Cell-free DNA screening for rare autosomal trisomies and segmental chromosome imbalances.

OBJECTIVE: To assess the outcomes of pregnancies at high-risk for rare autosomal trisomies (RATs) and segmental imbalances (SIs) on cell-free DNA (cfDNA) screening. METHOD: A retrospective study of women who underwent cfDNA screening between September 2019 and July 2021 at three ultrasound services in Australia. Positive predictive values (PPVs) were calculated using fetal chromosomal analysis. RESULTS: Among 23,857 women screened, there were 93 high-risk results for RATs (0.39%) and 82 for SIs (0.34%). The PPVs were 3.8% (3/78, 95% CI 0.8%-10.8%) for RATs and 19.1% (13/68, 95% CI 10.6%-30.5%) for SIs. If fetuses with structural anomalies were also counted as true-positive cases, the PPV for RATS increased to 8.5% (7/82, 95% CI 3.5%-16.8%). Among 85 discordant cases with birth outcomes available (65.4%), discordant positive RATs had a significantly higher proportion of infants born below the 10th and 3rd birthweight percentiles than expected (19.6% (p = 0.022) and 9.8% (p = 0.004), respectively), which was not observed in the SI group (2.9% < 10th (p = 0.168) and 0.0% <3rd (p = 0.305)). CONCLUSION: The PPVs for SI and RAT results are low, except when a structural abnormality is also present. Discordant positive RATs are associated with growth restriction.

Effectiveness of ultrasound-guided removal of intrauterine devices.

A retrospective review over 12 months was conducted to assess the success rates for ultrasound-guided removal of an intrauterine device (IUD). Cases were broken up into two groups. There were 241 cases in which removal had been unsuccessful in the office setting. Where the strings were not visible the device was successfully removed in 97.7% of attempts. The second group had visible strings and 100% were successfully removed. The success rate for ultrasound-guided removal of IUDs when the strings are not visible supports the pilot study published in 2012. This approach can successfully avoid the need for sedation and or hospital admission in over 97% of cases.

Lipiodol flushing under ultrasound guidance at time of hystero-salpingo contrast sonography (HyCoSy): A retrospective observational study.

BACKGROUND: Up to 30% of female infertility can be attributed to tubal abnormalities. Assessment of fallopian tube patency forms a component of the basic assessment of infertility. Tubal patency can be checked through hysterosalpingogram (HSG) under radiologic guidance with oil- or water-based contrast medium (OBCM or WBCM), or hystero-salpingo contrast sonography (HyCoSy) under ultrasound guidance with WBCM. Tubal flushing with OBCM has been shown to improve fertility rates. OBJECTIVES: To study the feasibility and tolerability of performing Lipiodol (ethiodised oil) flush concurrently with HyCoSy. To examine the in vivo sonographic visibility of Lipiodol vs normal saline. MATERIALS AND METHODS: Retrospective observational study of patients with subfertility referred for Lipiodol flushing under ultrasound guidance between August 2017-September 2020 at six private ultrasound practices in Sydney, Australia. RESULTS: There were 412 patients who were referred for Lipiodol flushing. Of these, 86 patients did not have concurrent Lipiodol flush at HyCoSy performed due to strict exclusion criteria. Of the 326 patients who proceeded with Lipiodol flushing at HyCoSy, all cases were successful, with no cases of extravasation. There were no major complications. In vivo sonographic visualisation of Lipiodol was similar to that of the commonly used agitated 0.9% saline (n = 20; mean visibility score 4.3 ± 0.9 vs 4.0 ± 1.2). CONCLUSION: Our study has shown that Lipiodol flushing at time of HyCoSy as a single procedure is feasible and tolerable to patients. Flushing with Lipioidol during HyCoSy is likely as sonographically visible as 0.9% saline.

Fetal dural sinus malformation: A case report and discussion of the literature.

INTRODUCTION: Fetal dural sinus malformation is a rare but important finding during pregnancy as it has the potential for significant complications. METHODS: Here we present a case of fetal dural sinus malformation and review the current literature relevant to this condition. RESULTS: We present the case of a 33-year-old woman who had fetal dural sinus malformation containing thrombus diagnosed at morphology ultrasound and confirmed on fetal magnetic resonance imaging (MRI). Serial ultrasounds demonstrated the sinus to reduce significantly in size over the course of the pregnancy. The woman delivered a healthy, term baby and there was no evidence of any neurological compromise in the early neonatal period. DISCUSSION: This case is in keeping with a recent systematic review, which identified 78 previous cases of fetal dural sinus thrombosis and reported good outcomes in most cases. CONCLUSION: It therefore appears reasonable, in most cases of isolated dural sinus malformation, to monitor the progress of the lesion and continue managing the pregnancy as usual.

A Delayed Case of Uterine Perforation with Omental Adhesions.

Uterine perforation is an uncommon but potential risk during all intrauterine procedures. We display a set of images from ultrasound, hysteroscopy, and laparoscopy, as well as a video from laparoscopy, pertaining to a case of uterine perforation with omental adhesions. The complication was diagnosed several months after dilatation of the cervix and curettage of the uterus following a missed miscarriage. This is a rare but serious complication following a commonly performed procedure and the case highlights the importance of investigating new symptoms even after a seemingly uncomplicated procedure.

Lipiodol visibility under ultrasound.

