Introduction. More recently, the regions of increased abdominal echogenicity
such as echogenic bowel, meconium ileus and meconium peritonitis have been
associated with an increased prevalence of a variety of unfavourable outcomes
including chromosomal abnormalities, cytomegalovirus infection, intestinal
obstruction, anorectal malformations and cystic fibrosis. Earlier prenatal
examinations of these severe autosomal recessive diseases had been suggested
only to families with history of cystic fibrosis. Recently, systemic
examination has been introduced by ultrasound with bowel hyperechogenicity
where the fetus is the index case for genetic disease. Risk for cystic
fibrosis with this ultrasonography findings ranges from 0-33%. Outline of
Cases. Two patients are presented, aged 24 and 29 years, both primigravide.
The first one had ultrasonography finding of meconium peritonitis revealed at
the 37th week of gestation and the other meconium ileus revealed on
ultrasonography at the 29th week of gestation. Both patients had prenatal
testing of foetal blood obtained by cordocenthesis, both had normal kariotype
and were negative for cytomegalovirus infection. Parental DNA testing for the
2nd patient showed that parents were not carriers for the 29 most frequent
mutations. Both neonates had intestinal obstruction, underwent surgery and
early postoperative course was normal. Hystopathological finding suggested a
possibility of cystic fibrosis for the 1st patient, but parents did not want
to be tested and for the 2nd one congenital bowel stenosis as a cause of
intestinal obstruction. Conclusion. Ultrasonographic echogenic bowel is an
indication for invasive procedures for foetal blood testing for chromosomal
abnormalities, congenital infections and parental testing for cystic
fibrosis. Only if parental heterozygosity is proven foetus should be tested.
Prenatal diagnosis of meconium ileus and meconium peritonitis: Indications for cystic fibrosis testing
