The role of ultrasonographic adipose tissue thickness measurement in the first trimester in predicting gestational diabetes: a prospective study.

BACKGROUND: This prospective observational study aimed to assess the association between maternal abdominal subcutaneous and visceral fat thickness measured with ultrasound scan during the first trimester and the risk of developing gestational diabetes mellitus (GDM). METHODS: We recruited 43 non-diabetic women with singleton pregnancy between 11 and 14 week of gestation and evaluated ultrasonographic measurements of subcutaneous fat thickness (SFT) and preperitoneal fat (PF) above the umbilicus. During the 2nd trimester, GDM screening was performed by 75 g two-hour oral glucose tolerance test (OGTT) and diagnosis was made when one or more plasma glucose values meets or exceeds the values indicated by International Association of the Diabetes and Pregnancy Study Groups (IADPSG). RESULTS: Among the 43 woman, 8 developed GDM (18.6%). Of these 37,5% (N.=3) had been diagnosed with GDM during a previous pregnancy, with a statistically significant correlation (P=0.035). Mean SFT for all patients was significantly higher in the GDM group compared to non-GDM group (27.30±8.78 mm vs. 18.56±9.99 mm; P=0.049). Mean PF for all women showed a statistically significant correlation with GDM (13.27±9.07 mm for non GDM group vs. 23.52±10.24 mm for GDM group; P=0.038). CONCLUSIONS: Abdominal adiposity, both subcutaneous and visceral, seem to be a suitable predictor of GDM in early pregnancy and it can be easily assessed during a first trimester routine ultrasound, although further studies are needed to evaluate their role in the screening protocols.

Sonographic and clinical features of adenomyosis in women in "early" (18-35) and "advanced" (>35) reproductive ages.

BACKGROUND: Adenomyosis has been considered for a long time a condition of advanced reproductive age. Recently, imaging techniques have allowed its diagnosis in young women. The aim of our study was to compare adenomyosis in early (18-35) and advanced (>35) reproductive age (ERA vs. ARA). METHODS: Between May 2019 and October 2020, 928 consecutive women underwent transvaginal ultrasounds (TV-US) in our Department. We enrolled 134 women of reproductive age (18-55) presenting at least 2 US features of adenomyosis, according to the MUSA consensus. We compared the two reproductive age groups (ERA and ARA) about both clinical and US features of adenomyosis. RESULTS: Severe dysmenorrhea was more frequent in the ERA group (78.7% vs. 54.8%), while menorrhagia was more frequent in the ARA group (64.4% vs. 37.7%). At US, the ARA group had a higher frequency of altered junctional zone (67.1% vs. 39.3%), diffuse (76.7% vs. 39.3%) and severe adenomyosis (24.7% vs. 9.8%), and adenomyoma (16.4% vs. 1.6%). CONCLUSIONS: Adenomyosis may occur in young women, who present different clinical and sonographic features compared to older women. Young patients have a higher prevalence of severe dysmenorrhea and focal and mild adenomyosis at US, while older women present more frequently menorrhagia, and altered junctional zone, diffuse and severe adenomyosis at US. Early diagnosis in young women suffering from adenomyosis may help to interrupt the mechanisms that drive the development of adenomyosis, starting immediately the right treatment.

Advanced midwifery practice: intrapartum ultrasonography to assess fetal head station and comparison with vaginal digital examination.

BACKGROUND: Vaginal digital examination is considered the gold standard to evaluate patients during labor and delivery. However, transperineal ultrasound has been suggested as an effective tool in determining fetal head station during labor. Angle of progression (AOP), head-perineal distance (HPD) and head-symphysis distance (HSD) are reliable parameters to assess fetal head station during labor. The study aims were to evaluate how midwives can use AOP, HSD, HPD to assess the accuracy of digital vaginal exploration limited to the fetal head station. METHODS: Trained midwives for ultrasound analyses performed transperineal ultrasounds during the first stage of labor with 2D-convex probe in 62 pregnant women at term with a single fetus in cephalic presentation. Immediately before the intrapartum ultrasound, the birth attendant performed a digital examination to assess cervical dilatation and head station. The ultrasound scans were compared to the digital vaginal examination through the Tutschek's formula. RESULTS: AOP was wider in women who delivered vaginally without any complication if compared to "complicated delivery" group. HPD and HSD were greater in women who underwent an operative vaginal delivery or caesarean section. The vaginal exploration accuracy was 34%, but when ±1 cm was considered as tolerated, the overall accuracy was 74.19%. CONCLUSIONS: Midwives may include ultrasounds in their clinical practice after adequate training or under the supervision of an ultrasound professional as an adjunct tool during labor to evaluate its progress and prevent any deviation from physiology.

