Sonography of fetal holoprosencephaly: a guide to recognize the lesser varieties.

BACKGROUND: Alobar holoprosencephaly (HPE) is easily detected during a first-trimester screening examination, conversely, recognizing the lesser varieties may be difficult even in the second trimester. OBJECTIVES: To describe the imaging findings of a cohort of fetuses with holoprosencephaly (HPE) and to elucidate the appearances of the different anatomical varieties. MATERIALS AND METHODS: We reviewed medical records and stored images of pregnant women referred to our clinic because of a diagnosis or the suspicion of various forms of HPE. We reported the imaging characteristics, the presence of other associated anomalies, magnetic resonance findings, karyotype and autoptic examinations when available. RESULTS: Alobar forms show great distortion of normal brain anatomy, with a single ventricle detectable during the first trimester of pregnancy. Extracerebral, face and karyotype abnormalities are often associated. In semilobar and lobar forms the septum pellucidum is typically absent in axial planes, with fused frontal horns, while posterior fossa is often normal. At multiplanar neurosonogram, anomalies involving corpus callosum and cortex development can be detected. Face abnormalities are mild in lobar forms: receding forehead, various degrees of hypotelorism and the presence of a single central maxillary incisor are reported. CONCLUSIONS: The alobar forms are detectable since the first trimester, with a peculiar single ventricle and extremely frequent extracerebral and karyotype abnormalities. The semilobar and lobar forms are more challenging and the diagnosis is easily missed in a mid-trimester screening exam unless a careful evaluation of both cavum septi pellucidi and frontal horns as well is conducted.

Sylvian fossa sonographic measurements in 18 to 23 weeks fetuses with and without cerebral malformations.

BACKGROUND: Abnormal sulcation of the brain is frequently associated with severe malformations, but the prenatal diagnosis is challenging, especially in early pregnancy. OBJECTIVE: Our study aimed to investigate the value of Sylvian fossa sonographic biometry in the diagnosis of cerebral malformation in the second trimester of gestation. STUDY DESIGN: We prospectively established the normal values of the Sylvian fossa depth in a cohort of nonconsecutive patients, with singleton pregnancies and normal fetuses between 18+0 and 23+0 weeks' gestation. For each patient, a coronal view of the fetal brain, with a clear visualization of the anterior complex and the Sylvian fissure, was acquired by 1 sonologist, who also measured the depth of the fossa. Reproducibility for each parameter was assessed by a second sonologist using stored images. We also retrospectively acquired the same measurements in second trimester fetuses with central nervous system anomalies. RESULTS: In 103 fetuses with a normal sonogram, the mean depth of the Sylvian fossa was 3.9±0.8 mm Interobserver reproducibility analysis demonstrated good results. Notably, 11 of 31 fetuses with cerebral malformations had a Sylvian fossa depth of <-2 z-scores, and these were found to have malformations of cortical development, lissencephaly in particular, or microcephaly. CONCLUSION: Sonographic measurement of the Sylvian fossa during second trimester is feasible and reproducible. A shallow Sylvian fossa is associated with malformations of cortical development, microcephaly, or both.

Maternal perception of the risk of vertically transmitted infections: the impact of expert counseling.

