Antenatal Diagnosis of Ethmoidal Encephalocele in a Monochorionic Diamniotic Twin Pregnancy: The Role of Three-dimensional Ultrasound with Crystal Vue Rendering Mode
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SUBMITTER: Malho A
PROVIDER: S-EPMC9272710 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundPlacental anastomoses in monochorionic diamniotic (MCDA) twin pregnancy have a major impact on fetal circulation. This study was designed to define reference ranges of cardiac and vascular Doppler indices in MCDA twin pregnancies.MethodsThis cross-sectional study included 442 uncomplicated MCDA twin fetuses undergoing Doppler ultrasonography at 18-35 weeks of gestation. Left and right myocardial performance index (LV-MPI, RV-MPI), E/A ratio of atrioventricular valves, pulsatility indices of umbilical artery, middle cerebral artery (MCA), and ductus venosus (DV), cerebroplacental ratio, peak systolic velocity of MCA, S/a ratio of DV, and early diastolic filling time of ductus venosus (DV-E) were evaluated under standardized settings. The equation models between Doppler indices and gestational age (GA) were fitted. After adjustment for GA, the correlations between MPI and fetal heart rate (FHR), and between MPI and DV indices were analyzed.ResultsEstimated centiles of Doppler indices were derived as a function of GA, being distinct in values from those of singletons. There was no correlation between GA-adjusted MPI and FHR. DV-E was inversely related to LV-MPI.ConclusionsMCDA twins showed significant changes in some Doppler indices throughout gestation with quantitative differences from singletons, emphasizing the importance of MC twin-specific reference values for clinical application. Further adjustment of MPI for FHR was unnecessary. DV-E is a vascular index indirectly representing fetal diastolic function.
| S-EPMC8630902 | biostudies-literature
Project description:Monochorionic monoamniotic pregnancy are considered high risk gestations and the fetal outcome is at times unpredictable. Correct diagnosis and counselling are extremely important, especially regarding the risk of unexpected fetal demise. We present the rare case of a monochorionic monoamniotic twin pregnancy with early identification of cord entanglement and the characteristic ultrasound findings in the first trimester of pregnancy.
| S-EPMC8000087 | biostudies-literature
Project description:BackgroundSelective fetal restriction growth (sFGR) is one of the common diseases of monochorionic diamniotic (MCDA) twin pregnancies, resulting in many adverse outcomes. At present, second trimester ultrasonography is widely used in the prenatal diagnosis of sFGR, but the diagnostic effectiveness is still uncertain. The aim of this study is to assess the diagnostic accuracy of second trimester Doppler ultrasound measurements for sFGR.MethodsA retrospective study included 280 pregnant women (118 with and 162 without sFGR) with MCDA pregnancies was conducted in the fetal medicine center from Leiden University Medical Center from January 2008 to December 2013. The women participating had already undergone an ultrasound examination in the second trimester. The postnatal criteria of sFGR was a single birth weight (BW) < 3 rd percentile in a twin, or birth weight discordance (BWD)≥25% between two twins, while the BW of the smaller twin < 10th percentile. Early prenatal diagnosis of sFGR was defined as a single EFW < 3 rd percentile in a twin, or at least 2 of the following 4 parameters must be met (fetal weight of one fetus < 10th percentile, AC of one fetus <10th percentile, EFW discordance≥25%, UA pulsatility index (PI) of the smaller fetus > 95th percentile). According to the diagnosis of sFGR after birth, we evaluate diagnostic effectiveness of Doppler ultrasound in the second trimester for sFGR.ResultsOf these 280 participants, the mean age was 32.06 ± 4.76 years. About 43.9% of pregnant women were primiparas. The ability of second trimester Doppler ultrasound to accurately diagnosed sFGR is 75.4%, missed diagnosis rate and the misdiagnosis rate were 24.6% and 10.5% respectively. The ROC curve indicated that the combination of AC discordance, EFW discordance, and small fetal UA blood flow was the best diagnostic indicator of sFGR in MCDA pregnancy with the AUC was 0.882 (95%CI, 0.839-0.926).ConclusionsSecond trimester Doppler and ultrasound measurements is an effective method for early prenatal diagnosis of sFGR. The combined indicator of AC discordance, EFW discordance, and the small fetal UA blood flow reaches highest diagnostic value.
