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1.
Isr Med Assoc J ; 26(4): 236-239, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38616669

RESUMO

BACKGROUND: The cavum septi pellucidi (CSP) is a brain-enclosed cavity located on the midline between the two leaflets of the septum pellucidum that separates the lateral ventricles. This structure develops in the fetus from week 18 and can be seen up to week 37 in almost all cases and then begins to disappear. OBJECTIVES: To measure and determine the normative values of the CSP volume in fetuses between 20 to 40 weeks of gestation. METHODS: The study comprised 161 consecutive pregnant women between 20 to 40 weeks of gestation with single viable fetuses. All patients had normal, disease-free pregnancies. Transvaginal or transabdominal ultrasound was used according to the fetal presentation. The fetal head was assessed in mid-sagittal sections. Once the CSP was visualized, its volume was measured using three-dimensional ultrasound with Virtual Organ Computer-aided Analysis software. The width of the CSP was also measured at the biparietal diameter (BPD) plane. RESULTS: Of the 161 fetuses, the CSP volume was measured in 158. In three patients the CSP was not identified. The CSP volume correlated poorly with gestational age (r=0.229) and with the BPD (r=0.295). The mean CSP volume was 0.508 ± 0.372 ml (range: 0.03-1.78 ml). The simple measurement of the CSP width correlated better with gestational age (r=0.535) and the BPD (r=0.484). CONCLUSIONS: The CSP volume had a poor correlation with gestational age; however, the volume did not exceed 2 ml regardless of gestational age. This information can be used to assess pathologies involving the CSP.


Assuntos
Feto , Septo Pelúcido , Humanos , Feminino , Gravidez , Septo Pelúcido/diagnóstico por imagem , Idade Gestacional , Encéfalo
2.
Anat Histol Embryol ; 53(3): e13041, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38629204

RESUMO

This study aimed to describe the gestational and morphological aspects of the fetuses and their respective umbilical cords from two pregnant wild boars (Sus scrofa). Morphological descriptions were provided for 23 fetuses and the gestational ages were estimated through fetal characteristics and formula application. The specimens were fixed in 10% formalin for subsequent macroscopic and microscopic examination. Histological characterization was performed using haematoxylin-eosin (H&E), Masson's trichrome (MT) and Verhöeff's staining techniques. The wild boar fetuses exhibited an estimated gestational age of 55 days (in the larger uterus) and 45 days (in the smaller uterus). They displayed well-developed features consistent with domestic pig fetuses, except for the presence of five pairs of mammae. Additionally, the umbilical cord consisted of two arteries, one vein, an allantoic duct, and a vitelline duct (the latter two identified only microscopically), located in the juxtafetal, intermediate and juxtaplacental portions. The arteries and veins were comprised of endothelium, smooth muscle and collagen fibres, with no elastic fibres observed in the vessel walls. The allantoic duct was lined with simple cuboidal epithelium, while the vitelline duct featured a simple squamous epithelium. In conclusion, the morphological characteristics observed in the examined structures align with the expected patterns for species of the Suidae family. Furthermore, these findings contribute substantially to the morphological characterization of the wild boar, yielding valuable insights into the fetal morphology and the structure of the umbilical cord.


Assuntos
Feto , Cordão Umbilical , Gravidez , Feminino , Animais , Suínos , Cordão Umbilical/anatomia & histologia , Alantoide/anatomia & histologia , Idade Gestacional , Sus scrofa , Artérias Umbilicais
3.
Int J Mol Sci ; 25(7)2024 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-38612738

RESUMO

Changes in the components, variety, metabolism, and products of microbiomes, particularly of the gut microbiome (GM), have been revealed to be closely associated with the onset and progression of numerous human illnesses, including hematological neoplasms. Among the latter pathologies, there is acute lymphoblastic leukemia (ALL), the most widespread malignant neoplasm in pediatric subjects. Accordingly, ALL cases present a typical dysfunctional GM during all its clinical stages and resulting inflammation, which contributes to its progression, altered response to therapy, and possible relapses. Children with ALL have GM with characteristic variations in composition, variety, and functions, and such alterations may influence and predict the complications and prognosis of ALL after chemotherapy treatment or stem cell hematopoietic transplants. In addition, growing evidence also reports the ability of GM to influence the formation, growth, and roles of the newborn's hematopoietic system through the process of developmental programming during fetal life as well as its susceptibility to the onset of onco-hematological pathologies, namely ALL. Here, we suggest some therapeutic strategies that can be applied at two levels of intervention to recover the microbiome and consequently prevent/delay ALL or arrest its progression.


