Micromelic upper limbs and cardiac defect: a fetal case of Holt-Oram syndrome identified in the first trimester A nuchal translucency (NT) screen is recommended for all pregnant women between 11 and 14 weeks’ gestation. NT measurement plays as part of aneuploidy screening schemes. However, it is increasingly recognized that it is also the earliest opportunity to examine fetal anatomy. Holt-Oram syndrome (HOS) is an autosomal dominant disorder, characterized by upper limb malformations and congenital heart disease . We here report such a case diagnosed by ultrasound at the first trimester.
Non invasive Prenatal Testing (NIPT) for common aneuploidies and beyond Non invasive prenatal Testing (NIPT) is changing the practice of prenatal diagnosis worldwide. It provides high sensitivity and specificity in screening for common aneuploidies. As a result, it has reduced the number of invasive procedures, thereby reducing their associated risk of pregnancy miscarriage. NIPT is based on the detection and analysis of cell free fetal DNA (cffDNA) that is obtained from a maternal peripheral blood sample.Advanced laboratory detection and purification technology has improved the performance of NIPT and allowed the introduction of new applications in recent years.
Impact of COVID-19 on pregnant women with Rheumatic heart disease or Peripartum cardiomyopathy We observed that, little is still known about the impact of the SARS-CoV-2 infection on pregnant women with heart disease (HD). Aim of our study was to investigate the impact of COVID-19 on pregnancy and neonate retrospectively at BYL Nair Charitable Hospital (NH), a dedicated COVID-19 hospital  in women with HD in Mumbai, India. In the initial phase of COVID-19 pandemic of 6 months, NH received five RT-PCR confirmed COVID-19 pregnant women with heart disease [Rheumatic HD (RHD; n = 3), Peripartum Cardiomyopathy (PPCM; n = 2)], out of 879 COVID-19 pregnant and post-partum women (Table 1).
Options for triage and implications for colposcopists within European HPV-based cervical screening programmes Several national programmes have converted from a cytology-based cervical cancer screening programme to one based upon human papillomavirus (HPV) testing. Other European states are considering this change. Four European prospective randomised screening studies have shown a 70% reduction in cervical cancer rates for those with negative tests including adenocarcinoma . Only a minority of all positive high-risk HPV (hrHPV) cases have pre-cancerous lesions requiring treatment. There are various triage tests available to prioritise those women requiring colposcopic assessment as opposed to surveillance in the community based on the risk of underlying cervical intraepithelial neoplasia grade two or worse (CIN2+) or high grade squamous intraepithelial lesions or worse (HSIL+).
Isolated second trimester uterine rupture following a motor vehicle accident Uterine rupture is an uncommon obstetrical complication associated with significant maternal and fetal mortality. The majority of such ruptures occur intrapartum and previous uterine scar is the most common risk factor . Mid trimester uterine rupture following blunt trauma, especially motor vehicle accident (MVA), is very rare .
Varicella Zoster in pregnancy Chickenpox during pregnancy can cause serious complications for both mother and fetus. This includes varicella pneumonia in the mother, fetal varicella syndrome and varicella of newborn. Primary prevention includes vaccination against varicella infection and is part of standard childhood immunisation programme in many countries. Timely post-exposure prophylaxis of susceptible pregnant women with varicella zoster immunoglobulin is key to preventing chickenpox during pregnancy and its adverse fetomaternal sequelae.
Idiopathic Primary Ovarian Insufficiency is Associated with Anogenital Distance, a Marker for Prenatal Environment In a significant number of women diagnosed with primary ovarian insufficiency (POI), the underlying cause cannot be found. On the other hand, the ovarian reserve set prenatally has been shown to be affected by intrauterine nutrition, environmental and hormonal factors. We aimed to evaluate the relationship between anogenital distance (AGD), which is considered as a biomarker for prenatal hormonal environment, and idiopathic POI in adolescents and young women.
A rare urogenital fistula with minimally invasive management Urogenital fistulas are abnormal connections between the female genital tract and the bladder, urethra or ureters. These clinical presentations are not common and are generally secondary to gynaecological surgery in developed countries, but may be encountered more frequently in developing countries due to obstructed labour .
