Fertility and Pregnancy in Women with Transfusion-Dependent Thalassemia.

Because women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both mother and baby require concerted and collaborative efforts between the hematologist, obstetrician, cardiologist, hepatologist, and genetic counselor among others. Proactive counseling, early fertility evaluation, optimal management of iron overload and organ function, and application of advances in reproductive technology and prenatal screening are important in ensuring a healthy outcome. Many unanswered questions remain requiring further study, including fertility preservation, non-invasive prenatal diagnosis, chelation therapy during pregnancy, and indications and duration of anticoagulation.

Fetal Orbital Epidermal Cyst Pre-postnatal Imaging Findings: A Case Report and Literature Review.

BACKGROUND: Fetal ultrasonographic evaluation is a routine part of pregnancy follow-up, and examination of orbital structures is also part of the routine evaluation. Although orbital developmental anomalies are common in the neonatal period, diagnosis in the intrauterine period is not common. To our knowledge, three cases with a diagnosis of congenital orbital epidermal cysts have been reported in the literature, and two of them had fetal imaging findings. In this article, we present the prepostnatal imaging findings of a case diagnosed with orbital cyst in the fetal period and histopathologically diagnosed as epidermal cyst in the neonatal period. CASE REPORT: A 25-year-old woman applied for ultrasonography (USG) examination at 22 weeks of gestation. A 35x45 mm cystic lesion causing proptosis, without solid component and vascularity, surrounding the optic nerve and causing its thinning was observed in the left orbit. In fetal magnetic resonance imaging (MRI), the intraorbital cystic lesion, which was hyperintense on T2W images and hypointense on T1W images, had no relationship with intracranial structures and no solid component. The lesion of the patient, followed up with a multidisciplinary approach, was shown similarly with computed tomography (CT) and magnetic resonance imaging (MRI) in the postnatal period. Subsequently, the patient underwent globe-sparing surgery, and the pathological diagnosis was made as the epidermal cyst. CONCLUSION: Orbital epidermal cysts are rarely seen, and detection in the fetal period is even rarer. It should be considered in the differential diagnosis of orbital cystic lesions that cause proptosis in fetal and neonatal periods.

Prenatal diagnosis and intervention improve developmental outcomes and epilepsy prognosis in children with tuberous sclerosis complex.

AIM: To assess whether prenatal diagnosis and early intervention are beneficial for developmental outcomes and epilepsy prognosis in individuals with tuberous sclerosis complex (TSC). METHOD: This retrospective study originated from a single-centre TSC-specific cohort. We enrolled 273 individuals (138 males, 145 females; 2 years-7 years 6 months, mean 4 years 5 months, SD 1 year 6 months) with definitive TSC who completed TSC1/TSC2 genetic testing and were followed up to 2 years of age. The benefits of early attention and intervention were assessed by comparing epilepsy and developmental outcomes between groups with or without a prenatal diagnosis and with or without presymptomatic preventive intervention. RESULTS: The epilepsy occurrence rate was significantly lower in individuals diagnosed prenatally than in individuals diagnosed postnatally (p = 0.027). In individuals diagnosed prenatally, the epilepsy rate in the preventive intervention subgroup was significantly lower than that in the subgroup without preventive intervention (p = 0.008). Significant improvements in cognitive, language, and motor development were observed in individuals diagnosed prenatally compared to individuals diagnosed postnatally and in the preventive intervention subgroup compared to the subgroup without preventive intervention (p < 0.05). INTERPRETATION: Based on this study, we cautiously speculate that early postpartum intervention may reduce the incidence of epilepsy and intractable epilepsy and improve developmental outcomes. Prophylactic intervention with sirolimus and vigabatrin may reduce the incidence of epilepsy. Larger prospective randomized controlled studies are required to support these findings. WHAT THIS PAPER ADDS: Prenatal diagnosis and early intervention may improve developmental outcomes in children with tuberous sclerosis complex (TSC). Prophylactic intervention with sirolimus and vigabatrin may reduce the incidence of epilepsy. Cardiac and/or intracranial lesions combined with genetic testing can be used to diagnose TSC prenatally.