Assuntos
Microbioma Gastrointestinal , Neoplasias Hematológicas , Microbiota , Leucemia-Linfoma Linfoblástico de Células Precursoras , Recém-Nascido , Humanos , Criança , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Feto
4.
Sci Rep ; 14(1): 8500, 2024 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-38605102

RESUMO

Intrauterine growth restriction (IUGR) occurs both in humans and domestic species. It has a particularly high incidence in pigs, and is a leading cause of neonatal morbidity and mortality as well as impaired postnatal growth. A key feature of IUGR is impaired muscle development, resulting in decreased meat quality. Understanding the developmental origins of IUGR, particularly at the molecular level, is important for developing effective strategies to mitigate its economic impact on the pig industry and animal welfare. The aim of this study was to characterise transcriptional profiles in the muscle of growth restricted pig foetuses at different gestational days (GD; gestational length ~ 115 days), focusing on selected genes (related to development, tissue injury and metabolism) that were previously identified as dysregulated in muscle of GD90 fetuses. Muscle samples were collected from the lightest foetus (L) and the sex-matched foetus with weight closest to the litter average (AW) from each of 22 Landrace x Large White litters corresponding to GD45 (n = 6), GD60 (n = 8) or GD90 (n = 8), followed by analyses, using RT-PCR and protein immunohistochemistry, of selected gene targets. Expression of the developmental genes, MYOD, RET and ACTN3 were markedly lower, whereas MSTN expression was higher, in the muscle of L relative to AW littermates beginning on GD45. Levels of all tissue injury-associated transcripts analysed (F5, PLG, KNG1, SELL, CCL16) were increased in L muscle on GD60 and, most prominently, on GD90. Among genes involved in metabolic regulation, KLB was expressed at higher levels in L than AW littermates beginning on GD60, whereas both IGFBP1 and AHSG were higher in L littermates on GD90 but only in males. Furthermore, the expression of genes specifically involved in lipid, hexose sugar or iron metabolism increased or, in the case of UCP3, decreased in L littermates on GD60 (UCP3, APOB, ALDOB) or GD90 (PNPLA3, TF), albeit in the case of ALDOB this only involved females. In conclusion, marked dysregulation of genes with critical roles in development in L foetuses can be observed from GD45, whereas for a majority of transcripts associated with tissue injury and metabolism differences between L and AW foetuses were apparent by GD60 or only at GD90, thus identifying different developmental windows for different types of adaptive responses to IUGR in the muscle of porcine foetuses.


Assuntos
Retardo do Crescimento Fetal , Músculo Esquelético , Humanos , Masculino , Feminino , Suínos , Animais , Retardo do Crescimento Fetal/genética , Retardo do Crescimento Fetal/metabolismo , Músculo Esquelético/metabolismo , Peso Fetal/fisiologia , Feto/metabolismo , Carne , Actinina
5.
BMC Pregnancy Childbirth ; 24(1): 263, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38605299

RESUMO

BACKGROUND: Children exposed prenatally to alcohol or cannabinoids individually can exhibit growth deficits and increased risk for adverse birth outcomes. However, these drugs are often co-consumed and their combined effects on early brain development are virtually unknown. The blood vessels of the fetal brain emerge and mature during the neurogenic period to support nutritional needs of the rapidly growing brain, and teratogenic exposure during this gestational window may therefore impair fetal cerebrovascular development. STUDY DESIGN: To determine whether prenatal polysubstance exposure confers additional risk for impaired fetal-directed blood flow, we performed high resolution in vivo ultrasound imaging in C57Bl/6J pregnant mice. After pregnancy confirmation, dams were randomly assigned to one of four groups: drug-free control, alcohol-exposed, cannabinoid-exposed or alcohol-and-cannabinoid-exposed. Drug exposure occurred daily between Gestational Days 12-15, equivalent to the transition between the first and second trimesters in humans. Dams first received an intraperitoneal injection of either cannabinoid agonist CP-55,940 (750 µg/kg) or volume-equivalent vehicle. Then, dams were placed in vapor chambers for 30 min of inhalation of either ethanol or room air. Dams underwent ultrasound imaging on three days of pregnancy: Gestational Day 11 (pre-exposure), Gestational Day 13.5 (peri-exposure) and Gestational Day 16 (post-exposure). RESULTS: All drug exposures decreased fetal cranial blood flow 24-hours after the final exposure episode, though combined alcohol and cannabinoid co-exposure reduced internal carotid artery blood flow relative to all other exposures. Umbilical artery metrics were not affected by drug exposure, indicating a specific vulnerability of fetal cranial circulation. Cannabinoid exposure significantly reduced cerebroplacental ratios, mirroring prior findings in cannabis-exposed human fetuses. Post-exposure cerebroplacental ratios significantly predicted subsequent perinatal mortality (p = 0.019, area under the curve, 0.772; sensitivity, 81%; specificity, 85.70%) and retroactively diagnosed prior drug exposure (p = 0.005; AUC, 0.861; sensitivity, 86.40%; specificity, 66.7%). CONCLUSIONS: Fetal cerebrovasculature is significantly impaired by exposure to alcohol or cannabinoids, and co-exposure confers additional risk for adverse birth outcomes. Considering the rising potency and global availability of cannabis products, there is an imperative for research to explore translational models of prenatal drug exposure, including polysubstance models, to inform appropriate strategies for treatment and care in pregnancies affected by drug exposure.


