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Fetal Diagnostic

Iris Holzer, Peter W Husslein, Dieter Bettelheim, Julia Scheidl, Herbert Kiss, Alex Farr
OBJECTIVE: To assess the value of increased nuchal translucency (NT) at first-trimester screening (FTS) despite the superiority of noninvasive prenatal testing with cell-free DNA (cfDNA) for the detection of fetal aneuploidies. METHODS: Retrospective analysis of all FTS data from 2005-2015 in our department. Only cases with increased NT and euploid karyotype were considered eligible for inclusion. Abnormal findings, diagnostic work-up, and perinatal outcomes were assessed...
March 22, 2019: International Journal of Gynaecology and Obstetrics
Lori A Underhill, Nora Avalos, Richard Tucker, Zheng Zhang, Geralyn Messerlian, Beatrice Lechner
Preterm birth is a leading cause of neonatal mortality in the US and globally, with preterm premature rupture of fetal membranes (PPROM) accounting for one third of preterm births. Currently no predictive diagnostics are available to precisely assess risk and potentially reduce the incidence of PPROM. Bigycan and decorin, the main proteoglycans present in human fetal membranes, are involved in the physiological maturation of fetal membranes as well as in the pathophysiology of preterm birth. The serum protein sex hormone-binding globulin (SHBG) has recently been identified as a predictor of spontaneous preterm birth...
March 21, 2019: Reproductive Sciences
Florina Nedelea, Alina Veduta, Simona Duta, Ana-Maria Vayna, Anca Panaitescu, Gheorghe Peltecu, Hans-Christoph Duba
We present a family in which the first child was diagnosed with dopa-responsive dystonia based on biochemical findings only. Dopa-responsive dystonia is a severe heterogeneous genetic disease. The possibly involved genes are GCH1 and TH. In their second pregnancy, the parents came for genetic counseling and prenatal diagnosis late, at 12 weeks of gestation. Genetic testing in the affected child was performed, but the results were difficult to interpret. The identified mutations were classified as VOUS - variants of unknown clinical significance...
October 2018: Journal of Medicine and Life
Susan C Shelmerdine, Owen J Arthurs, Isobel Gilpin, Wendy Norman, Rod Jones, Andrew M Taylor, Neil J Sebire, Lyn S Chitty
OBJECTIVE: To determine the additional yield from autopsy following prenatal ultrasound and post-mortem magnetic resonance imaging (PMMR) for structural abnormalities. METHOD: PMMR was performed on consecutive fetuses over a six-year period. Prenatal ultrasound and PMMR findings were categorised as concordant, partially concordant or discordant findings. The yield of new and clinically significant information from autopsy was assessed. Diagnostic accuracies for both modalities were calculated, using autopsy as reference standard...
March 20, 2019: Prenatal Diagnosis
Bradley D Holbrook, Suzy Davies, Sandra Cano, Shikhar Shrestha, Lauren L Jantzie, William F Rayburn, Ludmila N Bakhireva, Daniel D Savage
BACKGROUND: The need for earlier recognition of children at risk for neurobehavioral problems associated with prenatal ethanol exposure (PAE) has prompted investigations of biomarkers prognostic for altered fetal development. Here, we examined whether PAE alters the expression of angiogenesis-related proteins and cytokines in human placenta in subjects from an Ethanol, Neurodevelopment, Infant and Child Health prospective cohort. METHODS: PAE was ascertained by screening questionnaires, Time-line Follow-back interviews and a panel of ethanol biomarkers at two study visits...
March 19, 2019: Birth Defects Research
Yang Zhang, Zhidong Zhao, Haihui Ye
Cardiotocography (CTG) is a commonly used technique of electronic fetal monitoring (EFM) for evaluating fetal well-being, which has the disadvantage of lower diagnostic rate caused by subjective factors. To reduce the rate of misdiagnosis and assist obstetricians in making accurate medical decisions, this paper proposed an intelligent assessment approach for analyzing fetal state based on fetal heart rate (FHR) signals. First, the FHR signals from the public database of the Czech Technical University-University Hospital in Brno (CTU-UHB) was preprocessed, and the comprehensive features were extracted...
