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Microarray Analysis for Saccharomyces cerevisiae
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Microarray analysis in pregnancies with isolated echogenic bowel.

Amihood Singer1, Idit Maya2, Arie Koifman3

  • 1Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

Early Human Development
|March 10, 2018
PubMed
Summary
This summary is machine-generated.

Isolated echogenic bowel in fetuses does not increase the risk for clinically significant chromosomal microarray analysis (CMA) findings. This suggests CMA evaluation for isolated echogenic bowel should be similar to pregnancies with normal ultrasounds.

Keywords:
Chromosomal aberrationsChromosomal microarrayFetal echogenic bowel

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Area of Science:

  • Prenatal Diagnosis
  • Medical Genetics
  • Fetal Ultrasound

Background:

  • Fetal echogenic bowel is a common ultrasound finding, occurring in about 1% of pregnancies.
  • Current evaluation includes maternal serology, cystic fibrosis testing, detailed anatomy scans, and invasive prenatal testing.
  • The significance of isolated echogenic bowel for chromosomal abnormalities requires further investigation.

Purpose of the Study:

  • To evaluate the risk of clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated fetal echogenic bowel.

Main Methods:

  • Retrospective analysis of CMA data from isolated echogenic bowel cases reported to the Israeli Ministry of Health (2013-2016).
  • Risk estimation compared abnormal CMA rates in the study group to control populations from a systematic review and a local cohort.
  • Control groups included 9272 pregnancies from a systematic review and 5541 fetuses undergoing CMA for maternal request with normal ultrasounds.

Main Results:

  • Two pathogenic findings (47,XYY and 16p11.2 duplication) were detected in 103 CMA analyses (1.94%).
  • This detection rate was not significantly elevated compared to control groups.
  • Three variants of unknown significance were also identified.

Conclusions:

  • This study is the first to report the rate of clinically significant copy number variants in isolated echogenic bowel pregnancies.
  • Pregnancies with isolated echogenic bowel do not appear to have an increased risk for abnormal CMA compared to fetuses without sonographic anomalies.
  • The decision to perform CMA in isolated echogenic bowel cases should align with recommendations for pregnancies with normal ultrasounds.