| S-EPMC8351928 | biostudies-literature
Project description:In patients with bloody amniotic fluid, expectant management for chronic abruption is difficult and should not be applied except after a 48-h waiting period required for administration of steroids.
| S-EPMC4831373 | biostudies-other
Project description:Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, which is difficult to diagnose prenatally. We report the diagnosis of SGBS in dichorionic-diamniotic twin pregnancies in the first trimester by ultrasound and genetic testing. The affected fetus developed polyhydramnios and the cervical length of the mother decreased significantly. To save the unaffected twin, a selective feticide of the affected fetus was performed. Finally, the patient underwent preterm caesarean section due to premature rupture of membranes in the dead twin, and also intrauterine infection. While SGBS has been reported, this was the first case in a multiple pregnancy, with possible consequences for the healthy twin. In conclusion, SGBS is a rare condition, which should be considered in the differential diagnosis of prenatal overgrowth syndromes and associated malformation.
| S-EPMC7931115 | biostudies-literature
Project description:BackgroundSeeking an optimal time point for ultrasound examination is important for the diagnosis of late selective intrauterine growth restriction (sIUGR) at birth in monochorionic diamniotic (MCDA) twin pregnancies. We aimed to assess the role of ultrasound characteristics at 19-24 weeks as predictive tools for late sIUGR at birth in MCDA twin pregnancies.MethodsWe retrospectively recruited 32 sIUGR and 56 normal patients with MCDA twin pregnancies. Ultrasound indexes of these included subjects at 19-24 weeks, including the middle cerebral artery peak systolic velocity (MCA-PSV), umbilical artery pulsatility index (UA-PI), middle cerebral artery pulsatility index (MCA-PI), and cerebroplacental ratio (CPR) were assessed. Receiver operating characteristic (ROC) curves were used to ascertain the predictive value of ultrasound characteristics discrepancy for such complications, and the relationship between the ultrasound characteristics and sIUGR was assessed by a logistic regression analysis.ResultsDifferences were found in the MCA-PI, UA-PI, and CPR discordances between the normal MCDA and sIUGR subjects. CPR discordance was the most effective characteristic for predicting sIUGR [area under the ROC curve (AUC) =0.883; 95% CI: 0.795-0.948], followed by UA-PI discordance (AUC =0.772; 95% CI: 0.685-0.829), and MCA-PI discordance (AUC =0.746; 95% CI: 0.681-0.823), respectively. Additionally, the optimal cutoff value of CPR discordance was 21.65, and the corresponding sensitivity and specificity were 0.750 and 0.929, respectively. The correlation analysis revealed that gestational age (GA) at ultrasound scan but not at delivery was significantly correlated with the MCA-PSV (r=0.55, P<0.01), UA-PI (r=0.55, P<0.01), MCA-PI (r=0.49, P<0.01), and CPR (r=0.55, P<0.01) in sIUGR, while GA at both ultrasound scan and birth was significantly correlated with MCA-PSV (r=0.65, P<0.01), UA-PI (r=0.49, P<0.01), MCA-PI (r=0.48, P<0.01), and CPR (r=0.63, P<0.01) in normal MCDA.ConclusionsIncreased MCA-PI, UA-PI, and CPR discordances were found in fetuses with sIUGR. CPR discordance could serve as a predictive index for sIUGR. An early ultrasound examination may be more accurate than biochemical modality for sIUGR prediction.
| S-EPMC9372677 | biostudies-literature
Project description:IntroductionThe analysis of patients' satisfaction with healthcare is recognised as being useful in the evaluation of health outcomes and perceived quality of care. Little is known, however, about how the psychological status of women who experience perinatal complications may affect their perceived satisfaction with care.MethodsWe assessed healthcare satisfaction in 52 women who had undergone intrauterine surgery during a complicated monochorionic twin pregnancy and examined the influence that fetal loss and sociodemographic, clinical, and psychological factors had on the degree of satisfaction. Data were gathered in an individual interview and through the administration of the Medical Patient Satisfaction Questionnaire, Beck Depression Inventory, and State-Trait Anxiety Inventory. Relationships between variables were analysed using a chi-square test, Spearman's rho, Student's t test, and the Mann-Whitney U test, in accordance with the metric nature of the variables and the assumptions fulfilled.ResultsAge and level of education were not associated with the degree of healthcare satisfaction. Negative but non-significant correlations were observed between the level of satisfaction and symptoms of anxiety and depression. Satisfaction with healthcare was high in the sample as a whole, although it was significantly higher among women who had not experienced fetal loss. There were no differences in satisfaction with services involving direct contact with medical staff, whereas satisfaction with indirect services was lower among women who had experienced perinatal loss.ConclusionsDue to the unique characteristics of this population, specialised care teams of both professional healthcare and indirect services are needed. Although administrative aspects of healthcare are regarded as being of secondary importance, this may not be the case with more vulnerable populations.
