List of works - Antoni Borrell

A new comprehensive paradigm for Prenatal Diagnosis

scientific article published on 26 February 2018

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

scientific article published on 01 December 1998

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

scientific article published on 01 March 2010

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

scientific article

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

scientific article published on 01 May 2019

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

scientific article published on 22 February 2012

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

scientific article published in June 2011

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

scientific article published on 27 March 2014

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

scientific article

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

scientific article published on October 1, 2010

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

scientific article published on 01 September 1995

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

scientific article published on 6 February 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

scientific article published on 01 May 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

scientific article published on 01 November 2010

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

scientific article published on 31 May 2010

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

scientific article published on 01 June 1998

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

scientific article published on 01 July 1998

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

scientific article published on 11 April 2013

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

scientific article published on 20 December 2012

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

scientific article published on 10 August 2010

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

scientific article published in December 2007

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

scientific article published on 01 April 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

scientific article published on 01 May 2019

Counting ovarian antral follicles by ultrasound: a practical guide

scientific article published on 28 October 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.

scientific article published on 22 December 2016

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

scientific article published on 14 March 2013

Cytogenetic Studies in Fetal Blood ⬇️

scientific article published on May 1, 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

scientific article published on 01 February 1996

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

scientific article published on 01 November 2003

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

scientific article published on 01 January 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

scientific article published on 26 July 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

scientific article published on 01 January 2007

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

scientific article published on 01 July 1998

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

scientific article

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

scientific article

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

scientific article published on 01 January 1995

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

scientific article published on 01 October 2005

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

scientific article

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

scientific article published on 01 December 2005

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

scientific article published on 16 June 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.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 07 January 2021

How to perform an amniocentesis

scientific article published on 01 December 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.

scientific article published in January 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.

scientific article published in November 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.

scientific article published on 15 October 2015

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

scientific article published on 01 April 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

scientific article published on 01 November 2003

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

scientific article published on 27 June 2013

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

scientific article published on 01 May 1997

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

scientific article published on 27 May 2012

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

scientific article

Miscarriage in contemporary maternal-fetal medicine: targeting clinical dilemmas

scientific article published on 01 November 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

scientific article published on 01 August 2000

Nuchal translucency thickness in the prediction of unbalanced translocations

scientific article published on 11 June 2014

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

scientific article published on 5 October 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

scientific article published on 01 December 2019

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

scientific article published on 4 June 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.

scientific article

Prenatal Diagnosis and Managementof Fetal Xerocytosis Associated with Ascites

scientific article published in 2005

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

scientific article

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.

scientific article

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

scientific article published on 01 December 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

scientific article published on 01 January 2010

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

scientific article published on January 2009

Rapid fetal karyotype from cystic hygroma and pleural effusions

scientific article published on 01 February 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

scientific article published on 01 April 2005

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

scientific article

Response to "On gestational weeks and maths".

scientific article published in December 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

scientific article published on 18 March 2015

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

scientific article published on 13 July 2019

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

scientific article published on 16 July 2019

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

scientific article published on 29 July 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

scientific article published in 2005

The CUSUM test applied in prospective nuchal translucency quality review

scientific article published on May 2011

The ductus venosus in early pregnancy and congenital anomalies.

scientific article published in September 2004

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

scientific article

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

scientific article published in 2007

Ultrasound diagnostic features of twin reversed arterial perfusion sequence

scientific article published on 01 July 1990

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

scientific article published on 01 February 1993

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

scientific article

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

scientific article published on 01 October 2008

List of works by 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?

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

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