A deep insight into pelvic pain and endometriosis: a review of the literature from pathophysiology to clinical expressions.

INTRODUCTION: Endometriosis is a chronic inflammatory disease that affects approximately 10% of women of reproductive age. Its clinical manifestations are highly heterogeneous, but pelvic pain is the most frequent, causing functional disability. Cyclic or acyclic chronic pelvic pain (CPP), dysmenorrhea and dyspareunia are frequent symptoms which often compromise all aspects of the women's quality of life (QoL). The pathophysiology of endometriosis-related pain is extremely complex and not always clear. The aim of this systematic review was to focus on recent updates on the clinical presentation, the pathophysiology and the most important mechanisms involved in the pathogenesis of pelvic pain in endometriosis. EVIDENCE ACQUISITION: A literature search in the Cochrane library, PubMed, Scopus and web of Science databases has been performed, identifying articles from January 1995 to November 2020. EVIDENCE SYNTHESIS: Several processes seem to be involved in the pathogenesis of pain, but many aspects are still unclear. Scientific evidence has shown that a correlation between pain severity and stage of endometriosis rarely occurs, whereas there is a significant correlation between pain and the presence of deep endometriosis. Onset and intensity of pain may be due to a complex process involving central sensitization and peripheral activation of nociceptive pathways as well as dysfunction of the immune system and of the hypothalamic-pituitary-adrenal (HPA) axis. CONCLUSIONS: A deeper understanding of these different pathogenetic mechanisms may improve future treatments in women with painful endometriosis.

BRCA1/2 genes mutations, ovarian reserve and female reproductive outcomes: a systematic review of the literature.

INTRODUCTION: BRCA1 and BRCA2 genes mutations seems to impact female fertility, in addition to increasing the risk of ovarian and breast cancer. Several studies had investigated this issue but data available are still controversial. In order to clarify the role of BRCA1 and BRCA2 mutations in female fertility and ovarian function we carried out a systematic review of the literature with the aim to establish a possible management's strategy of these patients. EVIDENCE ACQUISITION: A review of current literature regarding BRCA mutation (BRCAm) and fertility was conducted using the PubMed tool to select remarkable articles with the keywords "BRCA1/2 gene," "BRCA1/2 mutation," "anti-Müllerian hormone," "female fertility," "ovarian reserve" and "premature ovarian failure." EVIDENCE SYNTHESIS: In current literature there are controversial findings about the relation between BRCA genes mutations and lifespan of female reproductive age. Several studies showed an higher risk of premature ovarian insufficiency of BRCAs mutations carriers, according to lower serum AMH level, primordial follicle count, or fewer oocyte yield after ovarian stimulation; on the other hand more recent studies reported not significant differences in serum AMH level or in reproductive outcomes between mutated and non-mutated BRCA patients. For this reason, currently there is not a strict recommendation for routine evaluation of fertility in female carriers of BRCA mutations. Nevertheless, the strong advice to complete childbearing by age 40 and then to undergo a risk-reducing salpingo-oophorectomy and the increased risk of infertility as a result of anticancer treatment in breast cancer BRCAm patients, make the issue of fertility and pregnancy planning in these women worthy of consideration. CONCLUSIONS: A dedicated counseling to discuss these issues, eventually associated with a personalized assessment of serum AMH or antral follicle count in order to have a panoramic view of ovarian reserve, may be useful in the management of these patients.

Could art cycles have a detrimental effect on ovarian reserve? A retrospective case control study.

BACKGROUND: Even if it is supposed damage of repeated ART (assisted reproductive technology) cycles on oocyte pool, there is still no evidence in literature. Aim of the study is to investigate whether infertile women who undergo to several ART cycles can show a lower ovarian reserve measured by AMH (Anti-Mullerian hormone) levels. METHODS: The study includes 282 infertile women, between 18 and 42 years, and allocated into two groups: 159 women previously submitted to two or more ART cycles (group A) and 123 women never submitted naïve to-ART cycles (group B). We tested whether AMH, FSH, LH and E2 levels were significantly different between the two groups, stratifying according to age. RESULTS: Regardless to the age ranges bands, the AMH in group A was statistically significant lower than in group B with a statistical significance (P=0.047). In particular women aged over 35 previously submitted to one or more ART cycles showed lower AMH levels, than those paired with age, which had never been treated with ART. CONCLUSIONS: Despite the limitations of the study, our data demonstrate a reduced AMH levels in women aged over 35 previously submitted to two or more repeated ART-cycles compared to patients never treated before. The strength of this study is the actuality of the topic that has not been discussed before in detail.

