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Abnormal nuchal translucency followed by normal microarray analysis is associated with placental pathology‐related complications Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-05 Eyal Krispin; Anya Kushnir; Asaf Shemer; Shlomit Rienstein; Michal Berkenstadt; Yoav Yinon; Boaz Weisz
Identify placental pathology‐related complications, labor and neonatal outcomes in pregnancies complicated by pathological nuchal translucency (NT) with normal microarray analysis.
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Feasibility study of using unbalanced embryos as a reference to distinguish euploid carrier from noncarrier embryos by single nucleotide polymorphism array for reciprocal translocations Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-07 Rong Li; Jing Wang; Ailing Gu; Yan Xu; Jing Guo; Jiafu Pan; Yanhong Zeng; Yuanlin Ma; Canquan Zhou; Yanwen Xu
To study the feasibility of using unbalanced embryos as a reference in distinguishing euploid carrier and noncarrier embryos by single nucleotide polymorphism (SNP) array‐based preimplantation genetic testing (PGT) for reciprocal translocations.
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Missed connections: Recombination and human aneuploidy Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-23 Terry J. Hassold; Patricia A. Hunt
The physical exchange of DNA between homologs, crossing‐over, is essential to orchestrate the unique, reductional first meiotic division (MI). In females, the events of meiotic recombination that serve to tether homologs and facilitate their disjunction at MI occur during fetal development, preceding the MI division by several decades in our species. Data from studies in humans and mice demonstrate
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The prognosis of common arterial trunk from a fetal perspective: a prenatal cohort study and systematic literature review Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-22 Amber E.L. van Nisselrooij; Lotta Herling; Sally‐Ann Clur; Ingeborg H. Linskens; Eva Pajkrt; Lukas A. Rammeloo; Arend D.J. ten Harkel; Mark G. Hazekamp; Nico A. Blom; Monique C. Haak
The limited number of large fetal cohort studies on common arterial trunk (CAT) impedes prenatal counselling at mid‐gestation. This study evaluates the prognosis of CAT from a fetal perspective.
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Evaluation of the Z‐score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-21 Wan Junhui; Li Ru; Yu Qiuxia; Wang Dan; Sun Xiuhong; Zhang Yongling; Jing Xiangyi; Li Fatao; Tang Xuewei; Chen Guilan; Jiang Fan; Li Fucheng; Fu Fang; Li Yan; Zhang Lina; Yi Cuixing; Li Jian; Li Dongzhi; Liao Can
To assess the correlation between Z‐scores of positive NIPT results and the positive predictive value (PPV) of non‐invasive prenatal testing (NIPT).
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INTERPEDUNCULAR ANGLE: A NEW PARAMETER FOR ASSESSING INTRACRANIAL HYPOTENSION IN FETUSES WITH SPINAL DYSRAPHISM Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-21 Francisco Sepulveda; Frank Quezada; Francisca Montoya; Waldo Sepulveda
To investigate the role of the interpeduncular angle (IPA) as a new indicator of intracranial hypotension in fetuses with open spinal dysraphism (SD).
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Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β‐thalassemia by a novel method of noninvasive prenatal testing Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-19 Lin Yang; Yujing Wu; Zhiyang Hu; Haiping Zhang; Dandan Pu; Huijuan Yan; Sijia Zhang; Hui Jiang; Qiang Liu; Yuying Yuan; Yanyan Zhang; Fang Chen; Yanping Lu; Silin Pan; Linhua Lin; Ya Gao
The aim is to develop a novel noninvasive prenatal testing (NIPT) method that simultaneously performs fetal aneuploidy screening and the detection of de novo and paternally derived mutations.