Pediatric vascular anomalies with airway compromise.

Vascular anomalies are rare lesions of diverse nature that may affect the head and neck region. Any mass in or around the upper airway has the potential to obstruct or compromise it. The absolute priority, before etiologic treatment, is the evaluation of the risk for the airway and its management. Prenatal diagnosis of an upper airway obstruction requires a planned delivery in a center having a specialized team experienced in managing a compromised feto-neonatal airway, and who could perform an ex-utero intrapartum treatment to secure the airway. Even after birth, the airway remains central in the patient's overall management. Signs and symptoms of airway compromise must be evaluated keeping in mind the specific requirements of infants and small children and being aware that rapid worsening may occur. The treatment is then tailored to the patient and his lesion with the goal of improving symptoms while avoiding treatment-related complications. Maintaining reasonable expectations by the patient and families are part of a successful management. Cure is achievable for small and localized lesions, but symptom relief and mitigation of functional, esthetic and psychological impairments is the goal for large and complex lesions. If a tracheotomy was required, decannulation is one of the primary management goals.

Risk of fetal loss after chorionic villus sampling in twin pregnancy derived from propensity score matching analysis.

OBJECTIVE: To estimate the risk of fetal loss associated with chorionic villus sampling (CVS) in twin pregnancy, using propensity score analysis. METHODS: This was a multicenter cohort study of women with twin pregnancy undergoing ultrasound examination at 11-13 weeks' gestation, performed in eight fetal medicine units in which the leadership were trained at the Harris Birthright Research Centre for Fetal Medicine in London, UK, and in which the protocols for screening, invasive testing and pregnancy management are similar. The risk of death of at least one fetus was compared between pregnancies that had and those that did not have CVS, after propensity score matching (1:1 ratio). This procedure created two comparable groups by balancing the maternal and pregnancy characteristics that lead to CVS being performed, similar to how randomization operates in a randomized clinical trial. RESULTS: The study population of 8581 twin pregnancies included 445 that had CVS. Death of one or two fetuses at any stage during pregnancy occurred in 11.5% (51/445) of pregnancies in the CVS group and in 6.3% (515/8136) in the non-CVS group (P < 0.001). The propensity score algorithm matched 258 cases that had CVS with 258 non-CVS cases; there was at least one fetal loss in 29 (11.2%) cases in the CVS group and in 35 (13.6%) cases in the matched non-CVS group (odds ratio (OR), 0.81; 95% CI, 0.48-1.35; P = 0.415). However, there was a significant interaction between the risk of fetal loss after CVS and the background risk of fetal loss; when the background risk was higher, the risk of fetal loss after CVS decreased (OR, 0.46; 95% CI, 0.23-0.90), while, in pregnancies with a lower background risk of fetal loss, the risk of fetal loss after CVS increased (OR, 2.45; 95% CI, 0.95-7.13). The effects were statistically significantly different (P-value of the interaction = 0.005). For a pregnancy in which the background risk of fetal loss was about 6% (the same as in our non-CVS population), there was no change in the risk of fetal loss after CVS, but, when the background risk was more than 6%, the posterior risk was paradoxically reduced, and when the background risk was less than 6%, the posterior risk increased exponentially; for example, if the background risk of fetal loss was 2.0%, the relative risk was 2.8 and the posterior risk was 5.6%. CONCLUSION: In twin pregnancy, after accounting for the risk factors that lead to both CVS and spontaneous fetal loss and confining the analysis to pregnancies at lower prior risk, CVS seems to increase the risk of fetal loss by about 3.5% above the patient's background risk. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Amniotic fluid stem cells and the cell source repertoire for non-invasive prenatal testing.

Cell-free fetal DNA (cffDNA)-based non-invasive prenatal testing (NIPT) is considered to be a very promising screening tool for pregnant women with an increased risk of fetal aneuploidy. Already millions of women worldwide underwent NIPT. However, due to the observed false-positive and false-negative results, this screening approach does not fulfil the criteria of a diagnostic test. Accordingly, positive results still require risk-carrying invasive prenatal testing, such as amniocentesis or chorionic villus sampling (CVS), for confirmation. Such hurdles need to be overcome before NIPT could become a diagnostic approach widely used in the general population. Here we discuss new evidence that besides the placenta amniotic fluid stem cells (AFSCs) could also represent an origin of cffDNA in the mother's blood. A comprehensive picture of the involved cell source repertoire could pave the way to more reliable interpretations of NIPT results and ameliorate counselling of advice-seeking patients.