BACKGROUND: Insufficient and imprecise information during pregnancy can lead to an overestimation of maternal and fetal risk associated to various exposures during gestation. OBJECTIVE: This study aimed to assess whether expert obstetrical counseling in cases of maternal infections at risk of vertical transmission could impact maternal perception of risk and the tendency to terminate pregnancy. STUDY DESIGN: This is a monocentric prospective observational study of 185 consecutive pregnant women with confirmed diagnosis of infectious diseases at risk of vertical transmission during the first or second trimester of pregnancy. Patients were divided into 2 different groups, according to the type infectious disease: infections at high risk of fetal damages and infections at low risk. Every woman included in the study underwent medical counseling with a physician with experience of vertically transmitted infections. Moreover, each woman involved in the study was offered a detailed second trimester ultrasound scan. Maternal concern for their pregnancy and the disposition to interrupt the pregnancy were investigated by 2 questionnaires submitted to patients before and after medical expert counseling; a third questionnaire was completed only by those women who decided to undergo second trimester ultrasound scan at our hospital. RESULTS: Of the 185 consecutive patients meeting the inclusion criteria, 171 (92.4%) filled out the visual analog scale for concern about the baby's health both before and after medical consultation. After medical consultation, there was a significant decrease in mean visual analog scale for concern: from 67.1±26.0 to 41.3±28.8 (change score, -25.8; 95% confidence interval, -29.9 to -21.7). Higher baseline levels of concern had more room for reduction, and infections at high fetal risk of damage were associated with lower decrease in concern. However, risk perception decreased in both low-risk and high-risk pregnancies. Notably, 82 patients (53.2%) underwent ultrasonography and filled out the visual analog scale after examination. The mean score after examination was 28.3±24.4 and significantly lower than the mean score registered after consultation (change score, -16.6; 95% confidence interval, -22.9 to -10.3). A total of 162 women (87.6%) declared their tendency to interrupt pregnancy both before and after the consultation. There was a significant decrease in mean tendency from 42.1±32.6 to 22.7±27.1 (change score, -19.4; 95% confidence interval, -23.6 to -15.2). Regression analysis revealed that both low- and high-risk patients significantly reduced their tendency. A total of 73 patients (45.1%) underwent ultrasonography and filled out the visual analog scale after examination. The mean score after examination was 9.9±20.6 and significantly lower than the mean score registered after consultation (change score, -13.4; 95% confidence interval, -19.1 to -7.7). CONCLUSION: Our results confirm the importance of a comprehensive and sufficient expert medical counseling that, on one hand, can reduce maternal risk perception, improving quality of life for mothers, and, on the other hand, can lead to feasible results, reducing a woman's disposition to termination of pregnancy.

Timing of induction for term prelabor rupture of membranes and intravenous antibiotics.

BACKGROUND: Induction of labor usually within 24 hours is recommended for term prelabor rupture of membranes. It is still unclear when within the 24 hours induction of labor for term prelabor rupture of membranes should be initiated. Antibiotic prophylaxis for group B Streptococcus is usually recommended for prolonged prelabor rupture of membranes. OBJECTIVE: The aim of our study was to evaluate whether induction of labor at ≤6 hours from prelabor rupture of membranes with intravenous oxytocin in singleton pregnancies at ≥37 weeks' gestation without regular uterine contractions reduces the administration of intravenous antibiotic agents. STUDY DESIGN: This was a retrospective cohort study including all women with prelabor rupture of membranes at ≥37 weeks' gestation and without regular uterine contractions in which labor was induced using intravenous oxytocin. Women were divided into 2 groups according to the timing of induction (≤6 hours vs >6 hours after prelabor rupture of membranes). RESULTS: A total of 166 women with term prelabor rupture of membranes were included, 53 of whom (31.9%) were induced within 6 hours of prelabor rupture of membranes and 113 (68.1%) were induced after 6 hours. There were no differences in demographic characteristics and risk factors for term prelabor rupture of membranes between the 2 groups. Women who underwent induction of labor at ≤6 hours were significantly less exposed to intravenous antibiotic prophylaxis compared with women induced at >6 hours (36% vs 80.5%, respectively; odds ratio, 0.14; 95% confidence interval, 0.07-0.28). Furthermore, for women induced within 6 hours after prelabor rupture of membranes, the chances of delivering at <12 or <24 hours were increased, nonreassuring cardiotocogram significantly less common, and hospital stay significantly shorter. No differences were found in regard to neonatal outcomes. CONCLUSION: Induction of labor at ≤6 hours with intravenous oxytocin after term prelabor rupture of membranes is significantly associated with lesser use of antibiotic agents, shorter latency to delivery, lower incidence of nonreassuring cardiotocogram, and shorter hospital stay than induction of labor at >6 hours after prelabor rupture of membranes.

Prenatal diagnosis of congenital heart defects and voluntary termination of pregnancy.

