Prenatal Diagnosis

Article	Citations
Issue Information	164
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Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes	45
Different expressions of cardiac biomarkers between different types of acquired right ventricular outflow tract abnormality in monochorionic twins	39
A microfluidic platform for high‐purity cell free DNA extraction from plasma for non‐invasive prenatal testing	36
The aorto‐left ventricular tunnel from a fetal perspective: Original case series and literature review	36
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	32
Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study	29
Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant	28
Connecting the dots: Carrier screening and the Genetic Information Nondiscrimination Act in the United States	28
Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”	26
Understanding the experiences and perspectives of prenatal screening among a diverse cohort	25
Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes	25
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Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling	25
Prenatal Diagnosis of Arboleda‐Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction	24
Appropriately Grown Monochorionic Diamniotic Twins With Intermittent Absent and Reversed End‐Diastolic Umbilical Artery Flow: Proximate Cord Insertion Is a Key Risk Marker	24
Issue Information	23
Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study	22
Congenital heart anomalies in the first trimester: From screening to diagnosis	22
Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?	22
S100B in maternal circulation of pregnancies complicated by FGR and brain sparing	21
Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology	20
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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up	20
Brain Abnormalities in Prenatally Diagnosed Rubinstein‐Taybi Syndrome	20
A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium	19
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes	19
Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy	18
IVF embryo choices and pregnancy outcomes	17
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Postmortem imaging of fetuses at early gestations: A comparison of microfocus computed tomography with postmortem magnetic resonance at 9.4 T and postmortem ultrasound	17
Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022	16
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Prenatal detection rates for congenital heart disease using abnormal obstetrical screening ultrasound alone as indication for fetal echocardiography	16
Technically successful fetal aortic valvuloplasty acutely improves left heart output	16
Fetal and neonatal abnormalities due to congenital syphilis: A literature review	16
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia	16
Cerebro‐placental and umbilico‐cerebral ratios in uncomplicated monochorionic twins: Longitudinal references and comparison with singletons	16
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Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results	16
Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies	15
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A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester	15
Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature	15
Pulmonary hypertension in congenital diaphragmatic hernia: Antenatal prediction and impact on neonatal mortality	15
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	15
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Local host response of commercially available dural patches for fetal repair of spina bifida aperta in rabbit model	14
Noninvasive prenatal testing of hereditary colorectal cancer syndromes using cell‐free DNA in maternal plasma	14
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Patients' choices and opinions on chorionic villous sampling and non‐invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross‐sectional qu	14
Is the first‐trimester combined screening result associated with the phenotype of Down syndrome? A population‐based cohort study	14
The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study	14
‘I Could Trust It’: Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell‐Free DNA Screening for Unbalanced Translocations	14
Conus medullaris migration during the third trimester: A retrospective study	14
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia	14
Transforming congenital heart disease management: Advances in fetal cardiac interventions	13
Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family	13
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects	13
State‐wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non‐invasive prenatal testing for sex chromosome conditions	13
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Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?	13
A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South India	13
Poster Abstracts of the ISPD 28th International Conference on Prenatal Diagnosis and Therapy, Boston, Massachusetts, United States, 7–10 July 2024	13
Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort	13
Severe fetal ventriculomegaly: Fetal morbidity and mortality, caesarean delivery rates and obstetrical challenges in a large prospective cohort	13
Prenatal assessment of pulmonary vasculature development in fetuses with congenital diaphragmatic hernia: A literature review	13
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Lessons learnt from prenatal exome sequencing	12
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Interdependence of placenta and fetal cardiac development	12
Counseling for personal health implications identified during reproductive genetic carrier screening	12
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The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS	12
Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12‐Related Disorders	12
A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing	12
Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies	12
Prenatal Treatment of Bronchopulmonary Sequestration via Radiofrequency Ablation of the Feeding Artery	12
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Postnatal genetic testing on cord blood for prenatally identified high‐probability cases	11
Perinatal and long‐term outcome of endoscopic laser surgery for twin–twin transfusion syndrome with and without selective fetal growth restriction: A retrospective cohort study	11
Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study	11
Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics	11
