Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.

Microcephaly with simplified gyral pattern (MSG) is an intrinsic genetic central nervous system disorder, characterized by microcephaly (a reduction of brain volume) and a simplified gyral pattern (a reduced number of gyri and shallow sulci associated with normal cortical thickness and neuroanatomical architecture), related to a reduced number of neuronal progenitors in the germinal matrix. We report the first prenatal series of MSG and define the prenatal imaging pattern, which should inform diagnosis and guide prenatal counseling in cases of fetal microcephaly. In this single-center retrospective study of fetuses with MSG, we assessed features on ultrasound and magnetic resonance imaging (MRI), as well as genetic and neuropathological/postnatal data. We included eight patients who had been referred following observation of microcephaly. Ultrasound examination confirmed microcephaly, with a mean growth delay in head circumference of 3.4 weeks, associated with both a lack of gyration and a lack of opercularization of the Sylvian fissure and without any extracephalic anomaly. Fetal brain MRI confirmed lack of gyration with normal cortical thickness and normal intensity of the white matter in all cases. These MRI features led to exclusion of migration/corticogenesis disorders (lissencephaly/polymicrogyria), instead suggesting MSG. The posterior fossa was normal in seven of the eight cases. The corpus callosum was thin in four cases, hypoplastic in two and dysgenetic in two. In four cases, the pregnancy was terminated. The diagnosis of MSG was confirmed from neuropathological and postnatal MRI data. MSG was associated with a genetic diagnosis of RTTN (n = 1) and ASPM (n = 2) biallelic variants in three of the six cases in which genetic work-up was performed. Mild or moderate intellectual deficit with speech delay was present in the three surviving children who were at least 5 years of age at their last examination, without seizures. In conclusion, in the presence of isolated fetal microcephaly with lack of gyration on ultrasound, fetal cerebral MRI is key to diagnosing MSG, which, in the majority of cases, affects the supratentorial space exclusively, and to ruling out other cortical malformations that show a similar sonographic pattern. In addition to imaging, genetic assessment may guide prenatal counseling, since the prenatal prognosis of MSG is different from that of both diffuse polymicrogyria and lissencephaly. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Survey about the current use of fetal MRI in Spain.

In June 2019 in Seville, at the first course in fetal MRI, endorsed by the Spanish Society of Medical Radiology (SERAM) and the Spanish Society of Pediatric Radiology (SERPE), the Spanish fetal MRI group was founded. To establish this group, a questionnaire was designed for radiologists dedicated to prenatal imaging in Spain and disseminated to the SERAM's members. The questions were related to the type of hospital, to MRI studies (magnetic field, gestational age, use of sedation, number of studies per year, proportion of fetal neuroimaging studies), and to teaching and research about fetal MRI. A total of 41 responses were received from radiologists in 25 provinces (88% working in public hospitals). Very few radiologists in Spain perform prenatal ultrasonography (7%) or prenatal CT. MRI is done in the second trimester (34%) or in the third trimester (44%). In 95% of centers, fetal brain MRI studies predominate. In 41% of the centers, studies can be done on 3 T MRI scanners. Maternal sedation is used in 17% of centers. The number of fetal MRI studies per year varies widely, being much higher in Barcelona and Madrid than in the rest of Spain.

Survival in very preterm infants with congenital diaphragmatic hernia and association with prenatal imaging markers: A retrospective cohort study.

OBJECTIVES: To describe the outcomes of preterm born infants with congenital diaphragmatic hernia (CDH; ≤32.0 weeks of gestation) and the associations between prenatal imaging markers and survival. DESIGN: Retrospective cohort study. SETTING: Multicentre study in large referral centres. POPULATION: Infants with an isolated unilateral CDH, live born at 32.0 weeks or less of gestation, between January 2009 and January 2020. METHODS: Neonatal outcomes were evaluated for infants that were expectantly managed during pregnancy and infants that underwent fetoscopic endoluminal tracheal occlusion (FETO) therapy, separately. We evaluated the association between prenatal imaging markers and survival to discharge. Prenatal imaging markers included observed to expected lung-to-head ratio (o/e LHR), side of the defect, liver position, stomach position grade, and observed to expected total fetal lung volume (o/e TFLV). MAIN OUTCOME MEASURE: Survival to discharge. RESULTS: We included 53 infants born at 30+4 (interquartile range 29+1 -31+2 ) weeks. Survival in fetuses expectantly managed during pregnancy was 48% (13/27) in left-sided CDH and 33% (2/6) in right-sided CDH. Survival in fetuses that underwent FETO therapy was 50% (6/12) in left-sided CDH and 25% (2/8) in right-sided CDH. The o/e LHR at baseline was positively associated with survival in cases expectantly managed during pregnancy (odds ratio [OR] 1.20, 95% CI 1.07-1.42, p < 0.01), but not in cases that received FETO therapy (OR 1.01, 95% CI 0.88-1.15, p = 0.87). Stomach position grade (p = 0.03) and o/e TFLV were associated with survival (p = 0.02); liver position was not (p = 0.13). CONCLUSIONS: In infants with CDH born at or before 32 weeks of gestation, prenatal imaging markers of disease severity were associated with postnatal survival.

