Prenatal Diagnosis

Article	Citations
Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders	135
Issue Information	73
Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?	58
Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses	43
Evaluation of Intrinsic Fetal Airway Obstruction (CHAOS): Correlations Between Ultrasound, Fetoscopic, and Pathological Findings	39
Perinatal Outcomes in Appropriately Grown Monochorionic Diamniotic Twins With Intermittent Absent and Reversed End‐Diastolic Umbilical Artery Flow Compared to Selective Fetal Growth Restriction Type I	31
Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?	29
Issue Information	27
Prenatal diagnosis of congenital ventricular aneurysm and diverticulum: Prenatal features and perinatal management	26
Issue Information	26
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?	25
Vertical transmission of SARS‐CoV2 during pregnancy: A high‐risk cohort	24
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The first trimester: The new focal point for prenatal screening and diagnosis	23
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Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16‐year experience from a public hospital in South Africa	23
Prenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage	22
Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study	22
Poster abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, Montréal, Canada, 20–22 June 2022	22
The aorto‐left ventricular tunnel from a fetal perspective: Original case series and literature review	21
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1‐ and NEB‐related congenital myopathies	21
Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta	21
Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period	20
Improving prenatal diagnosis through standards and aggregation	19
Parental Somatic Mosaicism Detected During Prenatal Diagnosis	19

Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”	19
Follow‐Up of Infants With Congenital Cytomegalovirus Following Maternal Primary Infection in the First Trimester and Normal Fetal Brain Imaging at Midgestation	19
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops	19
Evaluation of umbilical venous flow volume measured using ultrasound compared to circuit flow volume in the EXTra‐uterine Environment for Neonatal Development (EXTEND) system in fetal sheep	18
Learning curve for fetal postmortem ultrasound	18
Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities	17
Neonatal outcomes of congenital diaphragmatic hernia in full term versus early term deliveries: A systematic review and meta‐analysis	17
Use of fetal tele‐echo at small regional hospitals increases the rate of prenatal diagnosis of congenital heart disease	17
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction	16
Prenatal chromosome microarray: ‘The UK experience’. A survey of reporting practices in UK genetic services (2012–2019)	16
Dual demise following laser surgery for twin‐twin transfusion syndrome: Analysis of 52 cases at a single fetal surgery center	15
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases	15
Re‐evaluation of the predictive value of Quintero staging of twin‐twin transfusion syndrome for fetal death after fetoscopic laser photocoagulation	15
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry	15
Prenatal diagnosis of Cornelia de Lange syndrome from 12 to 17 weeks' gestation	14
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Identification of micrognathia by prenatal ultrasound may improve timely diagnosis and management of infants with Robin sequence	14
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Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene	14
Amniotic fluid‐derived stem cell potential for therapeutic and surgical use: A review of the literature	14
Apparent versus effective test performance: The importance of understanding and reviewing performance metrics	13
Challenges in providing residual risks in carrier testing	13
Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy	13
Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant	13
Normal fetal development of the cervical, thoracic, and lumbar spine: A postmortem study based on magnetic resonance imaging	13
A microfluidic platform for high‐purity cell free DNA extraction from plasma for non‐invasive prenatal testing	13
Issue Information	13
Prenatal work‐up, associated anomalies and postnatal outcomes of foetuses with 9–9.9 mm cerebral ventricular atria width	13
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes	12
Remote hands‐on training with a novel “video‐game” simulator for teaching fetoscopic laser techniques for ablation of placental anastomoses in twin‐to‐twin syndrome	12
Micro‐CT and high‐field MRI for studying very early post‐mortem human fetal anatomy at 8 weeks of gestation	12
Development and in‐vitro characterization of a novel fetal vesicoamniotic shunt – The Vortex shunt	12
Outcomes of fetal lower urinary tract obstruction based on timing of oligohydramnios onset	12
Prenatal diagnosis and treatment for fetal angiotensin converting enzyme deficiency	12
Response to Moldenhauer, Johnson & Van Mieghem ISPD 2022 DEBATE: There should be formal accreditation and ongoing quality assurance/review for units offering fetal therapy that includes public rep	11
Issue Information	11
Issue Information	11
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Connecting the dots: Carrier screening and the Genetic Information Nondiscrimination Act in the United States	11