BACKGROUND: The prenatal diagnosis of an isolated congenital heart defect is a matter of concern for parents. The decision of whether to terminate the pregnancy according to the different types of congenital heart defects has not been investigated yet. OBJECTIVE: This study aimed to evaluate the frequency of voluntary termination of pregnancy after the prenatal diagnosis of a congenital heart defect in a tertiary care center. STUDY DESIGN: This was a retrospective study of patients who were referred to our center from January 2013 to December 2019, underwent fetal echocardiography, and were counseled by a perinatologist and a pediatric cardiologist. The following data were collected: prenatal diagnosis, including genetic testing; gestational age at diagnosis; and outcome of pregnancy. The diagnoses were stratified retrospectively according to the type of congenital heart defect and its severity (low complexity, moderate complexity, and high complexity) by a perinatologist and a pediatric cardiologist. RESULTS: Of 704 women who received a diagnosis of fetal congenital heart defect, 531 (75.4%) were seen before 23 weeks' gestation, which is the upper limit imposed for the termination of pregnancy by the Italian legislation. Congenital heart defects were apparently isolated in 437 of 531 cases (82.3%). Overall, 108 of 531 patients (20.3%) requested a termination of pregnancy. The rate of termination of pregnancy was found to vary according to the severity of congenital heart defects: low complexity, 0%; moderate complexity, 12.1%, and high complexity, 33.2% (P<.001). The presence or absence of associated anomalies or the ethnicity of the couples was not found to have an influence on women's decisions. CONCLUSION: In our population, the decision to terminate a pregnancy after the diagnosis of a fetal congenital heart defect is influenced by the surgical complexity of the congenital heart defect itself. However, most patients, including those with the most severe forms of congenital heart defect, decided to continue the pregnancy.

Sonographic diagnosis of fetal head deflexion and the risk of cesarean delivery.

BACKGROUND: Malpositions and deflexed cephalic malpresentations are well recognized causes of dysfunctional labor, may result in fetal and maternal complications, and are diagnosed more precisely with an ultrasound examination than with a digital examination. OBJECTIVE: This study aimed to assess the incidence of malpositions and deflexed cephalic malpresentations at the beginning of the second stage of labor and to evaluate the role of the sonographic diagnosis of deflexion in the prediction of the mode of delivery. STUDY DESIGN: Women in labor with a singleton pregnancy at term with fetuses in a cephalic presentation at 10 cm of cervical dilatation were prospectively examined. A transabdominal ultrasound was performed to assess the fetal head position by demonstrating the fetal occiput or the eyes. Deflexion was assessed by the measurement of the occiput-spine angle when the occiput was anterior or transverse and by qualitative assessment of the relationship between chin and thorax when the occiput was posterior. Transperineal ultrasound was performed in occiput posterior fetuses to discriminate between sinciput, brow, and face presentation. Maternal, labor, and neonatal parameters including maternal age, induction of labor, use of epidural, birthweight, arterial pH, and neonatal intensive care unit admission were recorded. Patients were divided into 2 groups according to the sonographic diagnosis of head deflexion. Adjusted odds ratios were calculated using multivariate logistic regression to determine the association between cesarean delivery and the 2 groups. In addition, labor and neonatal characteristics were compared between occiput anterior and occiput posterior-occiput transverse fetuses. RESULTS: Of the 200 women at the beginning of the second stage, the fetus was in occiput anterior position in 156 (78%), transverse in 11 (5.5%), and posterior in 33 (16.5%) cases. Deflexion was diagnosed in 33 of 156 (21.2%) occiput anterior fetuses and 19 of 44 (43.2%) occiput posterior and occiput transverse fetuses. Cesarean deliveries were significantly associated with fetal head deflexion both in occiput anterior (P=.001) and occiput posterior (P<.001) fetuses. Sonographic diagnosis of fetal head deflexion was an independent risk factor for cesarean delivery both in occiput anterior (adjusted odds ratio, 5.37; 95% confidence interval, 1.819-15.869) and occiput posterior (adjusted odds ratio, 13.9; 95% confidence interval, 1.958-98.671) cases, and it was an independent risk factor for cesarean delivery regardless of the occiput position (adjusted odds ratio, 5.83; 95% confidence interval, 2.47-13.73). CONCLUSION: The sonographic diagnosis of fetal head deflexion at the beginning of the second stage increases the risk of cesarean delivery.

Fetal Movement Counting and Perinatal Mortality: A Systematic Review and Meta-analysis.