In utero torsion of an accessory hepatic lobe mimicking a congenital tumor.

Accessory hepatic lobes are rare anatomic variants connected to the liver by a fibrous stalk or parenchymal attachments. They are usually detected incidentally, but torsion is a rare complication. Here, we report torsion of an accessory hepatic lobe occurring in utero with a focus on the MRI findings. The lesion mimicked a congenital tumor, and we provide potential clues that may have narrowed the differential diagnosis prior to surgical exploration.

Prenatal radiographic evaluation of congenital transverse limb deficiencies: A scoping review.

BACKGROUND: Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%. They can occur alone or represent a manifestation of a various clinical syndromes. Diagnosis has traditionally comprised of conventional radiography and prenatal imaging studies. There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment. AIM: To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies. METHODS: This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly. Five search engines were searched for a total of 265 publications. Four authors reviewed these during the screening process. Of these, 51 studies were included in our article. Prenatal magnetic resonance imaging (MRI), 3D Ultrasound, and multidetector Computed tomography (CT) exist are emerging modalities that have the potential to improve diagnosis. RESULTS: Use of the appropriate classification system, three-dimensional ultrasonography with a maximum intensity projection, and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication. CONCLUSION: Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies.

Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features.

INTRODUCTION: Our objective was to evaluate the outcome of fetuses with first- and second-trimester fetal cytomegalovirus infection (CMVi) according to prenatal imaging patterns, especially fetuses presenting with mild imaging features (MF), being currently of uncertain prognosis. MATERIAL AND METHODS: In a retrospective study of 415 suspected CMVi cases, 59 cases were confirmed. Among prenatal imaging features, microcephaly, cortical disorder, and cerebellar hypoplasia as well as severe IUGR and fetal hydrops were considered as severe imaging features (SF). Other imaging features were considered as MF. Postnatal outcome was classified as "normal outcome," "mild sequelae" characterized mainly by sensorineural disorder (SND) and "severe sequelae" characterized by cognitive impairment. RESULTS: Only first-trimester (T1) and second-trimester (T2) CMVi cases were included in our study (n = 49) since all third-trimester cases (n = 10) had normal imaging and outcome. Sixteen fetuses had normal prenatal imaging and normal outcome, except one showing SND. Abnormal ultrasound findings were present in 33 fetuses, including SF noted in 16 fetuses, related exclusively to first-trimester CMVi. Termination of pregnancy was performed in 18 cases. Twelve first-trimester infected fetuses presented SF, whereas 6 fetuses (T1: n = 5, T2: n = 1) presented isolated MF. Four fetal deaths were encountered. Live-born babies with abnormal imaging included 10 fetuses with MF and one with SF. Among the 10 live babies with isolated MF, SND was encountered in 5 cases, whereas 5 children demonstrated normal outcome. Overall, 50% of our babies showing MF suffered from SND. No case of cognitive disorders was reported in babies showing only MF. CONCLUSION: SF were encountered only in first-trimester CMVi and should be distinguished from MF. Among our 10 live babies with prenatal MF following first- or second-trimester infection, 50% showed SND, whereas none presented severe sequelae. In 16 fetuses displaying normal fetal imaging, SND was encountered in one first-trimester case (6%).

Placental volume in pregnant women with opioid use: prenatal MRI assessment.