Assuntos
Canabinoides , Morte Perinatal , Gravidez , Camundongos , Feminino , Animais , Criança , Humanos , Canabinoides/efeitos adversos , Mortalidade Perinatal , Etanol/efeitos adversos , Feto/irrigação sanguínea , Modelos Animais de Doenças , Circulação Cerebrovascular
6.
BMC Pregnancy Childbirth ; 24(1): 265, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38605314

RESUMO

BACKGROUND: Prenatal bonding describes the emotional connection expectant parents form to their unborn child. Research acknowledges the association between antenatal imaging and enhanced bonding, but the influencing factors are not well understood, particularly for fathers or when using advanced techniques like fetal magnetic resonance imaging (MRI). This study aimed to identify variables which may predict increased bonding after imaging. METHODS: First-time expectant parents (mothers = 58, fathers = 18) completed a two-part questionnaire (QualtricsXM™) about their expectations and experiences of ultrasound (n = 64) or fetal MRI (n = 12) scans in uncomplicated pregnancies. A modified version of the Prenatal Attachment Inventory (PAI) was used to measure bonding. Qualitative data were collected through open-ended questions. Multivariate linear regression models were used to identify significant parent and imaging predictors for bonding. Qualitative content analysis of free-text responses was conducted to further understand the predictors' influences. RESULTS: Bonding scores were significantly increased after imaging for mothers and fathers (p < 0.05). MRI-parents reported significantly higher bonding than ultrasound-parents (p = 0.02). In the first regression model of parent factors (adjusted R2 = 0.17, F = 2.88, p < 0.01), employment status (ß = -0.38, p < 0.05) was a significant predictor for bonding post-imaging. The second model of imaging factors (adjusted R2 = 0.19, F = 3.85, p < 0.01) showed imaging modality (ß = -0.53), imaging experience (ß = 0.42) and parental excitement after the scan (ß = 0.29) were significantly (p < 0.05) associated with increased bonding. Seventeen coded themes were generated from the qualitative content analysis, describing how scans offered reassurance about fetal wellbeing and the opportunity to connect with the baby through quality interactions with imaging professionals. A positive scan experience helped parents to feel excited about parenthood. Fetal MRI was considered a superior modality to ultrasound. CONCLUSIONS: Antenatal imaging provides reassurance of fetal development which affirms parents' emotional investment in the pregnancy and supports the growing connection. Imaging professionals are uniquely positioned to provide parent-centred experiences which may enhance parental excitement and facilitate bonding.


Assuntos
Mães , Pais , Lactente , Humanos , Feminino , Gravidez , Mães/psicologia , Pais/psicologia , Cuidado Pré-Natal , Emoções , Feto
7.
Georgian Med News ; (347): 113-116, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38609125

RESUMO

Children born with structural or functional defects were reported as congenital anomalies. The rate of these deficits has increasingly been reported globally with upregulated trends for unknown specific reasons. Congenital anomalies are reported as a clinical challenge for clinical settings due to handling, transportation, daycare, and staff requirements. The present study aimed to characterize such types of congenital anomalies in Tikrit governorate (Iraq). A total of 180 file records of newborn babies were allocated for those babies who have been admitted to the hospital after birth due to their requirement for help as a consequence of their diagnosis of congenital anomalies. These anomalies were counted and placed together for potential comparisons and determination of the highest percentage of them. The most common area for anomalies was the central nervous system (40%) followed by the musculoskeletal (22%), gastrointestinal system (16%), and heart (11%). The lowest proportion of congenital anomalies were those of the eye, face, ear (7%), and Skin (7%). Characterization of the frequency of anomalies and allocation of their causative factors are important to take further steps forward for the specification of the diseases and required treatments.


