Sirenomelia: a review on embryogenic enviromental theories,novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus

Purpose

Sirenomelia is caused by atrophy of the lower extremities that is commonly associated with gastrointestinal and urogenital malformations.

Methods

Embryogenic environmental theories and systematic review of the literature are reported.

Results

Genetic basis of the condition has been demonstrated in the animal model. In humans, association with de novo balanced translocation has only recently been documented.

Conclusions

A case of triploidy mosaic fetus with sirenomelia and posterior fossa anomaly diagnosed at first trimester using novel three-dimensional ultrasound imaging techniques is presented.

     

Antenatal ultrasound and MRI findings of Pena–Shokeir syndrome

Introduction

Pena–Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia.

Case report

We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena–Shokeir syndrome.

Conclusion

Pena–Shokeir syndrome is a potentially lethal condition and most cases are diagnosed prenatally by ultrasound. Fetal MR can be performed to look associated neurological malformation.

     

A long-standing incomprehensible matter of obstetrics: meconium-stained amniotic fluid,a new approach to reason

Objective

We sought to determine whether meconium-stained amniotic fluid is based on chronic hypoxia or not? In case of chronic hypoxia, higher red blood cell (Rbc) count and/or total hemoglobin levels (Hgb) and/or higher fetal hemoglobin (HbF) and/or lower adult hemoglobin (HbA) levels were expected when compared with controls.

Design

Case–control study.

Setting

Obstetric unit of a tertiary ministry of health hospital.

Sample

Fifty singleton pregnancies with meconium-stained amniotic fluid and 50 singleton pregnancies with clear amniotic fluid at all stages of labor.

Methods

Umbilical cord blood samples were collected for determination of total blood parameters and hemoglobin electrophoresis.

Main outcome measures

Red blood cell count, total hemoglobin, fetal and adult hemoglobin contents (HbF and HbA).

Results

Red blood cell count, total hemoglobin, fetal hemoglobin (HbF) and adult hemoglobin (HbA) contents were not different between meconium stained and clear amniotic fluid groups.

Conclusion

These results suggest that meconium passage may not be associated with chronic fetal hypoxia as demonstrated by similar red blood cell count, total hemoglobin values and fetal hemoglobin (HbF) and adult hemoglobin (HbA) contents.

     

Fertility outcome after treatment of retained products of conception: a systematic review

Background

Treatment of retained products of conception (RPOC) can be expectant, medical or operative. Surgical removal of RPOC may lead to intrauterine adhesions (IUA) and Asherman’s syndrome.

Objective

To evaluate how treatment options for RPOC affect future fertility by means of a systematic review.

Search strategy

MEDLINE, EMBASE, The Cochrane Library, and clinical trial registers were searched, and reference lists were scanned.

Selection criteria

Randomised controlled trials (RCT) comparing different treatment options for RPOC (conservative, medical or surgical treatment, including curettage and/or hysteroscopic techniques, with or without application of anti-adhesion therapy), in women of reproductive age, were eligible for inclusion.

Data collection and analysis

Reviewers independently performed data extraction and quality of evidence assessment. For dichotomous variables, results were presented as risk ratio (RR) with 95% CI.

Main results

Two studies were included. Nonsignificant differences were observed between the use of an anti-adhesion barrier gel versus no treatment after operative hysteroscopy in IUAs (RR 0.32, 95% CI 0.04 to 2.80, P value?=?0.30) and clinical pregnancy (RR 2.22, 95% CI 0.67 to 7.42, P value?=?0.19), and between hysteroscopic morcellation versus loop resection in IUAs (RR 0.86, 95% CI 0.06 to 13.12, P value?=?0.91).

Conclusion

There is insufficient evidence on how different treatment options for RPOC affect future reproductive outcomes. Results from ongoing RCTs are needed to guide clinicians towards choosing the best treatment.

     

Handling aberrant vessels located in the posterior bladder wall in surgery for abnormally invasive placenta: a non/less-touch technique

Background

At cesarean hysterectomy for abnormally invasive placenta, rupture of aberrant vessels around the uterus causes massive bleeding.

Purpose

This study aimed at describing a technique to reduce bleeding from aberrant vessels at the posterior bladder wall in this surgery.

Methods

The bladder is filled with 200–300 mL of water during handling the posterior bladder wall.

Results

This technique facilitates understanding that some aberrant vessels do not have communications with the cervix-uterus. Some aberrant vessels have communication with the cervix-uterus and this technique makes cutting and ligation of these vessels easy.

Conclusions

Filling the bladder may reduce bleeding from the posterior bladder wall at cesarean hysterectomy for abnormally invasive placenta.

     

Ovarian hyperstimulation syndrome following GnRH agonist trigger—think ectopic

Purpose

This study aims to report a case of ovarian hyperstimulation syndrome (OHSS) following GnRH agonist trigger for final follicular maturation.

