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{{Down syndrome}}
{{Down syndrome}}
{{CMG}}; {{AE}}  
{{CMG}}; {{AE}} {{SH}}


==Overview==
==Overview==
 
The abnormalities that may be associated with Down syndrome on ultrasound include [[intrauterine growth restriction]], mild cerebral [[ventriculomegaly]], [[Choroid plexus cyst|choroid plexus cysts]], increased nuchal fold thickness,[[Cystic hygroma|cystic hygromas]], [[echogenic]] intracardiac foci, [[congenital heart defects]], [[duodenal atresia]] (“double-bubble sign”) increased [[intestinal]] [[echogenicity]], [[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 and the two-[[Blood vessel|vessel]] [[umbilical cord]]. There are no [[echocardiographic]] findings associated with Down syndrome however 40-60 percent of patients with Down syndrome suffer from [[congenital heart defects]] the most common being [[atrial septal defect]], [[atrioventricular septal defect]], [[ventricular septal defect]], and [[patent ductus arteriosus]]. The echocardiographic findings in Down syndrome are of the aforementioned underlying [[congenital heart defects]].  
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 ==
== Ultrasound ==
The following abnormalities may be associated with Down syndrome on ultrasound:<ref name="pmid8649704">{{cite journal |vauthors=Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA |title=The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21 |journal=Obstet Gynecol |volume=87 |issue=6 |pages=948–52 |date=June 1996 |pmid=8649704 |doi= |url=}}</ref><ref name="pmid9710912">{{cite journal |vauthors=Gross SJ, Bombard AT |title=Screening for the aneuploid fetus |journal=Obstet. Gynecol. Clin. North Am. |volume=25 |issue=3 |pages=573–95 |date=September 1998 |pmid=9710912 |doi= |url=}}</ref>
The following abnormalities may be associated with Down syndrome on ultrasound:
* Intrauterine growth restriction
*[[Intrauterine growth retardation|Intrauterine growth restriction]]
* Mild cerebral ventriculomegaly
*Mild [[cerebral]] [[ventriculomegaly]]
* Choroid plexus cysts
*[[Choroid plexus]] [[Cyst|cysts]]
* Increased nuchal fold thickness
*Increased nuchal fold thickness
* Cystic hygromas
*Cystic hygromas
* Echogenic intracardiac foci
*Echogenic intracardiac foci
* Congenital heart defects
*[[Congenital heart disease|Congenital heart defects]]
* Increased intestinal echogenicity
*Increased intestinal [[echogenicity]]
* Duodenal atresia (“double-bubble sign”)
*[[Duodenal atresia]] (“double-bubble sign”)
* Renal pelvis dilation
*[[Renal pelvis]] dilation
* Shortened humerus and femur
*Shortened [[humerus]] and [[femur]]
* Increased iliac wing angle
*Increased iliac wing angle
* Incurving (clinodactyly) and hypoplasia of the fifth finger
*Incurving (clinodactyly) and [[hypoplasia]] of the fifth finger
* Increased space between first and second toes
*Increased space between first and second [[Toe|toes]]
* Two-vessel umbilical cord
*Two-vessel [[umbilical cord]]


