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Dolores Pretorius, MD, FACR, FAIUM, FSRU
Genetic Screening: A Case Based Approach
Dolores Pretorius, MD, FACR, FAIUM, FSRU
11/09/2014 | Time : 41 min
About This Lecture:

A presentation about the efficacy of sonograms in conjunction with genetic screening. Discuss some of the most current tests available to aid in genetic screening. List the sonographic appearance of markers for Trisomy 21. Discuss sonographic clues for triploidy

Topics mentioned in this video : Title, The blood tests, The California Prenatal Screening Program offers several options, Full integrated screening, Cell-free DNA, American College of Obstetricians and Gynecologists, Case 1, Sonographic images, Diagnosis?, Case 1, Chart, Omphalocele, Multiple choroid plexus cysts, Clenched hands, Clenched hand with overlapping digits in Trisomy 18, Other findings of Trisomy 18, Feet, Omphalocele, Question, Case 2, Sonographic images, Diagnosis?, Case 2, Integrated aneuploidy screen, Ultrasound findings: Trisomy 21, Chart, Short femur, Trisomy 21 CNS abnormalities, Duodenal atresia with polyhydramnios, Sonographic image, First trimester markers T21, Atrioventricular canal defect, VSD, Question, Case 3, Neck, Sonographic images, Diagnosis?, Case 3, Chart, Cystic hygroma, Non-immune hydrops fetalis, Horseshoe kidneys, Coarctation of aorta, Hypoplastic left ventricle, Case 4, Sonographic images, Diagnosis?, Case 4, Holoprosencephaly, Holoprosencephaly: classic, Polydactyly & syndactyly, Hypoplastic left heart, Echogenic kidneys, Absent right orbit, Hypotelorism, Case 5, Multiple malformations in triploidy, Sonographic image, Absent cavum septum pellucidum, Sonographic image, Meningomyelocele, Sonographic clues for triploidy, Other findings of triploidy, Placental lucencies, Cystic hygroma, Theca-lutein cysts, Case 6, Sonographic image, Diagnosis?, Sonographic image, Increased nuchal translucency, Associated with multiple structural anomalies, including cardiac, Kleinfelter’s Syndrome (XXY), Case 7, UCSD study, Case 7: clinical story, UCSD study, Thank you

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Keywords : A, abdominal circumference, absent cavum septum pellucidum, absent nasal bone, AC, AFP, alpha-fetoprotein, aneuploidy, atrioventricular canal defect, biparietal diameter, BPD, brachycephaly, cavum septumcpellucidum, cell-free DNA, cfDNA, choroid plexus cyst, club foot, coarctation of the aorta, cyclops, cystic hygroma, double bubble sign, duodenal atresia, femur length, fetal echocardiogram, fetal hydrops, fetal orbit, FL, HC, HCG, head circumference, holoprosencephaly, horsehoe kidneys, human chorionic gonadotropin, hypoplastic left ventricle, hypotelorism, inhibin, Kleingfelter’s syndrome, mandibular hyperplasia, Meningomyelocele, micrognathia, neural tube defects, non-immune hydrops fetalis, NT, nuchal translucency, omphalocele, polydactyly, polyhydramnios, pregnancy-associated plasma protein A, proboscis, rocker bottom foot, short femur, short humerus, single umbilical artery, syndactyly, tetraology of Fallot, theca-lutein cyst, triploidy, trisomy 13, trisomy 18, trisomy 21, Turner’s syndrome, unconjugated estrodiol, ventricular-septal defect, VSD

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