Assuntos
Feto , Hospitais de Ensino , Lactente , Criança , Recém-Nascido , Feminino , Gravidez , Humanos , Prevalência , Cuidado Pré-Natal , Pacientes
8.
BMC Pregnancy Childbirth ; 24(1): 274, 2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38609883

RESUMO

OBJECTIVE: To compare the outcomes of termination of pregnancy with live fetuses in the second trimester (14-28 weeks), using misoprostol 400 mcg intravaginal every 6 h, between women with previous cesarean section (PCS) and no previous cesarean section (no PCS). METHODS: A comparative study was conducted on a prospective database of pregnancy termination in the second trimester, Chiang Mai university hospital. Inclusion criteria included: (1) singleton pregnancy; (2) gestational age between 14 and 28 weeks; and (3) pregnancy with a live fetus and medically indicated for termination. The participants were categorized into two groups; PCS and no PCS group. All were terminated using misoprostol 400 mcg intravaginal every 6 h. The main outcomes were induction to fetal delivery interval and success rate, defined as fetal delivery within 48 h. RESULTS: A total of 238 women, including 80 PCS and 158 no PCS, were recruited. The success rate of fetal delivery within 48 h between both groups was not significantly different (91.3% vs. 93.0%; p-value 0.622). The induction to fetal delivery interval were not significantly different (1531 vs. 1279 min; p-value > 0.05). Gestational age was an independent factor for the success rate and required dosage of misoprostol. The rates of most adverse effects of misoprostol were similar. One case (1.3%) in the PCS group developed uterine rupture during termination, ending up with safe and successful surgical removal and uterine repair. CONCLUSION: Intravaginal misoprostol is highly effective for second trimester termination of pregnancy with PCS and those with no PCS, with similar success rate and induction to fetal delivery interval. Gestational age was an independent factor for the success rate and required dosage of misoprostol. Uterine rupture could occur in 1.3% of PCS, implying that high precaution must be taken for early detection and proper management. SYNOPSIS: Intravaginal misoprostol is highly effective for termination of second trimester pregnancy with a live fetus, with a comparable success rate between women with and without previous cesarean section, with a 1.3% risk of uterine rupture among women with previous cesarean section.


Assuntos
Misoprostol , Ruptura Uterina , Gravidez , Feminino , Humanos , Lactente , Segundo Trimestre da Gravidez , Misoprostol/efeitos adversos , Cesárea , Ruptura Uterina/induzido quimicamente , Ruptura Uterina/epidemiologia , Feto
9.
Medicine (Baltimore) ; 103(15): e37691, 2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38608109

RESUMO

To describe the epidemiology of congenital malformations of the external ear (CMEE). Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016 to 2020. The prevalence of CMEEs is defined as the number of cases per 1000 fetuses (births and deaths at 28 weeks of gestation and beyond) (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. P < .05 was considered statistically significant. Crude odds ratios (ORs) were calculated to examine the association of sex, residence, and maternal age with CMEEs. Our study included 847,755 fetuses, and 14,459 birth defects were identified, including 1227 CMEEs (accounted for 8.49% of birth defects). The prevalences of birth defects and CMEEs were 17.06‰ (95%CI: 16.78-17.33) and 1.45‰ (95%CI: 1.37-1.53), respectively. A total of 185 microtia-anotias were identified, accounting for 15.08% of CMEEs, with a prevalence of 0.22‰ (95%CI: 0.19-0.25). And 1042 other CMEEs were identified, accounting for 84.92% of CMEEs. From 2016 to 2020, the prevalences of birth defects were 18.20‰, 18.00‰, 16.31‰, 16.03‰, and 16.47‰, respectively, showing a downward trend (χ2trend =8.45, P < .01); the prevalences of CMEEs were 1.19‰, 1.62‰, 1.80‰, 1.21‰, and 1.35‰, respectively, with no significant trend (χ2trend =0.09, P = .77). CMEEs were more common in males than females (1.60‰ vs 1.27‰, OR = 1.26, 95%CI: 1.12-1.41), in urban areas than in rural areas (1.77‰ vs 1.23‰, OR = 1.45, 95%CI: 1.29-1.62). The prevalences of CMEEs for maternal age < 20, 20-24, 25-29, 30-34, and ≥ 35 were 1.75‰, 1.27‰, 1.44‰, 1.47‰, and 1.58‰, respectively, with no significant difference (P > .05, reference: 25-29). Most CMEEs were diagnosed by clinical examinations (92.34%), and most CMEEs were diagnosed postpartum (within 7 days) (96.25%). In summary, we have presented the epidemiology of CMEEs in Hunan Province, China. CMEEs were more common in males than females, in urban areas than rural areas, whereas there was no significant difference in prevalence of CMEEs by maternal age. We inferred that CMEEs may be mainly related to genetics, and the mechanism needs to be examined in the future.