OBJECTIVE: Opioid use in pregnant women is a growing public health concern and is shown to be associated with lower infant birth weights. Placental volume changes in prior studies correlated with various maternal and fetal conditions. We aimed to identify differences between placental volumes in pregnant women with opioid use, and control pregnant women without drug use. METHODS: We prospectively recruited 27 healthy pregnant women and 17 pregnant women with opioid use disorder who were on medication-assisted treatment (MAT). All women underwent placenta/fetal MRI at 27-39 weeks gestation on a 3 Tesla MR scanner. Placental volumes were measured in a blinded fashion using a previously validated technique. Multiple linear regression was used to identify associations of placental volume with multiple maternal and fetal clinical factors. The significance threshold was set at p < .05. RESULTS: Placental volume was significantly associated with gestational age at MRI (p < .0001), fetal sex (p = .027), MAT with smoking (p = .0008), MAT with polysubstance use (p = .01), and maternal BMI (p = .032). Placental volume was not associated with opioid MAT alone in our cohort. CONCLUSION: For pregnant women on medication-assisted treatment for opioid use disorder, there was no significant difference in placental volume compared to healthy pregnant women. However, concomitant smoking and polysubstance use in the setting of medication-assisted treatment may be detrimental to placental health. To our knowledge, this is the first study assessing placental volume in opioid use on prenatal MRI. These results support the benefit of medication-assisted treatment during pregnancy; however additional studies are needed to further elucidate the impact of opioid use on placental and fetal development and postnatal outcomes.

The Course and Neonatal Outcome of Choroid Plexus Extension to the Anterior Horn at the Routine Anatomy Scan.

OBJECTIVES: Our objective was to examine the pregnancy course and immediate neonatal outcome of fetuses with an isolated extension of choroid plexus (CP) to the anterior horn during the second trimester. METHODS: We prospectively collected the cases referred to us between July 2012 and January 2021 with isolated finding of CP extension to the anterior horn. Relevant clinical and demographic information was recorded, and a full anatomy scan including a comprehensive neurosonogram was performed. In cases of confirmed isolated extension of CP to the anterior horns, women were offered further investigation including fetal MRI, and ultrasound follow up. RESULTS: We collected 29 eligible cases for analysis. The mean gestational age (GA ± SD) for diagnosis and referral was 19.24 ± 2.3 weeks. No other intracranial anomalies were detected in any of the cases, and the finding resolved at 25 ± 2.6 weeks. The average extension length and width to the anterior horn were 0.7 ± 0.3 cm, and 0.5 ± 0.1 cm, respectively. Eleven fetuses (38%) had choroid plexus cyst (CPC) in addition to the extension. Ten patients (35%) completed a fetal brain MRI, with no identified abnormalities. Gross neurological exam and Apgar score at birth were normal. CONCLUSION: Extension of CP to anterior horn with or without CPC at mid-trimester seems to have spontaneous resolution with likely a good prognosis and no further implications.

Fetal neurosonography and infant neurobehavior following conception by assisted reproductive technology with fresh or frozen embryo transfer.

OBJECTIVE: We aimed to explore fetal cortical brain development by neurosonography in fetuses conceived by assisted reproductive technology (ART), including frozen and fresh embryo transfer (ET), compared with those conceived spontaneously (SC), and to investigate its association with infant neurobehavior at 12 months of age. METHODS: This was a prospective cohort study of 210 singleton pregnancies, including 70 SC pregnancies, 70 conceived by in-vitro fertilization (IVF) following frozen ET and 70 conceived by IVF after fresh ET. Fetal neurosonography was performed at 32 ± 2 gestational weeks to assess cortical development. Sulci depths were measured offline and normalized by biparietal diameter (BPD). Ages and Stages Questionnaires (ASQ) were completed postnatally, at 12 ± 1 months of corrected age. Neurosonographic findings were adjusted by regression analysis for maternal age, ethnicity, parity, fetal sex and fetal-weight centile and gestational age at scan, and ASQ scores were adjusted for maternal age, ethnicity, parity, educational level and employment status, gestational age at birth, breastfeeding, infant sex and infant age at the ASQ evaluation. RESULTS: Overall, in comparison to the SC fetuses, fetuses conceived by ART showed statistically significant differences in cortical development, with reduced parieto-occipital sulci depth adjusted for BPD (mean ± SD: fresh ET, 12.5 ± 2.5 vs frozen ET, 13.4 ± 2.6 vs SC, 13.4 ± 2.6, P < 0.001), cingulate sulci depth adjusted for BPD (median (interquartile range (IQR)): fresh ET, 5.8 (4.2-7.4) vs frozen ET, 5.8 (4.1-7.5) vs SC, 6.5 (4.8-7.8), P = 0.001) and calcarine sulci depth adjusted for BPD (median (IQR): fresh ET, 13.5 (10.1-16.1) vs frozen ET, 14.5 (12.1-15.8) vs SC, 16.4 (14.3-17.9), P < 0.001), together with lower Sylvian fissure grading score. Changes in cortical development were more pronounced in the fresh ET than in the frozen ET group. ART infants showed lower ASQ scores as compared to SC infants, particularly in the fresh ET group (mean ± SD global ASQ Z-score: fresh ET, -0.3 ± 0.4 vs frozen ET, -0.2 ± 0.4 vs SC, 0 ± 0.4, P < 0.001). CONCLUSIONS: Fetuses conceived by ART show a distinctive pattern of cortical development and suboptimal infant neurodevelopment, with more pronounced changes in those conceived following fresh ET. These findings support the existence of in-utero brain reorganization associated with ART and warrant follow-up studies to assess its long-term persistence. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Case report and literature review: antenatal diagnosis of a fetal anaplastic astrocytoma.