==Echocardiography==
==Echocardiography==
**
*There are no Echocardiographic findings associated with Down syndrome however 40-60 percent<ref name="RoizenMagyar2014">{{cite journal|last1=Roizen|first1=Nancy J.|last2=Magyar|first2=Caroline I.|last3=Kuschner|first3=Emily S.|last4=Sulkes|first4=Steven B.|last5=Druschel|first5=Charlotte|last6=van Wijngaarden|first6=Edwin|last7=Rodgers|first7=Lisa|last8=Diehl|first8=Alison|last9=Lowry|first9=Richard|last10=Hyman|first10=Susan L.|title=A Community Cross-Sectional Survey of Medical Problems in 440 Children with Down Syndrome in New York State|journal=The Journal of Pediatrics|volume=164|issue=4|year=2014|pages=871–875|issn=00223476|doi=10.1016/j.jpeds.2013.11.032}}</ref><ref name="pmid1829969">{{cite journal |vauthors=Tubman TR, Shields MD, Craig BG, Mulholland HC, Nevin NC |title=Congenital heart disease in Down's syndrome: two year prospective early screening study |journal=BMJ |volume=302 |issue=6790 |pages=1425–7 |date=June 1991 |pmid=1829969 |pmc=1670107 |doi= |url=}}</ref> of patients with Down syndrome suffer from congenital heart defects the most common are:<ref name="CaroConde2014">{{cite journal|last1=Caro|first1=Milagros|last2=Conde|first2=Diego|last3=Pérez-Riera|first3=Andrés R.|last4=de Almeida|first4=Adail P.|last5=Baranchuk|first5=Adrian|title=The electrocardiogram in Down syndrome|journal=Cardiology in the Young|volume=25|issue=01|year=2014|pages=8–14|issn=1047-9511|doi=10.1017/S1047951114000420}}</ref>
**[[Atrial septal defect]]
**[[Ventricular septal defect]]
**[[Atrioventricular septal defect]]
**[[Patent ductus arteriosus]]
 
*'''To view the Echocardiographic changes of Atrial septal defect [[Atrial septal defect echocardiography|click here]]'''
*'''To view the Echocardiographic changes of Ventricular septal defect [[Ventricular septal defect echocardiography|click here]]'''
*'''To view the Echocardiographic changes of Atrioventricular septal defect [[Atrioventricular septal defect echocardiography|click here]]'''
*'''To view the Echocardiographic changes of Patent ductus arteriosus [[Patent ductus arteriosus echocardiography|click here]]'''


==References==
==References==

Latest revision as of 07:57, 21 March 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dildar Hussain, MBBS [2]

Overview

The abnormalities that may be associated with Down syndrome on ultrasound include intrauterine growth restriction, mild cerebral ventriculomegaly, choroid plexus cysts, increased nuchal fold thickness,cystic hygromas, echogenic intracardiac foci, congenital heart defects, duodenal atresia (“double-bubble sign”) increased intestinal echogenicity, 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 and the two-vessel umbilical cord. There are no echocardiographic findings associated with Down syndrome however 40-60 percent of patients with Down syndrome suffer from congenital heart defects the most common being atrial septal defect, atrioventricular septal defect, ventricular septal defect, and patent ductus arteriosus. The echocardiographic findings in Down syndrome are of the aforementioned underlying congenital heart defects.

Ultrasound

The following abnormalities may be associated with Down syndrome on ultrasound:

Echocardiography

  • To view the Echocardiographic changes of Atrial septal defect click here
  • To view the Echocardiographic changes of Ventricular septal defect click here
  • To view the Echocardiographic changes of Atrioventricular septal defect click here
  • To view the Echocardiographic changes of Patent ductus arteriosus click here

References

  1. Roizen, Nancy J.; Magyar, Caroline I.; Kuschner, Emily S.; Sulkes, Steven B.; Druschel, Charlotte; van Wijngaarden, Edwin; Rodgers, Lisa; Diehl, Alison; Lowry, Richard; Hyman, Susan L. (2014). "A Community Cross-Sectional Survey of Medical Problems in 440 Children with Down Syndrome in New York State". The Journal of Pediatrics. 164 (4): 871–875. doi:10.1016/j.jpeds.2013.11.032. ISSN 0022-3476.
  2. Tubman TR, Shields MD, Craig BG, Mulholland HC, Nevin NC (June 1991). "Congenital heart disease in Down's syndrome: two year prospective early screening study". BMJ. 302 (6790): 1425–7. PMC 1670107. PMID 1829969.
  3. Caro, Milagros; Conde, Diego; Pérez-Riera, Andrés R.; de Almeida, Adail P.; Baranchuk, Adrian (2014). "The electrocardiogram in Down syndrome". Cardiology in the Young. 25 (01): 8–14. doi:10.1017/S1047951114000420. ISSN 1047-9511.

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