Assuntos
Microtia Congênita , Feminino , Masculino , Humanos , China/epidemiologia , Orelha Externa , Feto , Idade Materna
10.
Sci Data ; 11(1): 383, 2024 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-38615064

RESUMO

The rete ovarii (RO) is an epithelial structure that arises during development in close proximity to the ovary and persists throughout adulthood. However, the functional significance of the RO remains elusive, and it is absent from recent discussions of female reproductive anatomy. The RO comprises three regions: the intraovarian rete within the ovary, the extraovarian rete in the periovarian tissue, and the connecting rete linking the two. We hypothesize that the RO plays a pivotal role in ovarian homeostasis and responses to physiological changes. To begin to uncover the nature and function of RO cells, we conducted transcriptomic profiling of the RO. This study presents three datasets, and reports our analysis and quality control approaches for bulk, single-cell, and nucleus-level transcriptomics of the fetal and adult RO tissues using the Pax8-rtTA; Tre-H2B-GFP mouse line, where all RO regions express nuclear GFP. The integration and rigorous validation of these datasets will advance our understanding of the RO's roles in ovarian development, female maturation, and adult female fertility.


Assuntos
Ovário , Transcriptoma , Animais , Feminino , Camundongos , Feto , Perfilação da Expressão Gênica , Ovário/embriologia , Ovário/crescimento & desenvolvimento
11.
Immun Inflamm Dis ; 12(4): e1254, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38639563

RESUMO

INTRODUCTION: Human leukocyte antigen-G (HLA-G) is a non-classical class I HLA molecule shown to regulate the immunomodulation of maternal immune cells to prevent fetal tissue destruction. Low levels of freely circulating maternal soluble HLA-G (sHLA-G) have been observed in pre-eclampsia, however, no pooled evidence exists. This meta-analysis aimed to generate pooled findings on the association of sHLA-G levels with pre-eclampsia and is the first study to perform a trimester-wise comparison of the levels of sHLA-G in preeclamptic cases and normal pregnant controls. METHODS: The databases PubMed, Emba, Web of Science, and Google Scholar through May 31, 2023. Preeclamptic women were defined as cases and normal pregnancies as controls. Data on the level of sHLA-G in cases and controls was extracted and subjected to a meta-analysis using a random-effects model. The pooled effect was expressed in terms of standardized mean difference (SMD). Sensitivity analysis was performed to investigate the effect of the exclusion of each study on the pooled results. Publication bias was assessed statistically. RESULTS: Nine studies with altogether 567 PE cases and 1132 normal pregnancy controls were included in the meta-analysis. The first and third trimester levels of sHLA-G in PE cases were significantly lower than that of normal pregnant controls: (SMD: -0.84 [-1.29; -0.38]; p = .003; I2 = 54%) and (SMD: -0.39 [-0.71; -0.06]; p = .02; I2 = 79%) respectively. Sensitivity analysis revealed significant fluctuations in the pooled findings when few studies were excluded, raising questions on the consistency of results among studies. CONCLUSION: Although we found that first and third-trimester sHLA-G levels in pre-eclampsia are significantly lower, taking into consideration the inconsistent results from the sensitivity analysis, our findings advocate the demand for more studies with larger sample sizes to generate solid ground pooled evidence on the predictive role of sHLA-G in pre-eclampsia.


