Corrigendum to "Prenatal Diagnosis of Cardiac Diverticulum with Pericardial Effusion in the First Trimester of Pregnancy with Resolution after Early Pericardiocentesis".
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ABSTRACT:
SUBMITTER: Garcia Rodriguez R
PROVIDER: S-EPMC5546072 | biostudies-other | 2017
REPOSITORIES: biostudies-other
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Project description:This is the first reported case of fetal pericardial effusion in association with X-linked adrenoleukodystrophy and hypocortisolism from a nonautoimmune cause. Our hypothesis is that in experienced hands and after accurate genetic counseling, isolated pericardial effusion can constitute an indication for a severe metabolic disease.
| S-EPMC4527815 | biostudies-literature
Project description:Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the earliest reported diagnoses of this anomaly to utilize three-dimensional (3D) ultrasonography. Case A nulliparous woman presented at 13 weeks of gestation for first-trimester aneuploidy screening. On two-dimensional (2D) imaging, she was noted to have a fetus with a shortened right upper limb and a malformed right hand with no clearly visualized digits. The anomaly was then further evaluated with both transabdominal and transvaginal 2D and 3D ultrasonography with postprocessing visualization, revealing absent central digits. Neither the patient nor her husband reported any personal or family history of skeletal or other structural malformations. Discussion Fetal limb abnormalities are being encountered at increasingly earlier gestational ages due to improvements in image quality and expanded use of ultrasound in the first trimester. Early identification of fetal limb malformations without a definitive diagnosis or a clear pattern of inheritance can present a challenging clinical scenario. Patients may opt for earlier termination of pregnancy rather than wait for additional information to guide decision-making.
| S-EPMC4794437 | biostudies-other
Project description:Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation.We present a case of second-trimester triploidy diagnosed prenataly at our center. 28-years-old gravida with a first spontaneous pregnancy had early gestational hypertension. Ultrasound examination in 146/7 weeks' gestation revealed asymmetric intrauterine growth retardation. We recommended biochemical maternal serum screening during second trimester of pregnancy (AFP, HCG, uE3). Result of biochemical screening was indication for cytogenetic analysis from amniotic fluid cells and we recommended early amniocentesis in 156/7 weeks' gestation. Result showed abnormal karyotype of the fetus (69,XXX triploidy), and DNA analysis confirmed Type-2 Diginy. Parents decided to terminate this pregnancy, and it was done at 22 weeks' gestation.We emphasize the importance of non-invasive prenatal exminationes-biochemical serum screening during second trimester of pregnancy, and ultrasound examinations in prenatal screening of syndroma Down and other chromosomal abnormalities.
| S-EPMC5511524 | biostudies-other
Project description:To summarize the results of prenatal diagnoses and pregnancy outcomes of fetuses with thickened nuchal fold (TNF) in the second trimester.From 2009 to 2016, we studied 72 pregnant women with fetal nuchal fold (NF) measurements over 5?mm at 14 to 19?+?6 weeks or 6?mm at 20 to 28 weeks of gestation who received prenatal diagnosis. Karyotypes were first used to detect common chromosomal diseases, and then chromosome microarray analysis (CMA) was performed if karyotypes were normal. Prognoses were followed up by documentation in the hospital or over the telephone.In total, 12 fetuses with chromosomal defects, including 5 pathogenic copy number variants (CNVs) were detected. The risk of chromosomal defects when a TNF was associated with structural malformations (SMs) (35.5%) was much greater than that of an isolated TNF (3.7%) and a TNF associated with soft markers (0%). The rate of SMs when the NF measured ?10?mm was greater than that NF measured 5 to 7.9?mm or 8 to 9.9?mm. Totally 27 fetuses had adverse pregnancy outcome.A TNF is not only associated with a high risk of trisomy 21 but also with other chromosomal abnormalities, including pathogenic CNVs. The rates of SMs and adverse outcomes increase when the NF thickness increases.
| S-EPMC6257687 | biostudies-literature
Project description: Not available
| S-EPMC5686929 | biostudies-literature
Project description:BackgroundWe evaluated malignancy according to the characteristics of pericardial fluid in symptomatic Japanese patients undergoing pericardiocentesis and computed tomography (CT).MethodsThis was a retrospective, single-center, observational study of 125 symptomatic patients undergoing pericardiocentesis. The patients were classified into two groups: a malignancy group and a non-malignancy group, according to the primary disease and cytology of the pericardial effusion (PE). We compared the pericardial fluid sample and CT measurements between both groups.ResultsAll patients were diagnosed as having exudative PE by Light's criteria. PE with malignant cells was demonstrated in 76.8% of the malignancy group patients. Pericardial to serum lactate dehydrogenase (LDH) ratio > 0.6, as one of Light's criteria, was associated with malignancy (p = 0.017). Lower serum brain natriuretic peptide (BNP) concentration was also associated with malignancy (BNP: 126.9 ± 89.8 pg/ml vs 409.2 ± 97.7 pg/ml, malignancy vs non-malignancy groups, respectively; p = 0.037). A significant difference was observed in pericardial fluid glucose level between the malignancy and non-malignancy groups (pericardial fluid glucose: 78.24 ± 48.29 mg/dl vs 98.41 ± 44.85, respectively; p = 0.048). Moreover, CT attenuation values (Hounsfield units (HU)) tended to be higher in the malignancy group vs the non-malignancy group (22.7 [interquartile range (IQR), 17.4-26.0] vs 17.4 [IQR, 13.7-26.4], respectively; p = 0.08). The sensitivity and specificity of pericardial fluid glucose level ≤ 70 mg/dl and CT attenuation values > 20 HU were 40.9% and 89.6%, respectively, in the malignancy group. The positive- and negative predictive values of pericardial fluid glucose level ≤ 70 mg/dl and CT attenuation values > 20 HU were 85.7% and 50.0%, respectively, in the malignancy group. Pericardial fluid glucose level ≤ 70 mg/dl and CT attenuation values > 20 HU were cutoff values associated with malignancy (p = 0.012).ConclusionsLower pericardial fluid glucose level with higher CT attenuation values may suggest malignancy-related PE.
