Sumathi I. Rachamadugu , Kristen A. Miller , Ina H. Lee , Ying S. Zou
{"title":"Genetic detection of congenital heart disease","authors":"Sumathi I. Rachamadugu , Kristen A. Miller , Ina H. Lee , Ying S. Zou","doi":"10.1016/j.gocm.2022.07.005","DOIUrl":"10.1016/j.gocm.2022.07.005","url":null,"abstract":"<div><p>Congenital heart disease (CHD) is the most common congenital anomaly and is an important cause of infant morbidity and mortality. Besides the epigenetic and environmental basis of CHD, genetics plays a central role in CHD pathogenesis. Traditional genetic testing strategies including conventional chromosome analysis, fluorescence <em>in situ</em> hybridization, and Sanger sequencing have largely focused on syndromic CHD or selected CHD phenotypes that are strongly associated with a particular genotype. The landscape of clinical genetic testing in CHD is rapidly evolving due to technical advances in genetic testing, including the identification of copy number variants by chromosomal microarray and nucleotide level alterations/variants by next-generation sequencing (NGS), which are essential to detect genetic causes of CHD and identify associations between genotypes and longitudinal clinical phenotypes. Whole-exome and whole-genome NGS not only reveal pathogenic variants in CHD genes, but also identify non-coding variants that influence the expression of CHD genes. Given the increasing availability and cost-effectiveness of clinical NGS to provide information on the causes of CHD and to detect incidental findings that are clinically actionable, the guidance of genetic counselors or experienced clinicians is essential. The identification of definitive causal CHD variants influences patient care and helps to inform the risk of recurrence, prenatal genetic counseling, and pre-implantation testing for the family of a CHD infant and adults with repaired/palliated CHD. Prenatally, circulating cell-free DNA screening as a non-invasive approach is available as early as 9 weeks of gestation and can screen for the common aneuploidies, which may underlie CHD. In this review, we present past and recent genetic testing in CHD based on our increased understanding of the pathogenesis of CHD along with current challenges with the interpretation of <em>de novo</em> genetic variants. Identification of a genetic diagnosis can help to predict and potentially improve clinical outcomes in CHD patients.</p></div>","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 109-123"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000574/pdfft?md5=c21f5b7697b9cbf6ba9657c84177bf52&pid=1-s2.0-S2667164622000574-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43505029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alaa Daher , Obey Albaini , Lauren Siff , Stephanie Farah , Karl Jallad
{"title":"Intimate hygiene practices and reproductive tract infections: A systematic review","authors":"Alaa Daher , Obey Albaini , Lauren Siff , Stephanie Farah , Karl Jallad","doi":"10.1016/j.gocm.2022.06.001","DOIUrl":"10.1016/j.gocm.2022.06.001","url":null,"abstract":"<div><h3>Introduction</h3><p>Worldwide, women perform a variety of vaginal practices to enhance their intimate hygiene and sexual health.</p></div><div><h3>Objective</h3><p>To conduct a systematic review to assess the different kinds of intimate hygiene practices and their association with reproductive tract infections and complications.</p></div><div><h3>Methods</h3><p>PubMed, Medline and The Cochrane Library were used. Both observational and interventional studies targeting the urogenital infections and their association with hygiene practices were included. Exclusion criteria included studies that assessed the knowledge and attitudes towards intimate hygiene practices rather than their relation to infections. The design of this systematic review complied with the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA).</p></div><div><h3>Results</h3><p>Fifteen articles were included. Intravaginal practices were found to be associated with reproductive tract infections. Reusable absorbent material used during menstruation increased the risk of Candida infection with an adjusted proportional reported ratio (aPRR) of 1.54 (95% CI 1.2–2.0), but no association with bacterial vaginosis or <em>trichomonas vaginalis</em> infection was noted. Bathing or vaginal washing during menstruation with water only showed a higher association with symptoms of urogenital infections when compared with washing with both soap and water during menstruation. Drying reusable pads inside the house and storing them inside the toilet was found to be associated with a higher candida infection prevalence. Moreover, bathing in sitting position during menstruation, not drying the genital area or using cloth for drying it, and not paying attention to hand washing, were all associated with a higher risk of genital infections. Finally, postpartum use of native homemade vaginal preparations might be a risk factor for ascending vaginal infections, and the use of inappropriate material for menstrual blood absorption was associated with secondary infertility.