Search

Summary This case describes a mare with fungal placentitis of a novel aetiology with megaallantoic and megaamniotic vesicles in a late gestation pregnancy and subsequent fetal death. Management of the case revealed decreased fetal movement apparently due to the vesicles' large size. Pathological investigation of the fetal membranes and fetus showed severe fungal placentitis by Curvularia and Bipolaris spp., both saprophytic fungi never previously described in literature as aetiologic agents of placentitis in mares. Full consequence of the vesicles' relation to the placentitis and involvement in fetal death have yet to be determined or completely understood. [ABSTRACT FROM AUTHOR]

To investigate whether assisted reproductive technology (ART) affects gross fetal movement. A prospective cohort study. 65 women who conceived with ART (ART group) and 211 women (control group) without ART recorded fetal movement with the fetal movement acceleration measurement recorder at night weekly after 28 weeks. The number ratio of 10 s epochs with fetal movement to all epochs was calculated as the fetal movement parameter. When no fetal movement was observed for more than 5 min, it was defined as a no fetal movement period, and the average number per hour, the average duration, and the longest duration of the no fetal movement periods were calculated as the no fetal movement parameters. Gestational weeks were classified into 28–33 and 34–39 weeks, and the fetal movement parameter and the no fetal movement parameters were compared using the Student's t-test. The fetal movement parameters at 28–33 weeks were 17.43% (ART) and 16.58% (control) (p = 0.219), and those at 34–39 weeks were 11.72% (ART) and 11.96% (control) (p = 0.590). In the same way, for the no fetal movement parameters, the average numbers were 1.58 and 1.63 per hour (p = 0.357), and 2.36 and 2.30 per hour (p = 0.503). The average durations were 8.30 and 8.46 min (p = 0.712), and 9.20 and 9.51 min (p = 0.188). The longest durations were 16.26 and 17.02 min (p = 0.295), and 22.34 and 22.87 min (p = 0.534). ART does not affect gross fetal movement count. [ABSTRACT FROM AUTHOR]

Biallelic pathogenic variants in TARS2 lead to combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb hypertonia, psychomotor developmental delay, epilepsy and brain anomalies. To date, approximately 28 individuals with COXPD21 and 28 TARS2 variants have been identified. In this study, we reported additional four individuals from three unrelated Chinese families with mitochondrial encephalomyopathy caused by pathogenic variants in TARS2, and described the novel clinical phenotypes and genotypic information. In addition to two novel variants (c.512G > A, p.Arg171Lys; c.988dup, p.Arg330Lysfs*4), one previously reported variant (c.470 C > G, p.Thr157Arg) recurred in six Chinese individuals with COXPD21 but was not present in populations of other races. Our findings expanded the mutation spectrum of TARS2 and confirmed that c.470 C > G is a Chinese-specific founder mutation. The novel phenotypes, including reduced fetal movement, eye anomalies and sleep irregularities, observed in our patients enriched the clinical characteristics of COXPD21. [ABSTRACT FROM AUTHOR]

Pregnancy monitoring is always essential for pregnant women and fetuses. According to the report of WHO (World Health Organization), there were an estimated 287,000 maternal deaths worldwide in 2020. Regular hospital check-ups, although well established, are a burden for pregnant women because of frequent travelling or hospitalization. Therefore, home-based, long-term, non-invasive health monitoring is one of the hot research areas. In recent years, with the development of wearable sensors and related data-processing technologies, pregnancy monitoring has become increasingly convenient. This article presents a review on recent research in wearable sensors, physiological data processing, and artificial intelligence (AI) for pregnancy monitoring. The wearable sensors mainly focus on physiological signals such as electrocardiogram (ECG), uterine contraction (UC), fetal movement (FM), and multimodal pregnancy-monitoring systems. The data processing involves data transmission, pre-processing, and application of threshold-based and AI-based algorithms. AI proves to be a powerful tool in early detection, smart diagnosis, and lifelong well-being in pregnancy monitoring. In this review, some improvements are proposed for future health monitoring of pregnant women. The rollout of smart wearables and the introduction of AI have shown remarkable potential in pregnancy monitoring despite some challenges in accuracy, data privacy, and user compliance. [ABSTRACT FROM AUTHOR]

To determine a possible correlation between SARS-CoV-2 infection during pregnancy and altered fetal behavior. Kurjak's antenatal neurodevelopmental test (KANET) was applied from 28 to 40 weeks in 38 gestations (group A) diagnosed with COVID-19 infection during the first week and 43 non-COVID pregnant women (group B). No statistically significant differences considering maternal age (33±3.9 years for group A vs. 31±4.1 years for group B) and gestational age (33±1.6 weeks for group A compared to 33±2.1 weeks for group B) were observed. KANET scores were not different between the two groups. Fetal behavior differences are not altered in women diagnosed with SARS-CoV-2 infection during the third trimester of pregnancy. [ABSTRACT FROM AUTHOR]

Objective Materials and Methods Results Conclusion(s) This study aimed to evaluate the costs and consequences of a new midwife‐navigator‐facilitated care pathway for reduced fetal movements.This study was conducted at a tertiary obstetric centre in Queensland, Australia and modelling occurred for this and smaller services. Two months of data from pre (n = 112 in 2019) and post (n = 141 in 2020) implementation of the care pathway were analysed with T‐tests and logistic regression models to evaluate maternal and neonatal outcomes. A Markov model was built to estimate the costs and consequences of the intervention. Sensitivity analysis was conducted to test various scenarios including modelling for smaller centres.There were no statistically significant differences in clinical outcome between the intervention and usual care groups. Intervention patients spent one hour and eight minutes less time in hospital (P < 0.001). This resulted in a saving to the centre of AU$135 per patient (AU$159 083 annually). One‐way sensitivity analysis suggested that cost savings would be found in all scenarios except for smaller units providing services for less than 1900 births per annum.To our knowledge, no other care pathway involving acute obstetric care has been economically evaluated to date. Our model based on real‐world presentations for reduced fetal movements confirms that midwife‐navigators may be an economically beneficial implementation strategy for dealing with common obstetric conditions. [ABSTRACT FROM AUTHOR]

The purpose of this research is to explore the biomechanical consequences of maternal injuries on fetal movements. Additionally, the research aims to comprehend the relationship between these injuries and fetal movement within the amniotic sac and to understand the extent to which the amniotic fluid can provide protection during severe injuries. The focus is on the potential impact these injuries could have on surgical procedures and preventative strategies. Using advanced computational simulations, the study investigates how various maternal injuries can influence the behavior of amniotic fluid and the subsequent stress exerted on fetal development. The findings suggest that maternal injuries can induce stress, primarily affecting the posterior regions of the fetus and the umbilical cord, depending on the boundary and initial conditions. This stress is associated with fetal displacement within the amniotic sac. While the amniotic fluid provides a certain level of protection, its limitations become apparent during severe injuries. These insights have implications for the field of surgery, particularly fetal procedures. They underscore the need for improved protective measures and the development of personalized obstetric and neonatal care strategies. Moreover, the study highlights the potential of computational simulations in aiding surgeons. These simulations can provide a more accurate understanding of the critical areas to focus on during surgical procedures, thereby enhancing the precision and safety of these operations. [ABSTRACT FROM AUTHOR]

Clinical fetal monitoring devices can only be operated by medical professionals and are overly costly, prone to detrimental false positives, and emit radiation. Thus, highly accurate, easily accessible, simplified, and cost-effective fetal monitoring devices have gained an enormous interest in obstetrics. In this study, a cost-effective and user-friendly wearable home fetal movement and distress detection device is developed and assessed for early-stage design progression by facilitating continuous, comfortable, and non-invasive monitoring of the fetus during the final trimester. The functionality of the developed prototype is mainly based on a microcontroller, a single accelerometer, and a specialized fetal phonocardiography (fPCG) acquisition board with a low-cost microphone. The developed system is capable of identifying fetal movement and monitors fetal heart rhythm owing to its considerable sensitivity. Further, the device includes a Global System for Mobile Communication (GSM)-based alert system for instant distress notifications to the mother, proxy, and emergency services. By incorporating digital signal processing, the system achieves zero false negatives in detecting fetal movements, which was validated against an open-source database. The acquired results clearly substantiated the efficacy of the fPCG acquisition board and alarm system, ensuring the prompt identification of fetal distress. [ABSTRACT FROM AUTHOR]