OBJECTIVES: To describe the ultrasonographic appearance of congenital anaplastic astrocytoma, so as to provide diagnostic clues for it. An updated review of the literature was also carried out. RESULTS: There was a case of fetal anaplastic astrocytoma detected by ultrasound at 37 + 1 weeks of gestation. It showed that a hypoechoic mass was located in the left hemisphere with a relatively clear margin and subtle color flows. Prenatal magnetic resonance imaging (MRI) which was taken subsequently confirmed the result of ultrasound. Intratumoral hemorrhage was observed in later follow-up and further confirmed by histological examination. The fetus was delivered vaginally at 39 + 6 weeks. The infant died 2 h after delivery due to respiration failure. The histological examination confirmed an anaplastic astrocytoma. CONCLUSIONS: Congenital anaplastic astrocytoma commonly detected by ultrasound has a relatively better perinatal prognosis, especially compared with glioblastoma. Prenatal ultrasonography diagnosis accurately is of critical importance. The anaplastic astrocytoma should be considered in cases in which fetal images reveal a heterogeneous echogenic mass in the brain, especially in the presence of intratumoral hemorrhage, subtle color flow, and relatively clear margin.

Fetal Brain Tumors, a Challenge in Prenatal Diagnosis, Counselling, and Therapy.

Fetal brain tumors are a rare entity with an overall guarded prognosis. About 10% of congenital brain tumors are diagnosed during fetal life. They differ from the postnatally encountered pediatric brain tumors with respect to location and tumor type. Fetal brain tumors can be benign or malignant and infiltrate or displace adjacent brain structures. Due to their high mitotic rate, they can show rapid growth. Outcome depends on age of diagnosis, size, and histological tumor type. Findings like polyhydramnios and macrocephaly encountered on routine ultrasound are frequently associated. Detailed prenatal anomaly scan and subsequent fetal magnetic resonance imaging (MRI) may identify the brain tumor and its severity. Both maternal and fetal prognosis should be included in prenatal counselling and decision making.

Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center.

OBJECTIVE: This retrospective study aimed to systematically evaluate the genetic disorders, cytomegalovirus (CMV) infection, extra ultrasound findings and outcomes of fetuses with bilateral ventriculomegaly (BVM). METHODS: Data from pregnancies with fetal BVM were obtained between 2014 and 2020. The cases were divided into groups of isolated bilateral ventriculomegaly (IBVM) and non-isolated bilateral ventriculomegaly (NIBVM) according to the presence of extra prenatal imaging. Subgroups of mild, moderate, and severe were determined according to lateral ventricle widths. The NIBVM group was further classified into pregnancies with soft markers, non-structural abnormalities, and structural abnormalities. RESULTS: A total of 353 pregnancies were enrolled, including 153 cases of IBVM and 200 cases of NIBVM. Conventional karyotyping was performed on 192 samples, and 15 cases of numerical abnormalities and 3 cases of unbalanced structural abnormalities were identified. Chromosomal microarray analysis (CMA) was concurrently performed on 108 of them and revealed additional 5 cases (4.7%) of copy number variants with clinical significance. CMV DNA testing was performed on 154 of the 192 cases that underwent invasive prenatal diagnosis, and a positive result was found in 2 (1.3%) cases. In the IBVM group, the percentage of favorable prognosis in the mild, moderate and severe pregnancies were 94.4%, 79.2%, and 4.8%, respectively, and the termination of pregnancy (TOP) rates were 4.6%, 20.8%, and 85.7%, respectively. In both the mild and moderate NIBVM, the TOP rates progressively increased and the favorable prognosis survival rates progressively decreased relative to the soft markers, non-structural abnormalities, and structural abnormalities, respectively. Approximately 94.1% of severe NIBVM ended in termination. CONCLUSION: Genetic disorders and fetal infection are important etiology of BVM. CMA is highly recommended for genetic disorders' evaluation. Pregnancies with severe BVM always ended in TOP, while in mild-to-moderate NIBVM, prenatal imaging by ultrasound and/or MRI plays important roles in the pregnancy outcomes.