BACKGROUND: Lipiodol is an oil-based solution commonly used in hysterosalpingogram (HSG), but not hysterosalpingo contrast sonography (HyCoSy). In women with unexplained infertility, evidence suggests that tubal flushing with Lipiodol results in improved fertility post-procedure. We propose that Lipiodol can be visualised under ultrasound similar to commonly used saline, and hence utilised for HyCoSy, allowing the benefit of an oil-based tubal flushing to occur with HyCoSy. AIMS: To examine whether Lipiodol is visible sonographically, assess optimal agitated Lipiodol mix and ultrasound settings for visibility, and compare visibility to agitated saline, routinely used for HyCoSy. MATERIALS AND METHODS: Two separate sonographers with identical ultrasound machines and model pelvises recorded images with varying degrees of agitated Lipiodol and ultrasound settings, in addition to capturing images with no fluid and agitated saline. Each test was performed in quadruplicate and in random order. Images were read by 47 blinded reporters and visibility reported on a scale of one (not visible) to five (clearly visible). RESULTS: The mean visibility score for images captured where the Lipiodol sample was agitated five times prior to injection to allow the formation of air microbubbles, regardless of ultrasound setting, were higher than or not different from that for agitated saline (all P > 0.7 when not different, <0.001 when higher). CONCLUSIONS: Sonographic visualisation of agitated Lipiodol is similar or better than that of agitated saline. Lipiodol may therefore present a possibility for use with HyCoSy, with the added benefit of oil-based tubal flushing, avoiding the radiation exposure of HSG and concurrently providing pelvic soft-tissue evaluation.

Guidelines for the performance of the first trimester ultrasound.

The purpose of this document is to guide ultrasound practitioners in providing accurate information on the assessment of gestational age, viability and fetal development in the first trimester. In the presence of twins and higher order multiple pregnancies, it is also intended to assess chorionicity and amnionicity which have implications for risk assessment and continuing antenatal care. This guideline has been adopted by the ASUM Council and is applicable to all ultrasound practitioners.

Sex chromosome aneuploidy screening in a general population.

Cell-free fetal DNA testing is being used in parallel or in contingency screening as part of the first trimester screen. The test has high sensitivity and specificity for the trisomies 21, 18 and 13. The test also offers the option of assessing sex chromosome aneuploidies (SCA) which are recognised to be the next most common group of aneuploidies in the live birth population. Companies that offer the sex chromosome assessment report an accuracy rate of above 99% and a significant number of high-risk results have been detected in a multi-site Australian ultrasound practice. A high proportion of these women underwent prenatal testing to further assess the sex chromosomes. This study reports the results of these invasive investigations and results show that many of the high-risk SCA results appear to be false positives. This study reports the clinical experience of cell-free fetal DNA (cfDNA) testing with regard to sex chromosome aneuploidies in singleton pregnancies for a multi-site Sydney specialist O&G Ultrasound practice.

The effectiveness and safety of ultrasound-guided removal of a Mirena(®) intrauterine system when the strings are not visible and conventional office procedures have failed.

UNLABELLED: Missing threads are a common complication at the time of removal of a Mirena(®) intrauterine system (IUS). In the office setting, various different instruments have been used to retrieve the threads, such as artery forceps to grasp the threads, or hooks to ensnare them. These procedures are usually performed blindly, and they have varying degrees of success. In cases where office procedures have failed, women are referred for hysteroscopic removal. Ultrasound guidance may improve the success rate of IUS removal without the need for more invasive procedures such as hysteroscopy. AIM: To assess the effectiveness and safety of ultrasound-guided Mirena(®) intrauterine system removal when the strings are not visible and conventional office procedures have failed. METHOD: Information on women who were referred for ultrasound-guided removal of a Mirena(®) device when office procedures had failed was collected prospectively. RESULTS: Of the 38 cases attempted, 33 devices were successfully removed without complication. CONCLUSION: Ultrasound guidance is a useful adjunct for the removal of a Mirena(®) intrauterine system when the strings are not visible and outpatient procedures have failed.

Müllerian dysgenesis: a review of recent outcomes at Royal Hospital for Women.

BACKGROUND: Müllerian dysgenesis occurs in approximately 1 in 5000 live-born females. There have been many methods described for creation of a functionally useful vagina in cases of Müllerian dysgenesis. Given the number of available methods and the infrequency of the condition, outcome data can be difficult to obtain. AIM: To perform a retrospective review of presentation, treatment and outcomes in cases of Müllerian dysgenesis seen at the adolescent gynaecology unit at the Royal Hospital for Women, Sydney. METHODS: Thirty women with Müllerian dysgenesis were identified between January 2000 and December 2004. Of these, 23 had Müllerian agenesis and seven had partial vaginal agenesis. As this audit and review conform with the standards established by the National Health and Medical Research Council for ethical quality review, ethics approval was not sought. RESULTS: Dilator therapy under the guidance of a trained clinical nurse educator was successful in creating a functionally useful vagina and was well tolerated in all cases of Müllerian agenesis. Patients suffering from segmental vaginal agenesis all had surgical creation of a neovagina with the aid of an amnion vaginoplasty. All patients who were referred following surgical drainage of their haematocolpos outside the unit became infected and needed to undergo further surgery prior to creation of a neovagina. Fibrotic vaginal bands developed only in these patients. CONCLUSION: The outcomes reinforce the TASPAG guidelines of management for Müllerian dysgenesis, which suggest that dilators are generally effective in creating a functionally useful vagina, and if surgery is required, the primary operation should be definitive and performed by well-trained experts.