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Patient attitudes towards prenatal diagnostic testing during antenatal care in an urban population Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-20 Catherine M. IGEL; Sara RABIN‐HAVT; Fatima ESTRADA TREJO; Georgios DOULAVERIS; Ruth EISENBERG; Melissa FAZZARI; Susan KLUGMAN
Investigate factors that influence the decision to accept or decline diagnostic testing for pregnant women referred for genetic counseling
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Increased RISK for 47,XXY on cell‐free DNA screen: Not always Klinefelter syndrome Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-28 Luisa Ronzoni; Maria Francesca Bedeschi; Gaia Silibello; Veronica Accurti; Marina Di Segni; Valeria Nicotra; Paola Vizziello; Faustina Lalatta
What's already known about this topic?
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Late Gestation Predictors of a Postnatal Biventricular Circulation after Fetal Aortic Valvuloplasty Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-18 Meaghan J. Beattie; Kevin G. Friedman; Lynn A. Sleeper; Minmin Lu; Monika Drogosz; Ryan Callahan; Audrey C. Marshall; Aaron R. Prosnitz; Terra Lafranchi; Carol B. Benson; Louise E. Wilkins‐Haug; Wayne Tworetzky
Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on late gestation echocardiography will improve parental counseling.
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Artificial intelligence, fetal echocardiography, and congenital heart disease Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-18 Thomas G Day; Bernhard Kainz; Jo Hajnal; Reza Razavi; John M Simpson
There has been a recent explosion in the use of artificial intelligence (AI), which is now part of our everyday lives. Uptake in medicine has been more limited, although in several fields there have been encouraging results showing excellent performance when AI is used to assist in a well‐defined medical task. Most of this work has been performed using retrospective data, and there have been few clinical
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Machine Learning Improves Early Prediction of Small‐for‐Gestational‐Age Births and Reveals Nuchal Fold Thickness as Unexpected Predictor Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-18 Shier Nee SAW; Arijit BISWAS; Citra Nurfarah Zaini MATTAR; Hwee Kuan LEE; Choon Hwai YAP
To investigate the performance of the machine learning (ML) model in predicting small‐for‐gestational‐age (SGA) at birth, using second‐trimester data.
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Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At‐Risk Carrier Couples Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-15 Aishwarya Arjunan; CGC; Raul Torres; Anna Gardiner; Kristjan Eerik Kaseniit; Jeff Wootton; Rotem Ben‐Shachar; Katherine Johansen Taber
To evaluate the efficacy of three different carrier screening workflows designed to identify couples at risk for having offspring with autosomal recessive conditions.
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A unique brain germinal matrix involvement in CMV infected fetuses: A retrospective neurosonographic analysis with outcome correlation Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-13 Roee Birnbaum; Adi Winsteen; Michael Brusilov; Igal Wolman; Liat Ben‐Sira; Gustavo Malinger; Karina Krajden Haratz
To study the clinical significance of brain germinal matrix (GM) changes in CMV infected fetuses.
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Non‐invasive screening for congenital heart defects using a serum metabolomics approach Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-13 Jacopo TROISI; Pierpaolo CAVALLO; Sean RICHARDS; Steven SYMES; Angelo COLUCCI; Laura SARNO; Annamaria LANDOLFI; Giovanni SCALA; David ADAIR; Carla CICCONE; Giuseppe Maria MARUOTTI; Pasquale MARTINELLI; Maurizio GUIDA
Heart anomalies represent nearly one‐third of all congenital anomalies. They are currently diagnosed using ultrasound. However, there is a strong need for a more accurate and less operator‐dependent screening method. Here we report a metabolomics characterization of maternal serum in order to describe a metabolomic fingerprint representative of heart congenital anomalies.
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Omphalocele‐ What should we tell the prospective parents? Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-13 April D. Adams; Samantha Stover; Martha W. Rac
An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of the umbilical cord. Other anatomic abnormalities are seen in ∼50% of cases, most notably cardiac defects (19‐32%). Approximately 50% of cases are associated with
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Genome‐wide abnormalities in embryos: origins and clinical consequences Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-13 Heleen Masset; Olga Tšuiko; Joris Robert Vermeesch
Ploidy or genome‐wide chromosomal anomalies such as triploidy, diploid/triploid mixoploidy, chimerism and genome‐wide uniparental disomy are the cause of molar pregnancies, embryonic lethality and developmental disorders. While triploidy and genome‐wide uniparental disomy can be ascribed to fertilization or meiotic errors, the mechanisms causing mixoploidy and chimerism remain shrouded in mystery.
