Level II Ultrasound: Fetal Syndromes

Selected fetal syndromes with prenatal ultrasound findings and references.

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Syndrome Index

Amniotic Band Sequence Beckwith-Wiedemann CHARGE Cri du Chat Cystic Fibrosis Down Syndrome Edwards (T18) Fetal Alcohol Syndrome Freeman-Sheldon Fryns Gorlin Jacobsen Meckel-Gruber Miller-Dieker Multiple Pterygium Neu-Laxova Patau (T13) Pentalogy of Cantrell Proteus Russell-Silver Smith-Lemli-Opitz Shprintzen / 22q11 Trisomy 22 VACTERL Walker-Warburg Wolf-Hirschhorn Additional Skeletal Syndromes »

Amniotic Band Sequence

Prenatal ultrasound findings
  • Echogenic amniotic bands
  • Constriction rings
  • Amputations or limb deformities
  • Craniofacial clefts in severe cases
Selected resources

Beckwith-Wiedemann Syndrome

Prenatal ultrasound findings
  • Omphalocele
  • Macroglossia
  • Macrosomia
  • Nephromegaly
  • Polyhydramnios
Selected resources

CHARGE Association

Prenatal ultrasound findings
  • CHD (conotruncal defects)
  • Cleft lip/palate
  • Renal anomalies
Selected resources

Cri du Chat Syndrome

Prenatal ultrasound findings
Selected resources

Cystic Fibrosis

Prenatal ultrasound findings
  • Echogenic bowel
  • Obstructed bowel loops
  • Meconium peritonitis
Selected resources

Down Syndrome (Trisomy 21)

Prenatal ultrasound findings
  • Increased nuchal translucency
  • Second-trimester soft markers:
  • Structural anomalies:
    • AV canal defects
    • Mild ventriculomegaly
    • Duodenal atresia
Selected resources

Edwards Syndrome (Trisomy 18)

Prenatal ultrasound findings
  • Symmetric early IUGR
  • Clenched hands with overlapping fingers
  • Choroid plexus cysts
  • Cardiac defects
  • Omphalocele / midline defects
  • Clubfeet, rocker-bottom feet
  • Polyhydramnios
Selected resources

Patau Syndrome (Trisomy 13)

Prenatal ultrasound findings
  • Holoprosencephaly
  • Midline facial defects
  • Omphalocele
  • Postaxial polydactyly
  • CHD
  • IUGR
Selected resources

Fetal Alcohol Syndrome (FAS)

Prenatal ultrasound findings
  • Often normal or nonspecific
  • IUGR
  • Possible CHD
Selected resources

Freeman-Sheldon Syndrome

Prenatal ultrasound findings
  • Decreased fetal movement
  • Clubfeet
  • Contractures
  • Micrognathia
Selected resources

Fryns Syndrome

Prenatal ultrasound findings
  • Congenital diaphragmatic hernia
  • Facial clefts
  • Limb hypoplasia
  • Hydrops
Selected resources

Gorlin Syndrome

Prenatal ultrasound findings
  • Macrocephaly
  • Jaw cysts late in gestation
Selected resources

Jacobsen Syndrome (11q- deletion)

Prenatal ultrasound findings
  • IUGR
  • Left-sided CHD
  • Occasional renal/brain anomalies
Selected resources

Meckel-Gruber Syndrome

Prenatal ultrasound findings
  • Encephalocele
  • Large echogenic kidneys
  • Postaxial polydactyly
  • Oligohydramnios
Selected resources

Miller-Dieker Syndrome

Prenatal ultrasound findings
  • Lissencephaly
  • Microcephaly
  • Ventriculomegaly
Selected resources

Multiple Pterygium Syndrome

Prenatal ultrasound findings
  • Fetal akinesia
  • Contractures
  • Pterygia across joints
  • Hydrops
Selected resources

Neu-Laxova Syndrome

Prenatal ultrasound findings
  • Severe IUGR
  • Microcephaly
  • Hydrops
  • Contractures
Selected resources

Pentalogy of Cantrell

Prenatal ultrasound findings
  • Omphalocele
  • Ectopia cordis
  • Sternal defect
  • CHD
Selected resources

Proteus Syndrome

Prenatal ultrasound findings
  • Asymmetric overgrowth
  • Soft tissue masses
  • Renal anomalies
Selected resources

Russell-Silver Syndrome

Prenatal ultrasound findings
  • Pronounced IUGR
  • Relative macrocephaly
Selected resources

Smith-Lemli-Opitz Syndrome (SLOS)

Prenatal ultrasound findings
  • IUGR
  • Microcephaly
  • CHD
  • Renal anomalies
  • Postaxial polydactyly / toe syndactyly
Selected resources

Shprintzen Syndrome / Velocardiofacial / 22q11 Deletion

Prenatal ultrasound findings
  • Conotruncal CHD
  • Thymic hypoplasia
Selected resources

Trisomy 22

Prenatal ultrasound findings
  • Severe early IUGR
  • CHD
  • Renal anomalies
  • Hydrops
Selected resources

VACTERL Association

Prenatal ultrasound findings
  • Vertebral anomalies
  • CHD
  • Renal anomalies
  • Limb anomalies
  • Possible TE fistula / anal atresia (often inferred)
Selected resources

Walker-Warburg Syndrome

Prenatal ultrasound findings
  • Cobblestone lissencephaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Occipital encephalocele
Selected resources

Wolf-Hirschhorn Syndrome (4p-)

Prenatal ultrasound findings
Selected resources