Risk factor analysis and outcomes of airway management in antenatally diagnosed cervical masses.

PURPOSE: To investigate antenatally-determined imaging characteristics associated with invasive airway management at birth in patients with cervical masses, as well as to describe postnatal management and outcomes. STUDY DESIGN: A retrospective analysis of 52 patients with antenatally diagnosed neck masses was performed using single-center data from January 2008 to January 2019. Antenatal imaging, method of delivery, management, and outcomes data were abstracted from the medical record and analyzed. RESULTS: Antenatal diagnosis of neck masses in this cohort consisted of 41 lymphatic malformations (78.8%), 6 teratomas (11.5%), 3 hemangiomas (5.8%), 1 hemangioendothelioma (1.9%), and 1 giant foregut duplication cyst (1.9%). Mean gestational age at time of diagnostic imaging was 29 weeks 3 days (range: 19w4d - 37w). Overall, 22 patients (42.3%) required invasive airway management at birth, specifically 18 patients (34.6%) required endotracheal intubation and 4 (7.7%) required tracheostomy. 15 patients (28.8%) underwent ex-utero intrapartum treatment (EXIT) for the purposes of securing an airway. Polyhydramnios, tracheal deviation and compression, and anterior mass location on antenatal imaging were significantly associated with incidence of invasive airway intervention at birth, EXIT procedure, and tracheostomy during the neonatal hospitalization (p < 0.025; Fisher's exact test). Logistic regression analysis demonstrated statistically significant association between increasing antenatally-estimated mass volume and incidence of invasive airway management at birth (p = 0.02). Post-natal cervical mass management involved surgical excision (32.7%), sclerotherapy (50%), and adjuvant therapy with rapamycin (17.3%). Demise in the neonatal period occurred in 4 (7.7%) patients. CONCLUSION: This series documents the largest single-center experience of airway management in antenatally diagnosed cervical masses. Fetal imaging characteristics may help inform the appropriate method of delivery, airway management strategy at birth, and prenatal counseling.

Craniopagus twin: pre- and post-natal 3-dimensional virtual and physical models and virtual navigation created with free or open source software-an option for low-resource centers.

BACKGROUND: Craniopagus twins represent a rare and complex congenital malformation characterized by conjoined twins fused at the cranium. Craniopagus is challenging for patients' families and surgeons, and accurate confirmation of the extent of cranial fusion is a complex process. Most information regarding the surgical anatomy of this rare condition is obtained through analysis of ultrasonographic, magnetic resonance, or computed tomographic images. A multidisciplinary team plays a key role in obtaining such information and in parental counseling and coordination of various complex processes for optimal postnatal care of these twins. The extent of fusion is usually determined based on conventional clinical methods, such as imaging studies. METHODS: Imaging software is being used in recent times to create three-dimensional reconstruction images and for virtual navigation to investigate the skulls and brains of craniopagus twins. However, the acquisition and maintenance costs of such sophisticated medical software may be unaffordable for medical centers in developing countries. To overcome this limitation, we investigated the role of open or free source software for accurate determination of complex malformations of the skull and brain of craniopagus twins.

Survey about the current use of fetal MRI in Spain. / Encuesta sobre la situación actual de la resonancia magnética fetal en España.