Methods

This study is a retrospective chart review.

Results

We report the first case of OHSS following GnRH agonist trigger for final follicular maturation and freeze-all, masking extrauterine pregnancy (EUP). The present case report elucidates the feasibility of stimulating and recruiting ovarian follicles yielding mature oocytes during early pregnancy and the ability of GnRH agonist to trigger final follicular maturation during pregnancy, in the presence of high progesterone and hCG levels.

Conclusions

Since OHSS almost always develops after hCG administration or in early pregnancy, its occurrence following GnRH agonist trigger should alert physician to search for either an inadvertent administration of exogenous hCG, or the endogenous secretion of hCG by pregnancy, e.g. EUP, or as part of a paraneoplastic syndrome.

     

Investigating the clinical potential for 14-3-3 zeta protein to serve as a biomarker for epithelial ovarian cancer

Objective

Recently, 14-3-3 zeta protein was identified as a potential serum biomarker of epithelial ovarian cancer (EOC). The goal of this study was to investigate the clinical potential of 14-3-3 zeta protein for monitoring EOC progression compared with CA-125 and HE4.

Design

Prospective follow-up study.

Setting

University of Pecs Medical Center Department of Obstetrics and Gynecology/Oncology (Pecs, Hungary).

Population

Thirteen EOC patients with advanced stage (FIGO IIb-IIIc) epithelial ovarian cancer that underwent radical surgery and received six consecutive cycles of first line chemotherapy (paclitaxel, carboplatin) in 21-day intervals.

Methods

Pre- and post-chemotherapy computed tomography (CT) scans were performed. Serum levels of CA-125, HE4, and 14-3-3 zeta protein were detected by enzyme-linked immunosorbent assay (ELISA) and quantitative electrochemiluminescence assay (ECLIA).

Main outcome measures

Serum levels of CA-125, HE4, and 14-3-3 zeta protein, as well as lesion size according to pre- and post-chemotherapy CT scans.

Results

Serum levels of CA-125 and HE4 were found to significantly decrease following chemotherapy, and this was consistent with the decrease in lesion size detected post-chemotherapy. In contrast, 14-3-3 zeta protein levels did not significantly differ in healthy postmenopausal patients versus EOC patients.

Conclusions

Determination of CA-125 and HE4 serum levels for the determination of the risk of ovarian malignancy algorithm (ROMA) represents a useful tool for the prediction of chemotherapy efficacy for EOC patients. However, levels of 14-3-3 zeta protein were not found to vary significantly as a consequence of treatment. Therefore we question if 14-3-3 zeta protein is a reliable biomarker, which correlates with the clinical behavior of EOC.

     

Advanced abdominal pregnancy: a search for consensus. Review of literature along with case report

Introduction

Intentional placental removal for abnormally invasive placenta (AIP) is fundamentally abandoned at planned surgery for it. Whether this holds true even after recent introduction of various hemostatic procedures is unclear.

Materials and Methods

We discussed on this issue based on our own experiences and also on the recent reports on various hemostatic procedures.

Results

Studies directly answering this question have been lacking. We must weigh the balance between the massive bleeding and possibility of uterus-preservation when intentional placental removal strategy is employed.

Conclusion

An almost forgotten strategy, the “intentional placental removal” for planned AIP surgery may regain its position when appropriate hemostatic procedures are concomitantly used depending on the situation. Even employing this strategy, quick decision to perform hysterectomy under multidisciplinary team may be important.

     

A Comparative Study on Quantitative Assessment of Blood Flow and Vascularization in Polycystic Ovary Syndrome Patients and Normal Women Using Three-Dimensional Power Doppler Ultrasonography

Purpose of the Study

To compare the quantitative assessment of blood flow and vascularization of ovaries in polycystic ovary syndrome patients and normal women using three-dimensional power Doppler ultrasonography.

Methods

This cross-sectional quantitative study was conducted on women of reproductive age group (15–45 years) attending Gynaecology OPD AIMSR, Bathinda, Punjab. Thirty women were enrolled in polycystic ovarian syndrome (PCOS) group and 30 healthy women in control group. Women were categorized as polycystic ovary syndrome according to Rotterdam’s criteria. The women with PCOS underwent transvaginal USG Doppler on day 6 of the cycle using 3D power Doppler USG equipment (GE Voluson E8), and vascularization index (VI), flow index (FI) and vascularization flow index (VFI) were measured.

Results

The mean values of VI, FI and VFI measured by power Doppler ultrasonography were significantly increased (P value = 0.000) in women with PCOS when compared with healthy women.

Conclusion

This study suggests that blood flow and vascularization measured by 3D power Doppler ultrasonography in ovaries of polycystic ovary syndrome patients were significantly more than the ovaries of normal women.

