Genetics
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A Case Report of 17q12 Deletion Diagnosed Prenatally
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A case report of fetal brain anomalies caused by an extremely rare homozygous pathologic variant in the UGDH gene
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A case series of the neurosonographic features of tubulinopathies
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A rare likely pathogenic variant in the IHH gene associated with shortened long bones in a fetus
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Application Of Exome Sequencing In Fetuses With Increased Nuchal Translucency: Prospective Experience From A Single Center
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Approach to Genetic Counseling in Resource-Limited Settings: A Case-Based Analysis from an Obstetric Outpatient Cohort
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Artificial intelligence-based system for automated assessment of audit of Nuchal Transluency (NT) images for quality and measurement
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Association between adverse pregnancy outcome and placental biomarkers in the first trimester in pregnancies diagnosed with trisomy 21
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Association between rs17782313 polymorphism near the MC4R Gene, food intake and Pica in pre-existing Diabetes mellitus pregnancy
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Case Presentation: Homozygous Mutation in the Protein Tyrosine Kinase 7 Gene
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Cell-based NIPT: one test for reliable detection of the most common prenatal syndromes, including Down syndrome, 22q11 deletion syndrome, and cystic fibrosis
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Cell-free DNA testing: Serene® NIPT by Germano de Sousa - Innovative Sequencing
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Central Nervous System Anomalies in Polyhydramnios: Genetic Insights and Perinatal Outcomes
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Chromosome 18 Long Arm Deletion Syndrome with Partial Agenesis of the Corpus Callosum: A Rare Case Report
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Clinical Exome Sequencing in Ultrasound-Abnormal Fetuses: Diagnostic Yield and Insights from a Single-Center Experience
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CNVs and SNVs in Prenatal CNS Anomalies: Phenotype-Driven Insights from Exome Sequencing
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Complete hydatidiform mole and co-existing fetus: A complex clinical situation identified with SNP-based prenatal cf-DNA screening
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Correctable and non-correctable fetal malformations in combination with chromosomal abnormalities: diagnostics and management tactics
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Detection of Monosomy 7 in a Pregnant Woman with Chronic Myeloid Leukemia via NIPT: Fetal, Maternal, or Unexplained Origin?
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Diagnostic performance of NIPT in detecting common and rare aneuploidies with or without ultrasound markers: A retrospective study from a tertiary fetal care centre in South India
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Diagnostic utility of prenatal exome sequencing in fetuses with brain anomalies
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Early Amniocentesis Versus Transabdominal Chorionic Villus Sampling For Prenatal Diagnosis
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Evaluating the efficacy of non-invasive prenatal testing (NIPT) in the detection of sex chromosome aneuploidy(SCA): False alarms in the womb?
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Fetal Exome Sequencing – A New Approach in the Prenatal Diagnosis of Genetic Disorders
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Fetal Sex as a Risk Factor for Pregnancy Termination: A Clinical and Ethical Perspective
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Genetic Association In Prenatally Diagnosed Fetuses With CNS Anomalies: A Single Tertiary Center Retrospective Study
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Low-Pass Whole Genome Sequencing (lpWGS) as an Alternative Modality for Antenatal Diagnosis of Chromosomal Abnormalities
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Low-set ears: a new marker for fetal chromosomal anomalies in pregnancy
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Mid-Trimester Ultrasound Findings In Tricho-Hepato-Enteric Syndrome. A Case Report
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Multicenter validation of an AI system for the automated interpretation of first trimester fetal ultrasound exams
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Ncreased nuchal translucency and pregnancy outcomes: A retrospective analysis of 256 singleton pregnancies in a Vietnamese tertiary center
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NEB Mutations in a Fetus: a rare case report
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Non-invasive prenatal testing detecting maternal malignancy: A Case Report
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Optimizing prenatal detection of chromosomal abnormalities through the contingent use of NIPT: a retrospective cohort study
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Patient preferences and understanding of genome-wide cell-free DNA screening for fetal chromosomal imbalances: a survey study
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Placental cytogenetic testing for confined placental mosaicism amongst discordant cell-free DNA screening results, and associated obstetric outcomes
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Pregnancy in a Patient with Takayasu Arteritis Complicated by Pulmonary Hemorrhage: A Case Report
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Pregnancy outcomes of embryos with mosaic or segmental chromosomal aberrations
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Prenatal detection of RTTN-associated congenital anomalies: expanding the genetic and phenotypic spectrum
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Prenatal Diagnosis of Desmosterolosis: First Report of Elevated Fetal Desmosterol Levels in Amniotic Fluid and Cord Blood
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Prenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dystrophy) with Confirmed Compound Heterozygous DYNC2H1 Mutations: A Case Report
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Prenatal presentation of PIK3CA related overgrowth spectrum- case report
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Prenatal, obstetrics, and early postnatal outcomes in pregnancies diagnosed with trisomy 21: A 5-year retrospective review at a tertiary center
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Processed food intake and gestational weight gain in relation to the FTO rs9939609 polymorphism in Brazilian pregnant women with pregestational diabetes
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Public Concerns and Information Needs Regarding Cesarean Section - Insights from Google Search Behavior in German-Speaking Countries
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Sonographic and biochemical first-trimester characteristics of fetuses undergoing prenatal exome sequencing for structural anomalies detected at ultrasound
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Sotos Syndrome: neuroradiological new prenatal phenotyping
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Structural and Genetic Anomalies in Polyhydramnios: Influence of Severity on Prenatal Diagnosis and Perinatal Outcome
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Targeted prenatal exome testing leading to ethical challenges
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Telemedicine In Prenatal Genetic Counselling: Lessons From A Developing Country
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The detection of fetal de novo pathogenic sequence variants in maternal plasma cell-free DNA – a systematic review
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The Role of Non-Classical Thrombophilic Gene Mutations in Recurrent Pregnancy Loss: A Cross-Sectional Study and Predictive Model Development
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Third-trimester repeat cell-free DNA screening in pregnancies with false-positive results, with placental cytogenetic testing
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Uncertain to Actionable: Reinterpretation of Variants of Uncertain Significance in Prenatal Genetic Testing
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Utilizing Digital PCR for Non-Invasive Prenatal Detection of Chromosomal Aneuploidies
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Ververi Brady syndrome: Elevated Nuchal Translucency (95th to 99th centile): A Subtle Signal, A Significant Story
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When NT Is Not Enough: Extremely Increased Nuchal Translucency with possibly good prognosis