In June 2019 in Seville, at the first course in fetal MRI, endorsed by the Spanish Society of Medical Radiology (SERAM) and the Spanish Society of Pediatric Radiology (SERPE), the Spanish fetal MRI group was founded. To establish this group, a questionnaire was designed for radiologists dedicated to prenatal imaging in Spain and disseminated to the SERAM's members. The questions were related to the type of hospital, to MRI studies (magnetic field, gestational age, use of sedation, number of studies per year, proportion of fetal neuroimaging studies), and to teaching and research about fetal MRI. A total of 41 responses were received from radiologists in 25 provinces (88% working in public hospitals). Very few radiologists in Spain perform prenatal ultrasonography (7%) or prenatal CT. MRI is done in the second trimester (34%) or in the third trimester (44%). In 95% of centers, fetal brain MRI studies predominate. In 41% of the centers, studies can be done on 3 T MRI scanners. Maternal sedation is used in 17% of centers. The number of fetal MRI studies per year varies widely, being much higher in Barcelona and Madrid than in the rest of Spain.

The Role of Fetal MRI for Suspected Anomalies of the Posterior Fossa.

BACKGROUND: Posterior fossa anomalies can be diagnostic dilemmas during the fetal period. The prognosis for different diagnoses of the posterior fossa varies widely. We investigated whether fetal magnetic resonance imaging (MRI) and prenatal neurology consultation led to an alternate prognosis for fetuses referred due to concern for a fetal posterior fossa anomaly and concordance between pre- and postnatal diagnoses. METHODS: This is a retrospective study of cases referred to the Prenatal Pediatrics Institute at Children's National Hospital from January 2012 to June 2018 due to concern for posterior fossa anomaly. Each encounter was scored for change in prognosis based upon clinical and fetal MRI report. Postnatal imaging was compared with prenatal imaging when available. RESULTS: In total, 180 cases were referred for fetal posterior fossa anomalies based on outside obstetric ultrasound and had both fetal MRI and a neurology consultation. Fetal MRI and neurology consultation resulted in a change in fetal prognosis in 70% of cases. The most common referral diagnosis in our cohort was Dandy-Walker continuum, but it was not often confirmed by fetal MRI. In complex cases, posterior fossa diagnosis and prognosis determined by fetal MRI impacted choices regarding pregnancy management. Postnatal imaging was obtained in 57 (47%) live-born infants. Fetal and postnatal prognoses were similar in 60%. CONCLUSIONS: Fetal diagnosis affects pregnancy management decisions. The fetal-postnatal imaging agreement of 60% highlights the conundrum of balancing the timing of fetal MRI to provide the most accurate diagnosis of the posterior fossa abnormalities in time to make pregnancy management decisions.

IVF with or without ICSI and the impact on human embryonic brain development: the Rotterdam Periconceptional Cohort.

STUDY QUESTION: Does IVF with or without ICSI (IVF/ICSI) treatment impact the development of embryonic brain structures? SUMMARY ANSWER: Our results show associations between IVF/ICSI treatment, smoking and slightly increased sizes of early human embryonic brain structures. WHAT IS KNOWN ALREADY: The number of IVF/ICSI procedures is increasing worldwide and is associated with higher risks of obstetric and perinatal complications in pregnancies. STUDY DESIGN, SIZE, DURATION: One hundred seventy-five women with a singleton pregnancy were included in the Rotterdam Periconceptional Cohort (Predict study). PARTICIPANTS/MATERIALS, SETTING, METHODS: Self-reported questionnaires, verified by a research assistant at enrollment, provided information on periconceptional maternal characteristics and mode of conception. Three-dimensional ultrasound (3D-US) examinations were performed at 9 and 11 weeks of gestational age (GA). Diencephalon total diameter (DTD), mesencephalon total diameter (MTD) and telencephalon thickness on the left and right site (TTL/TTR) were measured offline in standardized planes using 4D View software. Linear regression models with adjustment for GA, maternal age, body mass index, moment of initiation of folic acid supplement use and smoking were used to study associations between mode of conception and embryonic brain measurements at 9 and 11 weeks of GA. MAIN RESULTS AND ROLE OF CHANCE: A total of 276 3D-US scans of 166 participants, of which 50 conceived through IVF/ICSI, were included for embryonic brain measurements. Success rates of the DTD and MTD measurements were between 67% and 73% and of the TTL/TTR between 52% and 57%. In the fully adjusted model, we found that at 11 weeks of GA, the MTD (ß = 0.264, 95% CI = 0.101; 0.427, P < 0.01) and TTR (ß = 0.075, 95% CI = 0.001; 0.149, P < 0.05) sizes were larger in IVF/ICSI pregnancies. In addition, smoking also resulted in larger TTL measurements at 11 weeks of GA (ß = 0.095, 95% CI= 0.005; 0.186, P < 0.05). LIMITATIONS, REASONS FOR CAUTION: The implications of these small deviations on brain functioning need further investigation. WIDER IMPLICATIONS OF THE FINDINGS: Enlargement of attention for prenatal brain development and postnatal neurodevelopmental outcome after IVF/ICSI treatment. STUDY FUNDING/COMPETING INTERESTS: This study was funded by the Department of Obstetrics and Gynecology, Erasmus MC, and Sophia research foundation for Medical Research, Rotterdam, the Netherlands (SSWO grant number 644). No competing interests are declared. TRIAL REGISTRATION NUMBER: N/A.

