Incidence of gastro-intestinal anomalies and surgical outcome of fetuses diagnosed with echogenic bowel and bowel dilatation.

BACKGROUND: We aimed to evaluate the incidence of gastro-intestinal (GI) anomalies and surgical outcome in fetuses diagnosed with either echogenic bowel (EB) or EB plus bowel dilatation (BD) but no associated chromosomal, DNA and/or additional structural defects. METHODS: A 10-year (2008-2018) retrospective review was performed on all fetuses diagnosed with EB and EB+BD (RES-18-0000-072Q). Results are reported as number of cases (%) and mean ±SD. Fisher's exact test, Mann-Whitney U test and logistic regression were used to identify differences between groups and predisposing factors for gastro-intestinal anomalies. RESULTS: We identified 41 fetuses with EB and 14 fetuses with EB+BD. Post-natal surgical intervention was required in no patient of the EB group and in 7/14 (50%) of the EB+BD group, p<0.001. The risk of having a GI anomaly was higher in the EB+BD group (RR 42.0 [2.5-691.6]; p=0.009). Advanced maternal age (p=0.04), ascites (p=0.006) and polyhydramnios (p=0.007) were associated with a higher incidence of GI pathology. CONCLUSIONS: In fetuses with no associated chromosomal, DNA and/or additional structural defects, the finding of EB+BD is associated with 50% incidence of GI anomalies at birth. Advanced maternal age, ascites and polyhydramnios are also associated with higher incidence of GI pathology at birth.

Isolated ventriculomegaly on prenatal ultrasound: what does fetal MRI add?

INTRODUCTION: Cerebral ventriculomegaly is one of the most commonly detected fetal anomalies at the midtrimester ultrasound. Current evidence suggests that magnetic resonance imaging (MRI) is indicated when the isolated ventriculomegaly (IVM) on ultrasound is severe (>15 mm), but there is less agreement when IVM is mild or moderate (10-15 mm). The current study aimed to determine the frequency and nature of additional findings on MRI in IVM and their relationship to the severity of VM and gestational age. METHODS: Data were gathered prospectively from all pregnant women with ultrasound-diagnosed IVM referred for MRI between November 2006 and February 2013. Cases with IVM and no other suspected cranial abnormality on a tertiary ultrasound performed at our institution, at or after 20 weeks gestation, were included. RESULTS: Of the 59 fetuses with unilateral or bilateral IVM, additional findings were seen on MRI in 10 cases (17%) and half of these findings were identified in fetuses with mild IVM. Five of 40 (12.5%) fetuses with mild IVM had additional findings and 3/5 (60%) were potentially clinically significant. No additional abnormalities were identified in fetuses less than or equal to 24 weeks gestation with mild or moderate IVM. There was no statistically significant relationship between gestational age and additional findings on MRI in mild IVM. Callosal and septum pellucidum lesions, periventricular abnormalities and malformations of cortical development accounted for all of the significant additional findings. CONCLUSION: This study helps to inform referral of pregnant women with a fetus who has IVM for prenatal MRI.

Cytomegalovirus in pregnancy: to screen or not to screen.

BACKGROUND: Cytomegalovirus (CMV) infection is now the commonest congenital form of infective neurological handicap, recognized by the Institute of Medicine as the leading priority for the developed world in congenital infection. In the absence of an effective vaccine, universal screening for CMV in pregnancy has been proposed, in order that primary infection could be diagnosed and- potentially- the burden of disability due to congenital CMV prevented. DISCUSSION: Universal screening for CMV to identify seronegative women at the beginning of pregnancy could potentially reduce the burden of congenital CMV in one of three ways. The risk of acquiring the infection during pregnancy has been shown to be reduced by institution of simple hygiene measures (primary prevention). Among women who seroconvert during pregnancy, CMV hyperimmune globulin (CMV HIG) shows promise in reducing the risk of perinatal transmission (secondary prevention), and CMV HIG and/ or antivirals may be effective in reducing the risk of clinical sequelae among those known to be infected (tertiary prevention). The reports from these studies have re-ignited interest in universal screening for CMV, but against the potential benefit of these exciting therapies needs to be weighed the challenges associated with the implementation of any universal screening in pregnancy. These include; the optimal test, and timing of screening, to maximize detection; an approach to the management of equivocal results, and the cost effectiveness of the proposed screening program. In this article, we provide an overview of current knowledge and ongoing trials in the prevention, diagnosis and management of congenital CMV. Recognising that CMV screening is already being offered to many patients on an ad hoc basis, we also provide a management algorithm to guide clinicians and assist in counseling patients. SUMMARY: We suggest that- on the basis of current data- the criteria necessary to recommend universal screening for CMV are not yet met, but this position is likely to change if trials currently underway confirm that CMV HIG and/ or antivirals are effective in reducing the burden of congenital CMV disease.