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Temporal persistence of residual fetal cell‐free DNA from a deceased co‐twin after selective fetal reduction in dichorionic diamniotic twin pregnancies Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-13 Min Chen; Fengxia Su; Jiayan Wang; Lijun Zhou; Qiang Liu; Xianghua Chai; Yuying Yuan; Miaolan Cen; Yujing Wu; Yicong Wang; Fang Chen; Yanyan Zhang; Dunjin Chen; Ya Gao
To determine the temporal persistence of the residual cell‐free DNA (cfDNA) of the deceased co‐twin in maternal circulation after selective fetal reduction and evaluate its long persistence in noninvasive prenatal testing (NIPT).
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Enrichment of circulating trophoblasts from maternal blood using laminar microscale vortices Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-12 Ann‐Sophie Vander Plaetsen; Jana Weymaere; Olivier Tytgat; Magaly Buyle; Dieter Deforce; Filip Van Nieuwerburgh
Enrichment of circulating trophoblasts (CTs) from maternal blood at week 10 – 13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX‐1 Liquid Biopsy System in terms of CT recovery and purity.
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Preclinical stem cell therapy in fetuses with myelomeningocele: A systematic review and meta‐analysis Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-18 Yada Kunpalin; Sindhu Subramaniam; Silvia Perin; Mattia F. M. Gerli; Jan Bosteels; Sebastien Ourselin; Jan Deprest; Paolo De Coppi; Anna L. David
We performed a systematic review to summarize the efficacy and safety of in utero stem cells application in preclinical models with myelomeningocele (MMC).
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Extracardiac Doppler indices predict perinatal mortality in fetuses with Ebstein anomaly and tricuspid valve dysplasia Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-26 Shuo Wang; Lindsay R. Freud; Jon Detterich; Anita J. Moon‐Grady; Mary T. Donofrio; Edgar T. Jaeggi; Anita L. Szwast; Shaine A. Morris; Ann Kavanaugh‐Mchugh; Lisa W. Howley; Mary E. van der Velde; Bettina F. Cuneo; Colin K. Phoon; Wayne Tworetzky; Jay D. Pruetz
Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) carry high perinatal mortality. Past studies have focused on cardiac predictors of mortality; we sought to describe the fetal echo (FE) extracardiac Dopplers in this cohort and determine their association with perinatal mortality.
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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-18 Elizabeth L. Digby; Jessica Liauw; Janis Dionne; Sylvie Langlois; Sarah M. Nikkel
To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK).
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Fetal gastroschisis: Maternal and fetal methylation profile Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-17 Amanda Brasil de Freitas; Rossana Pulcineli Vieira Francisco; Sandra Frankfurt Centofanti; Jullian Gabriel Damasceno; Samar Nasser Chehimi; Gilmar de Souza Osmundo Junior; Leslie Domenici Kulikowski; Maria de Lourdes Brizot
The purpose of this study was to describe the genomic deoxyribonucleic acid (DNA) methylation profile in fetuses with gastroschisis, determine whether the profile was inherited, and investigate any possible correlations with maternal risk factors.