| S-EPMC6723400 | biostudies-literature
Project description:ObjectiveThis review aimed to identify guidelines with recommendations applicable to the antenatal management of dichorionic diamniotic twin pregnancies within high-income countries, appraise their methodological quality, and discuss the similarities and variability across guidelines.MethodA systematic literature review of electronic databases was performed. Manual searches of guideline repositories and websites of professional organisations were performed to identify additional guidelines. The protocol for this systematic review was registered on PROSPERO (CRD42021248586, 25 June 2021). AGREE II and AGREE-REX tools were applied to assess the quality of eligible guidelines. A narrative and thematic synthesis described and compared the guidelines and their recommendations.ResultsTwenty-four guidelines were included, from which 483 recommendations were identified across 4 international organisations and 12 countries. Guidelines addressed eight themes and recommendations were classified accordingly: chorionicity and dating (103 recommendations), fetal growth (105 recommendations), termination of pregnancy (12 recommendations), fetal death (13 recommendations), fetal anomalies (65 recommendations), antenatal care (65 recommendations), preterm labour (56 recommendations) and birth (54 recommendations). Guidelines showed significant variability in recommendations, with conflicting recommendations regarding non-invasive preterm testing, definitions surrounding selective fetal growth restriction, screening for preterm labour and the timing of birth. Guidelines lacked a focus on standard antenatal management of DCDA twins, management of discordant fetal anomaly and single fetal demise.ConclusionsSpecific guidance for dichorionic diamniotic twins is overall indistinct and access to guidance regarding the antenatal management of these pregnancies is currently difficult. Management of discordant fetal anomaly or single fetal demise needs greater consideration.
| S-EPMC10182673 | biostudies-literature
Project description:BackgroundCraniosynostosis, defined as premature fusion of one or more cranial sutures, affects approximately 1 in every 2000-2500 live births. Sagittal craniosynostosis (CS), the most prevalent form of isolated craniosynostosis, is caused by interplay between genetic and perinatal environmental insults. However, the underlying details remain largely unknown.MethodsThe proband (a female monochorionic twin diagnosed with CS), her healthy co-twin sister and parents were enrolled. Obstetric history was extracted from medical records. Genetic screening was performed by whole exome sequencing (WES) and confirmed by Sanger sequencing. Functional annotation, conservation and structural analysis were predicted in public database. Phenotype data of Axin2 knockout mice was downloaded from The International Mouse Phenotyping Consortium (IMPC, http://www.mousephenotype.org ).ResultsObstetric medical records showed that, except for the shared perinatal risk factors by the twins, the proband suffered additional persistent breech presentation and intrauterine growth restriction. We identified a heterozygous mutation of Axin2 (c.1181G > A, p.R394H, rs200899695) in monochorionic twins and their father, but not in the mother. This mutation is not reported in Asian population and results in replacement of Arg at residue 394 by His (p.R394H). Arg 394 is located at the GSK3β binding domain of Axin2 protein, which is highly conserved across species. The mutation was predicted to be potentially deleterious by in silico analysis. Incomplete penetrance of Axin2 haploinsufficiency was found in female mice.ConclusionsAxin2 (c.1181G > A, p.R394H, rs200899695) mutation confers susceptibility and perinatal risk factors trigger the occurrence of sagittal craniosynostosis. Our findings provide a new evidence for the gene-environment interplay in understanding pathogenesis of craniosynostosis in Chinese population.
| S-EPMC8210395 | biostudies-literature
Project description:The first known documented case of monochorionic-diamniotic twins with Coffin-Siris syndrome is described in this study. This case is notable because of the phenotypic differences between infants despite having identical genomes and causative variants. Also unique to this case is the clinical influence of early diagnosis using precision medicine techniques.
| S-EPMC6824890 | biostudies-literature