Thoracoscopy versus thoracotomy for congenital lung malformations treatment: A single center experience.

INTRODUCTION: Our aim is to compare thoracoscopy to thoracotomy in the treatment of congenital lung malformations (CLM) in children. MATERIALS AND METHODS: We report a retrospective monocentric cohort study. Patients treated at our Center for CLM (1991-2020) were divided in two groups: patients treated with video-assisted thoracoscopic surgery (VATS) and open thoracotomy (OT). Characteristics of the two groups were compared through statistical analysis (GraphPad Prism7). A p value less than .05 was considered statistically significant. RESULTS: One hundred six patients were included: 58 in VATS group, 48 in OT group. Prenatal diagnosis was possible in 73.6%. The most frequent surgical procedures were lobectomy (43.4%) and sequestrectomy (22.6%). All VATS patients underwent lung exclusion, mostly by endobronchial blocker (69%). Mean operative time was 146.1 min (±52.04 SD) in VATS and 159.2 (±46.53 SD) in OT (p = .1973). Conversion to OT was necessary in 20.6% of VATS patients, but decreased in the last 5 years (6.2%). There were not any intraoperative complication. Respectively in VATS and OT group, length of stay (LOS) was 4.5 days ± 3.6 SD versus 7.7 ± 3.4 SD (p < .0001), chest tube duration 2.8 days ± 3.4 SD versus 3.7 ± 2.4 SD (p < .0001), antibiotic treatment duration 3.7 days ± 4.7 SD versus 5 ± 2.6 SD (p = .1196). Postoperative complications were described in 22.6%. The commonest histological diagnosis (40.6%) was congenital pulmonary airway malformation. CONCLUSION: VATS resulted a feasible, effective and safe technique. Operative time and postoperative complications were similar in VATS and OT groups. VATS conversion rate decreased in time. VATS had a statistically significant shorter LOS and chest tube duration.

Impact of simulation-based prenatal invasive procedure training on professional practice, a preliminary study.

INTRODUCTION: Amniocentesis and chorionic villus sampling remain the cornerstone of prenatal diagnosis. These procedures are associated with a risk of miscarriage estimated at approximately 0.5 %. Our team has developed a training model for performing simulation-based prenatal invasive procedures. Several simulation sessions are offered each year to obstetricians-gynecologists involved in fetal medicine in France and abroad. This simulation-based learning has already been conclusively evaluated according to levels I and II of the Kirkpatrick model. Here, we carried out a preliminary study according to level III: does participation in training in prenatal invasive procedures through simulation have an influence on professional practice? METHODS: An anonymous online survey was sent to 82 obstetricians-gynecologists who participated in the training in prenatal invasive procedures at the Antoine Béclère maternity hospital between January 1st, 2014 and December 31, 2018. This questionnaire, entitled "Evaluation of the professional impact of training in invasive procedures through simulation", included 20 quantitative and qualitative items. RESULTS: 48 (59 %) obstetricians-gynecologists responded to the questionnaire. 98 % of the participants considered that participation in the training had a significant impact on their professional practice. Half considered this impact to be major. 60 % of the former participants are now attached to a Multidisciplinary Center for Prenatal Diagnosis. CONCLUSION: Participation in training is considered by former participants to have a significant impact on their professional practice. In order to finalize the evaluation of this learning, a study of the benefits for patients and their pregnancy should be discussed.