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Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-22 Laure Macraigne; Bichr Allaf; Christophe Buffat; Emmanuel Spaggiari; Georges Dimitrov; Alexandre Fabre; Jonathan Rosenblatt; Sophie Dreux
Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios, leading to premature delivery. Affected neonates present with watery stools, sometimes mistaken as urine, leading to a
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Perinatal Characteristics and Early Childhood Follow up after Ex‐Utero Intrapartum Treatment for Head and Neck Teratomas by Prenatal Diagnosis Prenat. Diagn. (IF 2.425) Pub Date : 2021-01-01 Alireza A. Shamshirsaz; Soroush Aalipour; Kelsey A. Stewart; Ahmed A. Nassr; Betul Yilmaz; Hadi Erfani x; Nathan C. Sundgren; Magdalena Sanz Cortes; Roopali Varma Donepudi; Timothy C. Lee; Deepak K. Mehta; Elizabeth Skye Kravitz; Nazli Meshinchi Asl; Jimmy Espinoza; Michael A. Belfort
Ex Utero Intrapartum Treatment (EXIT) is utilized for safe delivery when a baby has a compromised airway. The purpose of this retrospective study was to examine the indications and outcomes of 11 children presenting with airway occluding oropharyngeal and cervical teratomas.
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The intra‐hepatic umbilical‐Porto‐systemic venous shunt and fetal growth Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-19 Zvi Kivilevitch; Eran Kassif; Yinon Gilboa; Tal Weisbuch; Reuven Achiron
The fetal liver circulation has an important role in fetal growth. The intra‐hepatic Umbilical‐Porto‐Systemic Venous Shunt (IHUPSVS) causes a reduction of the umbilical blood flow to the liver and has been reported to have a restrictive effect on fetal growth. The aim of this study was to evaluate the effect of IHUPSVS on fetal growth.
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Prenatal array comparative genomic hybridization in a well‐defined cohort of high‐risk pregnancies. A 3‐year implementation results in a public tertiary academic referral hospital Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-19 Laura M. Tanner; Tiina Alitalo; Vedran Stefanovic
To find out whether the diagnostic yield of prenatal array comparative genomic hybridization (aCGH) can be improved by targeting preselected high‐risk pregnancies.
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Trends in prenatal diagnosis: An analysis of 40 years of Medical Subject Heading (MeSH) terms in publications Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-22 Ya‐Ling Lu; Diana W. Bianchi
To understand the evolution of the field of prenatal diagnosis over the past four decades.
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Editorial January issue 2021 A new decade, fond farewells and a new era for Prenatal Diagnosis Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-23 Lyn Chitty
This month heralds a new decade and we must all hope that it brings better things than those we experienced in the last year of the old decade! It also brings a new era for Prenatal Diagnosis as we said goodbye to our editor‐in‐chief, Diana Bianchi, after 13 years at the helm. Diana has handed the baton to me and I will do my best to continue to deliver the high standards that Diana has set, but she
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What should we tell parents? Congenital diaphragmatic hernia Prenat. Diagn. (IF 2.425) Pub Date : 2020-12-17 Francesca M Russo; Anne Debeer; Paolo De Coppi; Koenraad Devriendt; Neeltje Crombag; Talia Hubble; Beverley Power; Alexandra Benachi; Jan Deprest
Congenital diaphragmatic hernia (CDH) is characterized by a defect in the muscle dividing the thoracic and abdominal cavities. This leads to herniation of the abdominal organs into the thorax and a disturbance of lung development. Two thirds of cases are identified by prenatal ultrasound in the second trimester, which should prompt referral to a tertiary center for prognosis assessment and counseling
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Biometric assessments of the posterior fossa by fetal MRI: A systematic review Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-29 Katie Mckinnon; Giles S. Kendall; Cally J. Tann; Leigh Dyet; Magdalena Sokolska; Kelly Pegoretti Baruteau; Neil Marlow; Nicola J. Robertson; Donald Peebles; Latha Srinivasan
Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predominantly used to differentiate PFAs.
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Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-29 Simon Horsholt Thomsen; Ida Charlotte Bay Lund; Christina Fagerberg; Iben Bache; Naja Becher; Ida Vogel
To evaluate the risk of fetal involvement when trisomy 8 mosaicism (T8M) is detected in chorionic villus samples (CVS).
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Fetal teratomas – A retrospective observational single‐center study Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-26 Corinna Simonini; Brigitte Strizek; Christoph Berg; Ulrich Gembruch; Andreas Mueller; Andreas Heydweiller; Annegret Geipel
Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal teratomas of various locations in a single center between 2002 and 2019.
