Prenatal Diagnosis

Article	Citations
Issue Information	173
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A microfluidic platform for high‐purity cell free DNA extraction from plasma for non‐invasive prenatal testing	45
Different expressions of cardiac biomarkers between different types of acquired right ventricular outflow tract abnormality in monochorionic twins	42
Understanding the experiences and perspectives of prenatal screening among a diverse cohort	37
Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?	37
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling	30
Appropriately Grown Monochorionic Diamniotic Twins With Intermittent Absent and Reversed End‐Diastolic Umbilical Artery Flow: Proximate Cord Insertion Is a Key Risk Marker	29
Prenatal Diagnosis of Arboleda‐Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction	29
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Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes	26
Congenital heart anomalies in the first trimester: From screening to diagnosis	26
The aorto‐left ventricular tunnel from a fetal perspective: Original case series and literature review	25
Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study	24
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	24
Connecting the dots: Carrier screening and the Genetic Information Nondiscrimination Act in the United States	23
Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant	23
Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”	22
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Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes	21
A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester	20
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Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature	20
Technically successful fetal aortic valvuloplasty acutely improves left heart output	19

Cerebro‐placental and umbilico‐cerebral ratios in uncomplicated monochorionic twins: Longitudinal references and comparison with singletons	19
Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022	19
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia	18
Genome Sequencing for All Pregnant Persons: Navigating the Next Frontier in Prenatal Diagnosis Through Patient Reflections	18
Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies	18
Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy	17
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	16
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Prenatal detection rates for congenital heart disease using abnormal obstetrical screening ultrasound alone as indication for fetal echocardiography	16
Brain Abnormalities in Prenatally Diagnosed Rubinstein‐Taybi Syndrome	16
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Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results	16
Pulmonary hypertension in congenital diaphragmatic hernia: Antenatal prediction and impact on neonatal mortality	16
Fetal and neonatal abnormalities due to congenital syphilis: A literature review	16
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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up	16
Postmortem imaging of fetuses at early gestations: A comparison of microfocus computed tomography with postmortem magnetic resonance at 9.4 T and postmortem ultrasound	16
A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium	16
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Prenatal assessment of pulmonary vasculature development in fetuses with congenital diaphragmatic hernia: A literature review	15
Noninvasive prenatal testing of hereditary colorectal cancer syndromes using cell‐free DNA in maternal plasma	15
Is the first‐trimester combined screening result associated with the phenotype of Down syndrome? A population‐based cohort study	15
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	15
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes	15
Local host response of commercially available dural patches for fetal repair of spina bifida aperta in rabbit model	15
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?	15
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS	15
Severe fetal ventriculomegaly: Fetal morbidity and mortality, caesarean delivery rates and obstetrical challenges in a large prospective cohort	14
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Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects	14
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
Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family	14
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia	14
Prenatal Treatment of Bronchopulmonary Sequestration via Radiofrequency Ablation of the Feeding Artery	14
Poster Abstracts of the ISPD 28th International Conference on Prenatal Diagnosis and Therapy, Boston, Massachusetts, United States, 7–10 July 2024	14
‘I Could Trust It’: Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell‐Free DNA Screening for Unbalanced Translocations	14
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Transforming congenital heart disease management: Advances in fetal cardiac interventions	14
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Lessons learnt from prenatal exome sequencing	13
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The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study	13
A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South India	13
Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12 ‐Related Disorders	13
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Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort	13
Interdependence of placenta and fetal cardiac development	13
A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing	13
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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”	12
Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs	12
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Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra‐Cerebral Malformations	12
Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies	12
Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study	12
Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia	11
Postnatal genetic testing on cord blood for prenatally identified high‐probability cases	11
Maternal serological screening for cytomegalovirus infection may play an important role nowadays	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
Optimal timing of delivery for growth restricted fetuses with gastroschisis: A decision analysis	11
Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?	11