Amniocentesis para estudio citogenético y sus principales indicaciones en La Habana, Cuba (2007 - 2016) / Amniocentesis for Cytogenetic Study and Its Main Indications in Havana, Cuba (2007 - 2016)

RESUMEN Introducción: El diagnóstico prenatal de alteraciones cromosómicas en Cuba se inició en La Habana en 1984, mediante análisis del líquido amniótico obtenido por amniocentesis en el segundo trimestre del embarazo. En 1987 se introdujo el diagnóstico por análisis de vellosidades coriónicas en el primer trimestre, como parte de un subprograma dentro del Programa Nacional de Diagnóstico y Prevención de Enfermedades Genéticas dirigido por el Centro Nacional de Genética Médica. Objetivo: Demostrar que la edad materna avanzada sigue siendo la principal indicación de estudio citogenético en las gestantes de alto riesgo en la provincia de La Habana. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte longitudinal que abarcó 12 909 historias clínicas de gestantes a las que se realizaron amniocentesis, indicadas en la consulta del Centro Provincial de Genética Médica de la Habana, en el período comprendido entre enero 2007 y diciembre 2016. Se analizaron diferentes parámetros relacionados con la cantidad de casos por años según diferentes criterios y se calculó la sensibilidad, especificidad, valor predictivo positivo y valor predictivo negativo de la edad materna como predictor de la ocurrencia de anomalías cromosómicas. Resultados: El principal criterio de indicación del estudio invasivo lo constituyó la edad materna avanzada con 82 por ciento de los casos, mostrando una sensibilidad de 86 por ciento y una tasa de falsos positivos que alcanzó el 95,85 por ciento. Sería de utilidad actualizar el subprograma de diagnóstico prenatal mediante herramientas que permitan recalcular el riesgo a priori, a un riesgo individualizado y reclasificar la población de alto riesgo genético. Conclusiones: A partir del estudio realizado se puede concluir que la avanzada edad materna constituye el principal criterio de indicación para estudio citogenético por amniocentesis en las gestantes de alto riesgo de La Habana(AU)

ABSTRACT Introduction: The prenatal diagnosis of chromosomal abnormalities in Cuba began in Havana in 1984, by analyzing the amniotic fluid by amniocentesis in the second trimester of pregnancy. In 1987, diagnosis by chorionic villus analysis was introduced in the first trimester, as part of a subprogram within the National Program for the Diagnosis and Prevention of Genetic Diseases led by the National Center for Medical Genetics. Objective: To validate that advanced maternal age continues to be the main feature to propose a cytogenetic study in high-risk pregnant women in the province of Havana. Methods: A descriptive, retrospective, longitudinal-section study was conducted in 12,909 medical records of pregnant women who underwent amniocentesis, proposed in the consultation of Havana Provincial Center for Medical Genetics, from January 2007 to December 2016. Different parameters related to the number of cases per year were analyzed according to different criteria and sensitivity, specificity, positive predictive value and negative predictive value of maternal age were calculated as a predictor of the occurrence of chromosomal abnormalities. Results: The main criterion for indicating this invasive study was the advanced maternal age in 82 percent of cases, showing 86 percent of sensitivity and 95.85 percent false positive rate. It would be useful to update the prenatal diagnosis subprogram using tools that allow the risk to be recalculated a priori to an individualized risk and to reclassify the population in high genetic risk. Conclusions: From this study it can be concluded that advanced maternal age constitutes the main criterion for indicating amniocentesis cytogenetic study in high-risk pregnant women in Havana(AU)

Do chorionic villus samplings (CVS) or amniocenteses (AC) induce RhD immunisation? An evaluation of a large Danish cohort with no routine administration of anti-D after invasive prenatal testing.