Assuntos
Pré-Eclâmpsia , Gravidez , Humanos , Feminino , Antígenos HLA-G , Feto , Biomarcadores
12.
BMC Med Inform Decis Mak ; 24(1): 102, 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38641580

RESUMO

The main cause of fetal death, of infant morbidity or mortality during childhood years is attributed to congenital anomalies. They can be detected through a fetal morphology scan. An experienced sonographer (with more than 2000 performed scans) has the detection rate of congenital anomalies around 52%. The rates go down in the case of a junior sonographer, that has the detection rate of 32.5%. One viable solution to improve these performances is to use Artificial Intelligence. The first step in a fetal morphology scan is represented by the differentiation process between the view planes of the fetus, followed by a segmentation of the internal organs in each view plane. This study presents an Artificial Intelligence empowered decision support system that can label anatomical organs using a merger between deep learning and clustering techniques, followed by an organ segmentation with YOLO8. Our framework was tested on a fetal morphology image dataset that regards the fetal abdomen. The experimental results show that the system can correctly label the view plane and the corresponding organs on real-time ultrasound movies.Trial registrationThe study is registered under the name "Pattern recognition and Anomaly Detection in fetal morphology using Deep Learning and Statistical Learning (PARADISE)", project number 101PCE/2022, project code PN-III-P4-PCE-2021-0057. Trial registration: ClinicalTrials.gov, unique identifying number NCT05738954, date of registration 02.11.2023.


Assuntos
Aprendizado Profundo , Humanos , Inteligência Artificial , Feto/diagnóstico por imagem
13.
Genome Biol ; 25(1): 104, 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38641842

RESUMO

Single-cell sequencing datasets are key in biology and medicine for unraveling insights into heterogeneous cell populations with unprecedented resolution. Here, we construct a single-cell multi-omics map of human tissues through in-depth characterizations of datasets from five single-cell omics, spatial transcriptomics, and two bulk omics across 125 healthy adult and fetal tissues. We construct its complement web-based platform, the Single Cell Atlas (SCA, www.singlecellatlas.org ), to enable vast interactive data exploration of deep multi-omics signatures across human fetal and adult tissues. The atlas resources and database queries aspire to serve as a one-stop, comprehensive, and time-effective resource for various omics studies.


Assuntos
Ascomicetos , Multiômica , Adulto , Humanos , Bases de Dados Factuais , Feto , Perfilação da Expressão Gênica
14.
Sci Rep ; 14(1): 8411, 2024 04 10.
Artigo em Inglês | MEDLINE | ID: mdl-38600369

RESUMO

The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King Abdulaziz Medical City (KAMC), Riyadh. All fetuses diagnosed by prenatal ultrasound with PFA from 2017 to 2021 in KAMC were analyzed retrospectively. PFA included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC), and isolated vermian hypoplasia (VH). The 65 cases of PFA were 41.5% DWM, 46.2% MCM, 10.8% VH, and 1.5% BPC. The annual incidence rates were 2.48, 2.64, 4.41, 8.75, and 1.71 per 1000 anatomy scans for 2017, 2018, 2019, 2020, and 2021, respectively. Infants with DWM appeared to have a higher proportion of associated central nervous system (CNS) abnormalities (70.4% vs. 39.5%; p-value = 0.014) and seizures than others (45% vs. 17.9%; p-value = 0.041). Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene. Our result showed that the most common PFA is DWM and MCM. The autosomal recessive pathogenic mutation is the major cause of genetic disease in Saudi patients diagnosed with PFA.


Assuntos
Síndrome de Dandy-Walker , Malformações do Sistema Nervoso , Gravidez , Feminino , Recém-Nascido , Humanos , Estudos Retrospectivos , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/epidemiologia , Síndrome de Dandy-Walker/genética , Diagnóstico Pré-Natal , Feto/patologia , Ultrassonografia Pré-Natal , Imageamento por Ressonância Magnética
15.
Elife ; 122024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38602745

RESUMO

Human fetal development has been associated with brain health at later stages. It is unknown whether growth in utero, as indexed by birth weight (BW), relates consistently to lifespan brain characteristics and changes, and to what extent these influences are of a genetic or environmental nature. Here we show remarkably stable and lifelong positive associations between BW and cortical surface area and volume across and within developmental, aging and lifespan longitudinal samples (N = 5794, 4-82 y of age, w/386 monozygotic twins, followed for up to 8.3 y w/12,088 brain MRIs). In contrast, no consistent effect of BW on brain changes was observed. Partly environmental effects were indicated by analysis of twin BW discordance. In conclusion, the influence of prenatal growth on cortical topography is stable and reliable through the lifespan. This early-life factor appears to influence the brain by association of brain reserve, rather than brain maintenance. Thus, fetal influences appear omnipresent in the spacetime of the human brain throughout the human lifespan. Optimizing fetal growth may increase brain reserve for life, also in aging.


