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Prenatal diagnosis of fetal intraabdominal extralobar pulmonary sequestration: a 12-year 3-center experience in China.

ABSTRACT: To provide useful information for diagnosing and predicting fetal intraabdominal extralobar pulmonary sequestration (IEPS), a retrospective review of diagnostic approaches was conducted. Ultrasonography was performed serially in 21 fetuses with IEPS from 2005 to 2017. Prenatal sonographic features, treatment, and outcomes of each case were evaluated and collected. These cases of IEPS were also compared to 43 cases previously reported by other researchers from 1986 to 2017. Of the 21 sonographic features, 14 (67%) were hyperechoic, 21 (100%) were well circumscribed, and 17 (81%) depicted a mass that shifted with fetal breaths/hiccups non-synchronized with adjacent organs (sliding sign). Feeding arteries were detected prenatally in 18 patients (86%). The lesion volume was 10.17 ± 4.66 cm3, the congenital cystic adenomatoid malformation volume ratio and cardiothoracic ratio were in normal range. The gestational age at diagnosis, location and echotexture of the lesion, and rate of surgical treatment were similar to previous studies, but with a significantly higher rate of detected feeding arteries (P < 0.01), and associated anomalies (P < 0.01). All infants who underwent surgery after birth had satisfactory outcomes. The sliding sign and feeding artery are essential features of IEPS in prenatal diagnosis.

SUBMITTER: Xu G

PROVIDER: S-EPMC6353922 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.

Project description:BackgroundThis study summarizes the results of prenatal diagnosis due to a history of de novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10-year period.MethodsWe sorted all cases of de novo mutations from a pool of 2,260 pregnancies for which prenatal molecular diagnosis was applied, between the years 2008 and 2017. We identified 122 molecular prenatal diagnosis performed for de novo mutations, in 90 women.ResultsWhile the total number of yearly prenatal diagnoses stayed stable, a linear increase was detected in the number of cases for which the procedure was done due to a previous de novo mutation: from 3 cases in 2008 to 24 cases in 2017. The most common diseases were Rett syndrome (19), neurofibromatosis Type-1 (12) and Tuberous sclerosis (5). Recurrence occurred in 3 of the 90 women (3.3%) and hotspot mutations were identified in two genes accounting for 11 cases. We did not find a difference in paternal age at first occurrence of the de novo mutation between the study group and the control group.ConclusionThe large increase in the annual number of prenatal diagnoses performed due to a previous pregnancy with a de novo mutation reflects the growing understanding regarding the role of these mutations in the pathogenesis of genetic diseases.

| S-EPMC6465671 | biostudies-literature

Fetal genetic findings for fetal growth restriction without structural malformations at a territory referral center: 10-year experience

Project description:We retrospectively reviewed 488 fetuses who diagnosed with FGR and without structural malformation during a 10-year period. A total of 19 (3.9%) cases of chromosomal anomalies were detected, including 11 cases of numerical abnormalities, 5 of structural abnormalities, and 3 of mosaicism. We classified the cohort into cases diagnosed at ≤24, 25-28, 29-32, and > 32 weeks of gestation according to the onset gestations; isolated FGR, FGR with soft markers, and FGR with nonstructural anomalies according to different ultrasound findings; high and low-risk maternal serum screening (MSS) groups based on the MSS results. The results suggested that abnormal karyotypes were more frequently detected in cases diagnosed at ≤24 weeks (7.2%), cases with soft markers (5.2%), and cases with high-risk MSS (7.5%) than in other groups within each classification. Among cases with normal karyotype, additional 4.2% of clinically relevant aberrations were detected by SNP array. The incremental yields in cases diagnosed at ≤24 weeks (6.5%), cases with soft markers (9.5%), and cases with high-risk MSS (12.0%) were higher than those in other groups within each classification. We concluded that fetal chromosomal aberration is an important etiology for FGR without structural malformation, and plays an important role in pregnancies decision-making. SNP array improves the detection of genetic anomalies especially in fetuses diagnosed at ≤24 weeks, fetuses with soft makers, and fetuses with high risk of MSS.

2022-09-20 | GSE211577 | GEO

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

Project description:PURPOSE: Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses. METHODS: 54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for achondroplasia (ACH), hypochondroplasia (HCH), and type I and type II tanathophoric dysplasia (TD). RESULTS: 2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. Neither ACH nor HCH occurred in sporadic cases. CONCLUSIONS: Molecular studies in ongoing pregnancies are indicated in cases with an affected parent, a family history with positive molecular studies (maternal anxiety), and when the US finding demonstrates micromelia with a hypoplastic thorax. A protocol for tissues of abortuses should include an X-ray, pathologic anatomy, and genetic studies.

| S-EPMC2767486 | biostudies-literature

Prenatal diagnosis of tetralogy of Fallot with pulmonary atresia using: Fetal Intelligent Navigation Echocardiography (FINE).