OBJECTIVE: To evaluate the risk of inducing RhD immunisation in pregnancies of RhD-negative mothers with an RhD-positive fetus undergoing chorionic villus samplings (CVS) or amniocenteses (AC). DESIGN, SETTING AND POPULATION: Registry-based study in a Danish cohort which has not been given rhesus prophylaxis. METHODS: Data were retrieved from the Department of Clinical Immunology at Rigshospitalet. All RhD-negative women carrying an RhD-positive fetus with screen test results from weeks 8-12 and weeks 25-29 were linked to data from the Danish Fetal Medicine Database. Data were divided into cases where no invasive prenatal diagnostic procedure was performed, cases that had AC performed, and cases that had CVS performed. MAIN OUTCOME MEASURES: A comparison of the proportion of women who developed RhD immunisation between the two screen tests. RESULTS: The cohort consisted of 10 085 women: 9353 had no invasive procedures performed, 189 had AC and 543 had CVS performed. No women were immunised spontaneously or due to the procedure between the first and second screen test in the group with no procedure performed, or in the AC group. One woman was immunised in the CVS group. When comparing the proportion of women who was immunised in the CVS group with the no invasive test group a non-significant difference was found (P = 0.055). CONCLUSION: The RhD immunisation rate before gestational weeks 25-29 in RhD-negative women carrying an RhD-positive fetus is very low, even in women undergoing prenatal invasive testing without rhesus prophylaxis. TWEETABLE ABSTRACT: The RhD immunisation rate during pregnancy is very low even in women undergoing prenatal invasive testing.

Risk of early-onset breast cancer among women exposed to thoracic computed tomography in pregnancy or early postpartum.

Essentials Tests for pulmonary embolism expose women to low-dose radiation. 5859 pregnancies had a thoracic computed tomography (T-CT) vs. 1.3 million who did not. The adjusted hazard ratio for breast cancer was 1.17 (95% confidence interval 0.80-1.70). The long-term risk of breast cancer among women who had a T-CT remains unknown. SUMMARY: Background The risk of breast cancer may be higher with direct exposure to ionizing radiation from thoracic computed tomography (CT) during pregnancy or the postpartum. We evaluated the short-term risk of maternal breast cancer after exposure to thoracic CT during these periods. Methods We completed a retrospective population-based cohort study of all deliveries between 1995 and 2014 using universal healthcare databases in the province of Ontario, Canada. The main exposure was thoracic CT in pregnancy or ≤ 42 days postpartum. The passive exposure was ventilation-perfusion scintigraphy (VQ) scan in pregnancy or ≤ 42 days postpartum. Each was compared to pregnancies unexposed to thoracic CT or VQ scan. The primary study outcome was newly diagnosed breast cancer starting 366 days post-index delivery date. Results A total of 5859 pregnancies were exposed to thoracic CT, 4075 to VQ scan and 1 292 059 to neither. Starting from 1 year after the index delivery, the median duration of follow-up was 5.9, 7.3 and 11.1 years, respectively. A total of 10 129 women were diagnosed with breast cancer, of whom 9039 (89.2%) were aged ≤ 50 years. There were 27 new cases of breast cancer (7.1 per 10 000 person-years) following thoracic CT vs. 10 080 (7.0 per 10 000 person-years) among the unexposed, an adjusted hazard ratio (HR) of 1.17 (95% confidence interval [CI], 0.80-1.70). Following VQ scan exposure, the incidence rate of breast cancer was 7.0 per 10 000 person-years, an adjusted HR of 1.23 (95% CI 0.81-1.87), compared with the unexposed cohort. Conclusion Exposure to thoracic CT during pregnancy or the postpartum was not associated with an increased short-term risk of maternal breast cancer. The long-term risk should be studied.

Management of suspected primary Toxoplasma gondii infection in pregnant women in Norway: twenty years of experience of amniocentesis in a low-prevalence population.