Purpose: Fetal movements are crucial indicators of fetal well-being, with reduced fetal movements (RFM) suggesting potential fetal compromise. Fetal growth restriction (FGR), often linked to placental insufficiency, is a major cause of perinatal morbidity and mortality. This study aimed to investigate the neonatal, labor, and placental outcomes of FGR pregnancies with and without RFM at term. Methods: In this retrospective study, data from all term, singleton deliveries with FGR and concomitant RFM were obtained and compared to an equal control group of FGR without RFM. Maternal characteristics, pregnancy and neonatal outcomes, and placental histology were compared. The primary outcome was a composite of adverse neonatal outcomes. A multivariable regression analysis was performed to identify independent associations with adverse neonatal outcomes. Results: During the study period, 250 FGR neonates with concomitant RFM and an equal control group were identified. The groups did not differ in maternal demographics aside from significantly higher rates of maternal smoking in the RFM group (p < 0.001). Polyhydramnios and oligohydramnios (p = 0.032 and p = 0.007, respectively) and meconium-stained amniotic fluid (p < 0.001) were more prevalent in the FGR+RFM group. Additionally, the RFM group showed higher rates of adverse neonatal outcomes despite having larger neonates (p = 0.047 and p < 0.001, respectively). No significant differences were observed in placental findings. Logistic regression identified RFM as an independent predictor of adverse neonatal outcomes (aOR 2.45, 95% CI 1.27–4.73, p = 0.008). Conclusion: Reduced fetal movements are significant and independent predictors of worse neonatal outcomes in FGR pregnancies, suggesting an additional acute insult on top of underlying placental insufficiency. [ABSTRACT FROM AUTHOR]

Objective: In the Netherlands, antenatal cardiotocography (aCTG) to assess fetal well‐being is performed in obstetrician‐led care. An innovative initiative was started to evaluate whether aCTG for specific indications—reduced fetal movements, external cephalic version, or postdate pregnancy—is feasible in non‐obstetrician‐led care settings by independent primary care midwives. Quality assessment is essential when reorganizing and shifting tasks and responsibilities. Therefore, we aimed to assess the inter‐ and intraobserver agreement for aCTG assessments between and within four professional groups involved in Dutch maternity care regarding the overall classification and assessment of the various components of aCTG. Method: This was a prospective study among 47 Dutch primary care midwives, hospital‐based midwives, residents, and obstetricians. Ten aCTG traces were assessed twice at a 1 month interval. To ensure a representative sample, we used two different sets of 10 aCTG traces each. We calculated the degree of agreement using the proportions of agreement. Results: The proportions of agreement for interobserver agreement on the classification of aCTG between and within the four professional groups varied from 0.82 to 0.94. The proportions of agreement for each professional group were slightly higher for intraobserver (0.86–0.94) than for interobserver agreement. For the various aCTG components, the proportions of agreement for interobserver agreement varied from 0.64 (presence of contractions) to 0.98 (baseline heart frequency). Conclusion: The proportion of agreement levels between and within the maternity care professionals in the classification of aCTG traces among healthy women were comparable. This means that these professional groups are equally well able to classify aCTGs in healthy pregnant women. Synopsis: The proportion of agreement levels between and within professionals in midwife‐led and obstetrician‐led care in the classification of antenatal cardiotocography traces among healthy women are comparable. [ABSTRACT FROM AUTHOR]

Copyright of African Journal of Reproductive Health is the property of Women's Health & Action Research Centre and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract To investigate whether assisted reproductive technology (ART) affects gross fetal movement. A prospective cohort study. 65 women who conceived with ART (ART group) and 211 women (control group) without ART recorded fetal movement with the fetal movement acceleration measurement recorder at night weekly after 28 weeks. The number ratio of 10 s epochs with fetal movement to all epochs was calculated as the fetal movement parameter. When no fetal movement was observed for more than 5 min, it was defined as a no fetal movement period, and the average number per hour, the average duration, and the longest duration of the no fetal movement periods were calculated as the no fetal movement parameters. Gestational weeks were classified into 28–33 and 34–39 weeks, and the fetal movement parameter and the no fetal movement parameters were compared using the Student’s t-test. The fetal movement parameters at 28–33 weeks were 17.43% (ART) and 16.58% (control) (p = 0.219), and those at 34–39 weeks were 11.72% (ART) and 11.96% (control) (p = 0.590). In the same way, for the no fetal movement parameters, the average numbers were 1.58 and 1.63 per hour (p = 0.357), and 2.36 and 2.30 per hour (p = 0.503). The average durations were 8.30 and 8.46 min (p = 0.712), and 9.20 and 9.51 min (p = 0.188). The longest durations were 16.26 and 17.02 min (p = 0.295), and 22.34 and 22.87 min (p = 0.534). ART does not affect gross fetal movement count.

Background: Congenital malignancies are unusual fetal conditions, and therefore, the data on their prenatal manifestation are limited. Transient abnormal myelopoiesis (TAM) is a hematologic disorder characteristic for babies with trisomy 21 and based on the transient appearance of blast cells in peripheral blood. Methods: This paper presents prenatal manifestation of congenital TAM in a newborn with normal karyotype and reviews the literature on prenatal manifestation of this disorder. Results: A pregnant woman in her third pregnancy referred herself to the hospital for reduced fetal movements at 30 weeks of gestation. Admission's ultrasound scan showed an increased middle cerebral artery peak systolic velocity together with hepatomegaly. The patient was admitted to the labor ward for cardiotocography monitoring which showed acute fetal distress with repeated unprovoked decelerations. An emergency cesarean section was conducted and a phenotypically normal female newborn with low Apgar score was delivered. Further examination of the peripheral blood revealed anemia and leukocytosis with high blast proportion. A bone marrow aspirate revealed 70.2% of blasts in a sample with an abnormal karyotype of 47 XX+21. Cytogenetic analysis of the blasts with later microarray comparative genomic hybridization confirmed the presence of GATA1 mutation. However, the buccal smear showed a normal karyotype in the infant. The disease was classified as TAM. Conclusions: Our study demonstrates a rare case of prenatal manifestation of TAM in a neonate with a normal karyotype. Obstetricians should pay attention to symptoms like high MCA PSV and hepatosplenomegaly as possible causes of fetal hematological disorders and differentiate it with infection or isoimmunization. [ABSTRACT FROM AUTHOR]

Prenatal exposure to Benzo[a]pyrene (BaP) has been suggested to increase the risk of adverse pregnancy outcomes. However, the role of placental apoptosis on BaP reproductive toxicity is poorly understood. We conducted a maternal animal model of C57BL/6 wild-type (WT) and transformation-related protein 53 (Trp53) heterozygous knockout (p53KO) mice, as well as a nested case–control study involving 83 women with PB and 82 term birth from a birth cohort on prenatal exposure to BaP and preterm birth (PB). Pregnant WT and p53KO mice were randomly allocated to BaP treatment and control groups, intraperitoneally injected of low (7.8 mg/kg), medium (35 mg/kg), and high (78 mg/kg) doses of 3,4-BaP per day and equal volume of vegetable oil, from gestational day 10.5 until delivery. Results show that high-dose BaP treatment increased the incidence of preterm birth in WT mice. The number of fetal deaths and resorptions increased with increasing doses of BaP exposure in mice. Notably, significant reductions in maternal and birth weights, increases in placental weights, and decrease in the number of livebirths were observed in higher-dose BaP groups in dose-dependent manner. We additionally observed elevated p53-mediated placental apoptosis in higher BaP exposure groups, with altered expression levels of p53 and Bax/Bcl-2. In case–control study, the expression level of MMP2 was increased among women with high BaP exposure and associated with the increased risk of all PB and moderate PB. Our study provides the first evidence of BaP-induced reproductive toxicity and its adverse effects on maternal–fetal outcomes in both animal and population studies. [ABSTRACT FROM AUTHOR]

Objective Methods Results Conclusions Commercial products currently available for sperm selection utilizing hyaluronic acid (HA) binding prior to intracytoplasmic sperm injection (ICSI) are widely used but have some disadvantages. To potentially circumvent these limitations, we compared ICSI using a self‐made hyaluronic acid (smHA) reagent with ICSI using SpermSlow.The binding of the reagents to spermatozoa on plastic‐ or glass‐bottom dishes was quantitated using spermatozoa that were isolated by density‐gradient centrifugation and swim‐up procedures (N = 10/group). Additionally, we investigated the relationship between the HA reagent used prior to ICSI and clinical outcomes after assisted reproduction with HA‐ICSI (N = 81).The smHA reagent exhibited extremely stable binding to human spermatozoa. The binding time of spermatozoa was significantly longer in the smHA reagent than in SpermSlow on both plastic and glass dishes (plastic: 60.0 ± 0.0 min vs. 2.7 ± 5.9 min, P < 0.001; glass: 60.0 ± 0.0 min vs. 2.5 ± 1.8 min, P < 0.001). There were no significant differences in the normal fertilization rate between HA‐ICSI with the smHA reagent (128/160, 80.0%) and HA‐ICSI with SpermSlow (171/231, 74.0%, P = 0.184). The frequency of the blastocyst development from the HA‐ICSI‐derived zygote was significantly higher with the smHA reagent (74/101, 73.3%) than with SpermSlow (76/131, 58.0%, P = 0.019). The rates of biochemical pregnancy, clinical pregnancy, fetal heart movement, live birth, and miscarriage were not significantly different between HA‐ICSI with the smHA reagent and HA‐ICSI with SpermSlow.The blastulation rate was higher for HA‐ICSI with the smHA reagent as compared with SpermSlow. Clinical outcomes, excluding blastulation, after HA‐ICSI were the same using smHA reagent and using SpermSlow. Spermatozoa binding to the smHA reagent was not attenuated over a 60‐min time course. In conclusion, this reagent may shorten and simplify HA‐ICSI procedures because smHA can be used with any dish material, making it easier to observe the spindle or assess intracytoplasmic morphology. [ABSTRACT FROM AUTHOR]