     

Pulsatile Gonadotropin-Releasing-Hormon-Behandlung

Background

Pulsatile gonadotropin-releasing hormone (GnRH) therapy is an option for ovulation induction in patients with central hypothalamic functional disorders, which is often only initiated as second-line treatment due to the alleged effort involved in treatment.

Objective

The indications, course and results of a standardized pulsatile GnRH treatment are presented in order to demonstrate the value of this form of treatment.

Results

In addition to the classical indications for hypothalamic amenorrhea, pulsatile GnRH treatment can also be used for drug-resistent hyperprolactinemia and some mixed forms of polycystic ovarian syndrome (PCOS). Current data demonstrate that pulsatile GnRH stimulation is one of the most effective forms of treatment in reproductive medicine, particularly in patients with hypothalamic amenorrhea and infertility.

Discussion

In cases with clear indications, pulsatile GnRH should be the first choice treatment for ovarian stimulation.

     

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel <Emphasis Type="Italic">DNAH5</Emphasis> mutations

Purpose

Kartagener syndrome (KS), also known as visceral inversion-nasosinusitis-bronchiectasis syndrome, or familial bronchiectasis, is an autosomal recessive inherited disease. In this study, through two cases of KS, we aimed to assess the clinical and genetic characteristics of KS caused by DNAH5 mutations.

Methods

The two cases of KS from the same family underwent extensive clinical assessments, with next-generation DNA sequencing and bioinformatics analysis to identify pathogenic genes. In addition, Sanger sequencing was used to verify the pedigrees.

Results

The present study employed a directional capture strategy for hereditary disease screening, which correctly identified the virulence sites in the pedigree, and facilitated the differential diagnosis among multiple genes. Two novel mutations were detected in DNAH5: c.7778C>T (missense mutation) and c.13729G>A (nonsense mutation). They were not found in dbSNP, 1000 Genomes, and ExAC.

Conclusions

These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of KS, providing families with genetic counseling and prenatal diagnosis.

     

Recommendations for the surgical treatment of endometriosis—part 1: ovarian endometrioma

Study question

What does this document on the surgical treatment of endometriosis jointly prepared by the European Society for Gynaecological Endoscopy (ESGE), ESHRE, and the World Endometriosis Society (WES) provide?

Summary answer

This document provides recommendations covering technical aspects of different methods of surgery for endometriomas in women of reproductive age.

What is already known

Endometriomas (ovarian endometriotic cysts) are a commonly diagnosed form of endometriosis, owing to the relative ease and accuracy of ultrasound diagnosis. They frequently present a clinical dilemma as to whether and how to treat them when found during imaging or incidentally during surgery. Previously published guidelines have provided recommendations based on the best available evidence, but without technical details on the management of endometriosis.

Study design, size and duration

A working group of ESGE, ESHRE and WES collaborated on writing recommendations on the practical aspects of endometrioma surgery.

Participants/materials, setting and methods

This document focused on endometrioma surgery. Further documents in this series will provide recommendations for surgery of deep and peritoneal endometriosis.

Main results and the role of chance

The document presents general recommendations for surgery of endometrioma and specific recommendations for cystectomy, ablation by laser or by plasma energy, electrocoagulation and a combination of these techniques applied together or with an interval between them.

Limitations and reasons for caution

Owing to the limited evidence available, recommendations are mostly based on clinical expertise.

Wider implications of the findings

These recommendations complement previous guidelines on the management of endometriosis.

Study funding/competing interests

The meetings of the working group were funded by ESGE, ESHRE and WES. CB declares to be a member of the independent data monitoring committee for a clinical study by ObsEva and receiving research grants from Bayer, Roche Diagnostics, MDNA Life Sciences and Volition. ES received honoraria for provision of training to healthcare professionals from Ethicon, Olympus and Gedeon Richter. The other authors declare that they have no conflict of interest.

     

Artificial Intelligence: The Future of Obstetrics and Gynecology

Background

Artificial intelligence or ‘big data’ comprises of algorithms which aid in decision making. It has made an impact on a number of professions including obstetrics and gynecology.

Objective

To make readers aware of where artificial intelligence has a role in obstetrics and gynecology.

Material and methods

A comprehensive review of the literature was undertaken to compile a list of instances where artificial intelligence was applied to obstetrics and gynecology.

Conclusion

Artificial intelligence should be utilized to benefit patient care and assist the physician in providing data for decision making.

     

Management of cesarean scar pregnancy with suction curettage: a report of four cases and review of the literature

Purpose

To present the outcomes of four cases of cesarean scar pregnancy treated with suction curettage.

Methods

Four patients were ultrasonographically diagnosed with cesarean scar pregnancies treated with suction curettage in a tertiary care center.

