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.
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.
What are the novel findings of the work?Selective termination of the presenting twin in dichorionic diamniotic twin pregnancy was associated with a higher rate of adverse outcome, including postprocedure complications and pregnancy loss, compared with termination of the non-presenting twin. What are the clinical implications of the work?When a discordant fetal anomaly is diagnosed in a dichorionic diamniotic twin pregnancy, management options should be discussed with the parents. If selective termination is appropriate, the position of the affected fetus should be taken into consideration.
Objective To compare operative data and patient satisfaction between open and laparoscopic surgery for postpartum‐diagnosed uterine rupture. Methods In this questionnaire‐based cohort study, the authors collected all cases of postpartum‐diagnosed uterine rupture after vaginal delivery between 2016 and 2020 in a single academic tertiary center. The cohort was divided according to surgical method of repair, and demographic, clinical, operative and postoperative data were collected and compared between groups. A phone questionnaire on various satisfaction domains was conducted and satisfaction rates were compared between groups. Results Eight cases of uterine rupture following vaginal delivery were treated by laparoscopy and eight were treated by laparotomy. The median operative time was 103 min (interquartile range [IQR], 86.3–129.0 min) for the laparoscopy group and 61 min (IQR, 59.0–75.0 min) for the laparotomy group (P = 0.04). Blood transfusion was required in 25% of women who underwent laparoscopy, as compared with 88% of women who underwent laparotomy (P = 0.01 < 0.05). Median hospitalization time was 3 days (IQR, 3–4 days) in the laparoscopy group and 4 days (IQR, 4–4 days) in the laparotomy group (P = 0.2). Overall satisfaction, satisfaction from recovery, satisfaction from scars, satisfaction from ability to care for the neonate, and postoperative pain and mood were all improved in the laparoscopy group, as compared with the laparotomy group. Conclusion Minimally invasive surgery is a viable surgical option for patients with uterine rupture diagnosed after vaginal delivery and may result in better patient recovery and satisfaction.
The strategy of chromosomal microarray analysis (CMA) for all is attractive due to its high accuracy, giving couples a precise answer regarding a wide variety of potentially devastating genetic diseases/syndromes in their fetus, allowing them to make important choices about the pregnancy, including the option for pregnancy termination.The discovery of ambiguous findings, with the obvious disadvantage of causing anxiety for the family, necessitates pretest genetic counseling for all. Apparently, not all patients who seek 'the best test for the fetus' really understand the robustness and resolution of CMA. One possibility is that, after receiving a thorough explanation regarding the capabilities of CMA, including the identification of variants of uncertain significance and susceptibility loci, couples may choose not to undergo the test or limit the extent of its results. An unwanted scenario in this setup is having an unexpected CMA result for which the couple was not prepared, and this should be prevented by mandatory pretest explanation. Some of these ambiguous CMA findings have the added value of increased vigilance for developmental delay in affected children, with the option, in some instances, for early intervention, which may improve outcome.We believe that the timing of invasive prenatal diagnosis should be relatively early in pregnancy, either by chorionic villus sampling or amniocentesis performed as early as safely allowed. However, as some sonographic signs will appear later in gestation, pathogenic results might be diagnosed by CMA in apparently 'low-risk' cases in which conservative follow-up could have identified anatomical findings requiring prenatal testing according to conventional criteria.As Baert et al. stated, the cost of the procedure is similar to the cost of non-invasive prenatal testing (NIPT), and the total expenditure of a CMA-for-all strategy may be lower than that of a screening-based strategy when taking into account possible postnatal costs. Future policies may provide genome-wide NIPT as the recommended screening test and CMA as the diagnostic test of choice. This discussion does not deal with the capabilities of exome sequencing for low-risk pregnancies, which, to date, is a modality used in the prenatal setup almost exclusively for the investigation of cases of fetal malformation with negative CMA.Despite the many advantages of CMA for all, we agree with Baert et al. that each couple should be offered all the available options for prenatal screening and diagnosis with proper consultation, and choose the most suitable option for them. Some couples, who would not consider pregnancy termination given even severe genetic findings for cultural or religious reasons, may decline an invasive test or even screening, and this is a legitimate choice that should be respected by caregivers.
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