The study was conducted to investigate the effect of virtual reality on fetal movement, fetal heart rate, maternal satisfaction, fatigue and anxiety levels. The data of this randomized control experimental design study were collected using the State Anxiety Inventory, the Visual Analogue for Fatigue and the Newcastle-Satisfaction-Nursing-Care-Scale. A total of 88 pregnant women were included in the study. While the pregnant women in the experimental group watched a nature video with virtual reality during the Non-Stress Test procedure, those in the control group underwent the routine Non-Stress Test. The anxiety scores, the maternal satisfaction scores significantly higher in the experimental group. The virtual reality application is effective in reducing fatigue. There was a significant difference only in the experimental group in terms of systolic blood pressure, pulse values, the number of fetal movements and accelerations. It is recommended to have pregnant women use virtual reality during the Non-Stress Test procedure. [ABSTRACT FROM AUTHOR]

This study aimed to explore the genetic causes of agenesis of the corpus callosum (ACC) and assess the utility of karyotype analysis, copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) to genetically diagnose fetal ACC. We retrospectively examined 40 fetuses diagnosed with ACC who underwent prenatal ultrasonography or magnetic resonance imaging between January 2019 and October 2023. Genetic tests were conducted on the fetuses using karyotype analysis or CNV-seq as the first-line diagnosis. WES was performed if aneuploid and pathogenic CNVs were excluded. Among the 40 fetuses, 29 (72 %) had non-isolated ACC and 11 (28 %) had isolated ACC. Cerebellar dysplasia and hydrocephalus were the most common abnormal developments in the central nervous system. Twenty-eight patients underwent karyotype analysis, with a detection rate of 14 % (4/28). Twenty-six patients underwent CNV-seq; three patients were found to have pathogenic CNVs, with a detection rate of 12 % (3/26). Thirty-three fetuses with no findings of karyotype analysis or CNV-seq were subsequently tested using WES, with a detection rate of 36 % (12/33). Overall, the total diagnostic yield was 48 % (19/40), and monogenic etiology accounted for 30 % (12/40). The genetic detection rate of fetal non-isolated ACC (62 %, 18/29) was higher than that of isolated ACC (9 %, 1/11). Prenatal genetic analysis of fetuses with ACC is clinically significant, with monogenic disorders being the main cause. WES may enhance the detection rate of fetuses with ACC with negative karyotype analysis or CNV-seq results. [ABSTRACT FROM AUTHOR]

Objective: Fetal movements are often used as a surrogate for fetal wellbeing. Previous research suggests a link between maternal perception of decreased fetal movements (DFM) and small‐for‐gestational‐age (SGA) infants. The aim of this study was to investigate the association between maternal presentation with DFM and birth‐weight centile categories at a large Australian perinatal center. Methods: This was a retrospective study of non‐anomalous singleton infants born at ≥ 28 + 0 weeks' gestation between January 2016 and October 2020 at the Mater Mothers' Hospital in Brisbane, Australia. The primary outcome was the rate of DFM according to birth‐weight centile category. Maternal demographic characteristics included age, body mass index, ethnicity, parity, medical conditions and previous stillbirth. The association between DFM and birth‐weight centile was evaluated using adjusted multinomial regression models. Robust standard errors were used to account for clustering at the patient level. Wald tests and Akaike's and Bayesian information criteria were used to evaluate models. Results: Over the 5‐year study period, 45 042 women met the inclusion criteria. Of these, 6690 (14.9%) women presented with DFM. Of the DFM cohort, 80.9% (5411/6690) had only one presentation with DFM, and 19.1% (1279/6690) had two or more presentations. The overall stillbirth rate was similar in women with DFM (0.1% (8/6690)) and those without DFM (0.1% (50/38 352)). There was no association between DFM (either single or multiple) and infant birth‐weight centile. Conclusions: This study suggests that presentation with DFM is not associated with infant size. Clinicians should consider additional risk factors and the overall clinical context when deciding appropriate management. DFM is not necessarily an indication for an immediate or urgent ultrasound scan to assess fetal size. © 2024 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]

To explore the impact of oligohydramnios on fetal movement and hip development, given its association with developmental dysplasia of the hip (DDH) but unclear mechanisms. Chick embryos were divided into four groups based on the severity of oligohydramnios induced by amniotic fluid aspiration (control, 0.2 mL, 0.4 mL, 0.6 mL). Fetal movement was assessed by detection of movement and quantification of residual amniotic fluid volume. Hip joint development was assessed by gross anatomic analysis, micro-computed tomography (micro-CT) for cartilage assessment, and histologic observation at multiple time points. In addition, a subset of embryos from the 0.4 mL aspirated group underwent saline reinfusion and subsequent evaluation. Increasing volumes of aspirated amniotic fluid resulted in worsening of fetal movement restrictions (e.g., 0.4 mL aspirated and control group at E10: frequency difference −7.765 [95% CI: −9.125, −6.404]; amplitude difference −0.343 [95% CI: −0.588, −0.097]). The 0.4 mL aspirated group had significantly smaller hip measurements compared to controls, with reduced acetabular length (−0.418 [95% CI: −0.575, −0.261]) and width (−0.304 [95% CI: −0.491, −0.117]) at day E14.5. Histological analysis revealed a smaller femoral head (1.084 ± 0.264 cm) and shallower acetabulum (0.380 ± 0.106 cm) in the 0.4 mL group. Micro-CT showed cartilage matrix degeneration (13.6% [95% CI: 0.6%, 26.7%], P = 0.043 on E14.5). Saline reinfusion resulted in significant improvements in the femoral head to greater trochanter (0.578 [95% CI: 0.323, 0.833], P = 0.001). Oligohydramnios can cause DDH by restricting fetal movement and disrupting hip morphogenesis in a time-dependent manner. Timely reversal of oligohydramnios during the fetal period may prevent DDH. [ABSTRACT FROM AUTHOR]

Background: TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with congenital or childhood onset. The onset and severity of the features were considered to be correlated with the types and location of the TTN variants. Methods: Whole-exome sequencing was performed on three unrelated families presenting with fetal akinesia deformation sequence (FADS), mainly characterized by reduced fetal movements and limb contractures. Sanger sequencing was performed to confirm the variants. RT-PCR analysis was performed. Results: TTN c.38,876–2 A > C, a meta transcript-only variant, with a second pathogenic or likely pathogenic variant in trans, was observed in five affected fetuses from the three families. Sanger sequencing showed that all the fetal variants were inherited from the parents. RT-PCR analysis showed two kinds of abnormal splicing, including intron 199 extension and skipping of 8 bases. Conclusions: Here we report on three unrelated families presenting with FADS caused by four TTN variants. In addition, our study demonstrates that pathogenic meta transcript-only TTN variant can lead to defects which is recognizable prenatally in a recessive manner. [ABSTRACT FROM AUTHOR]

To determine the effect of self-evaluation of foetal movement and position tracking on prenatal attachment and distress. The study was a randomised controlled study. The study included women who came to the Kahramanmaraş Maternity and Children's Hospital for prenatal examination. The data were collected using a questionnaire form, the prenatal attachment inventory (PAI), and the Tilburg pregnancy distress scale (TPDS). The pregnant women in the intervention group were trained to count the foetal movements and track the position of the foetus. Data were evaluated using paired samples t-test, independent samples t-test, chi-square test, Pearson correlation analysis, and linear regression analysis. This trial was registered at ClinicalTrials.gov under the process NCT05313113. Although the mean PAI pre-test scores were similar in the intervention and control groups (t = −0.811; p = 0.420), a significant difference was observed in the mean post-test scores between the two groups (t = 6.404; p < 0.001). The mean TPDS pre-test scores were similar in both groups (t = 0.933; p = 0.453), but a significant difference was observed in the mean post-test scores (t = −3.345; p < 0.001). Thus, self-evaluation of foetal movement and foetal position tracking increased the prenatal attachment. [ABSTRACT FROM AUTHOR]

