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Objectives: To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner, to apply International Ovarian Tumor Analysis (IOTA) terminology after retrospective analysis of the images and to describe patient management and evolution of fetal cysts during pregnancy and after delivery. Methods: This retrospective observational study included pregnant women diagnosed on ultrasound examination with a fetal ovarian cyst at the Prenatal Diagnosis Division of the Bambino Gesù Children's Hospital, in Rome, between March 2011 and May 2020. Cysts were classified by the original ultrasound examiner as 'simple' (unilocular anechoic cyst) or 'complex' (cyst with other morphology). In addition, three ultrasound examiners, experienced in gynecologic ultrasound, classified retrospectively the fetal ovarian cysts according to IOTA terminology, by reviewing stored ultrasound images. The evolution of these fetal ovarian cysts during pregnancy and after birth was recorded. Results: Included were 51 ovarian cysts in 48 fetuses. Of the 51 cysts, 29 (56.9%) had been classified by the original ultrasound examiner as 'simple', and 22 (43.1%) as 'complex'. Of the simple cysts, the majority (20/29 (69.0%)) resolved spontaneously after delivery, 2/29 (6.9%) resolved following intrauterine aspiration, 2/29 (6.9%) resolved after postnatal aspiration and 5/29 (17.2%) underwent surgery due to persistence after delivery; in all five, normal ovarian parenchyma without signs of necrosis was observed at histology. Of the complex cysts, 7/22 (31.8%) resolved spontaneously. The other 15/22 (68.2%) were removed surgically and, at histology, necrosis was observed in most (12/15 (80.0%)), while a benign epithelial cyst with normal ovarian parenchyma was observed in 3/15 (20%). After reviewing the ultrasound images and applying IOTA terminology, all 51 (100%) fetal cysts were described as unilocular; 29/51 (56.9%) cysts showed anechoic content (described as simple cysts by the original ultrasound examiner), and 10/51 (19.6%) had low‐level, 1/51 (2.0%) had ground‐glass, 9/51 (17.6%) had hemorrhagic, 1/51 (2.0%) had mixed and 1/51 (2.0%) had undefined content (all described as complex by the original ultrasound examiner). Among the 29 anechoic ovarian cysts, resolution was observed in most (24/29, 82.8%) cases. Similarly, resolution was observed in 7/10 (70.0%) cysts with low‐level content. Resolution was not observed in any of the other 12 cysts and all of these cases underwent surgery, with evidence of necrosis being observed in 11 (91.7%). Conclusions: Applying IOTA terminology provided a more detailed and accurate description of fetal ovarian cysts compared with the original classification into 'simple' and 'complex' categories. Anechoic cysts (described as simple cysts by the original ultrasound examiner) and cysts with low‐level content (described as complex by the original ultrasound examiner) frequently resolved spontaneously. Cysts with ground‐glass, hemorrhagic, mixed or undefined content were frequently associated with necrosis at histology following surgery. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

This article, titled "EP09.38: Placental pathology in pregnancies complicated by right heart obstructive lesions," explores the characteristics of placentas in pregnancies with right heart obstructive congenital lesions (RHO) and their correlation with morphological and ultrasound anomalies. The study analyzed 112 fetal placentas affected by coronary heart disease (CHD) from March 2021 to October 2023. The results showed that RHO+ placentas displayed signs of vascular malperfusion (VM) on the fetal side, with higher avascular villi and fetal inflammatory infiltrate. The study suggests that further investigation is needed to understand the unique pathophysiology of RHO+ placentas. [Extracted from the article]

This article explores the relationship between placental malperfusion (PM) and congenital heart disease (CHD) in pregnancies. The study analyzed 95 fetal placentas affected by CHD and categorized placental pathology as maternal placental malperfusion (MPM), fetal placental malperfusion (FPM), and combined maternal-fetal placental malperfusion (MFPM). The results showed a higher prevalence of PM in patients with pathologies involving pulmonary overflow volume (OV) and transposition of great arteries (TGA). The study confirms an association between placental vascular anomalies and fetal CHD, but notes that the higher prevalence of PM in patients with OV may be influenced by comorbidities. [Extracted from the article]

Overall, we observed 5 (3%) cystic fibrosis, 10 (5%) other genetic disorders, 13 (7%) congenital infections, 5 (3%) neonatal deaths, 12 (7%) intestinal anomalies, 24 (13%) other malformations, and 19 (10%) experienced IUGR. Fetal and neonatal demise, intrauterine growth retardation (IUGR), associated anomalies, genetic disorders (including cystic fibrosis) and congenital infection were evaluated. When persistent HB were present, an increase rate of congenital infection and bowel dilatation were observed (14% versus 4%; p = 0,03 and 52% versus 23%; p = 0,0007, respectively). [Extracted from the article]