Assuntos
Feto , Longevidade , Feminino , Gravidez , Humanos , Encéfalo/diagnóstico por imagem , Envelhecimento , Peso ao Nascer
17.
J Matern Fetal Neonatal Med ; 37(1): 2326302, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38442990

RESUMO

OBJECTIVES: Sonographic evaluation of the basilar artery is challenging, and a limited number of reports are available about the prenatal period, as manual positioning of probes is technically difficult. The objective of this study was to describe a sonographic transabdominal approach based on slowflow HD for screening of the basilar artery during the second trimester scan. METHODS: A total of 49 women who were enrolled in a second trimester screening were included when the fetus was in the occipitoanterior position. Dopper screening of the cerebral artery was performed, which revealed the "Y" sign indicating the basilar trunk arising from two vertebral arteries in the axial oblique view when the probe was located around the junction of the vertebral processes and occipital bone and was superior to the first vertebral body, sloping slightly to the cephalic side. The Doppler ultrasound probe was placed perpendicular to the basilar artery. The flow direction was below the baseline, away from the probe in the basilar artery, consistent with a caudocephalic orientation. Peak systolic and diastolic velocities were measured. RESULTS: The basilar artery was identified in all 49 fetuses, with a mean gestational age of 22 weeks (range 20 to 26 weeks). The mean peak systolic velocity of the basilar artery was 15.8 cm/second (range 9.12-26.44 cm/second). There was a slight increase in peak systolic velocity according to the gestational age of the fetus. CONCLUSIONS: This study demonstrated that evaluation of the basilar artery can be performed during the second trimester via a new transabdominal approach involving slowflow HD.


Assuntos
Angiografia , Artéria Basilar , Humanos , Gravidez , Feminino , Lactente , Segundo Trimestre da Gravidez , Artéria Basilar/diagnóstico por imagem , Diástole , Feto
18.
Orphanet J Rare Dis ; 19(1): 100, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38444029

RESUMO

OBJECTIVE: Poor fetal and perinatal outcomes in fetuses associated with umbilical artery thrombosis (UAT), such as severe intrauterine growth restriction (IUGR) and intrauterine asphyxia have been reported by some case series. Its hemodynamic impact remains unclear. The aim of this study was to evaluate the hemodynamic changes and perinatal outcome in UAT fetuses with a relatively large sample. METHODS: We included singleton fetuses diagnosed with UAT and with at least one available Doppler evaluation before the end of pregnancy in our center from 2016 to 2023. Fetuses with structural abnormalities and with no follow-up results were excluded. Doppler waveforms from the Umbilical artery (UA), middle cerebral artery (MCA), ductus venosus (DV) and uterine artery (UtA) were routinely evaluated according to ISUOG Practice Guidelines from diagnosis. The same sample of GA-matched normal fetuses with Doppler measurements during the same period were randomly selected as control group. RESULTS: Eighty-nine singleton fetuses with UAT with at least one Doppler evaluation before the end of pregnancy were identified, 13 fetuses with no follow-up results were excluded. After comprehensive prenatal counseling, 14 cases received urgent cesarean section, the remaining 55 cases received expectant management, the median day between GA at diagnosis and end of pregnancy was 13 (5-53) days (range, 2-159). 7 (7/76, 9.2%) cases occurred stillbirth, and the incidence of IUGR and Neonatal Intensive Care Unit (NICU) admission were 18.4% (14/76) and 13.2% (10/76) respectively. 49 fetuses (49/76, 64.5%) combined with Doppler abnormalities. UA abnormalities (35/76, 46.1%) and MCA abnormalities (34/76, 44.7%) were the most changes at presentation. Compared to control group, UA-EDV was significantly increased in UAT fetuses [21.84 (15.59-26.64) vs. 16.40 (12.43-20.70) cm/s, p < 0.001], UA-PI and UA-RI significantly decreased [0.68 (0.57-0.84) vs. 0.92 (0.79-1.11), p<0.001; 0.51 (0.44-0.59) vs. 0.62 (0.55-0.68), p < 0.001, respectively]. Both the MCA-PSV and MCA-EDV were significantly higher in UAT fetuses [54.60 (48.00-61.34) vs. 44.47 (29.66-57.60) cm/s, p < 0.001; 11.19 (7.84-17.60) vs. 8.22 (5.21-12.00) cm/s, p < 0.001, respectively], this led to a lower MCA-PI and MCA-RI. Meanwhile, DV-PIV was significantly higher in UAT fetuses [0.6 (0.47-0.87) vs. 0.45 (0.37-0.55), p < 0.001], CPR and UtA-PI were no significant difference between these two groups. Multivariate logistic regression analysis showed that DV-PIV was an independent risk factor for adverse pregnancy outcomes (OR 161.922, p<0.001), the area under the ROC curve (AUC) was 0.792 (95% CI 0.668-0.917; p < 0.001). CONCLUSION: Our data showed serious adverse pregnancy consequences are combined with UAT fetuses. Hemodynamic changes in UAT fetuses showed the remaining artery for compensation and brain perfusion derangement. With a comprehensive and standardized Doppler evaluation, progression of fetal deterioration may be detailed presented.


