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:Pericardial effusions are rarely brought to clinical attention in pregnancy. When present, effusions are typically small, clinically silent, and related to fluid shifts in pregnancy. We present a case of a large pericardial effusion during the third trimester of pregnancy with management considerations for labor and delivery.
| S-EPMC10920116 | biostudies-literature
Project description:BackgroundPrenatal diagnosis of several major congenital anomalies can be achieved in the first trimester of pregnancy.ObjectiveThis study investigates the timing of diagnosis and pregnancy outcome of foetuses and neonates with selected structural anomalies in the Northern Netherlands over a 10-year period when the prenatal screening programme changed significantly, but no first-trimester anatomical screening was implemented.MethodsWe performed a population-based retrospective cohort study with data from the EUROCAT Northern Netherlands database on pregnancies with delivery or termination of pregnancy for fetal anomaly (TOPFA) date between 2010 and 2019. The analysis was restricted to anomalies potentially detectable in the first trimester of pregnancy in at least 50% of cases, based on previously published data. These included: anencephaly, encephalocele, spina bifida, holoprosencephaly, tricuspid/pulmonary valve atresia, hypoplastic left heart, abdominal wall and limb reduction defects, lethal skeletal dysplasia, megacystis, multiple congenital anomalies. The primary outcome was the timing of diagnosis of each structural anomaly. Information on additional investigations, genetic testing and pregnancy outcome (live birth, TOPFA and foetal/neonatal death) was also collected.ResultsA total of 478 foetuses were included; 95.0% (n = 454) of anomalies were detected prenatally and 5.0% (n = 24) postpartum. Among the prenatally detected cases, 31% (n = 141) were diagnosed before 14 weeks of gestation, 65.6% (n = 298) between 14-22 weeks and 3.3% (n = 15) after 22 weeks. Prenatal genetic testing was performed in 80.4% (n = 365) of cases with prenatally diagnosed anomalies, and the results were abnormal in 26% (n = 95). Twenty-one% (n = 102) of pregnancies resulted in live births and 62.8% (n = 300) in TOPFA. Spontaneous death occurred in 15.9% (n = 76) of cases: in-utero (6.1%, n = 29), at delivery (7.7%, n = 37) or in neonatal life (2.1%, n = 10).ConclusionMajor structural anomalies amenable to early diagnosis in the first trimester of pregnancy are mostly diagnosed during the second trimester in the absence of a regulated first-trimester anatomical screening programme in the Netherlands and are associated with TOPFA and spontaneous death, especially in cases with underlying genetic anomalies.
| S-EPMC9796468 | biostudies-literature
Project description:Background Symptomatic Meckel's diverticulum (MD) is easily neglected in the acute abdomen during pregnancy. MD is the most common congenitally anomalous development of the intestines, with an incidence of 2% in the general population, although it is not easily diagnosed because of variable clinical features. Especially when complicated with pregnancy, doctors can easily overlook this disease, which directly threatens maternal and foetal life. Case Presentation We report the case of a 25-year-old at 32 + 2 weeks of gestation complicated with MD volvulus who presented with progressive abdominal pain and finally peritonitis. She underwent exploratory laparotomy and small-bowel resection. The mother and the baby successfully recovered. Conclusions MD-complicated pregnancy is not easily diagnosed. Once highly suspiciously diagnosed, especially with peritonitis, surgery should be arranged, which helps preserve maternal and foetal life.
| S-EPMC9977996 | biostudies-literature
Project description:Intestinal obstruction complicating pregnancy is a surgical emergency associated with a high incidence of morbidity and mortality for both the mother and fetus. This case report discusses the presentation and treatment of a young female in her third trimester of pregnancy at a repeat visit to the emergency department (ED) with right-sided abdominal pain. She was diagnosed with ileal intussusception secondary to a Meckel's diverticulum with associated small bowel obstruction (SBO) seen on computerized tomography (CT) imaging. She underwent surgical reduction of the invaginated bowel and diverticulectomy. Making a diagnosis of intestinal intussusception during pregnancy is particularly difficult because common symptoms of intestinal obstruction such as anorexia, nausea, vomiting and abdominal pain are encountered frequently during a normal pregnancy.1 Diagnosis is often delayed during pregnancy due to physician hesitancy over the radiation risk to the fetus. While the gold standard for diagnosis is a barium enema, it is often identified on CT scan in adults, and it is regularly managed with surgery.2.TopicsIntussusception, small bowel obstruction, pregnancy, Meckel's diverticulum.
| S-EPMC10332542 | biostudies-literature
Project description: Not available
| S-EPMC8099577 | biostudies-literature