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International Society for Prenatal Diagnosis -- Building Global Partnerships in Genetics and Fetal Care
Charlottesville, VA
Joined March 2011
Prenatal Diagnosis: Prenatal Ultrasonographic Features Associated With ARSL and X‐Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series
obgyn.onlinelibrary.wiley.com
Background Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and...
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Prenatal Diagnosis: Second‐Trimester Ultrasound Receipt Mediates the Relationship Between Public Insurance and Prenatal Diagnosis of a Congenital Heart Defect
obgyn.onlinelibrary.wiley.com
Objective To delineate the mechanism behind insurance-related disparities in the prenatal diagnosis of a congenital heart defect (CHD). Methods This was a retrospective analysis of electronic heal...
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Prenatal Diagnosis: Prenatal Sonographic Features of Rubinstein–Taybi Syndrome—A Small Case Series of a Rare Syndrome
obgyn.onlinelibrary.wiley.com
Rubinstein–Taybi syndrome (RSTS) is a rare syndrome characterized by intellectual disability, distinctive facial features and distal limb abnormalities. RSTS is indicated by clinical features and...
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Prenatal Diagnosis: Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams–Beuren Syndrome
obgyn.onlinelibrary.wiley.com
Objective This study aimed to characterize the intrauterine phenotype of fetuses with 7q11.23 microduplication syndrome and Williams–Beuren syndrome (WBS) to provide insight into prenatal genotype...
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Prenatal Diagnosis: Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies
obgyn.onlinelibrary.wiley.com
Objective To assess whether targeted magnetic resonance of one or both of the progenitors could refine the diagnosis in cases of fetal brain anomalies with uncertain prognosis. Methods Single-cent...
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Prenatal Diagnosis: Safety of Intrauterine Transfusion Performed Beyond 34 weeks of Gestation
obgyn.onlinelibrary.wiley.com
Objective To describe (1) procedure-related complications, and (2) gestational age (GA) at delivery in patients who received their final intrauterine transfusion (IUT) at ≥ 34 weeks 0 days versus...
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Prenatal Diagnosis: Response to Wynn and Hokovec Regarding “The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use”
obgyn.onlinelibrary.wiley.com
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Prenatal Diagnosis: 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”
obgyn.onlinelibrary.wiley.com
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Prenatal Diagnosis: Clinical Characteristics and Outcomes of Intrauterine Blood Transfusion (IUT) for Infectious Etiologies
obgyn.onlinelibrary.wiley.com
Objective Congenital viral infection may result in fetal anemia and thrombocytopenia. While intrauterine blood transfusions (IUTs) are more commonly performed for Rh alloimmunization, reports using...
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Prenatal Diagnosis: Issue Information
obgyn.onlinelibrary.wiley.com
No abstract is available for this article.
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Prenatal Diagnosis: SNPscan Combined With CNVplex as a High‐Performance Diagnostic Method for Thalassemia
obgyn.onlinelibrary.wiley.com
Objective Thalassemia is a Mendelian-inherited blood disorder with severe consequences, including disability and mortality, making it a significant public health concern. Therefore, there is an...
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Prenatal Diagnosis: Maternal Complications After Laser Surgery for Twin‐to‐Twin Transfusion Syndrome, a Cohort Study
obgyn.onlinelibrary.wiley.com
Objectives To assess maternal complications after fetoscopic laser surgery (FLS) for the twin-to-twin transfusion syndrome (TTTS). Methods All consecutive cases treated with FLS for TTTS between 2...
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Prenatal Diagnosis: Imaging‐Based Prediction Parameters of Perinatal Morbidity and Mortality for Fetal Occipital Cephaloceles
obgyn.onlinelibrary.wiley.com
Objective Fetal occipital cephaloceles display significant morphologic heterogeneity resulting in variable cognitive and survival outcomes. The purpose of this study was to determine if specific...
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Prenatal Diagnosis: Reversal of Fetal Compromise Following In Utero Treatment of Vein of Galen Malformation Using Glue
obgyn.onlinelibrary.wiley.com
Objective To treat the fetus presenting with in utero compromise due to a large vein of Galen malformation (VOGM) using glue embolization. Methods The fetus that was referred for termination of pr...
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Prenatal Diagnosis: Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
obgyn.onlinelibrary.wiley.com
Objective To investigate how many novel pathogenic (P) and likely pathogenic (LP) nonprotein-truncating or noncanonical splicing variants would be classified as variants of unknown significance...
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Prenatal Diagnosis: Risk of Genetic Abnormality in Fetuses With Unilateral Versus Bilateral Pleural Effusions
obgyn.onlinelibrary.wiley.com
Objective Fetal pleural effusions are often associated with underlying genetic etiologies; however, data describing the incidence of genetic abnormalities are limited. We evaluated the rate of...
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Prenatal Diagnosis: Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review
obgyn.onlinelibrary.wiley.com
Alkuraya-Kučinskas syndrome (AKS) is an autosomal recessive multisystem disorder resulting from mutations in the BLTP1 gene, formerly known as KIAA1109. Primary manifestations include brain malform...
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Prenatal Diagnosis: Agenesis of Corpus Callosum, Malformations of Cortical Development, Duodenal Atresia and Fetal Growth Restriction: Prenatal Markers for Zhu‐Tokita‐Takenouchi‐Kim Syndrome
obgyn.onlinelibrary.wiley.com
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Prenatal Diagnosis: The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review
obgyn.onlinelibrary.wiley.com
Recent advances in gene therapy, particularly for single-gene disorders (SGDs), have led to significant progress in developing innovative precision medicine approaches that hold promise for treating...
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Prenatal Diagnosis: Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease
obgyn.onlinelibrary.wiley.com
Objective Impairments in the maternal-fetal environment are associated with adverse postnatal outcomes among infants with congenital heart disease. Therefore, we sought to investigate placental...
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