Down syndrome echocardiography or ultrasound

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

There are no echocardiography/ultrasound findings associated with [disease name].

OR

Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Ultrasound

The following abnormalities may be associated with Down syndrome on ultrasound:[1][2]

  • Intrauterine growth restriction
  • Mild cerebral ventriculomegaly
  • Choroid plexus cysts
  • Increased nuchal fold thickness
  • Cystic hygromas
  • Echogenic intracardiac foci
  • Congenital heart defects
  • Increased intestinal echogenicity
  • Duodenal atresia (“double-bubble sign”)
  • Renal pelvis dilation
  • Shortened humerus and femur
  • Increased iliac wing angle
  • Incurving (clinodactyly) and hypoplasia of the fifth finger
  • Increased space between first and second toes
  • Two-vessel umbilical cord

Echocardiography

References

  1. Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA (June 1996). "The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21". Obstet Gynecol. 87 (6): 948–52. PMID 8649704.
  2. Gross SJ, Bombard AT (September 1998). "Screening for the aneuploid fetus". Obstet. Gynecol. Clin. North Am. 25 (3): 573–95. PMID 9710912.

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