Results

Serum β-human chorionic gonadotropin levels ranged between 1,681 and 15,573 mU/mL, gestational sac diameter measured from 10 to 24 mm and scar thickness was between 4.7 and 6.8 mm. All patients underwent suction curettage under general anesthesia with transabdominal ultrasonography guidance. No complications were observed during or after operation.

Conclusion

Suction curettage is a viable alternative for conservative treatment in selected cases of patients who are diagnosed with CSP early in gestation and who have a myometrial thickness of more than 4.5 mm.

     

4G/5G polymorphism of plasminogen activator inhibitor-1 gene is associated with polycystic ovary syndrome in Chinese patients: a meta-analysis

Purpose

To date, case–control studies on the association between a single-nucleotide polymorphism (SNP) in the plasminogen activator inhibitor-1 (PAI-1) gene and polycystic ovary syndrome (PCOS) have provided controversial results.

Methods

The electronic databases PubMed, Embase, Web of Science, and CNKI (China National Knowledge Infrastructure) were searched for studies to include in the present meta-analysis.

Results

The fixed effects and random effects models showed that the 4G allele was associated with a risk of PCOS compared with the 5G allele in Chinese patients (OR = 2.05; 95 % CI = 1.56–2.69), but not in Caucasian patients (OR = 1.05; 95 % CI = 0.81–1.37). The contrast of homozygotes and the recessive and dominant models produced the same pattern of results as the allele contrast.

Conclusion

Our pooled data suggest evidence for a major role of PAI-1 gene 4G/5G polymorphism in the pathogenesis of PCOS among Chinese patients.

     

Screening for Postnatal Depression in a Tertiary Care Hospital

Aim

To determine the need to screen postpartum women for postpartum depression.

Objective

This study was designed to determine the prevalence of an Edinburgh postnatal depression scale (EPDS) score of ≥13 in postpartum mothers and to evaluate the association of different sociodemographic and obstetric factors with postpartum depression.

Design

Prospective cohort study.

Method

1600 postpartum women who delivered a live born at St. John’s Hospital were recruited into the study. Participants were screened for postnatal depression using the EPDS. A risk factor questionnaire that covered key sociodemographic and obstetric factors was also completed by all the subjects. Main Outcome Measure: Prevalence of a score of 13 or higher, on the EPDS.

Results

The prevalence of an EPDS score of ≥13 in our population was 7.5 % (120/1600). Participants with a family history of psychiatric illness, history of domestic abuse, delayed initiation of breastfeeding, and those who gave birth to a female infant were at a significantly higher risk for an EPDS score of 13 or higher, indicating probable postnatal depression. The mode of delivery, NICU admission of the newborn, and history of antenatal complications were not significant risk factors.

Conclusion

Since the prevalence of an EPDS score ≥13 (which is suggestive of PPD) was found in a significant proportion of women, screening for PPD is indicated in all postpartum women to identify and promptly treat these women. Identification of a clear correlation between certain risk factors and PPD will lead to a more prompt diagnosis of PPD.

     

Kinetics of human male pronuclear development in a heterologous ICSI model

Purpose

To evaluate human sperm nuclear chromatin decondensation in a heterologous ICSI system using hamster ova injected with human sperm.

Materials and methods

Frozen hamster oocytes were injected with Triton X-100 treated sperm and fixed at different time points post ICSI. Oocytes injected with non-treated sperm served as controls. Male pronuclear decondensation was evaluated after staining with DAPI.

Results

Sperm cells with partially destroyed membranes and depletion of the acrosome decondense more rapidly and to a greater extent than membrane/acrosome intact cells. Marked variability in pronuclear size was observed for any time point post ICSI, which most probably reflects the heterogeneity in the mature human sperm population.

Conclusion

Remodeling of male gamete nuclei in this heterologous ICSI mimics events that occur during natural fertilization in humans and therefore this approach may be used for studies of human sperm chromosomes transformations.

     

Maternal sepsis in the era of genomic medicine

Purpose

Maternal sepsis remains one of the leading causes of direct and indirect maternal mortality both in high- and low-income environments. In the last two decades, systems biology approaches, based on ‘-omics’ technologies, have started revolutionizing the diagnosis and management of the septic syndrome. The scope of this narrative review is to present an overview of the basic ‘-omics’ technologies, exemplified by cases relevant to maternal sepsis.

Methods

Narrative review of the new ‘-omics’ technologies based on a detailed review of the literature.

Results

After presenting the main ‘omics’ technologies, we discuss their limitations and the need for integrated approaches that encompass research efforts across multiple ‘-omics’ layers in the ‘-omics’ cascade between the genome and the phenome.

Conclusions

Systems biology approaches are revolutionizing the research landscape in maternal sepsis. There is a need for increased awareness, from the side of health practitioners, as a requirement for the effective implementation of the new technologies in the research and clinical practice in maternal sepsis.