Corpus luteum score, a simple Doppler examination to prognose early pregnancies Summarised predictions from CL score alone and combined to serum progesterone levels (μg/L) with:-First figure, up: description of corpus luteum scores-Table: distribution of evolving (viable) pregnancies, surgical removal of non-viable pregnancies, delay of non-surgical evacuations and complications according to corpus luteum scores 0, 1 and 2.-Second figure: predicted probability on evolutive pregnancies over amount of progesterone combined to CL Doppler score (0 red, 1 green and 2 blue)-Third figure: probability of long delay over amount progesterone and CL score (0 red, 1 green and 2 blue).
Pregnancy outcomes following transabdominal cerclage after recurrent failed vaginal cerclage Recurrent late miscarriage and early spontaneous preterm birth are treated with vaginal cerclage. In a small number of very high risk women where vaginal cerclage fails, transabdominal cerclage (TAC) is effective [1,2]. The Multicentre Abdominal vs Vaginal Randomised Intervention of Cerclage (MAVRIC) trial was a multicentre RCT which provided the first direct comparison of TAC and high vaginal cerclage with low vaginal cerclage in women with a previous failed cerclage in the prevention of early preterm birth and fetal loss .
Tocolysis after preterm premature rupture of membranes: Time for change? We read with great interest the article by van Winden et al., who examined whether tocolysis is associated with neonatal or obstetric outcomes in women with preterm premature rupture of membranes (PPROM) and uterine contractions . The main finding highlights that tocolysis after PPROM is not associated with improved neonatal outcomes or prolonged latency. We have previously investigated the same question by applying a propensity score analysis to the EPIPAGE-2 data , and we are happy to see that these results support our findings, even though the sample size is limited.
Impact of restaging lymphadenectomy after sentinel node biopsy on endometrial cancer Endometrial cancer (EC) is the most common gynaecological cancer in developed countries, with more than 65,000 new cases expected in 2020 in the USA . Most cases are diagnosed at an early stage (80 % in Stage I), with an overall 5-year survival rate >95 %. The overall risk of nodal involvement in EC is low (approximately 10 %), ranging between 1 % for low-risk tumours to 10–30 % for intermediate- and high-risk tumours. This risk is first estimated pre-operatively, but is established definitively postoperatively.
The role of soluble E-selectin in HIV associated preeclampsia The Human Immunodeficiency Virus (HIV) infection is a global health concern, with sub-Saharan Africa being the region most affected by the epidemic . In the general population of South Africa (SA), the prevalence of HIV infection is approximately 13.1 % . The province of KwaZulu-Natal in particular, is notably affected with the prevalence of HIV infection during pregnancy at approximately 41.1 % . In 2018, one-fifth of women in SA, in the reproductive ages between 15–49 years were HIV positive, hence, this presents a sombre quandary for health care professionals .
Investigating the Association of Matrix Metalloproteinase-2 Gene Variants with Endometriosis in an Iranian Population Endometriosis is an estrogen-dependent inflammatory benign condition which can lead to intermittent dysmenorrhoea and infertility. The characteristic of endometriosis is ectopic endometrial implants which induce inflammatory reactions and scar tissues. Endometriosis has wide range of symptoms from asymptomatic to infertility [1,2]. Pathogenesis of endometriosis is not clearly understood but there are some more accepted theories including retrograde menstruation, altered immunity, coelomic metaplasia and metastatic spread .
Hydrouretonephrosis caused by uterine prolapse after gellhorn pessary displacement we report a case of acute renal failure and urosepsis due to bilateral ureteral obstruction in a patient with a displaced pessary. The patient was a 77-year-old woman with ischemic heart disease and stroke induced hemiplegia. Her procidentia was successfully treated for many years with a 3.25″ Gellhorn pessary indicated for impossibility to retain a ring . Previous ultrasound of kidneys did not demonstrate any hydronephrosis. A few days after the last outpatient visit for pessary change she was referred to the emergency room with fever and voiding difficulties.
Uterine torsion in patient with major placenta previa Uterine torsion is rare obstetric emergency, with likelihood of encountering the case is once in a lifetime in every obstetrician and gynecologists. The exact incidence is unknown, however reported incidence is higher in pregnant uterus compared to the non-pregnant. In case of obstetric, it is associated with high maternal and perinatal morbidity and mortality.