Project description:Tetralogy of Fallot with pulmonary atresia, a severe form of tetralogy of Fallot, is characterized by the absence of flow from the right ventricle to the pulmonary arteries. This cardiac abnormality is challenging and complex due to its many different anatomic variants. The main source of variability is the pulmonary artery anatomy, ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries replaced by major aorto-pulmonary collateral arteries (MAPCAs) that provide all of the pulmonary blood flow. Since the four-chamber view is usually normal on prenatal sonography, the diagnosis may be missed unless additional cardiac views are studied. Fetal Intelligent Navigation Echocardiography (FINE) is a novel method developed recently that allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying "intelligent navigation" technology to spatiotemporal image correlation volume datasets. We report herein for the first time, two different cases of tetralogy of Fallot with pulmonary atresia having variable sources of pulmonary blood flow in which the prenatal diagnosis was made successfully using the FINE method. Virtual Intelligent Sonographer Assistance (VIS-Assistance®) and automatic labeling (both features of FINE) were very helpful in making such diagnosis.

| S-EPMC6334643 | biostudies-literature

Intrapericardial extralobar pulmonary sequestration presenting as a prenatal intrathoracic mass.

Project description:An intrathoracic mass, which persisted during the remaining pregnancy, was first seen during routine ultrasound examination performed at 20 weeks gestation. After birth, the child was asymptomatic. Echocardiography showed the mass to be located intrapericardially. The mass was electively resected via sternotomy 3 weeks after the birth. Microscopic examination showed normal lung tissue surrounded by pleura corresponding to the diagnosis of extralobar pulmonary sequestration. To the authors' knowledge, this is the earliest described detection of such a lesion. Furthermore, this article reports the unique finding of a feeding vessel from the right pulmonary artery.

| S-EPMC2525846 | biostudies-other

Permanent epicardial pacing in neonates and infants less than 1 year old: 12-year experience at a single center.

Project description:BackgroundPermanent epicardial pacing is the primary choice for neonates and infants with bradyarrhythmia. We reviewed mid-term outcomes after epicardial permanent pacemaker (EPPM) implantation in this age group.MethodsFrom Dec 1, 2008 to Dec 1, 2019, children who underwent EPPM implantation within the first year of life were included in our study. Patients were followed up for as long as 12 years, until Jun 11, 2021, for all-cause mortality and pacemaker reoperation. Kaplan-Meier and log-rank tests were used for analysis.ResultsOf 31 consecutive patients [18 boys (58.1%) and 2 neonates (6.5%)] included in this study, 30 (96.8%) were discharged alive and assessed at a median follow-up of 3.9 years [interquartile range (IQR) 4.7]. The median age and weight of the patients were 156 days (IQR 217) and 5.3 kg (IQR 3.5), respectively, at the time of their operation. Twenty-five (80.6%) patients had congenital heart disease, and the main indication for pacing was postoperative atrioventricular block (AVB) in 21 (67.7%) patients. During follow-up, 3 (9.7%) patients died and there were a total of 9 pacing lead failures in 7 (22.6%) patients. The median longevity of leads (unipolar steroid-eluting) was 2.9 years (IQR 3.6). Freedom from lead reoperation was 90.3%, 72.0%, 65.5% and 49.1% at 1, 3, 5, and 8 years, respectively. The median longevity of the pacing generators was 3.3 years (IQR 2.8). Freedom from generator reoperation was 90.3%, 75.6%, 52.4% and 43.6% at 1, 3, 5 and 6 years, respectively.ConclusionsThe mid-term outcome of EPPM implantation in neonates and infants was acceptable. Neonates and infants with EPPM implants face the risk of repeated reoperations and all-cause death. A patient's prognosis can depend on regular follow-up, type of pacing lead and the presence of congenital heart malformations, especially complex congenital heart disease.

| S-EPMC9253933 | biostudies-literature

Discrepancies in Lymphoma Diagnosis Over the Years: A 13-Year Experience in a Tertiary Center.

Project description:In the past, accurate diagnosis of lymphoma was challenging since there were multiple competing classification systems that caused confusion and debate. After establishment of the World Health Organization lymphoma classification, lymphomas still remain a diagnostic challenge among general pathologists. The purpose of this study was to examine whether the discordance among centers has declined over the years.All lymphoma or lymphoma-suspected specimens that had been sent to the Cerrahpaşa Faculty of Medicine between 2000 and 2013 for a second opinion were deemed eligible. To evaluate the change in the discrepancy rates over time we compared the rates of revision between 2000-2008 and 2009-2013.A total of 1824 patients in two time periods met the inclusion criteria. The overall discordance rate was 45.6%. This rate showed significant variations between different histologic subtypes. Discordance rates also varied significantly over time and decreased from 51.3% in 2000-2008 to 38.7% in 2009-2013 (p<.0001).The high discordance rate, especially in the second period, indicates the need for easily accessible hematopathology consultation centers.

| S-EPMC5451693 | biostudies-other

Prenatal diagnosis of fetal encephalomalacia after maternal diabetic ketoacidosis.