Prediction of Preeclampsia in Twins Using First Trimester: cffDNA Fraction, PlGF, and MAP	11
Prenatal Phenotype of a Heterozygous Missense CHD4 Variant in a Fetus With Widened Cerebral Subarachnoid Space, Increased Head Circumference and Polyhydramnios	11
Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics	11
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder	11
Fetal cardiac intervention in hypoplastic left heart syndrome with intact or restrictive atrial septum, systematic review, and meta‐analysis	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
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Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly	10
Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry	10
Fetal diagnosis and management of pulmonary artery sling: A case series	10
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)	10
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Artificial intelligence in obstetric ultrasound: A scoping review	10
Fatal fetal anomaly: Experiences of women and their partners	10
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis	10
Associations and outcomes of prenatally detected rhombencephalosynapsis	10
Prenatal testing for imprinting disorders: A laboratory perspective	10
Longitudinal Magnetic Resonance Imaging Study of Hemodynamic Changes in the Third Trimester in Fetuses With Major Congenital Heart Defects and Healthy Fetuses	10
International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies	10
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Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype	10
Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review	10
Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature	10
Middle Cerebral Artery Peak Systolic Velocity in Fetuses With Transposition of the Great Arteries	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	9
Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review	9
A novel method for extracting circulating cell‐free DNA from whole blood samples and its utility in the non‐invasive prenatal test	9
The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia	9
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ISPD 2021 debate ‐ All in vitro fertilization cycles should involve pre‐implantation genetic testing to improve fetal health and pregnancy outcomes	9
Association between low fetal fraction in cell‐free DNA screening and fetal chromosomal aberrations: A systematic review and meta‐analysis	9
Considerations for specialized maternal–fetal care in the Somali‐American community	9
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	9
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses	9
Can Communication Skills Be Taught in a Multidisciplinary Maternal Fetal Care Center?	9
Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification	9
Diagnostic Accuracy of Estimated Fetal Weight Discordance in Predicting Birthweight Discordance in Monochorionic Twins: A Retrospective Cohort Study	8
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth	8
Serial Amnioinfusion Therapy for Treatment of Congenital Bilateral Renal Agenesis—A Systematic Review	8
Increased use of diagnostic testing after increased nuchal translucency: The influence of non‐invasive prenatal testing and chromosomal microarray	8
Non‐invasive prenatal testing detects blood chimerism in dizygotic twins	8
Exteriorization of the uterus reduces fetoscopic cannula‐induced stress and strain: A finite element model analysis	8
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Turner syndrome‐omphalocele association: Incidence, karyotype, phenotype and fetal outcome	8
Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance	8
A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum	8
Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX‐associated skeletal dysplasia	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
The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia	8
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Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies	8
Prenatal hydronephrosis: Bridging pre‐ and postnatal management	8
Fetal Endoscopic Tracheal Occlusion (FETO) for Left and Right Congenital Diaphragmatic Hernia in Canada	7
Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in‐depth exploration	7
Prenatal diagnosis of 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
Reproductive health in Turner syndrome: A narrative review	7
Follow‐Up of Infants With Congenital Cytomegalovirus Following Maternal Primary Infection in the First Trimester and Normal Fetal Brain Imaging at Midgestation	7
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis	7
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops	7
Post‐Abortem Detection of a Pathogenic Somatic PIK3CA‐Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells	7
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders	7
Clinical experience of next generation sequencing based expanded carrier screening in high‐risk couples from a tertiary healthcare center in Pakistan	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
Neurosonographic Evaluation of Cerebral Cortical Development in Fetuses With Congenital Heart Disease: A Systematic Review of the Literature	7

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
Prenatal exome sequencing in fetuses with callosal anomalies	7
Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?	7
The Fall Out of the 2017 European Medical Device Regulation for Tracheal Occlusion	7
Fetoscopic Release of Amniotic Bands Based on the Evidence—A Systematic Review	7
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Congenital small bowel obstruction: Prenatal detection and outcome	7
The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing	7
Prenatal Diagnosis of Congenital Paraesophageal Hernia With Gastric Volvulus and Postnatal FBN1 Mutation Confirmation	7
Associations of Physician Perspectives, Personal Choices, and Counseling for Severe Congenital Heart Defects	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
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Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities	7
Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses	7
Alterations in cardiac output in fetuses with congenital heart disease	7
Do We Really Want to Go Fishing for Foetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed	7
Susceptibility‐weighted imaging to evaluate normal and abnormal vertebrae in fetuses: A preliminary study	7
A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?	7