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Fetal dural sinus thrombosis: A systematic review Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-21 Adalina Sacco; Deepika Pannu; Fred Ushakov; Leigh Dyet; Pranav Pandya
Fetal dural sinus thrombosis (DST) is a rare condition. Although numerous case reports exist, the findings appear heterogenous and providing accurate patient counselling remains challenging.
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Outcomes following the detection of fetal edema in early pregnancy prior to non‐invasive prenatal testing Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-17 Jayshree Ramkrishna; Melody Menezes; Kedar Humnabadkar; Cheryl Tse; Maria J. Maxfield; Fabricio da Silva Costa; Daniel L. Rolnik; Simon Meagher
To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non‐invasive prenatal testing (NIPT).
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Applications of noninvasive prenatal testing in vanishing twin syndrome pregnancies after treatment of assisted reproductive technology in a single center Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-02 Yang Zou; Linlin Cui; Mengyang Xue; Junhao Yan; Miao Huang; Ming Gao; Xuan Gao; Yuan Gao; Zi‐Jiang Chen
The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART).
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Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11–14 week's gestation Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-21 Cindy Kao; Julie Lauzon; Marie‐Anne Brundler; Selphee Tang; David Somerset
To evaluate aneuploidy rate, prognostic factors, and perinatal outcomes following a diagnosis of fetal megacystis at 11–14 week's gestation.
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Fetal neurodevelopmental recovery in donors after laser surgery for twin‐twin transfusion syndrome Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-16 Vidya Rajagopalan; Karam Ashouri; Arlyn Llanes; Douglas L. Vanderbilt; Natasha Lepore; Stefan Bluml; Hollie A. Lai; Jessica Wisnowski; Andrew H. Chon; Ramen H. Chmait
Fetal magnetic resonance imaging (MRI) and spectroscopy (MRS) provide a unique opportunity to non‐invasively measure markers of neurodevelopment in survivors of twin‐twin transfusion syndrome (TTTS).
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Impact of mosaicism ratio on positive predictive value of cfDNA screening Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-05 Jill M. Rafalko; Samantha Caldwell; John Tynan; Eyad Almasri; Vivian Weinblatt; Ron McCullough
To examine the relationship between the fraction of cell‐free DNA (cfDNA) affected by aneuploidy compared to the overall fetal fraction of a prenatal screening specimen and its effect on positive predictive value (PPV).
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Evaluation of cardiac function in the recipient twin in successfully treated twin‐to‐twin transfusion syndrome using a novel fetal speckle‐tracking analysis Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-05 Anna L. Harbison; Jay D. Pruetz; Stephen Ma; Mark S. Sklansky; Ramen H. Chmait; Greggory R. DeVore
This study was designed to evaluate ventricular size, shape, and function in recipient twins following laser therapy for twin‐twin transfusion syndrome (TTTS), using novel speckle‐tracking techniques.
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RASopathies: A significant cause of polyhydramnios? Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-04 Rachel Mangels; Yair J. Blumenfeld; Margaret Homeyer; Barbora Mrazek‐Pugh; Susan R. Hintz; Louanne Hudgins
The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation.
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Socioeconomic barriers to prenatal diagnosis of critical congenital heart disease Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-10 Matthew J. Campbell; Scott Lorch; Jack Rychik; Michael D. Quartermain; Molly Passarella; Peter W. Groeneveld
The study was designed to assess the impact of socioeconomic barriers on the rate of prenatal diagnosis of critical congenital heart disease (CCHD).