Project description:Introduction Encephalomalacia in a developing fetus is a rare and devastating neurological finding on radiologic imaging. Maternal diabetic ketoacidosis (DKA) can lead to metabolic and vascular derangements which can cause fetal encephalomalacia. Case We report the case of a 27-year-old pregnant woman with White's Class C diabetes mellitus who presented in the 25th week of gestation with DKA. Four weeks after her discharge, marked fetal cerebral ventriculomegaly was noted on ultrasound. A subsequent fetal magnetic resonance imaging (MRI) demonstrated extensive, symmetric cystic encephalomalacia, primarily involving both cerebral hemispheres. The pregnancy was continued with close fetal and maternal surveillance. The patient underwent a repeat cesarean delivery in her 37th week. The infant had a 1 month neonatal intensive care unit stay with care rendered by a multiple disciplinary team of pediatric subspecialists. The postnatal course was complicated by global hypotonia, poor feeding, delayed development and ultimately required anticonvulsants for recurrent seizures. He died at the age of 9 months from aspiration during a seizure. Discussion Although the maternal mortality from DKA has declined, DKA still confers significant neurological fetal morbidity to its survivors.

| S-EPMC4239142 | biostudies-other

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundacion Jimenez Diaz.

Project description:BACKGROUND:Fundación Jiménez Díaz (FJD) is a reference center for genetic diagnosis of Gaucher disease (GD) in Spain. Genetic analyses of acid ?-glucosidase (GBA) gene using different techniques were performed to search for new mutations, in addition to those previously and most frequently found in the Spanish population. Additionally, the study of the chitotriosidase (CHIT1) gene was used to assess the inflammatory status of patients in the follow-up of enzyme replacement therapy (ERT). We present the genetic data gathered during the last nine years at FJD. METHODS:Blood samples from patients with suspected GD were collected for enzymatic and genetic analyses. The genetic analysis was performed on DNA from 124 unrelated suspected cases and 57 relatives from 2007 to 2015, starting with a mutational screening kit, followed by Sanger sequencing of the entire gene and other techniques to look for deletions. CHIT1 was also studied to assess the reliability of this biomarker. RESULTS:In 46 out of 93 GD patients (49.5%) the two mutant alleles were found. We detected 21 different mutations. The most common mutation was N370S (c.126A > G; p.Asp409Ser current nomenclature) (in 50.5% of patients), followed by L444P (c.1448T > C; p.Leu483Pro current nomenclature) (in 24.7%). The most common heterozygous compound genotype observed (18.3%) was c.1226A > G/c.1448T > C (N370S/L444P). Two novel mutations were found (del. Ex.4-11 and c.1296G > T; pW432C), as well as p.S146L, only once previously reported. Two patients showed the homozygous state for the duplication of CHIT1. CONCLUSION:N370S and L444P are the most common mutations and other mutations associated to Parkinson's disease have been observed. This should be taken into account in the genetic counseling of GD patients.

| S-EPMC5109262 | biostudies-literature

Echocardiographic diagnosis of anomalous pulmonary venous connections: Experience of 84 cases from 1 medical center.

Project description:We sought to evaluate the value of echocardiography in the diagnosis of different types of anomalous pulmonary venous connections (APVCs) and summarize the diagnostic experience. A total of 84 patients with APVC were confirmed by surgery (n = 82) or computerized tomography angiography (CTA) (n = 2) in the last 6 years (2008-2014) at the Wuhan Union Hospital. The total anomalous pulmonary venous connection (TAPVC) cases account for 60.7%, and partial anomalous pulmonary venous connection (PAPVC) cases account for 39.3% among the 84 cases that were identified. The 51 TAPVCs were classified by the Darling method-type I (41.1%), type II (52.9%), type III (1.9%), and type IV (3.9%). The most common drainage path of type I was common pulmonary drainage to the left innominate vein via vertical vein, and the coronary sinus drainage was the most common path in type II. Compared with surgical or CTA results, the sensitivity and specificity of echocardiography in the diagnosis of APVCs were 97.6% and 99.9%, respectively. The echocardiography misdiagnoses were mainly seen in PAPVCs. Of the TAPVCs and PAPVCs correctly diagnosed by echocardiography, the diagnostic accuracy of classification were 94% and 100%, respectively. Echocardiography has specific value in diagnosing and classification of APVC, especially the supracardiac and cardiac TAPVCs. Multiplane scan views and color Doppler improve the display of drainage pathway.

| S-EPMC5591171 | biostudies-literature

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