur and Humerus Shortening as Markers of Down Syndrome in Early Midtrimester Fetuses ⬇️

Maternal IgM antibody status in confirmed fetal cytomegalovirus infection detected by sonographic signs

Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies

Miscarriage in contemporary maternal-fetal medicine: targeting clinical dilemmas

More chorionic villi obtained at a single center compared to previously published reports

Natural evolution of nuchal thickness in trisomy-21 fetuses

Nuchal thickness evolution in trisomy 18 fetuses

Nuchal translucency thickness in the prediction of unbalanced translocations

Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies

Performance of middle cerebral artery peak systolic velocity for the prediction of fetal anemia in untransfused and transfused fetuses: a diagnostic test accuracy meta-analysis

Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.

Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011.

Prenatal Diagnosis and Managementof Fetal Xerocytosis Associated with Ascites