Genetic Sonogram

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Genetic Sonogram
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DS Screening Methods
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First Trimester U/S Screening
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Nuchal Translucency
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Nuchal Translucency
Caughey et al. Am J Obstet Gynecol 2002
Nov1871239-45.
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Nuchal Translucency
Accuracy depends on measurement technique
Intra-observer variability 0.20.27 to
0.330.41
Inter-observer variability 0.220.22
Mean duration of measurement 8-12 min.
Suntharasaj et al. Gynecol Obstet Invest
200560201-05.
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Nuchal Translucency
?
X
X
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Nasal Bone Hypoplasia
Odibo et al Obstet Gynecol. 20041041229-33.
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Nasal Bone Hypoplasia
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Prenasal Thickness
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Prenasal Thickness
PT/NB ratio increases
Detection rate 63 FPR 5
Maymon et al. Prenat Diagn. 2005 Aug 8 Epub
ahead of print
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Prenasal Thickness
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Shortened Humerus
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Echogenic Intracardiac Focus
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Shortened Femur
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Renal Pyelectasis
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Renal Pyelectasis
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Choroid Plexus Cyst
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Widened Iliac Angle
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Widened Iliac Angle
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Structural Anomalies
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Structural Anomalies
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Clinodactyly
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Genetic sonogram CANNOT be used to diagnose or
exclude aneuploidy
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