Noninvasive prenatal testing: Advancing through a virtuous circle of science, technology and clinical applications	11
Perinatal outcome of twin‐to‐twin transfusion syndrome complicated with incidental septostomy after laser photocoagulation: A systematic review and meta‐analysis	11
Susceptibility‐weighted imaging to evaluate normal and abnormal vertebrae in fetuses: A preliminary study	11
Issue Information	11
Presence of fetal DNA in maternal exhaled breath condensate	11
SNPscan Combined With CNVplex as a High‐Performance Diagnostic Method for Thalassemia	11
Gestational age at birth and outcome in monochorionic twins with different types of selective fetal growth restriction: A systematic literature review	11
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Prenatal diagnosis with chromosome microarray and pregnancy outcomes of fetuses with biliary tract system abnormalities	11
Issue Information	11
Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel	11

Understanding the experiences and perspectives of prenatal screening among a diverse cohort	11
Issue Information	11
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Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines	10
Fetal cardiac teratoma and pericardiocentesis: A case report	10
Strategies to Detect Chromosomal Anomalies Not Identified by NIPT	10
Response to: Prenatal Diagnosis and Postnatal Outcome of Closed Spinal Dysraphism, by Bedei et al.	10
Poster Abstracts of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19–21 June 2023	10
National registry of thoracoamniotic shunting using a double‐basket catheter: A post‐marketing surveillance registry of 295 patients with fetal hydrothorax	10
Concurrent maternal malignancy and fetal trisomy detected using genome‐wide noninvasive prenatal screening	10
Prenatal phenotype of Kabuki syndrome: A case series and literature review	10
Clinician‐reported chorionicity and zygosity assignment using single‐nucleotide polymorphism‐based cell‐free DNA: Lessons learned from 55,344 twin pregnancies	10
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Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay	10
Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome	9
The Fall Out of the 2017 European Medical Device Regulation for Tracheal Occlusion	9
Prenatal diagnosis and postnatal management of congenital mesoblastic nephroma: Experience at a single center in China	9
Fetal Urinoma Secondary to Posterior Urethral Valve and Its Association to Postnatal Renal Function: A Multicenter Retrospective Study	9
Delivery room and early postnatal management of neonates with congenital heart disease	9
Alterations in cardiac output in fetuses with congenital heart disease	9
Likely pathogenic variant in the BICD2 gene in fetus presenting with non‐immune hydrops	9
S100B in maternal circulation of pregnancies complicated by FGR and brain sparing	9
Prenatal magnetic resonance imaging of complex female genitourinary system abnormalities, what the fetal medicine specialist needs to know	9
Disparities in the acceptance of chromosomal microarray at the time of prenatal genetic diagnosis	9
‘When Lightning Strikes Twice’—Preimplantation Genetic Testing for Two Indications in One Biopsy	9
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth	9
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies	8
High‐Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations	8
Motion corrected fetal body magnetic resonance imaging provides reliable 3D lung volumes in normal and abnormal fetuses	8
Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?	8
What women want: General population perspectives and access to preconception expanded carrier screening	8
Prenatal Phenotypic Analysis of Branchio‐Oto‐Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review	8
Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions	8
Management of fetal head and neck masses: Evaluation of prenatal factors associated with airway obstruction and decision for definitive airway and ex‐utero intrapartum treatment at birth	8
Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy	8
Agenesis of the corpus callosum: What to tell expecting parents?	8
Triplet pregnancy: What do we tell the prospective parents	8
Postnatal outcome of children with antenatal colonic hyperechogenicity	8
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies	8
Fetoscopic Release of Amniotic Bands Based on the Evidence—A Systematic Review	8
Predictive Indicators and Outcomes of Pregnancies Affected by Stage I Twin–Twin Transfusion Syndrome Treated With Fetoscopic Laser Photocoagulation	8
Does an educational video for aneuploidy screening improve informed choice among pregnant women? A randomised controlled trial	8
Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods	8
A reasoned approach towards administering COVID‐19 vaccines to pregnant women	8
Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies	8
Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches	8
Noninvasive prenatal testing of Duchenne muscular dystrophy in a twin gestation	7
Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis	7
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review	7
A comparison of the accuracy of fetal magnetic resonance imaging and ultrasonography for the diagnosis of fetal congenital malformations of the spine and spinal cord	7
A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy	7
Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study	7
