Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele: a single tertiary center experience
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PROVIDER: PRJNA986051 | ENA |
REPOSITORIES: ENA
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Project description:Routine karyotyping combined with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. In addition, if conventional karyotype, CMA detection and WES detection are normal, then further molecular biology methods can be used to rule out disease phenotypes like BWS syndrome. We analyzed the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provide a reference for perinatal management of such cases.
2023-09-27 | GSE235430 | GEO
Project description:Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication
| PRJNA1104671 | ENA
Project description:Chromosomal abnormalities and pregnancy outcomes for fetuses with gastrointestinal tract obstructions
| PRJNA838614 | ENA
Project description:Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
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Project description:IntroductionEarly diagnosis and treatment are keys to improve survival of patients with primary immunodeficiency diseases (PID). The clinical characteristics of these patients in Thailand were not well defined.ObjectiveThis study aimed to determine the clinical characteristics and outcomes of patients with PID in Thailand.MethodsMedical records of PID patients in the past 18 years were reviewed.ResultsSixty-seven children were registered. Antibody deficiencies were the most common PID (52.2%), followed by combined T cell and B cell immunodeficiencies (25.4%), other well-defined immunodeficiency syndromes (11.9%), and phagocytic defects (10.4%). The most common presentations of antibody deficiencies, combined T cell and B cell immunodeficiencies, and phagocytic defects were infection in the upper respiratory tract (74.3%), gastrointestinal tract (82.4%), and skin (85.7%), respectively. The highest mortality rate (52.9%) was found in severe combined immunodeficiency.ConclusionThese results provide clinical features of PID in Thailand. Knowing these features will lead to prompt diagnosis and appropriate management.
| S-EPMC7102384 | biostudies-literature
Project description:Background: Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities and so on. However, the prenatal phenotypes of 16p11.2 copy number variations (CNVs) are still not well described till now. This study aimed to provide an elaborate summary of intrauterine phenotypic features for such genomic disorders. Methods: Twenty prenatal amniotic fluid samples diagnosed with 16p11.2 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed in parallel. The pregnancy outcomes and health conditions after birth for all cases were followed up. Meanwhile, we made a pooled analysis on the prenatal phenotypes for the published cases carrying 16p11.2 CNVs. Results: 20 fetuses (20/20884, 0.10%) with 16p11.2 CNVs were identified: five 16p11.2 BP2-BP3 deletion, ten 16p11.2 BP4-BP5 deletion and five 16p11.2 BP4-BP5 duplication. Abnormal ultrasound findings were recorded in ten participants with 16p11.2 deletions.Various degrees of intrauterine phenotypic features, ranging from normal to abnormal, were observed. No ultrasound abnormalities were observed for all 16p11.2 duplication cases during the pregnancy period. For 16p11.2 deletions, eleven cases terminated their pregnancies. For 16p11.2 duplications, four cases gave birth to healthy neonates except one was lost to follow up. Conclusions: Diverse prenatal phenotypes were presented in 16p11.2 CNVs, ranging from normal to abnormal. For 16p11.2 BP4-BP5 deletion, the most common structural and non-structural abnormalities were the abnormality of the vertebral column or rib and thickened nuchal translucency, respectively. 16p11.2 BP2-BP3 deletion might be closely associated with fetal growth restriction and single umbilical artery. No representative ultrasound findings for 16p11.2 duplication were observed till now. Considering the variable expressivity and incomplete penetrance of 16p11.2 CNVs, long term follow up after birth should be carried out for these cases. We identified 20 fetuses carrying the 16p11.2 microdeletions and microduplications using chromosomal microarray analysis. And diverse prenatal phenotypes and the critical genes involved in the deleted/duplicated regions were described in this study.
2024-04-29 | GSE265911 | GEO
Project description:This study aimed to evaluate the clinical value of copy number variations (CNVs) in fetuses with ultrasonic soft markers. Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent single nucleotide polymorphism (SNP) array analysis. Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. No significant difference was found in the rate of abnormal CNVs among the groups. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.
2020-12-24 | GSE163799 | GEO
Project description:There is conflicting data on the effect of HIV infection as well as antiretroviral therapy (ART) on pregnancy outcome. The objectives of this study were to compare pregnancy outcomes in women with and without HIV infection, and to evaluate the effect of HAART on pregnancy in HIV-infected women.This is a prospective case record analysis of 212 HIV-infected women delivering between 2002 and 2015, in a tertiary health care center in India. The pregnancy outcome in HIV-infected women was compared to 238 HIV-uninfected controls. Women received ART for prevention of mother to child transmission as per protocol which varied during the period of study. Effect of use of ART on preterm birth (PTB) and intrauterine growth restriction (IUGR) was analyzed.HIV-infected women were more likely to have PTB, IUGR, and anemia (9.4%, 9.9%, 5.2%) compared to uninfected women (7.6%, 5%, 3.8%), this did not reach statistical significance (P-value = >0.05). The incidence of PIH, diabetes mellitus and intrahepatic cholestasis of pregnancy was similar in both groups. Mean birth weight was significantly lower in neonates of HIV-infected women (2593.60±499g) than HIV-uninfected women (2919±459g) [P-value=0.001]. neonatal intensive care unit admissions were also significantly higher in infants born to HIV-infected women (P-value=0.002). HIV-infected women on ART had decreased incidence of PTB and IUGR.Good antenatal care and multidisciplinary team approach can optimize pregnancy outcomes in HIV-infected women.
| S-EPMC5547228 | biostudies-other
Project description:The phenotypes of Xp22.33 or Yp11.32 microdeletions containing short-stature homeobox (SHOX) gene have been extensively described in adults and children, however, few have been reported in prenatal fetuses. We analyzed the prenatal ultrasound phenotype and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletion containing SHOX gene to improve the understanding, diagnosis, and monitoring of the disease in the fetal period.
2023-01-24 | GSE223242 | GEO
Project description:BackgroundPowassan virus (POWV) is an emerging arthropod-borne flavivirus, transmitted by Ixodes spp. ticks, which has been associated with neuroinvasive disease and poor outcomes.MethodsA retrospective study was conducted at Mayo Clinic from 2013 to 2022. We included clinical and epidemiologic data of probable and confirmed neuroinvasive POWV cases.ResultsSixteen patients with neuroinvasive POWV were identified; their median age was 63.2 years, and 62.5% were male. Six patients presented with rhombencephalitis, 4 with isolated meningitis, 3 with meningoencephalitis, 2 with meningoencephalomyelitis, and 1 with opsoclonus myoclonus syndrome. A median time of 18 days was observed between symptom onset and diagnosis. Cerebrospinal fluid analysis showed lymphocytic pleocytosis with elevated protein and normal glucose in the majority of patients. Death occurred within 90 days in 3 patients (18.8%), and residual neurologic deficits were seen in 8 survivors (72.7%).ConclusionsTo our knowledge, this is the largest case series of patients with neuroinvasive POWV infection. We highlight the importance of a high clinical suspicion among patients who live in or travel to high-risk areas during the spring to fall months. Our data show high morbidity and mortality rates among patients with neuroinvasive disease.
| S-EPMC10810704 | biostudies-literature