To analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios.
Data from all chromosomal microarray analyses (CMA) performed due to polyhydramnios between January 2013 and December 2019 were retrospectively obtained from the Ministry of Health Database. The rate of clinically significant (pathogenic and likely pathogenic) CMA findings in isolated and non-isolated polyhydramnios cohorts was compared to a local control group of 5541 fetuses with normal ultrasound, in which 78 (1.4%) abnormal results were demonstrated. Subgroup analyses were performed by the degree of polyhydramnios, week of diagnosis, maternal age, and the presence of additional sonographic anomalies.
In the isolated polyhydramnios cohort, 19/623 (3.1%) clinically significant CMA aberrations were noted, a significantly higher rate compared to the control population. However, the risk for abnormal CMA results in the 158 cases with mild polyhydramnios (AFI 25–29.9, or maximal vertical pocket 8–11.9 cm) did not significantly differ from pregnancies with normal ultrasound. Of 119 cases of non-isolated polyhydramnios (most frequently associated with cardiovascular (26.1%) and brain (15.1%) anomalies), 8 (6.7%) abnormal CMA findings were noted, mainly karyotype-detectable.
Mild polyhydramnios was not associated with an increased rate of clinically significant microarray results, compared to pregnancies with normal ultrasound. An extensive anatomical sonographic survey should be performed in pregnancies with polyhydramnios, with consideration of fetal echocardiography.
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Amniotic fluid index
Chromosomal microarray analysis
Copy number variants
Maximal vertical pocket
Variants of unknown significance
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We are grateful to all Israeli genetic counselors and laboratory workers engaged in prenatal evaluation of fetal malformations, who made this study possible.
No financial support of funding was received for this work.
Conflict of interests
All authors declare that they have no conflicts of interests.
The study was approved by the Institutional Review Board Committee (Helsinki Committee) for Human Subjects (date of issue—September 6, 2016, registration number—MOH2016). No informed consent was required due to the retrospective nature of data acquisition.
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Sagi-Dain, L., Singer, A., Falik-Zaccai, T. et al. The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies. Arch Gynecol Obstet (2021). https://doi.org/10.1007/s00404-021-05995-y
- Prenatal diagnosis