Purpose: To investigate genetic etiology and pregnancy outcomes of fetal central nervous system (CNS) anomalies. Methods: 217 fetuses with CNS anomalies were included in our cohort from January 2016 to December 2022. 124 cases received karyotyping and 73 cases simultaneously underwent copy number variant sequencing (CNV-seq). Dynamic ultrasound screening and pregnancy outcomes were followed up, including neonates' neurodevelopmental outcomes. Results: (1) 20 types of CNS anomalies were revealed by ultrasound and the most common was ventriculomegaly. (2) 14 (11.3%) of 124 cases were found chromosomal abnormalities by karyotyping, and copy number variations (CNVs) were revealed in 13 (17.8%) of 73 cases by CNV-seq. Fetuses with non-isolated CNS anomalies had a higher detection rate (DR) of abnormal karyotypes and CNVs than those with isolated CNS anomalies (25.0% vs. 4.8%; 35.0% vs. 11.3%) (P < 0.05). And the DR of abnormal karyotypes was significantly higher in multiple CNS anomalies than in single CNS anomaly (16.7% vs. 2.8%, P < 0.05), while there were no significant differences in the DR of CNVs. (3) Through dynamic ultrasound, 12 cases were further found progression or additional malformations. (4) Pregnancy outcomes of 209 cases were obtained, including 136 (65.1%) live births, 3 (1.4%) intrauterine fetal deaths, and 70 (33.5%) terminated. Two neonatal deaths at 6 months and one infant with motor and intellectual disabilities were finally found after long-term follow-up. Conclusion: Genetic analysis combined with dynamic ultrasound screening and multidisciplinary consultation plays an important role in evaluating the prognosis of fetal CNS anomalies, especially for those with multiple CNS or extracranial abnormalities. [ABSTRACT FROM AUTHOR]

Abstract Background Fetal movement monitoring is one of the strategies used to assess the fetus’s health. Until now, most studies focused on the decreased fetal movement and neonatal outcome, although this systematic review and meta-analysis is designed to assess the association between increased fetal movements (IFM) with perinatal outcomes. Method The electronic databases including PubMed, Scopus, Web of Science, and EMBASE were systematically searched for studies investigating the perinatal outcome of women with increased fetal movements from inception to July 2023. Following that, a random-effect meta-analysis model was used to obtain the combined diagnostic and predictive parameters including perinatal mortality (still birth and early neonatal mortality), operative delivery, Apgar score, neonatal resuscitation at birth and NICU Admission. Results After the initial screening, seven studies examining the association between increased third trimester fetal movement and various perinatal outcomes were included. Meta-analysis revealed a significant reduction in the risk of cesarean delivery among patients with IFM compared to controls, suggesting a potential protective effect during childbirth. However, no statistically significant difference was observed in birth weight, small or large for gestational age births, neonatal intensive care unit admission, maternal age, umbilical cord around the neck, gestational diabetes mellitus, and hypertension, indicating that IFM may not be a major predictor of adverse perinatal outcomes or maternal conditions. Notably, IFM was significantly associated with a higher likelihood of labor induction. Conclusion The findings suggest that IFM may have a protective effect against cesarean delivery. Additionally, IFM does not appear to be significantly associated with maternal age, umbilical cord around the neck, gestational diabetes mellitus and hypertension. However, the observed significant association with labor induction warrants further investigation.

AbstractObjective Strengthening the management of women’s self-monitoring during pregnancy is important to reduce fetal death in utero and improve maternal and infant outcomes. However, due to the lack of awareness among pregnant women about the importance of self-monitoring fetal movement, resulting in low behavioral compliance, adverse pregnancy outcomes remain common in China. This study aimed to investigate the relationship between social support and health beliefs and the self-monitoring behavior of fetal movement. In addition, we examined the moderating and mediating effects of health beliefs on fetal movement self-monitoring.Methods This cross-sectional study was conducted on 200 postpartum mothers in a tertiary hospital in China. The mothers were asked to complete a socio-demographic questionnaire, the fetal movement self-monitoring behavior questionnaire, the fetal movement self-monitoring health beliefs questionnaire, and the social support rating scale. Data from the questionnaires were analyzed and compared using SPSS 24.0 and PROCESS 3.2.Results The results of this study showed that the total scores of social supports, health beliefs, fetal movement self-monitoring were 42.98 ± 11.65, 78.605 ± 13.73, and 11.635 ± 2.86, respectively. The study found that when social support and health beliefs were included in the regression equation, both social support and health beliefs showed a positive correlation with fetal movement self-monitoring. Health beliefs partially mediated the effect of social support on fetal movement self-monitoring, accounting for 37.5% of the total effect.Conclusion Social support and health beliefs play a crucial role in influencing the self-monitoring behavior of fetal movements. Therefore, strengthening social support and health beliefs during pregnancy has the potential to improve compliance with fetal movement self-monitoring behaviors for pregnant women.

Maternal type 2 diabetes mellitus (T2DM) has been shown to result in foetal programming of the hypothalamic–pituitary–adrenal (HPA) axis, leading to adverse foetal outcomes. T2DM is preceded by prediabetes and shares similar pathophysiological complications. However, no studies have investigated the effects of maternal prediabetes on foetal HPA axis function and postnatal offspring development. Hence, this study investigated the effects of pregestational prediabetes on maternal HPA axis function and postnatal offspring development. Pre-diabetic (PD) and non-pre-diabetic (NPD) female Sprague Dawley rats were mated with non-prediabetic males. After gestation, male pups born from the PD and NPD groups were collected. Markers of HPA axis function, adrenocorticotropin hormone (ACTH) and corticosterone, were measured in all dams and pups. Glucose tolerance, insulin and gene expressions of mineralocorticoid (MR) and glucocorticoid (GR) receptors were further measured in all pups at birth and their developmental milestones. The results demonstrated increased basal concentrations of ACTH and corticosterone in the dams from the PD group by comparison to NPD. Furthermore, the results show an increase basal ACTH and corticosterone concentrations, disturbed MR and GR gene expression, glucose intolerance and insulin resistance assessed via the Homeostasis Model Assessment (HOMA) indices in the pups born from the PD group compared to NPD group at all developmental milestones. These observations reveal that pregestational prediabetes is associated with maternal dysregulation of the HPA axis, impacting offspring HPA axis development along with impaired glucose handling. [ABSTRACT FROM AUTHOR]

Background: Fetal movement monitoring is one of the strategies used to assess the fetus's health. Until now, most studies focused on the decreased fetal movement and neonatal outcome, although this systematic review and meta-analysis is designed to assess the association between increased fetal movements (IFM) with perinatal outcomes. Method: The electronic databases including PubMed, Scopus, Web of Science, and EMBASE were systematically searched for studies investigating the perinatal outcome of women with increased fetal movements from inception to July 2023. Following that, a random-effect meta-analysis model was used to obtain the combined diagnostic and predictive parameters including perinatal mortality (still birth and early neonatal mortality), operative delivery, Apgar score, neonatal resuscitation at birth and NICU Admission. Results: After the initial screening, seven studies examining the association between increased third trimester fetal movement and various perinatal outcomes were included. Meta-analysis revealed a significant reduction in the risk of cesarean delivery among patients with IFM compared to controls, suggesting a potential protective effect during childbirth. However, no statistically significant difference was observed in birth weight, small or large for gestational age births, neonatal intensive care unit admission, maternal age, umbilical cord around the neck, gestational diabetes mellitus, and hypertension, indicating that IFM may not be a major predictor of adverse perinatal outcomes or maternal conditions. Notably, IFM was significantly associated with a higher likelihood of labor induction. Conclusion: The findings suggest that IFM may have a protective effect against cesarean delivery. Additionally, IFM does not appear to be significantly associated with maternal age, umbilical cord around the neck, gestational diabetes mellitus and hypertension. However, the observed significant association with labor induction warrants further investigation. [ABSTRACT FROM AUTHOR]

Transcriptional response to changes in oxygen concentration is mainly controlled by hypoxia-inducible transcription factors (HIFs). Besides regulation of hypoxia-responsible gene expression, HIF-3α has recently been shown to be involved in lung development and in the metabolic process of fat tissue. However, the precise mechanism for such properties of HIF-3α is still largely unknown. To this end, we generated HIF3A gene-disrupted mice by means of genome editing technology to explore the pleiotropic role of HIF-3α in development and physiology. We obtained adult mice carrying homozygous HIF3A gene mutations with comparable body weight and height to wild-type mice. However, the number of litters and ratio of homozygous mutation carriers born from the mating between homozygous mutant mice was lower than expected due to sporadic deaths on postnatal day 1. HIF3A gene-disrupted mice exhibited abnormal configuration of the lung such as a reduced number of alveoli and thickened alveolar walls. Transcriptome analysis showed, as well as genes associated with lung development, an upregulation of stearoyl-Coenzyme A desaturase 1, a pivotal enzyme for fatty acid metabolism. Analysis of fatty acid composition in the lung employing gas chromatography indicated an elevation in palmitoleic acid and a reduction in oleic acid, suggesting an imbalance in distribution of fatty acid, a constituent of lung surfactant. Accordingly, administration of glucocorticoid injections during pregnancy resulted in a restoration of normal alveolar counts and a decrease in neonatal mortality. In conclusion, these observations provide novel insights into a pivotal role of HIF-3α in the preservation of critically important structure and function of alveoli beyond the regulation of hypoxia-mediated gene expression. [ABSTRACT FROM AUTHOR]