OBJECTIVE: To assess the association of fetal movement counting with perinatal mortality. DATA SOURCES: Electronic databases (ie, MEDLINE, ClinicalTrials.gov, ScienceDirect, the Cochrane Library at the CENTRAL Register of Controlled Trials) were searched from inception until May 2019. Search terms used were: "fetal movement," "fetal movement counting," "fetal kick counting," "stillbirth," "fetal demise," "fetal mortality," and "perinatal death." METHODS OF STUDY SELECTION: We included all randomized controlled trials comparing perinatal mortality in those women randomized to receive instructions for fetal movement counting compared with a control group of women without such instruction. TABULATION, INTEGRATION AND RESULTS: The primary outcome was perinatal mortality. Five of 1,290 identified articles were included, with 468,601 fetuses. Definitions of decreased fetal movement varied. In four of five studies, women in the intervention group were asked to contact their health care providers if they perceived decreased fetal movement; the fifth study did not provide details. Reported reduction in fetal movement usually resulted in electronic fetal monitoring and ultrasound assessment of fetal well-being. There was no difference in the incidence of perinatal outcome between groups. The incidence of perinatal death was 0.54% (1,252/229,943) in the fetal movement counting group and 0.59% (944/159,755) in the control group (relative risk [RR] 0.92, 95% CI 0.85-1.00). There were no statistical differences for other perinatal outcomes as stillbirths, neonatal deaths, birth weight less than 10th percentile, reported decreased fetal movement, 5-minute Apgar score less than 7, neonatal intensive care unit admission or perinatal morbidity. There were weak but significant increases in preterm delivery (7.6% vs 7.1%; RR 1.07, 95% CI 1.05-1.10), induction of labor (36.6% vs 31.6%; RR 1.15, 95% CI 1.09-1.22), and cesarean delivery (28.2% vs 25.3%; RR 1.11, 95% CI 1.10-1.12). CONCLUSION: Instructing pregnant women on fetal movement counting compared with no instruction is not associated with a clear improvement in pregnancy outcomes. There are weak associations with some secondary outcomes such as preterm delivery, induction of labor, and cesarean delivery. SYSTEMATIC REVIEW REGISTRATION: PROSPERO, CRD42019123264.

Potential for Mitochondrial DNA Sequencing in the Differential Diagnosis of Gynaecological Malignancies.

In the event of multiple synchronous gynecological lesions, a fundamental piece of information to determine patient management, prognosis, and therapeutic regimen choice is whether the simultaneous malignancies arise independently or as a result of metastatic dissemination. An example of synchronous primary tumors of the female genital tract most frequently described are ovarian and endometrial cancers. Surgical findings and histopathological examination aimed at resolving this conundrum may be aided by molecular analyses, although they are too often inconclusive. High mitochondrial DNA (mtDNA) variability and its propensity to accumulate mutations has been proposed by our group as a tool to define clonality. We showed mtDNA sequencing to be informative in synchronous primary ovarian and endometrial cancer, detecting tumor-specific mutations in both lesions, ruling out independence of the two neoplasms, and indicating clonality. Furthermore, we tested this method in another frequent simultaneously detected gynecological lesion type, borderline ovarian cancer and their peritoneal implants, which may be monoclonal extra-ovarian metastases or polyclonal independent masses. The purpose of this review is to provide an update on the potential use of mtDNA sequencing in distinguishing independent and metastatic lesions in gynecological cancers, and to compare the efficiency of molecular analyses currently in use with this novel method.

Pathological and molecular diagnosis of bilateral inguinal lymph nodes metastases from low-grade endometrial adenocarcinoma: a case report with review of the literature.

BACKGROUND: Extra-abdominal metastases in low grade endometrial carcinoma are rare events. Inguinal lymphatic spread occurs usually in advanced disease and is associated with abdominal lymph nodes involvement. To our knowledge, isolated inguinal lymph node metastases in patients with early endometrial carcinoma have never been described thus far. CASE PRESENTATION: We present an uncommon case of inguinal lymph node metastasis in a 51-year old patient with early endometrial disease without other metastatic involvement. The metastatic loci were analyzed with the recently validated method of mitochondrial DNA sequencing to demonstrate clonality of the lesions. CONCLUSIONS: We describe the first case of inguinal metastasis from intramucous endometrial carcinoma; this case confirms the unpredictable spread of endometrial neoplasia and the importance of both patient's history and physical examination in good clinical practice.

A surgical multi-layer technique for pelvic reconstruction after total exenteration using a combination of pedicled omental flap, human acellular dermal matrix and autologous adipose derived cells.

•A multi-layer technique for reconstruction after pelvic exenteration is proposed.•Human acellular dermal matrix used in reconstruction after total pelvic exenteration.•A reconstructive technique based on human dermis, omental flap and fat is proposed.