Diagnosis of fetal total anomalous pulmonary venous connection based on the post‐left atrium space ratio using artificial intelligence	7
Antenatal management of congenital diaphragmatic hernia: What's next ?	7
Response to Correspondence: “Do We Really Want to Go Fishing for Fetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed”	7
Expanded carrier screening: What conditions should we screen for?	7
Prenatal exome sequencing in fetuses with callosal anomalies	7
Consequences of imprecision in fetal fraction estimation on performance of cell‐free DNA screening for Down syndrome	7
Prenatal diagnosis of generalized arterial calcification of infancy in the second trimester	7
Post‐Abortem Detection of a Pathogenic Somatic PIK3CA‐Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells	7
Prognostic accuracy of factors associated with poor outcome in prenatally diagnosed sacrococcygeal teratoma: A systematic review and meta‐analysis	7
Congenital heart anomalies in the first trimester: From screening to diagnosis	7
Left heart hypoplasia in the fetus: Echocardiographic predictors of outcome	7
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects	7
Do We Really Want to Go Fishing for Foetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed	7
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results	6
Different expressions of cardiac biomarkers between different types of acquired right ventricular outflow tract abnormality in monochorionic twins	6
Circulating trophoblast numbers as a potential marker for pregnancy complications	6
Antenatal findings and early postnatal outcomes in pregnancies with trisomy 21: a 10 year retrospective review at a tertiary centre	6
Reply to: Addressing expectations of therapeutic options for children with hydrocephalus—A comment on “Fetal Cerebral Ventriculomegaly. What do we tell the prospective parents?”	6
A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt–Oram syndrome	6
The grading of stomach position for postnatal outcomes in isolated left‐sided congenital diaphragmatic hernia: A systematic review and meta‐analysis	6
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing	6
The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles	6
Uptake rate of carrier screening among consanguineous couples	6
Timing of diagnosis of fetal structural abnormalities after the introduction of universal cell‐free DNA in the absence of first‐trimester anatomical screening	6
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing	6
Interrater agreement for sonographic stomach position classification in fetal diaphragmatic hernia across the North American Fetal Therapy Network	6
Droplet digital PCR is a cost‐effective method for analyzing long cell‐free DNA in maternal plasma: Application in preeclampsia	6
Maternal MTHFR 677C>T, 1298A>C gene polymorphisms and risk of offspring aneuploidy	6

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Pulmonary hypertension in congenital diaphragmatic hernia: Antenatal prediction and impact on neonatal mortality	6
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling	6
Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study	6
Fetal hydrops caused by a novel pathogenic MECOM variant	6
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome	6
Fetal phenotypes of Mendelian disorders: A descriptive study from India	6
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Issue Information	5
Hemodynamic and anatomic changes after fetal aortic valvuloplasty are associated with procedural success and postnatal biventricular circulation	5
Technically successful fetal aortic valvuloplasty acutely improves left heart output	5
Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example	5
Association of right aortic arch and agenesis of ductus arteriosus in prenatal tetralogy of Fallot spectrum and its clinical implications	5
Issues associated with possible implementation of Non‐Invasive Prenatal Testing (NIPT) in first‐tier screening: A rapid scoping review	5
The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review	5
Perinatal outcomes of fetoscopic selective laser photocoagulation for spontaneous twin‐anemia polycythemia sequence	5
Prescriptive standards of echocardiographic morphometric and functional parameters in uncomplicated monochorionic diamniotic fetuses	5
Investigation of discrepancies obtained during 15 years of non‐invasive fetal RHD genotyping in apparent serologic RhD‐negative pregnant women	5
Challenges in Identifying the Cause of Fetal Sinus Bradycardia: Coexistence of Maternal Anti‐SSA Antibodies and Holt–Oram Syndrome Due to a Novel TBX5 Variant	5
Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant	5
Prenatal detection rates for congenital heart disease using abnormal obstetrical screening ultrasound alone as indication for fetal echocardiography	5
The role of fetal echocardiogram after detection of extracardiac anomalies in utero (fetal echocardiogram for extracardiac malformations)	5
Oral Abstracts of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19–21 June 2023	5
Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein—A Nationwide Study	5
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia	5
Postmortem imaging of fetuses at early gestations: A comparison of microfocus computed tomography with postmortem magnetic resonance at 9.4 T and postmortem ultrasound	5
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Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?	5
X‐linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus	5
