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Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally
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  • Keren Tzadikevitch Geffen,
  • Amihood Singer,
  • Idit Maya ,
  • Lena Sagi-Dain,
  • Morad Khaat,
  • Shay Ben-Shachar,
  • Hagit Daum,
  • Rachel Michaelson-Cohen,
  • Michal Feingold-Zadok,
  • Rivka Sukenik Halevy
Keren Tzadikevitch Geffen
Meir Medical Center
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Amihood Singer
Community Genetics, Public Health Services, Ministry of Health, Jerusalem
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Idit Maya
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Lena Sagi-Dain
Carmel Medical Center
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Morad Khaat
Emek Medical Center
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Shay Ben-Shachar
Tel Aviv Sourasky Medical Center
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Hagit Daum
Hadassah Medical Center Hebrew University Biotechnology Park
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Rachel Michaelson-Cohen
Shaare Zedek Medical Center
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Michal Feingold-Zadok
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Rivka Sukenik Halevy
Rabin Medical Center
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Abstract

Objectives: To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound. Design: A retrospective study. Setting: The study was based on national records from the Israeli Ministry of Health. Sample: Chromosomal microarray analyses performed nationwide, during January 2016 to March 2018, for the indication of prenatal diagnosis of short long bones (n=66). Methods: Clinical data was retrieved from genetic counselling summary letters and from patients’ medical records. The CMA yield was compared to two cohorts that reported the background risk. Main outcome measure: Pathogenic/likely pathogenic CMA. Results: There were 4 cases with a pathogenic/likely pathogenic result (6%). The rate of chromosomal abnormalities was significantly higher compared to the background risk for copy number variations (CNVs) [P<0.001], [odds ratio (OR) 4.5, 95% CI 1.6-12.7], [OR 5.8, 95% CI 2-16.2], for both isolated [OR 6.1, 95% CI 1.4-26], [OR 7.8, 95% CI 1.8-33.5], and non-isolated cases[OR 10, 95% CI 2.2-44], [OR 12.8, 95% CI 2.9-57], , and for cases in which the lowest estimated bone length percentile was above the 3rd percentile (below 5th percentile) [OR 23, 95% CI 6.2-87], [OR 29.9, 95% CI 8-111], . Conclusion: The yield of CMA in cases with short long bones (both isolated and non-isolated) is significantly higher than the background risk for chromosomal anomalies in pregnancies with no sonographic anomalies. This suggests that CMA should be offered in pregnancies with a diagnosis of fetal short long bones.