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International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-05 Glenn E. Palomaki; Rossa W.K. Chiu; Mark D. Pertile; Erik A. Sistermans; Yuval Yaron; Joris Robert Vermeesch; Neeta L. Vora; Robert G. Best; Louise Wilkins‐Haug
1 INTRODUCTION/AIMS The aim of this Position Statement from the International Society for Prenatal Diagnosis (ISPD) is to review the relevant published literature and make evidence‐based recommendations regarding screening twin and triplet pregnancies for Down syndrome via cell free (cf)DNA testing. This Position Statement should not be taken to be an endorsement that cfDNA is the optimal choice for
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Cell‐based non‐invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-04 Line Dahl Jeppesen; Lotte Hatt; Ripudaman Singh; Katarina Ravn; Mathias Kølvraa; Palle Schelde; Niels Uldbjerg; Ida Vogel; Dorte L. Lildballe
We aimed to develop cell‐based NIPT for cystic fibrosis (CF) and test a pregnancy at risk of two common pathogenic variants.
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Performance of first trimester screening for Trisomy 21 in twin pregnancies Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-31 Eva Bergstrand; Caroline Borregaard Miltoft; Ann Tabor
To assess the performance of the Danish first trimester screening program in twin pregnancies.
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Uniparental disomy: Origin, frequency, and clinical significance Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-11 Peter Benn
Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent. There can be multiple mechanisms that lead to UPD; these are reviewed in the context of contemporary views on the mechanism leading to aneuploidy. Recent studies indicate that UPD is rare in an apparently healthy population and also rare in spontaneous abortion tissues. The most common type of UPD
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Prenatal assessment of congenital diaphragmatic hernia at north american fetal therapy network centers: A continued plea for standardization Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-30 Erin E. Perrone; Nimrah Abbasi; Magdalena Sanz Cortes; Uzma Umar; Greg Ryan; Anthony Johnson; Maria Ladino‐Torres; Rodrigo Ruano;
Prenatal work‐up for congenital diaphragmatic hernia (CDH) is important for risk stratification, standardization, counseling, and optimal therapeutic choice. To determine current practice patterns regarding prenatal CDH work‐up, including prenatal ultrasound and magnetic resonance imaging (MRI) use, and to identify areas for standardization of such evaluation between fetal centers.
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Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-31 Talya Millo; Liza Douiev; Dov Popper; Shiri Shkedi‐Rafid
Chromosomal‐microarray‐analysis (CMA) can identify variants of uncertain clinical significance, susceptibility‐loci for neurodevelopmental conditions, and risk for adult‐onset conditions. We explored choices made by couples undergoing prenatal CMA, their understanding of these findings, reasons for and against receiving them, and whether they believe parents or professionals should decide which are
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Fetal mitochondrial DNA in maternal plasma in surrogate pregnancies: Detection and topology Prenat. Diagn. (IF 2.425) Pub Date : 2020-11-02 Mary‐Jane L. Ma; Sergey Yakovenko; Haiqiang Zhang; Suk Hang Cheng; Valentina Apryshko; Alex Zhavoronkov; Peiyong Jiang; K. C. Allen Chan; Rossa W. K. Chiu; Y. M. Dennis Lo
Due to the maternally‐inherited nature of mitochondrial DNA (mtDNA), there is a lack of information regarding fetal mtDNA in the plasma of pregnant women. We aim to explore the presence and topologic forms of circulating fetal and maternal mtDNA molecules in surrogate pregnancies.
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Discussing non‐invasive prenatal testing on Reddit: The benefits, the concerns, and the comradery Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-15 Alessandro R. Marcon; Vardit Ravitsky; Timothy Caulfield
As the use of non‐invasive prenatal testing (NIPT) increases, its benefits and concerns are being examined through surveys, qualitative studies, and bioethical analysis. However, only scant research has examined public discourse on the topic. This research examined NIPT discussions on the social media platform Reddit.