Maternal reports of decreased fetal movement (DFM) are a common reason to present to maternity care and are associated with stillbirth and other adverse outcomes. Promoting awareness of fetal movements and prompt assessment of DFM has been recommended to reduce stillbirths. However, evidence to guide clinical management of such presentations is limited. Educational approaches to increasing awareness of fetal movements in pregnant women and maternity care providers with the aim of reducing stillbirths have recently been evaluated in a several large clinical trials internationally. The International Stillbirth Alliance Virtual Conference in Sydney 2021 provided an opportunity for international experts in fetal movements to share reports on the findings of fetal movement awareness trials, consider evidence for biological mechanisms linking DFM and fetal death, appraise approaches to clinical assessment of DFM, and highlight research priorities in this area. Following this workshop summaries of the sessions prepared by the authors provide an overview of understandings of fetal movements in maternity care at the current time and highlights future directions in fetal movement research. Synopsis: This conference workshop report provides an overview of contemporary understandings of decreased fetal movements in maternity care highlighting future directions in fetal movement research. [ABSTRACT FROM AUTHOR]

Early life exposure lays the groundwork for the risk of developing cardiovascular–kidney–metabolic (CKM) syndrome in adulthood. Various environmental chemicals to which pregnant mothers are commonly exposed can disrupt fetal programming, leading to a wide range of CKM phenotypes. The aryl hydrocarbon receptor (AHR) has a key role as a ligand-activated transcription factor in sensing these environmental chemicals. Activating AHR through exposure to environmental chemicals has been documented for its adverse impacts on cardiovascular diseases, hypertension, diabetes, obesity, kidney disease, and non-alcoholic fatty liver disease, as evidenced by both epidemiological and animal studies. In this review, we compile current human evidence and findings from animal models that support the connection between antenatal chemical exposures and CKM programming, focusing particularly on AHR signaling. Additionally, we explore potential AHR modulators aimed at preventing CKM syndrome. As the pioneering review to present evidence advocating for the avoidance of toxic chemical exposure during pregnancy and deepening our understanding of AHR signaling, this has the potential to mitigate the global burden of CKM syndrome in the future. [ABSTRACT FROM AUTHOR]

Objectives: Fetal premature atrial contractions (PAC) are usually benign but may be associated with congenital heart defect (CHD) and tachyarrhythmia, which in turn carry a risk of cardiac failure and fetal death. We aimed to explore the frequency of adverse outcome and to identify risk factors for tachyarrhythmia in pregnancies complicated by fetal PAC. Methods: This was a retrospective cohort study of fetuses diagnosed with PAC at two academic centers in Amsterdam, The Netherlands, between 2007 and 2022. Cases with a congenital anomaly and those with a prior diagnosis of CHD or other arrhythmias were excluded. M‐mode and Doppler tracings were reanalyzed and the frequency of PAC was recorded. The incidence of the following adverse outcomes was examined: underlying CHD not identified at the 20‐week fetal anomaly scan, tachyarrhythmia, other arrhythmia, administration of antiarrhythmic therapy and death. Risk factors for tachyarrhythmia were analyzed using odds ratios (OR). Results: In 24.1% of 1439 referred cases, PAC resolved before confirmation at the fetal medicine unit (FMU). Of the 939 included cases with confirmed PAC, the total incidence of adverse outcome was 6.8% (64/939). CHD was diagnosed in 14 (1.5% (95% CI, 0.9–2.5%)) cases, of which eight were diagnosed prenatally and six postnatally. Compared with baseline, the incidence of CHD was higher in the presence of fetal PAC (OR, 1.8 (95% CI, 1.0–3.3); P = 0.034). Tachyarrhythmia occurred prenatally and/or postnatally in 32 (3.4%) cases, of which eight (25.0%) showed signs of cardiac failure, and in 23 (71.9%) cases, antiarrhythmic therapy was required. No cases of tachyarrhythmia led to fetal or infant death. Risk factors for tachyarrhythmia were PAC with short runs of supraventricular tachycardia (OR, 98.7), blocked PAC (OR, 30.3), PAC in bigeminy (OR, 21.8), frequent PAC (one per 5–10 beats) (OR, 6.9), signs of cardiac failure (OR, 14.2) and the presence of a foramen ovale aneurysm (OR, 5.0). Conclusions: PAC are generally benign and often resolve spontaneously. However, fetuses with an irregular heart rhythm should be referred for advanced ultrasonography, which should focus on classifying the type of PAC and risk of adverse outcome. When risk factors for tachyarrhythmia are identified, weekly fetal heart‐rate monitoring is advised until resolution of the PAC. In the absence of risk factors, standard obstetric care may be sufficient, with additional instructions to report reduced fetal movements. Should tachyarrhythmia or cardiac failure develop, referral back to the FMU is indicated. © 2023 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]

Objectives: The identification of structural variants and single‐nucleotide variants is essential in finding molecular etiologies of monogenic genetic disorders. Whole‐genome sequencing (WGS) is becoming more widespread in genetic disease diagnosis. However, data on its clinical utility remain limited in prenatal practice. We aimed to expand our understanding of implementing WGS in the genetic diagnosis of fetal structural anomalies. Methods: We employed trio WGS with a minimum coverage of 40× on the MGI DNBSEQ‐T7 platform in a cohort of 17 fetuses presenting with aberrations detected by ultrasound, but uninformative findings of standard chromosomal microarray analysis (CMA) and exome sequencing (ES). Results: Causative genetic variants were identified in two families, with an increased diagnostic yield of 11.8% (2/17). Both were exon‐level copy‐number variants of small size (3.03 kb and 5.16 kb) and beyond the detection thresholds of CMA and ES. Moreover, to the best of our knowledge, we have described the first prenatal instance of the association of FGF8 with holoprosencephaly and facial deformities. Conclusions: Our analysis demonstrates the clinical value of WGS in the diagnosis of the underlying etiology of fetuses with structural abnormalities, when routine genetic tests have failed to provide a diagnosis. Additionally, the novel variants and new fetal manifestations have expanded the mutational and phenotypic spectrums of BBS9 and FGF8. © 2023 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Rationale: Oral appliances are second-line treatments after continuous positive airway pressure for obstructive sleep apnea (OSA) management. However, the need for oral appliance titration limits their use as a result of monitoring challenges to assess the treatment effect on OSA. Objectives: To assess the validity of mandibular jaw movement (MJM) automated analysis compared with polysomnography (PSG) and polygraphy (PG) in evaluating the effect of oral appliance treatment and the effectiveness of MJM monitoring for oral appliance titration at home in patients with OSA. Methods: This observational, prospective study included 135 patients with OSA eligible for oral appliance therapy. The primary outcome was the apnea–hypopnea index (AHI), measured through in-laboratory PSG/PG and MJM-based technology. Additionally, MJM monitoring at home was conducted at regular intervals during the titration process. The agreement between PSG/PG and MJM automated analysis was revaluated using Bland-Altman analysis. Changes in AHI during the home-based oral appliance titration process were evaluated using a generalized linear mixed model and a generalized estimating equation model. Results: The automated MJM analysis demonstrated strong agreement with PG in assessing AHI at the end of titration, with a median bias of 0.24/h (limits of agreement, −11.2 to 12.8/h). The improvement of AHI from baseline in response to oral appliance treatment was consistent across three evaluation conditions: in-laboratory PG (−59.6%; 95% confidence interval, −59.8% to −59.5%), in-laboratory automated MJM analysis (−59.2%; −65.2% to −52.2%), and at-home automated MJM analysis (−59.7%; −67.4% to −50.2%). Conclusions: Incorporating MJM automated analysis into the oral appliance titration process has the potential to optimize oral appliance therapy outcomes for OSA. [ABSTRACT FROM AUTHOR]

Background: Echogenic Intracardiac Foci (EIF) are non-structural markers identified during the routine 18–20-week foetal anomaly ultrasound scan yet their clinical significance on future outcomes for the infant is unclear. Objective: To examine the association between EIF and risk of preterm birth, chromosomal abnormalities, and cardiac abnormalities. Design: A review across four databases to identify English language journal articles of EIF using a cohort study design. All studies were reviewed for quality using the Critical Appraisal Skills Programme (CASP) checklist and data extracted for comparison and analysis. Results: 19 papers from 9 different countries were included. Combining these studies showed 4.6% (95% CI = 4.55–4.65%) of all pregnancies had EIF which was on the left in 86% of cases, on the right in 3% of cases and bilaterally in 10%. There was no evidence that EIF was associated with higher rates of preterm birth. However, it is possible that infants with EIF were more likely to be terminated rather than be born preterm as there was a 2.1% (range 0.3–4.2%) rate of termination or death of the foetus after week 20 among those with EIF. There was no evidence that EIF alone is highly predictive of chromosomal abnormalities. There was evidence that EIF is associated with higher rates of minor cardiac abnormalities (e.g. ventricular septal defect, tricuspid regurgitation or mitral regurgitation)) with 5.1% (224 of 4385) of those with EIF showing cardiac abnormalities (3.08% in retrospective studies and 17.85% in prospective studies). However, the risk of cardiac defects was only higher with right-sided EIF and where the EIF persisted into the third trimester. However, this is a rare event and would be seen in an estimated 4 per 10,000 pregnancies. Conclusion: EIF alone was not associated with adverse outcomes for the infant. Only persistent EIF on the right side showed evidence of carrying a higher risk of cardiac abnormality and would warrant further follow-up. [ABSTRACT FROM AUTHOR]