Fibroid-associated heavy menstrual bleeding: correlation between clinical features, Doppler ultrasound assessment of vasculature, and tissue gene expression profiles.

Despite the prevalence of uterine fibroids (Fs), few studies have investigated the links between clinical features and the cellular or molecular mechanisms that drive F growth and development. Such knowledge will ultimately help to differentiate symptomatic from asymptomatic Fs and could result in the development of more effective and individualized treatments. The aim of this study was to investigate the relationship between ultrasound appearance, blood flow, and angiogenic gene expression in F, perifibroid (PM), and distant myometrial (DM) tissues. We hypothesized that angiogenic gene expression would be increased in tissues and participants that showed increased blood flow by Doppler ultrasound. The study was performed using Doppler ultrasound to measure blood flow prior to hysterectomy, with subsequent tissue samples from the F, PM, and DM being investigated for angiogenic gene expression. Overall, PM blood flow (measured as peak systolic velocity [PSV]) was higher than F blood flow, although significant heterogeneity was seen in vascularity and blood flow between different Fs and their surrounding myometrium. We did not find any correlation between PSV and any other clinical or molecular parameter in this study. We identified 19 angiogenesis pathway-related genes with significant differences in expression between F and DM, and 2 genes, matrix metalloproteinase 9 (MMP9) and Neuropilin 2 (NRP2), that were significantly different between F and PM. These results are consistent with subtle differences between PM and DM. Understanding the differences between symptomatic versus asymptomatic Fs may eventually lead to more effective treatments that directly target the source of heavy menstrual bleeding.

Prognostic factors of severe foetal megacystis.

BACKGROUND: At antenatal ultrasound, severe megacystis implies high foetal mortality rate. Traditionally, many of these foetuses undergo termination of pregnancy. We undertook a study to investigate the prognostic factor(s) for megacystis foetuses. METHODS: 61 consecutive cases of antenatally diagnosed severe megacystis between 1988 to 2008 were reviewed from a statewide tertiary referral centre for major foetal abnormalities. The data included the ultrasonic measurements and post-mortem pathologies. RESULTS: Mean gestational age (GA) at diagnosis was 17.0 weeks (range 11 to 39). The average bladder diameters for GA 10 to 14 weeks, 15 to 26 weeks, and 27 to 39 weeks were 32.5 mm, 45.7 mm, and 57.2 mm respectively. In males the most common cause of megacystis was posterior urethral valves in 32.6% (n = 17). The most common cause in females was urethral stenosis in 33% (n = 3). We compared the relative bladder size (as a percentage of normal for that gestational age) between the survivor group (n = 14) and the foetal/neonatal death group (n = 17). All terminations (n = 20) were excluded. The bladder sizes of the two groups were almost identical (310.2 ± 108% vs. 309.8 ± 120%). We analysed various prognostic factors. Megacystis foetuses with oligohydramnios had an increased risk of death compared to those who had megacystis without oligohydramnios (OR = 6.0; 95% CI 1.26 - 28.5, Chi-square: P = 0.019). CONCLUSION: Relative bladder size alone does not predict survival. The combination of severe megacystis and oligohydramnios implies complete obstruction of bladder outlet and is associated with high mortality rate. This provides clinicians with measurable evidence to predict survival. It also gives parents the option of avoiding unnecessary termination of pregnancy.

Ovarian status in healthy postmenopausal women: follow-up 12 months after transvaginal ultrasound.