Two different prenatal imaging cerebral patterns of tubulinopathy.

To illustrate the prenatal cerebral imaging features associated with tubulinopathy, we report on five affected fetuses from unrelated families, with a de-novo heterozygous variant in a tubulin gene (TUBA1A, TUBB2B or TUBB3). We identified two distinct prenatal imaging patterns related to tubulinopathy: a severe form, characterized by enlarged germinal matrices, microlissencephaly and a kinked brainstem; and a mild form which has not been reported previously in the prenatal literature. The latter form is associated with non-specific features, including an asymmetric brainstem, corpus callosal dysgenesis, a lack of Sylvian fissure operculization and distortion of the anterior part of the interhemispheric fissure with subsequent impacted medial borders of the frontal lobes, the combination of which, in the absence of additional extracerebral anomalies, is highly suggestive of tubulinopathy. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.

It Is Complex: Predicting Gastroschisis Outcomes Using Prenatal Imaging.

BACKGROUND: Gastroschisis occurs in one of 2000 births with survival rates partially contingent on intestinal complications and time to establishing feeding. Enhancements in prenatal imaging have given better insight into postnatal outcomes. The goal of this study was to examine the gastroschisis patient population at a single children's hospital in the modern era and to use prenatal ultrasound (US) to develop new prenatal prognostic indicators. METHODS: We performed a retrospective review of gastroschisis patients at a quaternary-care referral children's hospital from 2010 through 2018. We recorded demographics, prenatal data and imaging, early postnatal data, operative data, and patient outcomes. We compared patients within our cohort born with complex gastroschisis (bowel atresia/perforation) to uncomplicated gastroschisis patients. Second trimester and third trimester prenatal US were evaluated for changes in amniotic fluid level, amount of external bowel, bowel dilatation, and bowel wall edema to identify prognostic indicators of the status of the bowel at birth. For categorical variables, chi-square tests were used to assess for significance. Univariate and multivariable analyses were used to assess significance between categorical and continuous variables using medians and interquartile ranges or means. RESULTS: A total of 134 patients were included in the study: complex (n = 24), uncomplicated (n = 110). Compared with uncomplicated gastroschisis, complex patients required longer median days to feeding initiation (44 versus 10; P < 0.001), full feeding (80 versus 23; P < 0.001), length of stay (83 versus 33; P < 0.001), and total parenteral nutrition at discharge (P = 0.004). Full US data were available on 81% of patients, and partial data were identified on 19%. Prenatal US analysis showed significantly more complex patients had polyhydramnios on third trimester US (23.5%-4.3%; P = 0.018). US analysis showed these additional factors to be most associated with complex gastroschisis: large amount of external bowel on third trimester US, increase in bowel edema on third trimester US, and increase in external bowel dilation on third trimester US. Multivariable logistic regression analyses revealed amniotic fluid on third trimester US to be the most significant predictor of complex gastroschisis (P = 0.01). Polyhydramnios in combination with two-thirds of the other US factors had both sensitivity and positive predictive value for predicting complex gastroschisis of 75%. Patients with two or less of these positive US factors had high specificity (96.8%) and negative predictive value (87.5%), suggesting uncomplicated disease. There were no differences in perioperative or long-term complications in the complex group when compared with the group with uncomplicated gastroschisis. CONCLUSIONS: Polyhydramnios on third trimester prenatal US on babies with gastroschisis can predict complex gastroschisis at birth, whereas the absence of markers on prenatal US can suggest uncomplicated disease. Complex gastroschisis is associated with increased time to feeds and length of stay.