Echogenic fetal bowel seen on ultrasound is a soft marker for Trisomy 21 and other conditions. It can be associated with intra-amniotic hemorrhage, aneuploidy like Trisomy 21, intra-uterine CMV infection, cystic fibrosis, fetal growth restriction, gastrointestinal obstruction, and rare etiologies. Down syndrome presents with physical features like depressed nasal bridge and simian crease. Congenital CMV infection can cause brain damage, jaundice, and deafness. Cystic fibrosis affects the lungs, liver, and pancreas due to a defective gene. Fetal growth restriction increases the risk of fetal demise. Gastrointestinal obstruction encompasses conditions like biliary

1. Echogenic fetal bowel
20150109

2. Introduction
● a soft marker for Trisomy 21
● 0.2-1.8% in 2nd trimester
● commonly seen in the right lower quadrant

3. Associations
● intra-amniotic haemorrhage (the commonest)
● Aneuploidy (Trisomy 21)
● intra-uterine CMV infection
● cystic fibrosis
● Fetal growth restriction
● Gastrointestinal obstruction
● Rare etiologies
● fetal death in utero (FDIU) serum alpha fetoprotein

4. Down syndrome
● trisomy 21
Clinical presentation
● depressed nasal bridge
● epicanthic folds
● abundant neck skin
● macroglossia
● simian crease (single palmar crease)
● hypotonia
http://radiopaedia.org/articles/down-syndrome

5. Down syndrome

6. Congenital cytomegalovirus infection
● cytomegalovirus (CMV)
● 0.2-2.4%
● intra-uterine infection
● congenital infective
● brain damage
● Antibodies to CMV in 30-60%
● only 2.5% primary infection during pregnancy

7. Congenital cytomegalovirus infection
Clinical presentation
● jaundice/hepatomegaly/splenomegaly
● microcephaly
● chorioretinitis
● petechiae
● deafness
● seizures
DNA virus in the herpesvirus family
TORCH infections

8. Congenital cytomegalovirus infection
Ultrasound
Brain
● fetal intracranial calcification
● fetal hydrocephalus
● heterogeneous appearing parenchyma
● microcephaly
● intraventricular adhesions
Others
● fetal intra-hepatic calcification
● fetal hepatomegaly
● IUGR
● echogenic bowel

9. Cystic fibrosis
● autosomal recessive genetic disease
● affects the exocrine function (lungs, liver, pancreas and
small bowel)
● multi-system failure
● 1/2000 ~ 1/3500
● defect of the Cystic Fibrosis Transmembrane Regulator
(CFTR) (gene on chromosome 7q31.2)
● echogenic bowel on antenatal ultrasound
● genetic testing of the parents
● sweat test (positive sweat chloride test Cl > 60 mEq/L)

10. Cystic fibrosis
Clinical presentation
● meconium ileus
● rectal prolapse
● recurrent pulmonary infection
*absence of gallbladder
“linear echogenic structure”

11. Fetal growth restriction
● weight <25% : 10-fold higher than weight ≥25%
● mesenteric ischemia
● with elevated MSAFP: greatest risk factor for fetal
demise

12. Gastrointestinal obstruction
● biliary duct atresia
● bowel or anal atresia
● volvulus
● cloacal defect
Hirschsprung disease

13. Gastrointestinal obstruction
Hirschsprung disease
● 先天性巨結腸症
● 大腸肌肉層缺少副交感神經節 (5~12wks)
● 1/5000 M:F = 4:1
● 自體顯性遺傳

14. Rare etiologies
● alpha-thalassemia(bowel edema from severe
anemia and hypoxemia)
● visceral malformations (not involving the
gastrointestinal tract)

15. degree of echogenicity
not commonly used

16. Isolated echogenic bowel: 75% normal outcome
falsely increased bowel echogenicity:
● high transducer frequency
● meconium containing bowel in 3rd trimester

17. Differential diagnosis
● gastric pseudo-mass
● meconium peritonitis
● meconium "pseudocyst"
http://www.uptodate.com/contents/image?imageKey=OBGYN%2F59852~OBGYN%2F58207&topicKey=OBGYN%2F420&source=see_link

18. Refference
CMV
http://radiopaedia.org/articles/congenital-cytomegalovirus-infection
Congenital cytomegalovirus infection
http://radiopaedia.org/articles/congenital-cytomegalovirus-infection
Cystic fibrosis
http://radiopaedia.org/articles/cystic-fibrosis
Echogenic fetal bowel
http://radiopaedia.org/articles/echogenic-fetal-bowel
http://www.uptodate.com/contents/fetal-echogenic-bowel