Assuntos
Trombose , Artérias Umbilicais , Recém-Nascido , Gravidez , Humanos , Feminino , Artérias Umbilicais/diagnóstico por imagem , Estudos Retrospectivos , Cesárea , Feto , Retardo do Crescimento Fetal
19.
Reprod Domest Anim ; 59(3): e14541, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38426354

RESUMO

Dystocia typically presents a life-threatening condition for both the mare and the foal. This prospective long-term study aimed to ascertain whether mares with prior pregnancy disorders or a history of dystocia were at a higher risk of experiencing subsequent dystocia in comparison to those without such medical antecedents. To achieve this goal, the authors analysed 207 parturitions and 164 mares over a 10-year period. Of these, 57 were associated with pregnancy disorders or prior dystocia (Group 1), while 150 parturitions followed uneventful pregnancies in mares that had not yet experienced dystocia (Group 2). Mares in Group 1 were significantly more likely to develop dystocia than those in Group 2 (p = .0180; odds ratio = 2.98). Foetal causes of dystocia were more prevalent than maternal causes (p < .0389). Maternal mortality stood at 0.5%, and neonatal mortality reached 1.9%. The results demonstrate that mares are at significantly higher risk of developing dystocia after experiencing pregnancy disorders or parturition complications during previous pregnancies, emphasizing the need for systematic birth monitoring.


Assuntos
Distocia , Doenças dos Cavalos , Gravidez , Animais , Cavalos , Feminino , Estudos Prospectivos , Distocia/epidemiologia , Distocia/veterinária , Feto , Doenças dos Cavalos/epidemiologia
20.
Medicine (Baltimore) ; 103(10): e37345, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38457559

RESUMO

RATIONALE: Because of the normal phenotype, carriers of specific chromosomal translocations are often diagnosed only after their development of associated malignancies, recurrent miscarriages, and reproductive difficulties. In this paper, we report primary balanced fetal chromosomal translocations by performing the necessary invasive prenatal diagnosis in couples with previous malformations coupled with prenatal testing suggesting a high risk for trisomy 21. PATIENT CONCERNS: Case 1 and Case 2 couples had malformed children, and Case 3 couples had a high risk of trisomy 21 on noninvasive preconception serological testing. DIAGNOSIS AND INTERVENTION: A balanced chromosomal translocation diagnosis was confirmed by karyotyping of fetal cells obtained by amniocentesis. OUTCOMES: All 3 couples decided to continue their pregnancies after learning about the consequences of the chromosomal abnormalities. Approximately a year after the children were born, the staff of the Prenatal Diagnostic Center followed up with a phone call and found that the children physical development and intelligence were normal. LESSON: This case report reports healthy chromosomal balanced translocation newborns born to couples with poor maternal history and couples with abnormalities suggested by preconception testing, and followed up with the newborns to provide some experience in prenatal diagnosis and genetic counseling for chromosomal balanced translocations.


Assuntos
Anormalidades Múltiplas , Transtornos Cromossômicos , Síndrome de Down , Gravidez , Feminino , Criança , Recém-Nascido , Humanos , Translocação Genética , Síndrome de Down/diagnóstico , Aberrações Cromossômicas , Transtornos Cromossômicos/genética , Diagnóstico Pré-Natal , Feto , Anormalidades Múltiplas/genética , Cromossomos
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