Deficient voluntary control of behaviour and impulsivity are key aspects of impulse control disorders. The objective of the present study was to evaluate the relationship between behavioural measures of impulsivity and the awareness of voluntary action. Seventy-four healthy volunteers completed the Barratt Impulsiveness Scale ( BIS), a questionnaire used to measure impulsive personality traits, and a go/no-go task. Moreover, all participants performed a behavioural task based on the Libet's clock paradigm in which they were requested to report the time of a self-initiated movement (M-judgement) or the time they first feel their intention to move (W-judgement). A positive relationship between the time in which subjects reported the intention to move (W-judgement) and impulsivity measures emerged. Namely, the higher was the score in the attentional and motor impulsivity subscales of the BIS and the number of inhibitory failure responses in the go/no-go task, the lower was the difference between the W-judgement and the actual movement (i.e. the awareness of intention to move was closer to the voluntary movement execution). In contrast, no relationship emerged with M-judgement. The present findings suggest that impulsivity is related to a delayed awareness of voluntary action. We hypothesize that in impulse control disorders, the short interval between conscious intention and actual movement may interfere with processes underlying the conscious 'veto' of the impending action. [ABSTRACT FROM AUTHOR]

Prenatal findings were present in 10/13 (77% patients) in Group A and in 2/8 (25%) patients in Group B (p 0.03). Thirteen patients were in group A (CC>3) and 8 in Group B CC < 3). [Extracted from the article]

It is reported that many infants with CDH have evidence of brain injury on postnatal brain magnetic resonance imaging (MRI). Results HT

To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner and according to IOTA terminology. Ovarian cysts with low level content could be managed expectantly, whereas ovarian cysts with other cyst content should be managed with postnatal surgery, due to the high risk of necrosis at final histology. [Extracted from the article]

An abstract of the article "Fetal thymus and steroid treatment: the effect of prenatal therapy on sonographic measurements" by L. Guariglia, S. Buongiorno, P. Ciliberti and others is presented.

Objective: To assess whether the incidence and aggressiveness of molar pregnancy (MP) and postmolar gestational trophoblastic neoplasia (GTN) changed during the COVID-19 pandemic., Design: Observational study with two separate designs: retrospective multicentre cohort of patients with MP/postmolar GTN and a cross-sectional analysis, with application of a questionnaire., Setting: Six Brazilian Reference Centres on gestational trophoblastic disease., Population: 2662 patients with MP/postmolar GTN treated from March-December/2015-2020 were retrospectively evaluated and 528 of these patients answered a questionnaire., Methods: Longitudinal retrospective multicentre study of patients diagnosed with MP/ postmolar GTN at presentation and a cross-sectional analysis, with application of a questionnaire, exclusive to patients treated during the period of study, to assess living and health conditions during the COVID-19 pandemic compared with previous years., Main Outcome Measures: The incidence of MP/postmolar GTN., Results: Compared with the last 5 pre-pandemic years, MP/postmolar GTN incidence remained stable during 2020 (COVID-19 pandemic). Multivariable logistic regression, adjusted for the patient age, showed that during 2020, presentation with MP was more likely to be >10 weeks of gestation (adjusted odds ratio [aOR] 2.50, 95% confidence interval [CI] 1.90-3.29, P < 0.001), have a pre-evacuation hCG level ≥100 000 iu/l (aOR 1.77, 95% CI 1.38-2.28, P < 0.001) and time to the initiation of chemotherapy ≥7 months (aOR 1.86, 95% CI 1.01-3.43, P = 0.047) when compared with 2015-2019., Conclusions: Although the incidence of MP/postmolar GTN remained stable during the COVID-19 pandemic in Brazil, the pandemic was associated with greater gestational age at MP diagnosis and more protracted delays in initiation of chemotherapy for postmolar GTN., (© 2022 John Wiley & Sons Ltd.)

Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%-30%) presenting a rare large-effect variant. However, clinical interpretation in these cases is often complicated by incomplete penetrance, variable expressivity and different neurodevelopmental trajectories. NRXN1 intragenic deletions represent the prototype of such ASD-associated susceptibility variants. From chromosomal microarrays analysis of 104 ASD individuals, we identified an inherited NRXN1 deletion in a trio family. We carried out whole-exome sequencing and deep sequencing of mitochondrial DNA (mtDNA) in this family, to evaluate the burden of rare variants which may contribute to the phenotypic outcome in NRXN1 deletion carriers. We identified an increased burden of exonic rare variants in the ASD child compared to the unaffected NRXN1 deletion-transmitting mother, which remains significant if we restrict the analysis to potentially deleterious rare variants only (P = 6.07 × 10 -5 ). We also detected significant interaction enrichment among genes with damaging variants in the proband, suggesting that additional rare variants in interacting genes collectively contribute to cross the liability threshold for ASD. Finally, the proband's mtDNA presented five low-level heteroplasmic mtDNA variants that were absent in the mother, and two maternally inherited variants with increased heteroplasmic load. This study underlines the importance of a comprehensive assessment of the genomic background in carriers of large-effect variants, as penetrance modulation by additional interacting rare variants to might represent a widespread mechanism in neurodevelopmental disorders., (© 2021 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.)