</p></div><div><h3>Conclusion</h3><p>Several hygiene practices put women at higher risk for reproductive tract infections. We should continue to increase awareness to counter the misinformation resulting from marketing campaigns and common misconceptions.</p></div>","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 129-135"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000525/pdfft?md5=6c00b6cf9e1e01c26c3631a0ff025398&pid=1-s2.0-S2667164622000525-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44350375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Landry W. Tchuenkam , Anicet FN. NGate , Joel Noutakdie Tochie , Fetsus T. Wirwah , Flobert Titcheu , Axel S. Nwaha Makon
{"title":"Persistent interstitial pregnancy diagnosed after two unsuccessful attempts of clandestine abortion: A case report and literature review","authors":"Landry W. Tchuenkam , Anicet FN. NGate , Joel Noutakdie Tochie , Fetsus T. Wirwah , Flobert Titcheu , Axel S. Nwaha Makon","doi":"10.1016/j.gocm.2022.04.007","DOIUrl":"10.1016/j.gocm.2022.04.007","url":null,"abstract":"","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 153-156"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000306/pdfft?md5=cb19f57eee66ea4b3923a8b4c7ef19c7&pid=1-s2.0-S2667164622000306-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48357687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Analysis of risk factors related to severe postpartum hemorrhage of twin pregnancies delivered by cesarean section","authors":"Fufen Yin , Ruixue Li , Junshu Xie , Xiaohong Zhang","doi":"10.1016/j.gocm.2022.07.002","DOIUrl":"10.1016/j.gocm.2022.07.002","url":null,"abstract":"<div><h3>Objective</h3><p>To investigate the risk factors of severe postpartum hemorrhage (PPH) in cesarean section of twin pregnancy, and to provide clinical basis for pregnancy management and perioperative obstetric management of twin pregnancy.</p></div><div><h3>Methods</h3><p>The clinical data of 631 twin pregnancies with gestational age ≥28 weeks delivered by cesarean section at Peking University People's Hospital (PKUPH) from January 2004 to January 2017 were retrospectively analyzed. Methods of conception, the combined weight of twins, serum albumin level before cesarean section, operation time and other factors on the amount of blood loss during cesarean section were analyzed.</p></div><div><h3>Results</h3><p>The proportion of severe PPH was significantly higher in in vitro fertilization-embryo transfer (IVF-ET) group, the combined weight of twins > 6000g group, serum albumin before cesarean section < 30 g/dl group than in the natural pregnancy group, 4000–6000g group, < 4000g group and serum albumin ≥30 g/dl group respectively (P < 0.05). The proportion of severe PPH in the elective surgery group of twin pregnancy was higher than that in the emergency surgery group, but the difference was not statistically significant (P > 0.05). Moreover, according to the surgical indications, the emergency surgery group was divided into premature rupture of membranes (PROM), labor, fetal distress and others groups, no significant difference were detected among these groups (P>0.05).</p></div><div><h3>Conclusion</h3><p>IVF-ET, the combined weight of twins, serum albumin before operation were significantly correlated with severe PPH of twin pregnancies delivered by cesarean section, revealing that it is necessary to strengthen pregnancy management of twin pregnancy.</p></div>","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 136-140"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000550/pdfft?md5=8af4420f2619570d38de829879cec474&pid=1-s2.0-S2667164622000550-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49241483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rafael Everton Assunção Ribeiro da Costa , Luis Felipe Rodrigues Brandão de Barros , Raimundo Gerônimo da Silva Júnior , Eugênio de Sá Coutinho Neto , Eid Gonçalves Coelho , Carlos Eduardo Coelho de Sá