BACKGROUND: Primary infection with Toxoplasma gondii during pregnancy may pose a threat to the fetus. Women infected prior to conception are unlikely to transmit the parasite to the fetus. If maternal serology indicates a possible primary infection, amniocentesis for toxoplasma PCR analysis is performed and antiparasitic treatment given. However, discriminating between primary and latent infection is challenging and unnecessary amniocenteses may occur. Procedure-related fetal loss after amniocentesis is of concern. The aim of the present study was to determine whether amniocentesis is performed on the correct patients and whether the procedure is safe for this indication. METHODS: Retrospective study analysing data from all singleton pregnancies (n = 346) at Oslo University Hospital undergoing amniocentesis due to suspected maternal primary toxoplasma infection during 1993-2013. Maternal, neonatal and infant data were obtained from clinical hospital records, laboratory records and pregnancy charts. All serum samples were analysed at the Norwegian Institute of Public Health or at the Toxoplasma Reference Laboratory at Oslo University Hospital. The amniocenteses were performed at Oslo University Hospital by experienced personnel. Time of maternal infection was evaluated retrospectively based on serology results. RESULTS: 50% (173) of the women were infected before pregnancy, 23% (80) possibly in pregnancy and 27% (93) were certainly infected during pregnancy. Forty-nine (14%) women seroconverted, 42 (12%) had IgG antibody increase and 255 (74%) women had IgM positivity and low IgG avidity/high dye test titre. Fifteen offspring were infected with toxoplasma, one of them with negative PCR in the amniotic fluid. Median gestational age at amniocentesis was 16.7 gestational weeks (GWs) (Q1 = 15, Q3 = 22), with median sample volume 4 ml (Q1 = 3, Q3 = 7). Two miscarriages occurred 4 weeks after the procedure, both performed in GW 13. One of these had severe fetal toxoplasma infection. CONCLUSIONS: Half of our study population were infected before pregnancy. In order to reduce the unnecessary amniocenteses we advise confirmatory serology 3 weeks after a suspect result and suggest that the serology is interpreted by dedicated multidisciplinary staff. Amniocentesis is safe and useful as a diagnostic procedure in diagnosing congenital toxoplasma infection when performed after 15 GW.

Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between 1 December 2012 and 31 July 2015. Records of pregnancies positive for SCA were reviewed for ultrasound findings, NIPT indications, and karyotype results on maternal, fetal, and postnatal samples. Other SCA cases presenting during this period regardless of NIPT status were identified from genetic counseling and cytogenetics laboratory logbooks. RESULTS: Noninvasive prenatal testing predicted SCA in 18/2851 patients (0.63%). All had diagnostic testing of fetal or newborn samples. No patients terminated pregnancies on the basis of NIPT. NIPT suggested triple X in five cases, two with elevated NT: all were confirmed on karyotype. Two Klinefelter syndrome cases were also accurately predicted by NIPT. NIPT indicated monosomy X in 11 cases. Only one was a true positive. Ten were false positives, with 46, XX found on fetal or newborn karyotype. Maternal karyotype was mosaic (45, X[4], 46, XX[26]) in one case. Over the same time period, four additional cases of 45, X were confirmed on fetal samples, all with cystic hygromas. One of these had had a false negative NIPT result. The remaining patients pursued only direct testing via CVS or amniocentesis. CONCLUSIONS: Sex chromosome aneuploidy was frequently suspected on NIPT. False positive rate for monosomy X was surprisingly high (91%). Prediction of other SCA was more accurate. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. NIPT limitations should be explained in pretest counseling. © 2017 John Wiley & Sons, Ltd.

Chorionic Villus Sampling, Early Amniocentesis, and Termination of Pregnancy Without Diagnostic Testing: Comparison of Fetal Risk Following Positive Non-invasive Prenatal Testing.

BACKGROUND: With the increased accuracy of non-invasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) techniques, the likelihood of false-positive screening results has been reduced for high-risk populations. Following a positive screening test, a diagnostic procedure to confirm the result is strongly recommended, although some patients have terminated pregnancies because of a positive NIPT alone. Chorionic villus sampling (CVS), the diagnostic procedure of choice in the first trimester, is not available in all locations. Amniocentesis before 15 weeks, referred to as early amniocentesis (EA), is associated with a 1% rate of talipes and an increased rate of early pregnancy loss compared with CVS. Our objective was to compare the level of risk for euploid pregnancies following a positive NIPT based on the invasive procedure chosen. METHOD: Using data from a 2003 meta-analysis, we estimated the rates of adverse pregnancy outcome in euploid pregnancies based on the positive predictive value (PPV) of NIPT and the invasive procedure used-that is, CVS, EA, or termination of pregnancy (TOP). RESULTS: Following NIPT, we found that the rate of adverse fetal outcomes in euploid pregnancies was lower for CVS than for EA at all PPV levels. As the PPV of NIPT increased, the difference in risk between EA and CVS decreased. The risk to euploid pregnancies of TOP was excessive at all PPVs. CONCLUSION: CVS is the recommended diagnostic test in the first trimester because it is safer than EA for the fetus. However, EA is better than no testing when early TOP is planned. Patients should be strongly counselled against TOP without confirmatory testing.