Medicine, media and the law: The effect on training in obstetrics and gynaecology The inextricable link between medicine and the legal profession has flourished in the 21st century, with countless newspaper articles and social media content on medical cases visible at every juncture. This is particularly true in the speciality of obstetrics and gynaecology, with one of the highest rates of litigation of all medical specialities. We aimed to evaluate the influence of media and the legal environment on the career of trainees in obstetrics and gynaecology.Under the auspices of the Irish national training body, we distributed a 26-item questionnaire to doctors-in-training (DIT) working in obstetrics and gynaecology in the Republic of Ireland.
What is known about the nutritional intake of women with Hyperemesis Gravidarum?: A scoping review Hyperemesis Gravidarum (HG) is a condition at the extreme end of the pregnancy sickness spectrum. Unlike typical nausea and vomiting in pregnancy (NVP) which affects ∼70 % of pregnant women, HG is a severe complication estimated to affect between 0.8–3.3 % pregnant women [1–4], with a high recurrence rate in subsequent pregnancies  and high rate of hospitalisation . The cause of HG is still poorly understood , however a genetic cause has recently been identified . HG can persist throughout pregnancy, causing malnutrition, dehydration and extreme weight loss .
Should obstetricians working in non-endemic countries care about emerging tropical diseases? Due to migration and international travels, obstetricians are increasingly faced with a globalized obstetric setting and should adapt their daily clinical and diagnostic approach to the modifications of tropical and subtropical infections epidemiology.This paper is focused on five emerging infectious diseases, namely Chagas disease, HTLV-1 infection, malaria, schistosomiasis and Zika virus infection, having a high prevalence in migrant populations and which can affect international travelers. These diseases frequently pass unrecognized since they are characterized by few or no symptoms during pregnancy, however they may cause a relevant maternal, fetal and neonatal impact.
EBCOG Position Statement - Simulation-based Training for Obstetrics and Gynaecology during COVID-19 Pandemic The specialty of Obstetrics and Gynaecology has been on the forefront of introducing simulation in post graduated education for the past two decades. Simulation training is known to enhance psychomotor skills and is considered an important step in the transition from classroom learning to clinical practice. Training on simulators allows trainees to acquire basic skills before getting involved in day to day care in real life situation. Clinical circumstances around COVID 19 pandemic has highlighted the key importance of simulation training in delivering post graduate curriculum.
Intrapartum rupture of the rectovaginal septum with transanal fetal hand delivery and intact anal sphyncter isolated obstetric (intrapartum) rupture of the rectovaginal septum (RRVS) and intact anal sphyncter complex (major „buttonhole “tears) with childbirth or body parts through the rupture is an extremely rare clinical condition. Pathological presentation or malposition, assisted childbirth, primiparous or multiparity, protracted childbirth, injuries, inflammation or surgery on the posterior wall of the vagina are risk factors for complex soft birth canal ruptures [1–4].
Prenatal diagnosis of interruption of the aortic arch or aortic isthmus atresia, a case report Dear Editor, we describe a case of sonographic diagnosis of Interruption of the aortic arch (IAA) at 15 weeks of gestation, followed by a pathological diagnosis of Aortic Isthmus Atresia (AIA). Interruption of the aortic arch (IAA) is a rare, severe congenital heart anomaly defined as the loss of continuity between the ascending and descending aorta in which the distal aortic circulation is supplied by a patent ductus arteriosus. IAA is subtyped by the anatomic location of the interrupted part, relative to the brachiocephalic arteries arising from the aortic arch.
Research Progress of Single Nucleotide Polymorphism in Stress Urinary Incontinence Stress urinary incontinence (SUI), as one of the manifestations of pelvic floor dysfunction diseases with high incidence, seriously affects women's physical and mental health and quality of life. The etiology and pathogenesis of SUI are complex and not yet completely clear, now believed to be involved with environmental factors, genetic factors and cross-cutting factors between the two. SUI genetic susceptibility may be related to single nucleotide polymorphism. This article reviews the current studies on SUI-related single nucleotide polymorphisms.
Perinatal and maternal outcomes after frozen versus fresh embryo transfer cycles in women of advanced maternal age The delay of childbearing in women has become a worldwide issue in recent decades. The application of assisted reproductive technology in women of advanced maternal age (AMA) is increasing. Evidence on the safety and outcomes of frozen embryo transfer (FET) compared with fresh embryo transfer (ET) in AMA women is still lacking. Therefore, the objective of the present study was to compare perinatal and maternal outcomes after autologous FET and fresh ET cycles in women of AMA.
WITHDRAWN: Diagnostic evaluation of uterine myomas This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause.The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
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