Behcet's disease and pregnancy: a systematic review.

INTRODUCTION: Behcet's disease (BD) is a rare inflammatory, multisystemic, autoimmune disorder with unknown origin. BD is included in vasculitic disorders with a more frequent onset characterized by oral and genital ulcers associated with eye inflammation. However, BD has several clinical manifestations, and the most fearful complication is thrombotic involvement. BD occurs mainly in women of childbearing age, therefore it is important to identify the potential risks of pregnancy on the mother and fetus. EVIDENCE ACQUISITION: The aim of our review is to identify, through the study of existing literature, the possible consequences of pregnancy on the course of this disease, the potential risks for the mother and fetus in gestation period and in puerperium, in order to identify a correct pregnancy management in patient affected by BD. EVIDENCE SYNTHESIS: Currently, there are few studies that have analyzed the consequences of the disease on the course of pregnancy and pregnancy on the activity of the pathology. Some authors believe that pregnancy may worsen the symptoms of the disease, while others may even improve the course. Many authors believe that thromboembolic events are the main problems for which focus attention on these patients, both in pregnancy and in puerperium. Different opinions exist about pregnancy complications and neonatal outcomes, although events such as abortion, intrauterine growth restriction and C-section appear to have a higher incidence in BD patients. CONCLUSIONS: There are no contraindications for the onset of pregnancy in BD patients. In most cases pregnancy can improve the course of the disease. However, in view of the potential adverse events, a thorough follow-up of the pregnancy is necessary in order to minimize any risks to the mother and fetus.

Myasthaenia gravis in pregnancy, delivery and newborn.

INTRODUCTION: Myasthaenia gravis (MG) is the most common disease of the neuromuscular junction; clinical presentation of the disease includes a variety of symptoms, the most frequent beign the only ocular muscles involvement, to the generalized myasthenic crisis with diaphragmatic impairment and respiratory insufficiency. It is most common in women between 20 ad 40 years. EVIDENCE ACQUISITION: We performed a comprehensive search of relevant studies from January1990 to Dicember 2019 to ensure all possible studies were captured. A systematic search of Pubmed databases was conducted. EVIDENCE SYNTHESIS: Pregnancy has an unpredictable and variable effect on the clinical course of MG; however, a stable disease before is likely not to relapse during pregnancy. exacerbations can still occur more often during the first trimester and the post partum period. The transplacental passage of antibodies results in a neonatal transient disease, whereas the major concern is related to foetal malformations such as fetal arthrogryposis and polyhydramnios. The overall neonatal outcome described in literature is variable, perinatal mortality in women with MG is generally the same as non affected patients, although in one study the risk of premature rupture of the membranes was higher. Treatment of MG in pregnangncy includes pyridostigmine and corticosteroids, although the latter have been associated with higher risk of cleft palate, premature rupture of the membranes and preterm delivery. These drugs appear also to be safe in breastfeeding. In MG patients spontaneous vaginal delivery should be encouraged, for surgery could cause acute worsening of myasthenic symptoms; also an accurate anesthesiological evaluation must be performed prior to both general and local anesthesia due to increased risk of complications. CONCLUSIONS: Most of the myasthenic women could have uneventful pregnancy with good obstetrical outcomes, both for mother and neonate. However, a careful planning of pregnancy and multidisciplinary team approach, composed by neurologists, obstetricians, neonatologists and anesthesiologists, is required to manage these pregnancies.

The impact of primary Sjogren's syndrome on female sexual function.

INTRODUCTION: Sjogren syndrome (SS) is a chronic autoimmune disease that usually affects women more than man with a 9:1 ratio. It leads to a progressive functional impairment of exocrine glands. Tipically, its clinical presentation is characterized by xerostomia and xerophtalmia, but it can also affect, among others, female genital apparatus, causing vaginal dryness and dyspareunia. EVIDENCE ACQUISITION: PubMed and Google Scholar were searched for articles in English indexed from January 1995 to November 2019 to assess evidence on the impact of primary Sjogren's syndrome on female sexual function. Our attention was directed specifically on the quality of sexual life of patients affected by primary SS. EVIDENCE SYNTHESIS: SS is associated with sexual dysfunction and it can significantly worsen patient's quality of life. CONCLUSIONS: The genital disorders secondary to SS can strongly alter the quality of female life both physically and psychologically as they alter sexuality. However, the observation of certain behavioral norms and the use of appropriate local substances can alleviate the symptoms and effectively contribute to reducing the discomfort.