[Adrenocortical carcinoma and pregnancy]. / Corticosurrénalome et grossesse.

Adrenocortical carcinoma is a rare cancer with a poor but heterogeneous prognosis. These tumours are more frequently encountered in women, sometimes very young and may be diagnosed in women in their child bearing years or already pregnant. Several clinical data have indicated that the secretion and or proliferation of adrenocortical tumors may be affected by the hormonal context of pregnancy. In this review, we will examine the link between ACC and pregnancy in two main aspects. We will first consider the situation of a pregnant woman with a clinical suspicion of adrenocortical carcinoma: which diagnostic procedures will be useful and safe for the foetus? What are the therapeutic options? What is the prognosis if the diagnosis is confirmed? In a second part, we will examine the possible risk of mothering a child in a patient previously treated for an ACC. The data shown here were obtained from studies carried out in a tertiary reference medical centre in Paris (Hôpital Cochin) and from the European Network for the Study of Adrenal Tumor (ENS@T) database of adrenocortical carcinoma.

Clinical indications and radiation doses to the conceptus associated with CT imaging in pregnancy: a retrospective study.

OBJECTIVE: To perform an internal audit at a university hospital with the aim of evaluating the number, clinical indication and operating procedure of computed tomography (CT) performed on pregnant patients and of estimating the radiation doses to the conceptus. METHODS: A retrospective review was conducted of all CT examinations performed in a single centre on pregnant patients between January 2008 and July 2013. The radiation doses to the conceptus were estimated. The results were compared with published data. RESULTS: The number of CT examinations during pregnancy increased from 3-4 per year in 2008-2011 to 11 per year in 2012. The mean estimated conceptus radiation dose was considered negligible for CT of the head and cervical spine, being less than 0.01 mGy, and for CT of the chest, less than 0.1 mGy. The estimated conceptus radiation dose from abdominopelvic CT was on average 28.7 mGy (range 6.7-60.5 mGy). CONCLUSIONS: The number of CT scans of pregnant patients increased threefold during the last few years. Most clinical indications and doses were in line with good clinical practice and literature; only in two cases the dose to the conceptus was higher than 50 mGy. KEY POINTS: • An increase in CT imaging of pregnant patients is of concern. • Clinical indications were in line with good practice. • Estimated conceptus doses were lower or similar to published data. • Internal guidelines for appropriate use of imaging during pregnancy should be established.

Emerging issues in invasive prenatal diagnosis: Safety and competency in the post-NIPT era.

BACKGROUND: Numbers of invasive prenatal procedures are declining in response to improved aneuploidy screening methods. OBJECTIVE: To assess current practice and attitudes of clinicians performing invasive prenatal diagnosis in regard to patient consent and safety, maintaining procedural competence and uptake of chromosomal microarrays (CMAs). METHODS: Anonymous online survey of the Australian Association of Obstetrical and Gynaecological Ultrasonologists conducted in March 2015. RESULTS: The survey had a 45% response rate with 59 respondents from Australia. Of these, 34 were subspecialists in maternal fetal medicine or obstetric and gynaecological ultrasound. Fifty-six (95%) currently performed amniocentesis or chorionic villus sampling. Of these, 14 (25%) performed <25 procedures and 8 (14%) performed >150 annually, with most respondents (60%) proposing 10-25 amniocenteses/year as adequate activity to maintain their skills. The majority neither expected referrers to provide results of hepatitis B and HIV serology, nor followed up missing results. There was uncertainty regarding the procedure-related vertical transmission risk of HBV in women with high viral load, with most respondents stating they were either unsure of the risk (22%) or that the risk was unknown (30%). Fifty per cent of practitioners routinely ordered CMA after invasive testing; all recommended CMA following a diagnosis of structural abnormality. CONCLUSIONS: In a period of declining testing, many Australian specialists are performing <25 procedures annually. Consideration of the potential risks of bloodborne viruses is limited. CMAs are rapidly being incorporated into clinical practice. These data have implications for patient consent and safety, and workforce training and practice.