This study aimed to assess fetal radiation exposure in pregnant women undergoing computed tomography (CT) and rotational angiography (RA) examinations for the diagnosis of pelvic trauma. In addition, this study aimed to compare the dose distributions between the two examinations. Surface and average fetal doses were estimated during CT and RA examinations using a pregnant phantom model and real-time dosemeters. The pregnant model phantom was constructed using an anthropomorphic phantom, and a custom-made abdominal phantom was used to simulate pregnancy. The total average fetal dose received by pregnant women from both CT scans (plain, arterial and equilibrium phases) and a single RA examination was ~60 mGy. Because unnecessary repetition of radiographic examinations, such as CT or conventional 2D angiography can increase the radiation risk, the irradiation range should be limited, if necessary, to reduce overall radiation exposure. [ABSTRACT FROM AUTHOR]

STUDY QUESTION Does fetal genetically determined birth weight associate with the timing of puberty? SUMMARY ANSWER Lower fetal genetically determined birth weight was causally associated with an earlier onset of puberty, independent of the indirect effects of the maternal intrauterine environment. WHAT IS KNOWN ALREADY Previous Mendelian randomization (MR) studies have indicated a potential causal link between birth weight, childhood BMI, and the onset of puberty. However, they did not distinguish between genetic variants that have a direct impact on birth weight through the fetal genome (referred to as fetal genetic effects) and those that influence birth weight indirectly by affecting the intrauterine environment (known as maternal genetic effects). It is crucial to emphasize that previous studies were limited because they did not account for the potential bias caused by unaddressed correlations between maternal and fetal genetic effects. Additionally, the proportion of birth weight variation explained by the fetal genome is considerably larger than that of the maternal genome. STUDY DESIGN, SIZE, DURATION We performed two-sample MR analyses to investigate the causal effect of fetal genetically determined birth weight on puberty timing using summary data from large-scale genome-wide association studies (GWASs) in individuals of European ancestry. PARTICIPANTS/MATERIALS, SETTING, METHODS From the two most recent GWASs specifically centered on birth weight, which included 406 063 individuals and 423 683 individuals (63 365 trios) respectively, we identified genetic variants associated with fetal genetically determined birth weight, while adjusting for maternal genetic effects. We identified genetic variants associated with childhood BMI from an independent GWAS involving 21 309 European participants. On this basis, we employed two-sample MR techniques to examine the possible causal effects of fetal genetically determined birth weight on puberty timing using a large-scale GWAS of puberty timing (including 179 117 females of European ancestry). Furthermore, we employed advanced analytical methods, specifically MR mediation and MR-Cluster, to enhance our comprehension of the causal relationship between birth weight determined by fetal genetics and the timing of puberty. We also explored the pathways through which childhood BMI might act as a mediator in this relationship. MAIN RESULTS AND THE ROLE OF CHANCE In the univariable MR analysis, a one SD decrease in fetal genetically determined birth weight (∼ 418 g) was associated with a 0.16 (95% CI [0.07–0.26]) years earlier onset of puberty. The multivariable MR analysis including fetal genetically determined birth weight and childhood BMI in relation to puberty timing provided compelling evidence that birth weight had a direct influence on the timing of puberty. Lower birth weight (one SD) was associated with an earlier onset of puberty, with a difference of 0.23 (95% CI [0.05–0.42]) years. We found little evidence to support a mediating role of childhood BMI between birth weight and puberty timing (−0.07 years, 95% CI [−0.20 to 0.06]). LIMITATIONS, REASONS FOR CAUTION Our data came from European ancestry populations, which may restrict the generalizability of our results to other populations. Moreover, our analysis could not investigate potential non-linear relationships between birth weight and puberty timing due to limitations in genetic summary data. WIDER IMPLICATIONS OF THE FINDINGS Findings from this study suggested that low birth weight, determined by the fetal genome, contributes to early puberty, and offered supporting evidence to enhance comprehension of the fetal origins of disease hypothesis. STUDY FUNDING/COMPETING INTEREST(S) C.Z. was funded by the Sichuan Province Science and Technology Program [grant number 2021JDR0189]. J.Z. was supported by grants from the National Natural Science Foundation of China [grant number 82373588]. No other authors declare any sources of funding. The authors have no conflicts of interest. TRIAL REGISTRATION NUMBER N/A. [ABSTRACT FROM AUTHOR]

Objective: To characterize obstetric outcomes and the association with umbilical cord (UC) complications among women complaining of reduced fetal movements (RFMs). Methods: This retrospective cohort compared women with a perception of RFMs within 2 weeks prior to delivery with women who reported no changes in fetal movements in terms of maternal characteristics and neonatal outcomes. A primary outcome of UC complications at delivery was defined. Multivariable regression analysis was performed to identify independent associations with RFMs and UC complications. Results: In all, 46 103 women were included, 2591 (5.6%) of whom reported RFMs and 43 512 (94.4%) in the control group. Compared with controls, the RFM group was more likely to be nulliparous (42.6% vs 32.2%, P < 0.001), smokers (6.4% vs 5.4%, P = 0.029), or obese (body mass index >30) (16.4% vs 11.6%, P < 0.001). They were also more likely to have an anterior placenta (56.2% vs 51.8%, P < 0.001) and poly/oligohydramnios (0.7% vs 0.4%, P = 0.015 and 3.6% vs 2.1%, P < 0.001, respectively). Induction of labor was more common in the RFM group (33.9% vs 19.7%, P < 0.001), as well as meconium (16.8% vs 15.0%, P = 0.026) and vacuum extractions (10.1% vs 8.0%, P < 0.001). Higher rates of stillbirth and the severe composite neonatal outcome were observed in the RFM group (1.5% vs 0.2%, P < 0.001 and 0.6% vs 0.3%, P = 0.010, respectively). The RFM group was characterized by higher rates of triple nuchal cord (P = 0.015), UC around body or neck (32.2% vs 29.6%, P = 0.010), and true knot (2.3% vs 1.4%, P = 0.002). Multivariable logistic regression found RFMs to be independently associated with triple nuchal cord and with a true cord knot. A sub‐analysis including only cases of stillbirth (n = 127) revealed even higher rates of UC complications: 7% of all stillbirths presented with a true cord knot (20% true knots were found in stillbirths preceded by RFMs vs 6.1% in stillbirth cases without RFMs). Additionally, 33.8% of all stillbirths presented with nuchal cord (40% preceded by RFMs vs 33.3% without RFMs). Conclusions: RFMs are associated with increased risk of UC complications observed at delivery, as well as increased risk of stillbirth and neonatal adverse outcomes. Synopsis: Reduced fetal movements are associated with umbilical cord complications at delivery such as nuchal cord, triple nuchal cord, or a true knot. [ABSTRACT FROM AUTHOR]

This article explores the impact of antenatal corticosteroids on the daily fetal movement count (DFMC) in pregnant women. The study reveals that the use of dexamethasone temporarily reduces DFMC, which may resemble fetal distress. However, the DFMC returns to normal levels within 4-7 days of receiving dexamethasone. The researchers recommend that healthcare providers be aware of this phenomenon to avoid unnecessary premature births. They also suggest using Doppler studies and biophysical profiles alongside DFMC in high-risk pregnancies that have undergone corticosteroid therapy to monitor fetal well-being. [Extracted from the article]

Effective management of labour pain is an essential aspect of care provided to women during childbirth. The aim of this study was to assess pregnant women's knowledge of using non-pharmacological pain relief methods during childbirth. Methods: This quantitative descriptive cross-sectional study was conducted at four hospitals in the Tshwane District of South Africa. The sample consisted of 384 pregnant women. Results: The results show that (n = 200, 52.1%) pregnant women lack knowledge regarding non-pharmacological pain relief methods, while a minority (n = 101, 26.3%) had some knowledge, some (n = 73, 19%) were uncertain about these methods and others (n = 10, 2.6%) did not comment. Additionally, most respondents (n = 232, 60%) never received education about the various methods available to manage pain during labour at antenatal care, while others (n = 131, 34%) agreed that they received such education. A significant relationship between the level of education and knowledge about non-pharmacological pain relief methods was noted (p = 0.0082). In conclusion, respondents knew methods such as massage, breathing exercises, movements and birth positions. However, they lacked knowledge of birth companionship, acupuncture, transcutaneous electrical nerve stimulation (TENS), aromatherapy and music. The overall findings revealed that antenatal care services provided by midwives are not effectively preparing pregnant women for pain relief during childbirth. [ABSTRACT FROM AUTHOR]