OBJECTIVE: We have previously reported on the point prevalence of ovarian lesions detected by transvaginal ultrasound (TVU) in 515 asymptomatic women at least 5 years postmenopause. The aims of this study were to report, in the same women, on the repeatability of visualization of the ovaries (TVU) and the natural history of ovarian lesions seen at baseline but not treated surgically and to assess whether any women developed new ovarian abnormalities 12 months later. METHODS: The study involved a cohort of 515 postmenopausal women recruited from the community, at least 5 years past their last period. They were assessed at baseline and again after 12 months with TVU and serum levels of inhibin and CA-125. RESULTS: The right and left ovaries were seen on both occasions in 80% and 68% of women, respectively. Of the 49 women who had an ovarian lesion at baseline, did not undergo surgery at that time, and had a follow-up TVU, the lesion was unchanged 12 months later in 30 women. Four women developed a new ovarian lesion within the 12 months. None of the 14 women who underwent surgery on the basis of the ovarian appearance at baseline, or the 2 who had surgery on the basis of the ovarian appearance at follow-up, had an ovarian malignancy. CONCLUSIONS: The use of TVU in women at least 5 years after menopause is problematic because the ovaries cannot be visualized in all women and because TVU has the potential to identify many benign lesions that would otherwise remain undetected. These are important considerations in weighing up the risks and benefits of using TVU as a screening tool.

Ovarian status in healthy postmenopausal women.

OBJECTIVE: There are currently no programs to assess ovarian health in postmenopausal women. The aim of this study was to describe the ovaries in healthy women at least 5 years after menopause by questionnaire, transvaginal ultrasonography, and blood ovarian cancer markers. DESIGN: A total of 515 women who were asymptomatic and at the Stages of Reproductive Aging Workshop +2 stage of menopause (>5 y postmenopause) were recruited by advertisement. Clinical history was obtained by questionnaire, and biophysical assessment by a transvaginal ultrasound investigation and biochemical assessment by serum CA-125 and inhibin were performed. Abnormal findings were confirmed and then reviewed. RESULTS: Both ovaries were identified by transvaginal ultrasonography in 71% of women. The right ovary was visualized in 86.3% of these volunteers, and the left ovary was visualized in 78%. The presence of small unilocular cysts and echogenic foci facilitated identification of the ovary in some women. Ovarian/paraovarian lesions were present in 12.6% of women. Abnormalities of the endometrium and uterus were also common, prompting surgery in 7.2% of the women. Total serum inhibin concentrations were normal for postmenopausal women, whereas serum CA-125 was elevated in two women. CONCLUSIONS: We find that the description and detection of postmenopausal ovaries by transvaginal ultrasonography allows the identification of both ovaries in most postmenopausal women. Ultrasonography-detected abnormalities of the ovary and/or the uterus/endometrium are common in women at this stage of life. The potential need for surgical intervention after the detection of such abnormalities needs to be carefully evaluated when considering transvaginal ultrasonography as a screening tool for ovarian cancer.

Optimising the timing for nuchal translucency measurement.

It appears from current evidence that the most effective screening strategy for Down syndrome will involve a combination of first trimester nuchal translucency and serum biochemistry, whether performed in the first or second trimester. The aim of this study was to determine the optimum gestation based upon menstrual dates at which to schedule nuchal translucency (NT) measurement for the evaluation of fetal Down syndrome risk. Five thousand eight hundred and thirty-five pregnancies had an ultrasound scan scheduled between 11 and 14 completed weeks of gestation based upon either the last menstrual period (n = 3199) or a prior ultrasound scan (n = 2636). For last menstrual period-based ultrasound scans, with advancing gestation the frequency of missed miscarriage significantly decreased (p = 0.009, chi squared test), as did the need to reschedule a further scan because the gestation of the scheduled scan was too early to measure NT (p < 0.0001, Chi-squared test). In contrast, with advancing gestation the rate of unsuccessful NT measurement because the crown-rump length (CRL) was greater than 84 mm significantly increased (p < 0.0001, Chi-squared test). Of the women who had had an earlier ultrasound, 42 (1.6%) had a missed miscarriage and 9 (0.3%) were over gestation at the time of the NT scan. These data suggest that when only the last menstrual period is known the optimum time to schedule a nuchal translucency measurement is at 12 to 13 weeks' gestation.