{"title":"Proximal-type epithelioid sarcoma of the vulva initially misdiagnosed as Bartholin cyst: A case report","authors":"Rafael Everton Assunção Ribeiro da Costa , Luis Felipe Rodrigues Brandão de Barros , Raimundo Gerônimo da Silva Júnior , Eugênio de Sá Coutinho Neto , Eid Gonçalves Coelho , Carlos Eduardo Coelho de Sá","doi":"10.1016/j.gocm.2022.07.006","DOIUrl":"10.1016/j.gocm.2022.07.006","url":null,"abstract":"","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 157-159"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000586/pdfft?md5=9356e71a70729c9da2921784c6b80398&pid=1-s2.0-S2667164622000586-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43025725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhao Tian , Jin Lai , Qing-Jie Zhai , Yi Li , Yue Wang , Xiao-Hong Chang , Hong-Lan Zhu , Heng Cui
{"title":"Influence of previous laparoscopic surgical and pathological diagnosis of endometriosis on pregnancy outcomes in women with adenomyosis","authors":"Zhao Tian , Jin Lai , Qing-Jie Zhai , Yi Li , Yue Wang , Xiao-Hong Chang , Hong-Lan Zhu , Heng Cui","doi":"10.1016/j.gocm.2022.07.001","DOIUrl":"10.1016/j.gocm.2022.07.001","url":null,"abstract":"<div><h3>Objectives</h3><p>Previous studies demonstrated that endometriosis and adenomyosis are closely linked to lots of adverse pregnancy outcomes while the role of endometriosis in pregnant women with adenomyosis has not been explored yet. The present study aimed to evaluate the influence of previous laparoscopic surgical and pathological diagnosis of endometriosis on pregnancy outcomes in women with adenomyosis.</p></div><div><h3>Methods</h3><p>A total of 60 pregnant women who were diagnosed with adenomyosis before or during pregnancy were included in this study. Among them, 8 were also diagnosed with endometriosis by previous laparoscopic surgery. The demographic characteristics and pregnancy outcomes were compared between women with adenomyosis only and those with the surgical history of endometriosis.</p></div><div><h3>Results</h3><p>Compared with women with adenomyosis only, those concomitant with the surgical history of endometriosis had significantly higher age at delivery [37.5(36.25–39.75) vs. 35(33.25–37), P = 0.016] and an increased risk of postpartum hemorrhage (PPH) (adjusted OR: 5.992, 95% CI: 1.03–34.857, P = 0.046) while no significant differences were found in other adverse pregnancy outcomes between these two groups. Then we further detected the risk factor of PPH in women with adenomyosis and found that the surgical history of endometriosis (OR: 6.995, 95% CI: 1.16–42.171, P = 0.034) and assisted reproductive technology (ART) (OR: 5.062, 95% CI: 1.494–17.146, P = 0.009) were the parameters closely associated with the occurrence of PPH.</p></div><div><h3>Conclusions</h3><p>The history of previous laparoscopic surgical and pathological diagnosis of endometriosis in pregnant women with adenomyosis may increase the risk of PPH, which still needs to be verified by future studies with a large sample size. Besides, pregnancy through ART is also an increased risk factor for PPH in women with adenomyosis. Pregnant women with adenomyosis who conceived with the surgical history of endometriosis or by ART should be closely monitored for the reason of being at high risk of PPH.</p></div>","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 147-150"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000562/pdfft?md5=7a0227a13b865e5b9d634d46b9560d78&pid=1-s2.0-S2667164622000562-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42679050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emmanuel Lamptey , Ephraim Kumi Senkyire , Moses Tia Banoya , Stanley Yaidoo
{"title":"COVID-19 vaccination in pregnancy: A review of maternal and infant benefits","authors":"Emmanuel Lamptey , Ephraim Kumi Senkyire , Moses Tia Banoya , Stanley Yaidoo","doi":"10.1016/j.gocm.2022.07.003","DOIUrl":"10.1016/j.gocm.2022.07.003","url":null,"abstract":"<div><p>Pregnant women with COVID-19 are more likely to be admitted to the intensive care unit and their babies born prematurely. Clinical trials excluded pregnant women from the vaccine and safety data were limited. However, an increasing number of studies have demonstrated the safety and immunogenicity of the COVID-19 vaccines for pregnant women and their babies including evidence of maternal transfer of antibodies. In addition to these benefits, the vaccines are proved to be effective for both the pregnant women and infants. The current evidence supports the safety, immunogenicity of the COVID-19 vaccine and its effectiveness in reducing the theoretical risk of the infection among pregnant women and their infants. This review summarizes the recent data on the beneficial effects of COVID-19 immunization on both the pregnant mother and infant.</p></div>","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 124-128"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000549/pdfft?md5=2e33c2c5373d00393d6defc4e8fbba2d&pid=1-s2.0-S2667164622000549-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46492627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuntao Li, Qiuyan Pei, Zhenjuan Yang, Yani Yan, Xiaowei Xue