Maternal serological screening for cytomegalovirus infection may play an important role nowadays	11
Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs	11
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder	11
Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review	11
Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra‐Cerebral Malformations	11
Optimal timing of delivery for growth restricted fetuses with gastroschisis: A decision analysis	11
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Correspondence on “Current Controversy in Prenatal Diagnosis: The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use”	11
Prenatal Phenotype of a Heterozygous Missense CHD4 Variant in a Fetus With Widened Cerebral Subarachnoid Space, Increased Head Circumference and Polyhydramnios	11
Fetal cardiac intervention in hypoplastic left heart syndrome with intact or restrictive atrial septum, systematic review, and meta‐analysis	10
The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia	10
Factors associated with late gestational age of diagnosis and/or delayed referral of fetuses with major structural malformations: A study in a tertiary care hospital in South India	10
Fetal diagnosis and management of pulmonary artery sling: A case series	10
Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature	10
Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?	10
Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia	10
A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2‐related congenital adrenal h	10
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)	10
Prediction of Preeclampsia in Twins Using First Trimester: cffDNA Fraction, PlGF, and MAP	10
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Prenatal testing for imprinting disorders: A laboratory perspective	10
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International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies	9
Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review	9
ISPD 2021 debate ‐ All in vitro fertilization cycles should involve pre‐implantation genetic testing to improve fetal health and pregnancy outcomes	9
Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly	9
Associations and outcomes of prenatally detected rhombencephalosynapsis	9
Turner syndrome‐omphalocele association: Incidence, karyotype, phenotype and fetal outcome	9
A novel method for extracting circulating cell‐free DNA from whole blood samples and its utility in the non‐invasive prenatal test	9
Twin twin transfusion syndrome with and without selective fetal growth restriction: Predictors of donor demise	9
Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review	9
The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia	9
Considerations for specialized maternal–fetal care in the Somali‐American community	9
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Association between low fetal fraction in cell‐free DNA screening and fetal chromosomal aberrations: A systematic review and meta‐analysis	8
Prenatal hydronephrosis: Bridging pre‐ and postnatal management	8
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Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX‐associated skeletal dysplasia	8
Diagnostic Accuracy of Estimated Fetal Weight Discordance in Predicting Birthweight Discordance in Monochorionic Twins: A Retrospective Cohort Study	8
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Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype	8
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses	8
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis	8
Increased use of diagnostic testing after increased nuchal translucency: The influence of non‐invasive prenatal testing and chromosomal microarray	8
Reproductive health in Turner syndrome: A narrative review	8
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Artificial intelligence in obstetric ultrasound: A scoping review	8
Fatal fetal anomaly: Experiences of women and their partners	8
Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry	8
Fetal Endoscopic Tracheal Occlusion (FETO) for Left and Right Congenital Diaphragmatic Hernia in Canada	8
Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin–Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features	8
Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in‐depth exploration	8
Serial Amnioinfusion Therapy for Treatment of Congenital Bilateral Renal Agenesis—A Systematic Review	7
Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance	7
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth	7
Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant	7
Congenital small bowel obstruction: Prenatal detection and outcome	7
Outcomes of late open fetal surgery for intrauterine spina bifida repair after 26 weeks. Should we extend the Management of Myelomeningocele Study time window?	7
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis	7
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Fetal central nervous system anomalies: When should we offer exome sequencing?	7
Antenatal diagnosis of chorioamnionitis: A review of the potential role of fetal and placental imaging	7
Clinical experience of next generation sequencing based expanded carrier screening in high‐risk couples from a tertiary healthcare center in Pakistan	7
Exteriorization of the uterus reduces fetoscopic cannula‐induced stress and strain: A finite element model analysis	7
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders	7
Non‐invasive prenatal testing detects blood chimerism in dizygotic twins	7
A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum	7
Neurosonographic Evaluation of Cerebral Cortical Development in Fetuses With Congenital Heart Disease: A Systematic Review of the Literature	7
Do We Really Want to Go Fishing for Foetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed	7

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A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?	7
Prenatal diagnosis of vascular anomalies	7
Prenatal Diagnosis of Congenital Paraesophageal Hernia With Gastric Volvulus and Postnatal FBN1 Mutation Confirmation	7
Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities	7
The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing	7
Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies	7
Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy–Walker malformation and single ventricle heart	7
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Post‐Abortem Detection of a Pathogenic Somatic PIK3CA‐Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells	7
The Fall Out of the 2017 European Medical Device Regulation for Tracheal Occlusion	7
Development and validation of a novel fetal vesico‐amniotic shunt, the vortex shunt	6