Does hysterosalpingo-foam sonography have any therapeutic effect? A systematic review.

INTRODUCTION: Tubal patency is one of the mandatory and necessary conditions to be granted in order to guarantee a good pregnancy rate. Numerous studies have been conducted to compare the various testing techniques for tubal evaluation in order to optimize the diagnostic-therapeutic process. Aim of this review is to clarify if hysterosalpingo-foam sonography could be considered as a useful tool not only in the diagnostic procedure, but also in treatment of infertility. EVIDENCE ACQUISITION: We performed a comprehensive search of relevant studies from January 2010 to December 2019 to ensure all possible studies were captured. A systematic search of PubMed databases was conducted. EVIDENCE SYNTHESIS: Over the years, increasingly less invasive approaches have been used to test tubal patency. For many years Laparoscopic with chromopertubation (DLS) has been considered the reference standard, then less invasive procedures have been introduced, such as hysterosalpingography (HSG). Sonohysterosalpingography (HyCoSy) represents a non-invasive procedure with accuracy comparable to HSG. Several studies have been made on different contrast agents that could be used on this procedure and recent studies considered hysterosalpingo-foam sonography (HyFoSy) procedure as a new technique used for the study of tubal function performed on unfertile women. Nowadays, HyFoSy is largely used in the study of tubal patency, but it is not completely clear the role of this technique as treatment of imperviousness of Fallopian tubes, leading to an increase in pregnancy rate after its use. CONCLUSIONS: As described in the literature for other procedures, similarly with HyFoSy, the tubal flushing improves the chance of an embryo implanting and establishing a spontaneous pregnancy. More prospective studies should be taken to better analyze the singular maternal risk fators, hoping to offer more complete indications to recommend HyFoSy.

Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?

Cleft lip and cleft palate (CP) are the most common facial malformations. Two-dimensional (2D) ultrasound (US) is the first-line examination in the prenatal diagnosis of CP. Three-dimensional, four-dimensional US and MRI provide a better detection of facial clefts. We present two fetuses with micrognathia and suspected secondary CP on 2D US: fetal tongue appeared in an unusual position (low tip and high dorsum position) and showed uncoordinated movements. MRI did not confirm the US suspicion, but at birth the two fetuses were affected by Pierre Robin sequence.

Update in non-invasive prenatal testing.

Non-invasive prenatal testing (NIPT) has revolutionized the approach to prenatal diagnosis and, to date, it is the most superior screening method for the common autosomal aneuploidies, mostly trisomy 21. This screening is having a significant population-wide impact on the uptake of conventional screening and diagnostic testing. In recent years, emerging genomic technologies, largely based around next generation sequencing, have expanded the analyses to the sub-chromosomal aneuploidies. However, further clinical validation studies are needed to better characterize this technology. These tests bring advantage through providing a higher diagnostic yield, without risks of miscarriage than previously available diagnostic test, but also raise the question of harms related to an increase in uncertain and unknown results. In view of the revolution brought about by the NIPT, numerous scientific societies have published recommendations regarding the appropriate application of cell-free DNA screening in pregnancy. In this review, we discuss the progress that has been made to date in NIPT.

Ultrasonography reappraisal of tubal patency in assisted reproduction technology patients: comparison between 2D and 3D-sonohysterosalpingography. A pilot study.

BACKGROUND: The aim of this study was to compare 2D and 3D-sonohysterosalpingography (2D-3D-HyFoSy) with previous diagnostic laparoscopy in the diagnosis of tubal patency, and compare each procedure in terms of procedure's time, perceived pain and complication rate. METHODS: We prospectively recruited infertile women, previously submitted to laparoscopy and randomly allocated into 2D-HyFoSy (group I) and 3D-HyFoSy (group II). We analyzed the results in term of sensitivity, specificity, positive predictive value and negative predictive value in tubal patency evaluation of both procedures in comparison with laparoscopy. RESULTS: We enrolled 50 women, 25 in group I and 25 in group II. 2D-HyFoSy findings obtained in group I, were concordant with laparoscopy in 81% of cases, with a sensitivity of 80% and a specificity of 92%. In group II, a correspondence was present in 88% of examinations, with a sensitivity and specificity of 98% and 91.4% respectively. 3D-HyFoSy was found to be faster and less painful than 2D (P<0.001). CONCLUSIONS: In the diagnosis of tubal occlusion, in the high-risk population, it seems advisable to us using the 3D-HyFoSy as the first-level examination, while, in low-risk patients, if the tubes appear obstructed in 2D-HyFoSy, the 3D-HyFoSy should be indicated before submitting patients to operative laparoscopy.