Chromosomal Syndromes
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Autosomal Trisomies
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Sex Chromosome Anomalies
|
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Polyploidy
·
Triploidy.
·
Tetraploidy.
|
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Interstitial
Deletions
|
Uniparental
Disomy (UPD)
|
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The Genetic
Sonogram
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Genetic Sonogram Template
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Early Sonographic Markers of Aneuploidy
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Ultrasonound
Marker
|
Gestational Age
(wks)
|
Chromosomal
anomaly
|
SKIN AND NECK
|
|
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Generalized edema
|
>10
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Trisomy21 + 18; XO
|
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Cystic hygroma
|
>9
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XO (Turners syndrome)
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BRAIN
|
|
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Dandy-Walker malformation
|
>11
|
Triploidy
|
|
Holoprosencephaly
|
>11
|
Trisomy 13; Triploidy
|
|
Choroid plexus cyst
|
>12
|
Trisomy 18
|
|
Ventriculomegaly
|
>14
|
Trisomy 21; Triploidy
|
HEART AND LUNGS
|
|
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Atrioventricular septal defects
|
>13
|
Trisomy 21, 13 + 18
|
|
Diaphragmatic hernia
|
>12
|
Trisomy 18
|
|
|
|
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ABDOMEN
|
|
|
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Duodenal atresia
|
>14
|
Trisomy 21
|
|
Omphalocele
|
>12
|
Trisomy 13 + 18
|
|
Hydronephrosis
|
>12
|
Trisomy 21
|
LIMBS
|
|
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Polydactyly
|
>13
|
Trisomy 13
|
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Syndactyly
|
>13
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Trisomy 18; Triploidy
|
PLACENTA AND CORD
|
|
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Partial mole
|
>8
|
Triploidy
|
|
Umbilical cord pseudocyst
|
>9
|
Trisomy 13 + 18
|
|
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