Diagnosis of fetal total anomalous pulmonary venous connection based on the post‐left atrium space ratio using artificial intelligence	6
Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein—A Nationwide Study	6
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops	6
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort	6
Follow‐Up of Infants With Congenital Cytomegalovirus Following Maternal Primary Infection in the First Trimester and Normal Fetal Brain Imaging at Midgestation	6
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses	6
Predictors of fetal death, neonatal survival and neurological outcomes in severe twin‐twin transfusion syndrome treated by laser ablation of placental vessels	6
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Lung Growth and Intrapulmonary Circulation in Fetuses With Anhydramnios Due to Severe Renal Anomalies Treated With Serial Amnioinfusions	6
Droplet digital PCR is a cost‐effective method for analyzing long cell‐free DNA in maternal plasma: Application in preeclampsia	6
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Nomograms of fetal cardiothoracic ratio from 17 to 37 weeks' gestation as assessed by three different measurement techniques and their correlation with gestational age	6
Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses	6
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies	6
Susceptibility‐weighted imaging to evaluate normal and abnormal vertebrae in fetuses: A preliminary study	6
Cell‐free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification	6
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Mammalian target of rapamycin inhibitors: A new‐possible approach for in‐utero medication therapy	6
The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review	6
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Prenatal exome sequencing in fetuses with callosal anomalies	6
Prenatal Ultrasound Features of Biliary Atresia: Diagnostic Significance of Abnormal Gallbladder Size and Hepatic Hilar Cyst	6
Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?	6
A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect	6
Alterations in cardiac output in fetuses with congenital heart disease	6
Fetoscopic Release of Amniotic Bands Based on the Evidence—A Systematic Review	6
Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities	6
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Opportunities and Challenges of Fetal Gene Therapy	6
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Issues associated with possible implementation of Non‐Invasive Prenatal Testing (NIPT) in first‐tier screening: A rapid scoping review	6
Caudal regression in fetus with de novo SMARCA2 pathogenic variant	5
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series	5
Less‐invasive autopsy for early pregnancy loss	5
Positive predictive value of a single nucleotide polymorphism (SNP)‐based NIPT for aneuploidy in twins: Experience from clinical practice	5
Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review	5
The Toronto nomogram: A Bayesian meta‐regression derived prenatal ultrasound index to predict lower urinary tract obstruction and prune belly syndrome	5
Assessment of Learning Curve for Radiofrequency Ablation in Twin Reversed Arterial Perfusion Sequence: A Simulation Model Study	5
When a sex chromosome aneuploidy is diagnosed—views from a parent support organisation	5
Serum Folate Levels in Reproductive Age Women: Implications for Prevention of Fetal Neural Tube Defects	5
Investigation into the genetics of fetal congenital lymphatic anomalies	5
Enhancing Small‐for‐Gestational‐Age Prediction: Multi‐Country Validation of Nuchal Thickness, Estimated Fetal Weight, and Machine Learning Models	5
Risk of Genetic Abnormality in Fetuses With Unilateral Versus Bilateral Pleural Effusions	5
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound	5
Presentation of ventriculomegaly at 11–14 weeks of gestation: An analysis of longitudinal data	5
Genome‐Wide Cell‐Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta‐Analysis	5
Cell‐Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences	5
Computer‐assisted fetal laser surgery in the treatment of twin‐to‐twin transfusion syndrome: Recent trends and prospects	5
In‐Utero Therapy for Fetal Vascular Anomalies: Efficacy and Tolerance of Sirolimus Administered to the Pregnant Patient	5
Perinatal Survival Following Parvovirus B19 Infection: Overall Outcomes and a Secondary Comparison of the 2023–2024 Outbreak to the Previous Two Decades	5
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage	5
Exome‐based preconception carrier testing for consanguineous couples in China	5
Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome	5
Brain development is altered in rabbit fetuses with congenital diaphragmatic hernia	5
Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease	5
The fetal sequencing consortium: The value of multidisciplinary dialog and collaboration	5
Test performance and clinical utility of expanded non‐invasive prenatal test: Experience on 71,883 unselected routine cases from one single center	5
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype	5
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Fetal agenesis of the septum pellucidum: Ultrasonic diagnosis and clinical significance	5
Congenital lymphocytic choriomeningitis virus: A review	5
Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins	5
The Association of Prenatal Alcohol Exposure With Brain Development During the First 1000 Days of Life: A Systematic Review	5
How should fetal surgery for congenital diaphragmatic hernia be implemented in the post‐TOTAL trial era: A discussion	5
Changing indications and antenatal prognostic factors for ex‐utero intrapartum treatment procedures	5
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease	5
Fetal Anogenital Distance Correlates With Hypospadias and Curvature Severity	5
Prognostic Value of Antenatal Tumor Growth Rate Parameters in Fetal Sacrococcygeal Teratoma: A French Multicenter Retrospective Study	5
Microvillus inclusion disease with prenatal ultrasound findings and postpartum confirmed	5
Clinical Characteristics and Outcomes of Intrauterine Blood Transfusion (IUT) for Infectious Etiologies	5
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Outstanding clinical and research questions in complex twin and multiple pregnancy	5
Outcome of monochorionic triamniotic triplet pregnancies: Expectant management versus fetal reduction	5
Is there an increased risk of genetic abnormalities in fetuses with congenital heart disease in the setting of growth restriction?	5
Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality?	5
Ultrasound findings and detection of fetal abnormalities before 11 weeks of gestation	5