{"title":"Prenatal ultrasonographic characteristics and prognosis of isolated redundant foramen ovale flap","authors":"Yuntao Li, Qiuyan Pei, Zhenjuan Yang, Yani Yan, Xiaowei Xue","doi":"10.1016/j.gocm.2022.08.002","DOIUrl":"10.1016/j.gocm.2022.08.002","url":null,"abstract":"<div><h3>Objective</h3><p>To analyze the prenatal ultrasonographic characteristics and prognosis of the isolated redundant foramen ovale flap (RFOF).</p></div><div><h3>Methods</h3><p>From January 2014 to December 2021, we collected data on fetal echocardiography analyses and perinatal outcomes for fetuses with isolated RFOF in Peking University People's Hospital.</p></div><div><h3>Results</h3><p>We found that 0.31% (87/28308) of participants have RFOF. The four-chamber results of the foramen ovale flap (FOF) showed that it was stiff and extended >50% or reached the lateral wall of the left atrium (LA) in diastole. As seen from the foramen ovale(FO) channel and four-chamber views, the hypermobile and redundant flap were observed shrinking and stretching with the fetal cardiac cycle, which is similar to jellyfish. The lateral displacement of flow from LA to the left ventricle (LV) around the FOF on color doppler demonstrated thin linear blood flow from the right to left and a reversal of flow across FO. A uniphasic, but not biphasic, pattern of FOF displacement was observed on M-mode. Stages I (23/87) and II (51/87) had a higher ratio of ventricular disproportion than Stage 0 (11/87) and III (2/87). We observed the RA/LA (right/left atrium) > 1.2 in 53 cases (60.9%), RV/LV (right/left ventricle) > 1.2 in 53 cases (60.9%), PA/AO (pulmonary/aortic artery) > 1.2 in 53 cases (60.9%), and moderate or severe tricuspid regurgitation in 10 cases and moderate pericardial effusion in 2 cases (2.2%). Seventy-four RFOF cases had follow-up data. Neonatal death occurred in 2 cases; 72 fetuses survived with normal or minor heart defects.</p></div><div><h3>Conclusion</h3><p>RFOF should be considered if the left side of the heart of a fetus is smaller and related to hypermobile FOF. For isolated RFOF cases, a monthly follow-up is recommended to monitor arrhythmia or fetal hydrop status. Prompt treatment is recommended for those with adequate gestational age and lung maturity.</p></div>","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 141-146"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000690/pdfft?md5=8162f49c9695b4b49b9e29792334a6db&pid=1-s2.0-S2667164622000690-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46125936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinical diagnosis and treatment of “atypical” HELLP syndrome","authors":"Ying-dong He, Hui-xia Yang","doi":"10.1016/j.gocm.2022.08.001","DOIUrl":"10.1016/j.gocm.2022.08.001","url":null,"abstract":"<div><p>HELLP syndrome is regarded as one of the most serious manifestations of preeclampsia, but approximately 15% of patients with HELLP syndrome have no clinical manifestations of preeclampsia; furthermore, although most cases of HELLP syndrome occur after 34 weeks, some cases occur at a much earlier gestational stage, even before 20 weeks of gestation, the underlying pathogenesis of “atypical” HELLP syndrome with very early onset or the basis of non-preeclampsia manifestations should be more actively explored. Obstetricians should carefully identify the potential etiology of “atypical” HELLP syndrome in order to provide a reasonable treatment and improve maternal and fetal prognosis.</p></div>","PeriodicalId":34826,"journal":{"name":"Gynecology and Obstetrics Clinical Medicine","volume":"2 3","pages":"Pages 105-108"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2667164622000677/pdfft?md5=b8045e6fddf4bdd0f1014573e099aeab&pid=1-s2.0-S2667164622000677-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42803249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}