The yield of chromosomal microarray testing for cases of abnormal fetal head circumference
-
Yael Pasternak
,
Amihood Singer
Abstract
Objectives
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).
Methods
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.
Results
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%).
Conclusions
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.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Research funding: None declared.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The study was approved by the Helsinki Ethics Committee – approval no. MOH2016.
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©2020 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review
- Exercise during pregnancy: a comparative review of guidelines
- Corner of Academy
- Women’s decisional conflict in the pathway of prenatal screening and testing: an explorative study within Finnish public maternity care
- Vascular anastomoses in intrauterine growth in monochorionic twins
- Effects of coronavirus 19 pandemic on maternal anxiety during pregnancy: a prospectic observational study
- Letter to the Editor
- Giving birth and dying alone in hospital during the COVID-19 pandemic – a time for shifting paradigm toward continuity of care
- Original Articles – Obstetrics
- The yield of chromosomal microarray testing for cases of abnormal fetal head circumference
- Expert advice about therapeutic exercise during pregnancy reduces the symptoms of sacroiliac dysfunction
- Trends of changes in the specific contribution of selected risk factors for shoulder dystocia over a period of more than two decades
- Birth tears after spontaneous and vacuum-assisted births with different vacuum cup systems – a retrospective cohort study
- Prevalence of vitamin D deficiency in Egyptian patients with pregnancy-induced hypertension
- Antenatal survey of women’s birthing choices in Qatar
- Original Article – Fetus
- Reference ranges for the fetal mitral, tricuspid, and interventricular septum annular plane systolic excursions (mitral annular plane systolic excursion, tricuspid annular plane systolic excursion, and septum annular plane systolic excursion) between 20 and 36 + 6 weeks of gestation
- Original Articles – Newborns
- Prediction of extubation success using the diaphragmatic electromyograph results in ventilated neonates
- Use of birth weight- vs. ultrasound-derived fetal weight classification methods: implications for detection of abnormal umbilical artery Doppler
- Investigating the preventive effect of vitamins C and E on preeclampsia in nulliparous pregnant women
- Monitoring the incidence, duration and distribution of hyperglycaemia in very-low-birth-weight newborns and identifying associated factors
Artikel in diesem Heft
- Frontmatter
- Review
- Exercise during pregnancy: a comparative review of guidelines
- Corner of Academy
- Women’s decisional conflict in the pathway of prenatal screening and testing: an explorative study within Finnish public maternity care
- Vascular anastomoses in intrauterine growth in monochorionic twins
- Effects of coronavirus 19 pandemic on maternal anxiety during pregnancy: a prospectic observational study
- Letter to the Editor
- Giving birth and dying alone in hospital during the COVID-19 pandemic – a time for shifting paradigm toward continuity of care
- Original Articles – Obstetrics
- The yield of chromosomal microarray testing for cases of abnormal fetal head circumference
- Expert advice about therapeutic exercise during pregnancy reduces the symptoms of sacroiliac dysfunction
- Trends of changes in the specific contribution of selected risk factors for shoulder dystocia over a period of more than two decades
- Birth tears after spontaneous and vacuum-assisted births with different vacuum cup systems – a retrospective cohort study
- Prevalence of vitamin D deficiency in Egyptian patients with pregnancy-induced hypertension
- Antenatal survey of women’s birthing choices in Qatar
- Original Article – Fetus
- Reference ranges for the fetal mitral, tricuspid, and interventricular septum annular plane systolic excursions (mitral annular plane systolic excursion, tricuspid annular plane systolic excursion, and septum annular plane systolic excursion) between 20 and 36 + 6 weeks of gestation
- Original Articles – Newborns
- Prediction of extubation success using the diaphragmatic electromyograph results in ventilated neonates
- Use of birth weight- vs. ultrasound-derived fetal weight classification methods: implications for detection of abnormal umbilical artery Doppler
- Investigating the preventive effect of vitamins C and E on preeclampsia in nulliparous pregnant women
- Monitoring the incidence, duration and distribution of hyperglycaemia in very-low-birth-weight newborns and identifying associated factors
