This is the second in a series of articles provided to the readers of PENNSYLVANIA MEDICINE as an update from researchers and clinicians in this cutting-edge medical field. The series is partially sponsored through a grant from the Pennsylvania Department of Health to the University of Pittsburgh Department of Human Genetics.

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(1) Background: Fetal chromosomal examination is a critical component of modern prenatal testing. Traditionally, maternal serum biomarkers such as free β-human chorionic gonadotropin (Free β-HCG) and pregnancy-associated plasma protein A (PAPPA) have been employed for screening, achieving a detection rate of approximately 90% for fetuses with Down syndrome, albeit with a false positive rate of 5%. While amniocentesis remains the gold standard for the prenatal diagnosis of chromosomal abnormalities, including Down syndrome and Edwards syndrome, its invasive nature carries a significant risk of complications, such as infection, preterm labor, or miscarriage, occurring at a rate of 7 per 1000 procedures.

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: Vein of Galen aneurysmal malformations (VGAMs) represent the most common vascular malformations of the brain at the pediatric age. Comprehension of its angioarchitecture and clinical features may influence their treatment options and functional outcomes. The aim of this review is to give an update of the anatomical and technical aspects of the management of VGAMs after endovascular treatment.

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Single umbilical artery (SUA) is considered an ultrasound marker of anomalies. Although it may be present in about 0.5% to 6% of normal pregnancies, it has been linked with an increased risk of fetal growth restriction (FGR), as well as cardiac, genitourinary and gastrointestinal malformations and chromosomal anomalies such as trisomies 21 and 18.

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Congenital heart defects (CHDs) are the most common congenital defect, occurring in approximately 1 in 100 live births and being a leading cause of perinatal morbidity and mortality. Of note, approximately 25% of these defects are classified as critical, requiring immediate postnatal care by pediatric cardiology and neonatal cardiac surgery teams. Consequently, early and accurate diagnosis of CHD is key to proper prenatal and postnatal monitoring in a tertiary care setting.

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