Accessible Unlicensed Requires Authentication Published by De Gruyter April 28, 2020

The yield of chromosomal microarray testing for cases of abnormal fetal head circumference

Yael Pasternak ORCID logo, Amihood Singer, Idit Maya, Lena Sagi-Dain, Shay Ben-Shachar, Morad Khayat, Lior Greenbaum, Michal Feingold-Zadok, Sharon Zeligson and Rivka Sukenik Halevy



Chromosomal microarray analysis (CMA) is the method of choice for genetic work-up in cases of fetal malformations. We assessed the detection rate of CMA in cases of abnormal fetal head circumference (HC).


The study cohort was based on 81 cases of amniocenteses performed throughout Israel for the indication of microcephaly (53) or macrocephaly (28), from January 2015 through December 2018. We retrieved data regarding the clinical background, parental HCs and work-up during the pregnancy from genetic counseling summaries and from patients’ medical records.


There was only one likely pathogenic CMA result (1.89%): a 400-kb microdeletion at 16p13.3 detected in a case of isolated microcephaly. No pathogenic results were found in the macrocephaly group. Most fetuses with microcephaly were female (87.8%), while the majority with macrocephaly were males (86.4%).


The results imply that CMA analysis in pregnancies with microcephaly may carry a small yield compared to other indications. Regarding macrocephaly, our cohort was too small to draw conclusions. In light of the significant gender effect on the diagnosis of abnormal HC, standardization of fetal HC charts according to fetal gender may normalize cases that were categorized outside the normal range and may increase the yield of CMA for cases of abnormal HC.

Corresponding author: Yael Pasternak, Yael Pasternak, Department of Obstetrics and Gynecology, Meir Medical Center, 59 Tchernichovsky St., Kfar Saba, Israel; and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, Phone: +972-97472232, Fax: +972-9-7472465

  1. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  2. Research funding: None declared.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The study was approved by the Helsinki Ethics Committee – approval no. MOH2016.


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Received: 2020-02-09
Accepted: 2020-04-06
Published Online: 2020-04-28
Published in Print: 2020-07-28

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