What are the novel findings of this work?We calculated the rate of clinically significant chromosomal microarray analysis (CMA) findings in low-risk pregnancies, i.e. pregnancies with normal ultrasound (US) at the time of genetic testing, and found that the rate was relatively high. In addition, we documented later-appearing abnormal US findings and pregnancy outcome in these cases. What are the clinical implications of this work?The findings of this study allow an in-depth understanding of the yield of CMA and the impact of CMA results in pregnancies with normal US at the time of genetic testing. This may affect policy regarding CMA for low-risk pregnancies as well as counseling for prospective parents regarding the test and its possible results.

Objective To investigate the impact of the SARS‐CoV‐2 mRNA BNT162b2 vaccine on women’s menstural cycle. Methods In this questionnaire‐based cross‐sectional study, we assessed menstrual pattern and changes of women who completed the SARS‐CoV‐2 mRNA BNT162b2 vaccine three months before and after receiving the vaccine. Included were women aged 18‐50 without known gynecological comorbidities who regularly monitor their menstruation through electronic calendars. All participants competed a detailed questionnaire on their menstrual symptoms including information on any irregular bleeding. To minimize bias, each woman served as a self‐control before and after vaccination. Primary outcome was rate of irregular bleeding following vaccination and secondary outcome was presence of any menstrual change, including irregular bleeding, mood changes or dysmenorrhea following the vaccine. Results A total of 219 women met the inclusion critieria. Of them, 23.3% (n=51) experienced irregular bleeding following the vaccine. Almost 40% (n=83) of study participants reported any menstrual change following vaccination. Parity was positively asssociated with irregular bleeding with 50% (n=26) of those suffering from irregular bleeding being multiparous as compared to only 31.5% (n=53) of women with no irregular bleeding (nulliparous 46% vs 60%, multiparous 50% vs 31%, rest 4% vs 8%, p=0.049). The presence of medical comorbidities was also significantly higher among patients who experienced irregular bleeding (20.0% vs 6.0%, p=0.003). Conclusion Our study shows relatively high rates of irregular bleeding and menstrual changes after receiving the SARS‐CoV‐2 mRNA BNT162b2 vaccine. Further research is needed to confirm our findings and to better characterize the magnitude of change and any possible long term implications.

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Purpose of review Chromosomal-microarray analysis (CMA) is the first-tier test in pregnancies with structural malformations. Accumulating data show that pathogenic copy number variants (CNVs) can also be identified in structurally normal fetuses. We set out to summarize the published data on the diagnostic yield of CMA in structurally normal fetuses. Recent findings Six studies summarize a total of 29,612 prenatal CMAs performed in structurally normal fetuses. The incidence of highly penetrant pathogenic/likely pathogenic CNVs is 0.4–2.5%. Variability was demonstrated in the timing of CMA testing and type of CNVs classified as pathogenic. The incidence of variants of uncertain significance is 0.4–5.4%. The prevalence of susceptibility loci is 0.3–0.7% when specified, and the incidence of CNVs associated with late onset disease is 0.1%. Summary With a frequency of abnormal CNVs of 1:40 to 1:250 in structurally normal fetuses, it is recommended that all pregnant women be informed of the possibility to have CMA performed, even in the absence of malformations. Information should also be provided about uncertain and secondary findings.

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