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Abnormal Karyotype

Ultrasound Fetal Abnormal Karyotype Terms

TermDefinition
abnormal nuchal translucency >3mm associated with chromosomal abnormality, >4mm = even higher risk
Trisomy 21 Down's Syndrome
Trisomy 21 most common
Trisomy 21 extra chromosome #21
Trisomy 21 physical features include: - brachiocephalic head - nuchal fold measurement >6mm - flattened/absent nasal bone - protruding tongue
Trisomy 21 sonographically: - nuchal translucency >3mm - nuchal fold >6mm - cardiac defects - duodenal atresia - shortened extremities - clinodactyly of 5th finger - echogenic foci in heart - short femur for GA
Trisomy 18 Edward's Syndrome
Trisomy 18 extra chromosome #18
Trisomy 18 poor prognosis: lethal
Trisomy 18 sonographically: - small chin (micrognathia) - low set ears - strawberry head - clinched hands - rocker bottom feet - IUGR - polyhydramnios - cleft lip/palate - single umbilical artery
Trisomy 13 plateau syndrome
Trisomy 13 most severe: lethal
Trisomy 13 extra chromosome #13
Trisomy 13 most miscarry early
Trisomy 13 sonographically: - holoprosencephaly - hypotelorism - micrognathia - polydactyly - echogenic kidneys - cleft lip/palate - cranial anomalies
Triploidy 3 sets of chromosomes
Triploidy 69 chromosomes
Triploidy most abort 1st trimester
Triploidy 1 egg is fertilized by 2 sperm
Triploidy partial molar pregnancies
Turner's Syndrome 45X
Turner's Syndrome sex chromosome is absent
Turner's Syndrome only occurs in females
Turner's Syndrome sonographically: - cystic hygroma (most common association) - cardiac defects - hydrops
Turner's Syndrome physically: - short stature - mental retardation - not diagnosed until puberty (lack of menses)
Pierre Robin Syndrome sonographically: - micrognathia - glossoptosis (abnormal downward tongue) - cleft palate (creates difficulty in eating)
Created by: lyager
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