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The TOTAL trial dilemma: A survey among professionals on equipoise regarding fetal therapy for severe congenital diaphragmatic hernia Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-19 Simen Vergote; Daniel Pizzolato; Francesca Russo; Kris Dierickx; Jan Deprest; Neeltje Crombag
Running randomized clinical trials (RCT) in fetal therapy is challenging. This is no different for fetoscopic endoluminal tracheal occlusion (FETO) for severe left‐sided Congenital Diaphragmatic Hernia (CDH). We assessed the knowledge, attitude and practice (KAP) of maternal‐fetal medicine specialists toward the antenatal management of CDH, and the randomized controlled clinical (RCT) “Tracheal Occlusion
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Band neutrophil sign: A strong first‐trimester ultrasound marker of combined duodenal and esophageal atresia Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-17 Olga Ivanitskaya; Natalia Odegova; Nikolay Shchapov; Yulia Tsayuk
To reveal a first‐trimester sonographic marker associated with combined duodenal and esophageal atresia (DA and EA).
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Dimensionless squared jerk: An objective differential to assess experienced and novice probe movement in obstetric ultrasound Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-26 Brian P Dromey; Shahanaz Ahmed; Francisco Vasconcelos; Evangelos Mazomenos; Yada Kunpalin; Sebastien Ourselin; Jan Deprest; Anna L David; Danail Stoyanov; Donald M Peebles
Widely accepted, validated and objective measures of ultrasound competency have not been established for clinical practice. Outcomes of training curricula are often based on arbitrary thresholds, such as the number of clinical cases completed. We aimed to define metrics against which competency could be measured.
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Ultrasound detected prenatal hyperechoic lung lesions and concordance with postnatal findings: A common aspect for multiple diagnoses Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-27 Michela Cing Yu Wong; Valentine Faure Bardon; Konstantinos Farmakis; Laureline Berteloot; Alexandre Lapillonne; Christophe Delacourt; Sabine Sarnacki; Yves Ville; Naziha Khen‐Dunlop
Hyperechoic lung lesions are largely detected prenatally but their underlying etiology is still poorly defined. The aim of the study was to determine the concordance between pre and postnatal diagnosis of hyperechoic lung lesions.
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Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-31 Peyton B. Nunley; Syed S. Hashmi; Anthony Johnson; Myla Ashfaq; Laura S. Farach; Claire N. Singletary; Blair K. Stevens
To determine the yield of prenatal testing and screening options after identification of fetal structural abnormalities using a novel mathematical model.
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Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18 Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-20 Ellen Hollands Steffensen; Jonathan Hyett; Olav Bjørn Petersen; Ida Vogel;
To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first‐trimester screening (cFTS) for the trisomies in Denmark in 2004.
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Selective serotonin reuptake inhibitor or serotonin‐norepinephrine reuptake inhibitors and epidemiological characteristics associated with prenatal diagnosis of congenital heart disease Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-17 Sarah J. Melov; Prayatna Singh Shetty; Dharmintra Pasupathy; Adrienne Kirby; Gary F. Sholler; David S. Winlaw; Thushari I. Alahakoon
Identify early pregnancy associations of congenital heart disease (CHD) in a multiethnic cohort.
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Prenatal features, associated co-morbidities and clinical course of agenesis of the ductus venosus in the current era. Prenat. Diagn. (IF 2.425) Pub Date : 2020-09-13 Angela McBrien,Oana Caluseriu,Karen Y Niederhoffer,Lisa K Hornberger
Agenesis of the ductus venosus (ADV) has been associated with additional anomalies in up to 83% of cases. We sought to investigate characteristics, co‐morbidities and outcomes of ADV in the current era. We hypothesized that rates of cardiac and non‐cardiac diagnoses and survival would be higher, due to advances in genetic testing, prenatal diagnosis and surveillance.
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Prenatally detected isolated ventricular septum defects and the association with chromosomal aberrations—A nationwide register‐based study from Denmark Prenat. Diagn. (IF 2.425) Pub Date : 2020-10-21 Cathrine Vedel; Line Rode; Finn Stener Jørgensen; Olav Bjørn Petersen; Karin Sundberg; Ann Tabor; Charlotte Kvist Ekelund
To evaluate the association between prenatally detected isolated ventricular septum defects (VSDs) and chromosomal aberrations in a nationwide study in Denmark.