A 35-year-old woman at 36 weeks and 4 days gestation with known complete anterior placenta previa and no other medical history presented for routine obstetric follow-up. She reported increasing fatigue in the prior week but otherwise endorsed no new concerns. She denied recent vaginal bleeding or discharge, abdominal pain, contractions, or extremity swelling. On evaluation, her BP was 126/74 mm Hg with a heart rate of 72 beats per min. The results from the physical examination were normal. There was a category II fetal heart rate tracing and a 6/10 biophysical profile (ie, no fetal breathing movements, nonreactive nonstress test), which prompted referral to the hospital. On admission, sonogram confirmed cephalic presentation and redemonstrated complete anterior placenta previa with no evidence of hemorrhage. She received antenatal steroids and was scheduled for a cesarean section delivery. She received bupivacaine spinal anesthesia for the procedure. The surgical procedure progressed with a low transverse uterine incision and subsequent delivery of the baby with no complications noted. Immediately after delivery of the baby and during gentle traction of the placenta, the patient experienced rapid cardiovascular collapse in the form of hypotension and bradycardia. [ABSTRACT FROM AUTHOR]

Magnetic Particle Imaging (MPI) is an advanced and powerful imaging modality for visualization and quantitative real-time detection of magnetic nanoparticles (MNPs). This opens the possibility of tracking cells in vivo once they have been loaded by MNPs. Imaging modalities such as optical imaging, X-ray computed tomography (CT), positron emission tomography (PET), single photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI) face limitations, from depth of penetration and radiation exposure to resolution and quantification accuracy. MPI addresses these challenges, enabling radiation-free tracking of MNP-loaded cells with precise quantification. However, the real-time tracking of MNP-loaded cells with MPI has not been demonstrated yet. This study establishes real-time quantitative tracking of MNP-loaded cells. Therefore, THP-1 monocytes were loaded with three different MNP systems, including the MPI gold standard Resovist and Synomag. The real-time MPI experiments reveal different MPI resolution behaviors of the three MNP systems after cellular uptake. Real-time quantitative imaging was achieved by time-resolved cell number determination and comparison with the number of inserted cells. About 95% of the inserted cells were successfully tracked in a controlled phantom environment. These results underline the potential of MPI for real-time investigation of cell migration and interaction with tissue in vivo. [ABSTRACT FROM AUTHOR]

A 36-year-old woman, gravida 3, para 1 (previous cesarean section), with one medical abortion, and no history of systemic diseases presented an unremarkable medical history during prenatal visits. The final prenatal ultrasound at 38 weeks of gestation showed a vertex presentation, a weight of 2600 g, a normal amniotic fluid level, and the placenta located on the posterior wall of the uterus. Fetal cardiotocography conducted before delivery reported a reactive heart rate without decelerations. The Doppler wave analysis of the fetal umbilical artery was normal (the ratio of peak-systolic flow velocity to the end-diastolic flow velocity was 2.5) without the absence or reversal of end-diastolic velocity. The total score of the fetal biophysical profile by ultrasound was 8. The night before the scheduled cesarean section, she experienced heightened anxiety and was unable to sleep, noting "crazy" fetal movements throughout the night. During the cesarean section, it was discovered that the umbilical cord was wrapped around the newborn's legs, resembling ankle shackles. The fetal weight was 2740 g, and Apgar scores were 9 at the first minute and 10 at the fifth minute. The motility of the neonatal legs was normal without cyanosis or neurological adverse outcomes. [ABSTRACT FROM AUTHOR]

Mechanical stimuli arising from fetal movements are critical factors underlying joint growth. Abnormal fetal movements negatively affect joint shape features with important implications for joint health, but the mechanisms by which mechanical forces from fetal movements influence joint growth are still unclear. In this research, we quantify zebrafish jaw joint growth in 3D in free-to-move and immobilised fish larvae between four and five days post fertilisation. We found that the main changes in size and shape in normally moving fish were in the ventrodorsal axis, while growth anisotropy was lost in the immobilised larvae. We next sought to determine the cell level activities underlying mechanoregulated growth anisotropy by tracking individual cells in the presence or absence of jaw movements, finding that the most dramatic changes in growth rates due to jaw immobility were in the ventrodorsal axis. Finally, we implemented mechanobiological simulations of joint growth with which we tested hypotheses relating specific mechanical stimuli to mechanoregulated growth anisotropy. Different types of mechanical stimulation were incorporated into the simulation to provide the mechanoregulated component of growth, in addition to the baseline (non-mechanoregulated) growth which occurs in the immobilised animals. We found that when average tissue stress over the opening and closing cycle of the joint was used as the stimulus for mechanoregulated growth, joint morphogenesis was not accurately predicted. Predictions were improved when using the stress gradients along the rudiment axes (i.e., the variation in magnitude of compression to magnitude of tension between local regions). However, the most accurate predictions were obtained when using the compressive stress gradients (i.e., the variation in compressive stress magnitude) along the rudiment axes. We conclude therefore that the dominant biophysical stimulus contributing to growth anisotropy during early joint development is the gradient of compressive stress experienced along the growth axes under cyclical loading. Author summary: The mechanical forces caused by fetal movements are important for normal development of the skeleton, and in particular for joint shape. Several common developmental musculoskeletal conditions such as developmental dysplasia of the hip and arthrogryposis are associated with reduced or restricted fetal movements. Paediatric joint malformations impair joint function and can be debilitating. To understand the origins of such conditions, it is essential to understand how the mechanical forces arising from movements influence joint growth and shape. In this research, we used a computational model of joint growth applied to the zebrafish jaw joint to study the impact of fetal movements on joint growth. We find that how the amount of compressive loading changes along the rudiment axes and over the loading cycle is critical to the normal growth of the developing joint. Our findings implicate gradients of compressive loading as a promising target when developing therapeutic strategies (such as targeted physiotherapy) for the treatment of musculoskeletal conditions. [ABSTRACT FROM AUTHOR]

Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at risk. Methods: This study included 27 pregnant women who had previously borne a child with 21-OHD. Fetal tissues were obtained using chorionic villus sampling (CVS) or amniocentesis. After the genomic DNA was isolated, Sanger sequencing of CYP21A2 and multiplex ligation-dependent probe amplification were performed. The clinical and endocrinological findings were reviewed retrospectively. Results: A total of 39 prenatal genetic tests was performed on 27 pregnant women and their fetal tissues. The mean gestational age at the time of testing was 11.7 weeks for CVS and 17.5 weeks for amniocentesis. Eleven fetuses (28.2%) were diagnosed with 21-OHD. Among them, 10 fetuses (90.9%) harbored the same mutation as siblings who were previously diagnosed with 21-OHD. Among these, 4 fetuses (3 males and 1 female) identified as affected were born alive. All 4 patients have been treated with hydrocortisone, 9a-fludrocortisone, and sodium chloride since a mean of 3.7 days of life. The male patients did not show hyponatremia and dehydration, although they harbored pathogenic variants associated with the saltwasting type of 21-OHD. Conclusion: This study demonstrated the diagnostic efficacy and clinical consequences of diagnosis by prenatal genetic testing in families at risk for 21-OHD. All patients identified as affected were treated with hydrocortisone and 9a-fludrocortisone early after birth, which can prevent a life-threatening adrenal crisis. [ABSTRACT FROM AUTHOR]

• Genetic prediction of systemic lupus erythematosus is causally associated with preterm labour, and perinatal management should be strengthened. • Genetically predicted rheumatoid arthritis (RA) has a causal effect on several adverse pregnancy outcomes, and active interventions need to be explored further. • More genome-wide association study subgroup data are needed to further promote implementation. The effect of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) on adverse pregnancy outcomes is a controversial topic. This study aimed to use Mendelian randomization (MR) analysis to assess the causal relationship between SLE, RA and adverse pregnancy outcomes. Genetic variants for SLE and RA, as well as adverse pregnancy outcomes, were derived from pooled statistics from large public genome-wide association studies. Several methods, such as inverse variance weighting (IVW), MR-Egger, weighted median and MR-Pleiotropic Residuals Sum and Outliers, were employed to estimate two-sample causality. Genetic prediction of SLE was associated with higher odds of preterm labour [odds ratio (OR) 1.03, 95 % confidence interval (CI) 1.01–1.05; p = 0.008]. RA was associated with higher odds of preterm labour (OR 1.03, 95 % CI 1.01–1.06; p = 0.009), pre-eclampsia or eclampsia (OR 1.04, 95 % CI 1.01–1.07; p = 0.005), and poor fetal growth (OR 1.08, 95 % CI 1.04–1.12; p = 2.91 × 10−5). The results of bidirectional MR analysis did not indicate that SLE was associated with spontaneous abortion, pre-eclampsia or eclampsia, preterm rupture of membranes, or poor fetal growth (p- value for IVW 0.13–0.97). This study found a genetic association between SLE and the risk of preterm labour, and highlights the importance of perinatal care and monitoring for patients with SLE. Furthermore, RA was found to be associated with a wide range of adverse outcomes, including preterm labour, pre-eclampsia or eclampsia, and poor fetal growth; as such, there is a need for more intensive therapeutic interventions and prenatal monitoring. [ABSTRACT FROM AUTHOR]