Prenatal Evaluation of Scrotal Masses: A Systematic Literature Review	6
Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins	6
Assessment of Learning Curve for Radiofrequency Ablation in Twin Reversed Arterial Perfusion Sequence: A Simulation Model Study	6
Genome‐Wide Cell‐Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta‐Analysis	6
Congenital lymphocytic choriomeningitis virus: A review	6
Prenatal Ultrasound Features of Biliary Atresia: Diagnostic Significance of Abnormal Gallbladder Size and Hepatic Hilar Cyst	6
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort	6
Issues associated with possible implementation of Non‐Invasive Prenatal Testing (NIPT) in first‐tier screening: A rapid scoping review	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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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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In‐Utero Therapy for Fetal Vascular Anomalies: Efficacy and Tolerance of Sirolimus Administered to the Pregnant Patient	6
Fetal Anogenital Distance Correlates With Hypospadias and Curvature Severity	6
The Association of Prenatal Alcohol Exposure With Brain Development During the First 1000 Days of Life: A Systematic Review	6
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Droplet digital PCR is a cost‐effective method for analyzing long cell‐free DNA in maternal plasma: Application in preeclampsia	6
A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect	6
Lung Growth and Intrapulmonary Circulation in Fetuses With Anhydramnios Due to Severe Renal Anomalies Treated With Serial Amnioinfusions	6
Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein—A Nationwide Study	6
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Fetal Pancreas in Growth Restriction: A Prenatal Window Into Metabolic and Genetic Risk	6
Development and validation of a novel fetal vesico‐amniotic shunt, the vortex shunt	6
Mammalian target of rapamycin inhibitors: A new‐possible approach for in‐utero medication therapy	6
Investigation into the genetics of fetal congenital lymphatic anomalies	6
Cell‐Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences	6
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Opportunities and Challenges of Fetal Gene Therapy	6
The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review	6
Diagnosis of fetal total anomalous pulmonary venous connection based on the post‐left atrium space ratio using artificial intelligence	6
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Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses	6
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies	6
Enhancing Small‐for‐Gestational‐Age Prediction: Multi‐Country Validation of Nuchal Thickness, Estimated Fetal Weight, and Machine Learning Models	5
Perinatal Survival Following Parvovirus B19 Infection: Overall Outcomes and a Secondary Comparison of the 2023–2024 Outbreak to the Previous Two Decades	5
Changing indications and antenatal prognostic factors for ex‐utero intrapartum treatment procedures	5
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage	5
Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease	5
Brain development is altered in rabbit fetuses with congenital diaphragmatic hernia	5
Performance of Prenatal Cell‐Free DNA Screening for Foetal Chromosome Aneuploidies and Microdeletion/Microduplication Syndromes: A Retrospective Study of 64,482 Consecutive Cases From a Prenatal Diagn	5
Microvillus inclusion disease with prenatal ultrasound findings and postpartum confirmed	5
Caudal regression in fetus with de novo SMARCA2 pathogenic variant	5
Fetal agenesis of the septum pellucidum: Ultrasonic diagnosis and clinical significance	5
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The Toronto nomogram: A Bayesian meta‐regression derived prenatal ultrasound index to predict lower urinary tract obstruction and prune belly syndrome	5
Combined Cell‐Free DNA Screening for Aneuploidies and Selected Single‐Gene Disorders for Pregnancies With Sonographically Detected Fetal Anomalies: Detection Rate and Residual Risk	5
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Serum Folate Levels in Reproductive Age Women: Implications for Prevention of Fetal Neural Tube Defects	5
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease	5
When a sex chromosome aneuploidy is diagnosed—views from a parent support organisation	5
Outstanding clinical and research questions in complex twin and multiple pregnancy	5
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series	5
Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review	5
Is there an increased risk of genetic abnormalities in fetuses with congenital heart disease in the setting of growth restriction?	5
Clinical Characteristics and Outcomes of Intrauterine Blood Transfusion (IUT) for Infectious Etiologies	5
Risk of Genetic Abnormality in Fetuses With Unilateral Versus Bilateral Pleural Effusions	5
Outcome of monochorionic triamniotic triplet pregnancies: Expectant management versus fetal reduction	5
Prognostic Value of Antenatal Tumor Growth Rate Parameters in Fetal Sacrococcygeal Teratoma: A French Multicenter Retrospective Study	5
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound	5
Less‐invasive autopsy for early pregnancy loss	5
Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome	5
Positive predictive value of a single nucleotide polymorphism (SNP)‐based NIPT for aneuploidy in twins: Experience from clinical practice	5
Computer‐assisted fetal laser surgery in the treatment of twin‐to‐twin transfusion syndrome: Recent trends and prospects	5
Test performance and clinical utility of expanded non‐invasive prenatal test: Experience on 71,883 unselected routine cases from one single center	5
Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality?	5
Presentation of ventriculomegaly at 11–14 weeks of gestation: An analysis of longitudinal data	5
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Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype	5
Cx43 regulates mechanotransduction mechanisms in human preterm amniotic membrane defects	4
Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS	4
Haplotype‐based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A	4
Oral Abstracts of the ISPD 28th International Conference on Prenatal Diagnosis and Therapy, Boston, Massachusetts, United States, 7–10 July 2024	4
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis	4
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Utility of expanded carrier screening in pregnancies with ultrasound abnormalities	4