Isolated echogenic bowel in prenatal diagnosis and chromosomal abnormalities.

chromosomal abnormalities prenatal diagnosis echogenic bowel

A, Elvan

Nature of the research:
Retrospective cohort study.

Fields of study:
obstetrics genetics

Background / introduction
Foetal echogenic bowel is a subjective soft marker and associated with chromosomal abnormalities. The incidence is 0.2-1.8% in pregnancy.
Women with foetal echogenic bowel are offered invasive prenatal diagnosis.
We have databases of cases with fetal echogenic bowel in the UMCG and we question offering invasive testing in the isolated cases with echogenic bowel.
Research question / problem definition
Is invasive testing necessary in pregnancies with isolated fetal echogenic bowel.
Merge 2 databases with cases of echogenic bowel. Evaluate the chromosomal diagnosis for isolated cases and neonatal outcome.
Analyze the data. Write an article.
Grijseels et al. Sonomarkers: subtle ultrasound findings in the 20-week ultrasound examination, which have a low association with some chromosomal and non-chromosomal abnormalities in the fetus. Nederlands tijdschrift voor geneeskunde 2008.

D'Amico A et al. Outcome of fetal echogenic bowel: a systematic review and meta-analysis. Prenatal diagnosis 2020.

Buiter HD et al. Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy. Archives of Disease in Childhood - Fetal and Neonatal Edition 2013.
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