• Small fetal HC that are less than −3 SD is associated with genetic variants, especially those with intracranial anomalies. • Fetuses with small head that do not reach the diagnosis criteria of microcephalycan't be simply explained as part of FGR. • Genetic variants, mainly CNV and SNV, can explain a substantial proportion of small fetal HC and most them are de novo. • CMA is practical for testing fetuses with small HC, and WES is more effective for genetic testing. • The novel findings about microcephaly-associated genes add value to the clinical use of exome sequencing in this population. • These findings help with the prenatal diagnosis of suspected fetal microcephaly and distribute to our clinical counselling. Objectives: To comprehensively evaluate the contributions of numerical chromosomal abnormality, copy number variant (CNV), and sequence variant (SV) to fetuses with small head circumference in a Chinese cohort using chromosome microarray analysis and whole exome sequencing. Methods: A total of 157 fetuses with small heads defined as head circumference < − 2 standard deviation (SD) were recruited between October 2014 and March 2023. We used the ultrasonic measurement parameter Z-score to define small head as possible microcephaly (3 < Z ≤ -2), microcephaly (-5 < Z ≤ -3), or pathologic microcephaly (Z ≤ -5). Ultrasound findings and genetic results were analyzed. Results: The overall diagnostic yield of chromosomal abnormalities by microarray analysis was 13 %. Whole exome sequencing revealed eight novel variants and two interesting candidate genes and provided a 25.4 % incremental yield compared with microarray analysis. Of the detected SVs, 56 % were de novo and the most common inheritance pattern was autosomal dominant inheritance presented in 11/16 fetuses. Compared with isolated small heads, non-isolated small heads had a significantly higher detection rate of chromosomal abnormalities (16 % vs. 3.0 %, P = 0.049) but not SVs (24 % vs. 5.5 %, P = 0.126). Subgroup analysis showed that intracranial anomalies had a similar high detection rate of SVs in fetuses with all small heads subgroups while no chromosomal abnormalities and causative SVs were found in fetuses with isolated possible microcephaly. Conclusions: Ultrasound findings of small fetal head circumference < 3 SD below the mean, especially those with intracranial structural abnormalities, indicate the need for genetic counseling. Genetic variants, mainly copy number variants and SV, may be responsible for the substantial proportion of small fetal head circumference, while most are de novo. Whole exome sequencing and microarray analysis are effective diagnostic approaches for this population. [ABSTRACT FROM AUTHOR]

Background: Many women experience constipation during pregnancy and nowadays, nonpharmacological approaches such as reflexology have gained more attention than pharmaceutical ones when it comes to treating pregnancy-related ailments. Aim of the study: Evaluate the effect of foot reflexology on constipation and fetal movement during pregnancy. Research design: A quasi-experimental (case-control) research design was utilized in this study. Settings: This study was conducted at the El-Helal Maternal and Child Health Centre in Damanhour City, El-Beheira Governorate, Egypt. Subjects: Eighty pregnant women at 28-32 gestational weeks. Data collection tools: Tool I: Socio-demographic and clinical data; Tool II: Constipation Assessment Scale (CAS); and Tool III: Kick-chart. Results: In the reflexology intervention group, there is an improvement in constipation severity more than in the control groups, as it is clear that there are statistically significant differences between both groups in the third, fourth, and fifth weeks after the intervention (P = 0.024, 0.037, and 0.007, respectively). Fetal movement frequency increases in the reflexology intervention group more than in the control group, as there are statistically significant differences between both groups in the fourth and fifth weeks after the intervention (P = 0.001, P = 0.000, respectively). Conclusion: Foot reflexology is a useful technique to relieve pregnancy-related constipation and a powerful way to improve fetal movement. Recommendations: Incorporate foot reflexology into routine antenatal care along with routine care provided by nurses to better manage pregnancy-related constipation and improve fetal movement. [ABSTRACT FROM AUTHOR]

Purpose: The current study investigated the direct impact of the COVID-19 lockdown on fetal movements, addressing a critical research gap. While previous research has predominantly examined the effects of lockdown on maternal health and postnatal outcomes, little attention has been paid to the direct consequences on fetal well-being as indicated by their movement profile. Methods: We conducted analysis of movement profiles in 20 healthy fetuses during the COVID-19 pandemic lockdown (third national UK lockdown period between January and March 2021) and compared them with 20 healthy fetuses from pre-covid pregnancies, all at 32 weeks gestation. We controlled for maternal stress, depression, and anxiety. Results: Pregnant mothers during pre-covid compared with those during the COVID-19 lockdown reported similar levels of stress (p = 0.47), depression (p = 0.15), and anxiety (p = 0.07). Their fetuses, however, differed in their movement profiles with mouth movement frequencies significantly higher during COVID-19 lockdown (COVID-19 lockdown: mean of 5.909) compared to pre-Covid pregnancies (mean of 3.308; p = 0.029). Furthermore, controlling for maternal anxiety a regression analysis indicated that frequency of fetal mouth movements (p = 0.017), upper face movements (p = 0.008), and touch movements (p = 0.031) were all significantly higher in fetuses observed during lockdown compared to fetuses before the Covid period. Conclusion: Fetuses show an effect of lockdown independent of maternal anxiety, stress, or depression. These findings contribute to our understanding of fetal development during extraordinary circumstances, raising questions about the potential effects of having to stay indoors during lockdowns. [ABSTRACT FROM AUTHOR]

Haplotype‐based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive single‐gene disorders in proband families. However, a comprehensive exploration of critical factors influencing the assay performance, such as fetal fraction, informative single nucleotide polymorphism (SNP) count, and recombination events, has yet to be performed. It is critical to identify key factors affecting NIPD performance, including its accuracy and success rate, and their impact on clinical diagnostics to guide clinical practice. We conducted a prospective study, recruiting 219 proband families with singleton pregnancies at risk for eight recessive single‐gene disorders (Duchenne muscular dystrophy, spinal muscular atrophy, phenylketonuria, methylmalonic acidemia, hemophilia A, hemophilia B, non‐syndromic hearing loss, and congenital adrenal hyperplasia) at 7–14 weeks of gestation. Haplotype‐based NIPD was performed by evaluating the relative haplotype dosage (RHDO) in maternal circulation, and the results were validated via invasive prenatal diagnosis or newborn follow‐ups. Among the 219 families, the median gestational age at first blood draw was 8+5 weeks. Initial testing succeeded for 190 families and failed for 29 due to low fetal fraction (16), insufficient informative SNPs (9), and homologous recombination near pathogenic variation (4). Among low fetal fraction families, successful testing was achieved for 11 cases after a redraw, while 5 remained inconclusive. Test failures linked to insufficient informative SNPs correlated with linkage disequilibrium near the genes, with F8 and MMUT exhibiting the highest associated failure rates (14.3% and 25%, respectively). Homologous recombination was relatively frequent around the DMD and SMN1 genes (8.8% and 4.8%, respectively) but led to detection failure in only 44.4% (4/9) of such cases. All NIPD results from the 201 successful families were consistent with invasive diagnostic findings or newborn follow‐up. Fetal fraction, informative SNPs count, and homologous recombination are pivotal to NIPD performance. Redrawing blood effectively improves the success rate for low fetal fraction samples. However, informative SNPs count and homologous recombination rates vary significantly across genes, necessitating careful consideration in clinical practice. We have designed an in silico method based on linkage disequilibrium data to predict the number of informative SNPs. This can identify genomic regions where there might be an insufficient number of SNPs, thereby guiding panel design. With these factors properly accounted for, NIPD is highly accurate and reliable. [ABSTRACT FROM AUTHOR]

The article discusses a case of neonatal encephalopathy with subsequent diagnosis of Centronuclear Myopathy Type 1, highlighting the importance of recognizing underlying neuromuscular conditions in infants presenting with hypotonia. Topics include the clinical presentation and management of neonatal encephalopathy, the diagnostic challenges of identifying neuromuscular conditions in neonates, and the implications of genetic testing for prognosis and counseling.

Objective: This study aimed to create core outcome sets (COSs) for use in research studies relating to the awareness and clinical management of reduced fetal movement (RFM). Design: Delphi survey and consensus process. Setting: International. Population: A total of 128 participants (40 parents, 19 researchers and 65 clinicians) from 16 countries. Methods: A systematic literature review was conducted to identify outcomes in studies of interventions relating to the awareness and the clinical management of RFM. Using these outcomes as a preliminary list, stakeholders rated the importance of these outcomes for inclusion in COSs for studies of: (i) awareness of RFM; and (ii) clinical management of RFM. Main outcome measures: Preliminary lists of outcomes were discussed at consensus meetings where two COSs (one for studies of RFM awareness and one for studies of clinical management of RFM). Results: The first round of the Delphi survey was completed by 128 participants, 66% of whom (n = 84) completed all three rounds. Fifty outcomes identified by the systematic review, after multiple definitions were combined, were voted on in round one. Two outcomes were added in round one, and as such 52 outcomes were voted on in two lists in rounds two and three. The COSs for studies of RFM awareness and clinical management are comprised of eight outcomes (four maternal and four neonatal) and 10 outcomes (two maternal and eight neonatal), respectively. Conclusions: These COSs provide researchers with the minimum set of outcomes to be measured and reported in studies relating to the awareness and the clinical management of RFM. [ABSTRACT FROM AUTHOR]