| S-EPMC8176742 | biostudies-literature
Project description:VACTERL association (OMIM 192350) is a non-random combination of multiple congenital malformations including vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies. The wide spectrum of defects suggests the occurrence of defective development during early embryogenesis. The authors report a case of a complex polymalformative association detected by ultrasound in the first trimester of pregnancy. The ensuing fetal study revealed the presence of vertebral, anorectal, renal and limb anomalies and therefore was considered a case of VACTERL association. This complex association generally entails a poor prognosis. Its early detection allows discussion of management options, including medical termination of pregnancy.
| S-EPMC3981235 | biostudies-literature
Project description:Background: Increased nuchal translucency (NT) is associated with aneuploidy. When the karyotype is normal, fetuses are still at risk for structural anomalies and genetic syndromes. Our study researched the diagnostic yield of prenatal microarray in a cohort of fetuses with isolated increased NT (defined as NT ≥ 3.5 mm) and questioned whether prenatal microarray is a useful tool in determining the adverse outcomes of the pregnancy. Materials and Methods: A prospective study was performed, in which 166 women, pregnant with a fetus with isolated increased NT (ranging from 3.5 to 14.3 mm with a mean of 5.4 mm) were offered karyotyping and subsequent prenatal microarray when karyotype was normal. Additionally, all ongoing pregnancies of fetuses with normal karyotype were followed up with regard to postnatal outcome. The follow-up time after birth was maximally 4 years. Results: Totally, 149 of 166 women opted for prenatal testing. Seventy-seven fetuses showed normal karyotype (52%). Totally, 73 of 77 fetuses with normal karyotype did not show additional anomalies on an early first trimester ultrasound. Totally, 40 of 73 fetuses received prenatal microarray of whom 3 fetuses had an abnormal microarray result: two pathogenic findings (2/40) and one incidental carrier finding. In 73 fetuses with an isolated increased NT, 21 pregnancies showed abnormal postnatal outcome (21/73, 28.8%), 29 had a normal outcome (29/73, 40%), and 23 were lost to follow-up (23/73, 31.5%). Seven out of 73 live-born children showed an adverse outcome (9.6%). Conclusions: Prenatal microarray in fetuses with isolated increased NT had a 5% (2/40) increased diagnostic yield compared to conventional karyotyping. Even with a normal microarray, fetuses with an isolated increased NT had a 28.8% risk of either pregnancy loss or an affected child.
| S-EPMC8558347 | biostudies-literature
Project description:Diagnosis of tuberculous pericarditis remains a challenge. We aimed in this study to evaluate the diagnostic value of T-SPOT.TB on pericardial effusion for diagnosis of tuberculous pericarditis. Patients with suspected tuberculous pericarditis were enrolled consecutively between August 2011 and December 2015. T-SPOT.TB was performed on both pericardial effusion mononuclear cells (PEMCs)and peripheral blood mononuclear cells (PBMCs). Sensitivity, specificity, predictive value (PV), and likelihood ratio (LR) of T-SPOT.TB on PEMCs and PBMCs were analyzed. Among the 75 patients enrolled, 24 patients (32%) were diagnosed with tuberculous pericarditis, 38 patients (51%) with nontuberculous pericarditis, and 13 patients (17%) were clinically indeterminate and were excluded from the final analysis. The sensitivity, specificity, positive PV (PPV), negative PV (NPV), positive LR (LR+), and negative LR (LR-) of T-SPOT.TB on PEMCs was 92%,92%,88%,95%,11.61, and 0.09, respectively, compared to 83%, 95%, 91%, 90%,15.83, and 0.18, respectively of T-SPOT.TB on PBMCs. In patients with tuberculous pericarditis, the median frequencies of spot-forming cells (SFCs) of T-SPOT.TB on PEMCs and PBMCs was 172SFCs/106MCs (IQR 39~486), and 66 SFCs/106MCs (IQR 24~526), respectively, but the difference was not statistically significant (P = 0.183). T-SPOT.TB on PEMCs appeared to be a valuable and rapid diagnostic method for diagnosis of tuberculous pericarditis with high sensitivity and specificity.
| S-EPMC5068772 | biostudies-literature
Project description:Extensive genome analysis of pregnancy loss products by genome haplarithmisis. Pregnancy loss (PL) is the primary pregnancy complication, mostly caused by chromosomal abnormalities of the conceptus. However, the nature and prevalence of these abnormalities and the allocation of (ab)normal cells in embryonic and placental compartments during intrauterine development remains elusive. We analyzed 1,745 spontaneous PLs and found that ~50% were karyotypically normal. We applied genome haplarithmisis to 91 PL families with normal karyotypes, following whole-genome genotypes of the parents as well as of the extraembryonic mesoderm (EM) and chorionic villi (CV), representing embryonic and placental cells, of the product of conception (POC), which allowed characterizing genomic landscape of both lineages. 36.4% of these PLs have chromosomal aberrations not previously detected by karyotyping. In contrast to viable pregnancies where mosaic chromosomal abnormalities are often restricted to the CV, we find that in spontaneous abortions, the situation is reversed with a higher degree of mosaic chromosomal imbalances in EM rather than CV.
2023-10-05 | GSE228149 | GEO