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34 Cards in this Set
- Front
- Back
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What are some etiologic factors of a fetal syndrome?
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Chromosome abn'l, infective agents, teratogens
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What are some characteristics of Beckwith-Weidman syndrome?
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Macrosomia, macroglossia, omphalocele, visceromegaly, polyhydramnios
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What is craniosynostosis?
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Congenital anomaly characterized by premature close of the suture
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What is a result of craniosynostosis?
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Distorted head growth,
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Majority of craniosynostosis abnormalities occur at which suture?
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Sagital suture
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What are some facial abn'l seen with craniosynostosis?
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midline hypoplasia, acrocephaly, frontal bossing, hypertolerism, depressed nasal bridge
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What are some abn'l seen with Fetal Alcohol syndrome?
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Facial deformities, poor neurodevelopment and physical growth
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List some sonographic findings of Fetal Alcohol syndrome?
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Microcephaly, micrognathia, cleft palate, micropthalmia, disgenesis of the corpus callosum, ASD, VSD, IUGR
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What causes Limb-Body wall complex syndrome?
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Failure of the body stalk to form
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What are some characteristics of Limb Body wall complex?
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Short umbilical cord, failure of fusion of the amnion and chorion
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What is another name for Limb Body Wall complex?
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Amniotic Band Syndrome
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What are some associated findings of Limb Body Wall complex?
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Severe scoliosis and limb defects
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What are some characteristics of Meckel Gruber syndrome?
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Occipital encephalocele, PCKD, polydactyly
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What is Noonan's Syndrome?
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chromosome abn'l characterized by thickened nuchal translucency or cystic hygroma, CHD, and Hydrops
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What is the life expectacy of a fetus with Noonan's syndrome?
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Normal life, unless major CHD
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What are some sonographic findings of Noonan's Syndrome?
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Hydrops, Renal abn'l, indentation of the fetal chest
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How many chromosomes does a normal person have?
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46, inherited 23 per parent
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Describe Turner's Syndrome
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Missing one sex chromosome, 45X
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What is triploidy?
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Complete extra set of chromosomes, 69XXX, or 69XXY
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What are some sonographic markers of Trisomy 21?
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Nuchal fold greater or equal to 6mm, EICF, pyelectesis, CHD, absent nasal bone, sandal gap, duodenal atresia, short femurs
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What are some sonographic markers for Trisomy 18?
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cardiac anomalies, early onset IUGR, micrognathia, clenched hands, rocker bottom feet, omphalocele, choroid plexus cysts
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What are some sonographic markers for Trisomy 13?
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CHD, CNS defects, holoprosencephaly, facial deformities, renal abn'l, IUGR, polydactyly, clenched hands and overlapping digits
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What are some sonographic markers for Triploidy?
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severe IUGR, facial abn'l, heart defects, NTDs, partial mole
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What are some sonographic findings of Turner's Syndrome?
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Cardiac defects, hydrops, renal abn'l, cystic hygroma, short femurs
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Is Turner's Syndrome found in males, females, or both genders?
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Only females
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What are some physical characteristics of a patient with Turner's Syndrome?
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Short stature, webbed neck, low hairline, underdeveloped breasts, shield shaped thorax, no mensturation
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What are some findings of Velocardiofacial Syndrome?
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Heart defects, cleft lip and palate, renal and extremity abn'l
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What is Tuberous Sclerosis?
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Genetic disorder that causes benign tumors to grow in vital organs
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What chromosomes are affected by Tuberous Sclerosis?
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Chromosome 9 or 16
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What ultrasound finding is significant for Tuberous Sclerosis?
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Rhabdomyoma in the heart
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What is the weight discrepancy of monochorionic twins to be diagnosed with Twin to Twin Transfusion?
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20% EFW discrepency
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With TTTS, which twin often has hydrops?
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The recipient twin
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What are some treatment methods of TTTS?
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Reduction amnio, Septostomy, Selective laser ablation of anastomotic vessel, selective cord coagulation
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What is Septostomy?
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Physician makes a hole dividing the two fetuses allowing fluid to equailize
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