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies	5
How does cell‐based non‐invasive prenatal test (NIPT) perform against chorionic villus sampling and cell‐free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark	5
Improving the Performance of Prenatal Cell‐Free DNA Screening Through Size‐Selective Fetal DNA Enrichment in a Cohort of 71,986 General and High‐Risk Pregnancies	5
Mammalian target of rapamycin inhibitors: A new‐possible approach for in‐utero medication therapy	5
Being born with a single cardiac ventricle: What do we tell prospective parents	5
Ethical reflections on organizing the first human trial of artificial womb technologies	5
Ultrasound visualization of the central nervous system during embryonic and fetal periods: Neurosonoembryology utilizing multiple three‐dimensional transvaginal ultrasound technology	5
Prediction of neonatal survival according to lung‐to‐head ratio in fetuses with right congenital diaphragmatic hernia (CDH): A multicentre study from the Latin American CDH Study Group registry	5
Cardiac adaptation and malformation in twin–twin transfusion syndrome and selective fetal growth restriction: A systematic review	5
Impact of replacing or adding placental growth factor on Down syndrome screening: A prospective cohort study	5
Cell‐free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification	5
The bright future of fetal cardiology	5
Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies	5
Cell‐free DNA methylation‐based preeclampsia prediction: A journey to improve maternal health	5
The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses	5
Utility of chromosomal microarray analysis for the exploration of isolated and severe fetal growth restriction diagnosed before 24 weeks' gestation	5
Ultrasound‐based radiomics for the evaluation of fetal rat lung maturity: A noninvasive assessment method (Ultrasound‐based radiomics in fetal rat lung)	5
When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis	4
Performance of cell‐free DNA testing for common fetal trisomies in triplet pregnancies	4
Prenatal Ultrasound in the Diagnosis of Anorectal Malformations: Correlating Prenatal Signs With Postnatal Outcomes	4
Transplacental non‐steroidal anti‐inflammatory drugs versus expectant management in fetal Ebstein anomaly with circular shunt: Systematic review and meta‐analysis	4
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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up	4
Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022	4
Addressing expectations of therapeutic options for children with hydrocephalus—A comment on “Fetal Cerebral Ventriculomegaly. What do we tell the prospective parents?”	4
Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities	4
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The impact of maternal and geographical factors on the uptake of non‐invasive prenatal testing: A retrospective cohort study	4
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)	4
Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia	4
Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis	4
The Unethical Texas Heartbeat Law	4
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Fetal Therapy for Severe Drug‐Resisted Tachyarrhythmia With Progressive Hydrops by Fetoscopic Transesophageal Pacing: A Successful Attempt in Single Chinese Fetal Medicine Center	4
Prenatal Diagnosis of ACTG2 Visceral Myopathy Presented With Fetal Megacystis Identified in the Second Trimester	4
Can Fetal Heterotaxy Syndrome Be Diagnosed Through Prenatal Ultrasound in the First Trimester (GA 11+0−13+6 Weeks)?	4
Gene modification therapies for hereditary diseases in the fetus	4
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis	4
Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype	4
Issue Information	4
Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases	4
Practice patterns of prenatal and perinatal testing in Canadian cytogenetics laboratories	4
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Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses	4
Preterm membranes are mechanically more resistant than term membranes	4
Insurance and geographic variations in non‐invasive prenatal testing	4
Cerebro‐placental and umbilico‐cerebral ratios in uncomplicated monochorionic twins: Longitudinal references and comparison with singletons	4
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Confronting the Taboo of Multifetal Pregnancy Reduction: A Qualitative Study of Maternal Decision‐Making in Triplet Pregnancies	4
IVF embryo choices and pregnancy outcomes	4
Monocentric Study on the Performance of Noninvasive Prenatal Testing on Cell‐Free DNA for the Detection of Monosomy X	4
Impact of fetal endoscopic tracheal occlusion in fetuses with congenital diaphragmatic hernia and moderate lung hypoplasia	4
Issue Information	4
Isolated fetal umbilical vein varix and the association with intrauterine fetal death and fetal growth restriction: A systematic review, meta‐analysis, and nested retrospective cohort study	4
Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome	4
Termination of pregnancy after a prenatal diagnosis of congenital diaphragmatic hernia: Factors influencing the parental decision process	4
Issue Information	4
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage	4
Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy	4
Idiopathic polyhydramnios and postnatal outcomes of children: The role of exome sequencing	4
A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect	4