A. Borrell
YOU?
Author Swipe
View article: Low-Set Ears: A New Marker of Fetal Chromosomal Anomalies
Low-Set Ears: A New Marker of Fetal Chromosomal Anomalies Open
Introduction: The aim of this study was to assess the clinical utility of low-set ears (LSE) as a novel 2D-ultrasound marker for the prenatal detection of chromosomal anomalies. Methods: A multicenter cohort study including 1,331 singleton…
View article: Efficacy of Fetal Ear Length as a Prenatal Marker of Chromosomal Anomalies: A Prospective, Multicenter Cohort Study in a Southern European Population
Efficacy of Fetal Ear Length as a Prenatal Marker of Chromosomal Anomalies: A Prospective, Multicenter Cohort Study in a Southern European Population Open
Objective To develop a nomogram of fetal ear length (FEL) by gestational age in a healthy pregnant Southern European population and assess its potential as a prenatal ultrasound marker of chromosomal anomalies in this demographic. Methods …
View article: Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data
Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data Open
Objectives To evaluate: (i) the performance of the National Health Service (NHS) phenotypic eligibility criteria for prenatal exome sequencing (pES); (ii) the diagnostic yield of individual NHS criteria; (iii) the diagnostic yield when one…
View article: Genome‐Wide Cell‐Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta‐Analysis
Genome‐Wide Cell‐Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta‐Analysis Open
Objective To conduct a systematic review and meta‐analysis of published series examining the efficacy of genome‐wide cell‐free DNA (cfDNA) testing in identifying aneuploidy in pregnancies ending in miscarriage. Methods A systematic review …
View article: Fetal Growth Chart in Twins Consistent with The FMF Growth Curve:Prospective Multicenter Study
Fetal Growth Chart in Twins Consistent with The FMF Growth Curve:Prospective Multicenter Study Open
Objectives: Different retrospective growth charts for twin pregnancies debates whether twin growth is similar to singletons. Recently, the fetal medicine foundation (FMF) published a retrospective fetal growth chart that indicated similar …
View article: The Pre-Twin Screen Consortium proposal for fetal structural anomalies evaluation across all three trimesters in twin pregnancies
The Pre-Twin Screen Consortium proposal for fetal structural anomalies evaluation across all three trimesters in twin pregnancies Open
Purpose In singleton pregnancies, routine ultrasound examinations in each trimester improves the diagnosis of fetal abnormalities and their management. In this study, we examine twin pregnancies and report on the detection of fetal anomali…
View article: Psychological Impact in Early Pregnancy Loss: The Effects of Disclosing the Causative Chromosomal Anomaly
Psychological Impact in Early Pregnancy Loss: The Effects of Disclosing the Causative Chromosomal Anomaly Open
Introduction: The study investigated whether the disclosure of the chromosomal anomaly causing early pregnancy loss (EPL) favors the grief process and reduces psychological distress. Methods: Women experiencing EPL were invited to particip…
View article: Fetal Corpus Callosum Anomalies
Fetal Corpus Callosum Anomalies Open
Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy…
View article: Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis
Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis Open
Introduction: Arhinencephaly have been identified as a significant feature in CHARGE syndrome. This study aimed to evaluate the diagnostic role of olfactory sulci (OS) in identifying CHARGE syndrome among fetuses with major congenital hear…
View article: Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women
Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women Open
Background/Objectives: Cell-free DNA (cfDNA) is a non-invasive prenatal test used to screen for common trisomies (target cfDNA) that can be expanded to assess all autosomal chromosomes (genome-wide cfDNA). As cfDNA testing gains popularity…
View article: Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis Open
Objective This document addresses the clinical application of next-generation sequencing (NGS) technologies for prenatal genetic diagnosis and aims to establish clinical practice recommendations in Spain to ensure uniformity in implementin…
View article: Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies
Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies Open
Objective To evaluate the performance of prenatal screening for common autosomal trisomies in twin pregnancies through the use of rolling‐circle replication (RCR)‐cfDNA as a first‐tier test. Method Prospective multicenter study. Women who …
View article: Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings
Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings Open
Objectives: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnanc…
View article: A novel <i>NONO</i> nonsense variant in a fetus with renal abnormalities
A novel <i>NONO</i> nonsense variant in a fetus with renal abnormalities Open
At 16 + 6‐weeks a fetal scan performed in the second pregnancy of a 42 y.o. woman identified a right multicystic dysplastic kidney, left renal agenesis, absent urinary bladder, myocardial hypertrophy, increased nuchal fold, a single umbili…
View article: Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis Open
Objectives Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G‐banding karyotype in fetuses with central nervous system (CNS) abnormalities. Methods Data were collected via el…
View article: OC05.08: Placental and genomic origins of fetal growth restriction are independent and may overlap: a plea for a reappraisal
OC05.08: Placental and genomic origins of fetal growth restriction are independent and may overlap: a plea for a reappraisal Open
Objectives: To determine whether placental insufficiency may coexist with genetic disorders in fetal growth restriction (FGR).Methods: We reviewed the literature on FGR associated with genetic disorders and cases were divided into 3 types:…
View article: OP05.02: Postnatal genetic and neurodevelopmental assessment in non‐placental severely small‐for‐gestational‐age infants born at term
OP05.02: Postnatal genetic and neurodevelopmental assessment in non‐placental severely small‐for‐gestational‐age infants born at term Open
To assess the frequency of genetic syndromes and childhood neurodevelopmental impairment in non-malformed term infants with severely low birthweight and no evidence of placental insufficiency. This case series was constructed of infants de…
View article: Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta‐analysis
Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta‐analysis Open
The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). This was a systematic review c…
View article: Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non‐placental origin
Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non‐placental origin Open
Objective To determine the frequency of genetic syndromes and childhood neurodevelopmental impairment in non‐malformed infants born at term with severely low birth weight and no evidence of placental insufficiency. Methods This case series…
View article: Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review Open
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and dev…
View article: Editorial: Emerging New Tests and Their Impact Upon the Practice of Reproductive Genetics
Editorial: Emerging New Tests and Their Impact Upon the Practice of Reproductive Genetics Open
There has been a geometric explosion in genetic capabilities such that currently a wide variety of prenatal screening and diagnostic testing for fetal chromosomal abnormalities are available. Ideally, all woman should be counseled in each …
View article: Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis Open
To determine the diagnostic yield of exome sequencing (ES), a microarray analysis was carried out of fetuses with recurrent fetal structural anomalies (with similar anomalies in consecutive pregnancies). This is a systematic review conduct…
View article: VP25.06: Practice patterns amongst fetal centres performing intrauterine transfusions: an international survey study
VP25.06: Practice patterns amongst fetal centres performing intrauterine transfusions: an international survey study Open
Fetal anemia secondary to incompatibility between fetal and maternal blood types can result in hydrops and demise. Intrauterine transfusions (IUT) have been performed successfully either by intraperitoneal, intravenous or a combination of …
View article: The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole
The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole Open
Objective: the aim of our study was to assess the contribution of quantitative fluorescent polymerase chain reaction (QF-PCR) and pathology studies in the diagnosis of diandric triploidies/partial hydatidiform moles. Methods: this study in…
View article: Perinatal outcome after selective termination in dichorionic twins discordant for congenital anomalies
Perinatal outcome after selective termination in dichorionic twins discordant for congenital anomalies Open
Introduction Our objective was to evaluate the perinatal outcome of selective termination of dichorionic twin pregnancies with discordant anomalies, according to gestational age at time of procedure. Material and methods Retrospective revi…