Chromosomal Syndromes
Autosomal Trisomies

Sex Chromosome Anomalies

Polyploidy

        Triploidy.

        Tetraploidy.

Interstitial Deletions

Uniparental Disomy (UPD)

The Genetic Sonogram

Genetic Sonogram Template

 

Early Sonographic Markers of Aneuploidy

Ultrasonound

Marker

Gestational Age

(wks)

Chromosomal

anomaly

 

SKIN AND NECK

 

 

Generalized edema

>10

Trisomy21 + 18; XO

Cystic hygroma

>9

XO (Turners syndrome)

BRAIN

 

 

Dandy-Walker malformation

>11

Triploidy

Holoprosencephaly

>11

Trisomy 13; Triploidy

Choroid plexus cyst

>12

Trisomy 18

Ventriculomegaly

>14

Trisomy 21; Triploidy

HEART AND LUNGS

 

 

Atrioventricular septal defects

>13

Trisomy 21, 13 + 18

Diaphragmatic hernia

>12

Trisomy 18

 

 

 

ABDOMEN

 

 

Duodenal atresia

>14

Trisomy 21

Omphalocele

>12

Trisomy 13 + 18

Hydronephrosis

>12

Trisomy 21

LIMBS

 

 

Polydactyly

>13

Trisomy 13

Syndactyly

>13

Trisomy 18; Triploidy

PLACENTA AND CORD

 

 

Partial mole

>8

Triploidy

Umbilical cord pseudocyst

>9

Trisomy 13 + 18