February 25, 2019: Sheng Wu Yi Xue Gong Cheng Xue za Zhi, Journal of Biomedical Engineering, Shengwu Yixue Gongchengxue Zazhi
Weizeng Zheng, Baohua Li, Yu Zou, Fenlan Lou
OBJECTIVE: The aim of this study was to evaluate the value of MRI in the prenatal diagnosis and classification of cleft palate (CP). METHODS: We collected 94 fetal cases that were suspected of cleft palate with or without cleft lip by prenatal ultrasound (US) and then carried out further MRI to examine the entire body of each fetus within 1 week. The diagnoses resulting from MRI and US examination were compared separately with the final diagnoses obtained from postnatal physical examination or fetal autopsy...
March 18, 2019: European Radiology
Y D Evong, A E Warren, H Mohsin
Background: The crista terminalis is a normal cardiac structure located in the right atrium. It is not usually seen using standard view transthoracic echocardiography techniques, but on occasion, hypertrophy allows for easy visualization of this structure, which can be mistakenly labelled pathologic. Case: We report the first known case of a prominent crista terminalis detected in a fetus. Conclusions: This case confirms the presence of a prominent crista terminalis in a developing fetus, a variant which was exclusively described in the pediatric and adult populations until now...
July 2018: Images in Paediatric Cardiology
Jan Maarten Cobben, Izabela M Krzyzewska, Andrea Venema, Adri N Mul, Abeltje Polstra, Alex V Postma, Robert Smigiel, Karolina Pesz, Jacek Niklinski, Monika A Chomczyk, Peter Henneman, Marcel Mam Mannens
AIM: Fetal alcohol spectrum disorder (FASD) involves prenatal growth delay, impaired facial and CNS development and causes severe clinical, social-economic burdens. Here, we aim to detect DNA-methylation aberrations associated with FASD and potential FASD diagnostic and prognostic biomarkers. PATIENTS & METHODS:  The FASD diagnosis was established according to golden-standard protocols in a discovery and independent replication cohort. Genome-wide differential methylation association and replication analyses were performed...
March 15, 2019: Epigenomics
Cristina Menéndez Hernando, Rocío Chacón Aguilar, Mercedes Fariñas Salto, Rocío Pérez Crespo, Raquel Martin Molina, Rocío Moreno Novillo, María Cabrerizo Ortiz
Fetomaternal transfusion (FMT) is defined by the transfer of fetal blood into the maternal circulation. The incidence of massive FMT is estimated to be approximately 0.2-0.9 % of births. Although a number of etiologies have been associated with FMT, most causes remain unidentified and the pregnancy is usually asymptomatic. The most frequent symptom is the decrease in fetal movements (26 %) in relation to severe anemia. Several diagnostic modalities for FMT are described (Kleihauer stain, flow cytometry). We describe a case of a newborn with chronic anemia secondary to FMT who, after treatment with transfusions of red blood cells, presented volume overload and clinical worsening as a complication...
April 1, 2019: Archivos Argentinos de Pediatría
Dorothy Kim Waller, Ji Yun Tark, A J Agopian, Jitesh Shewale, Cecilia Ganduglia-Cazaban, Adrienne T Hoyt, Angela E Scheuerle, Peter H Langlois
OBJECTIVE: Assess temporal trends in congenital microcephaly. METHODS: We used Texas inpatient discharge diagnoses between 2000 and 2015, restricting to newborns. Between 2000 and 2003, the maximum number of fields for recording diagnostic codes was eight, and between 2004 and 2015 it was 24. Microcephaly was classified into four subgroups based on co-occurring diagnoses: A (Known Causes), B (Other Birth Defects), C (Preterm Birth or Fetal Growth Restriction) and D (Isolated Cases)...
March 12, 2019: Birth Defects Research
Tatiana Flávia Pinheiro-de-Oliveira, Antônio Augusto Fonseca-Júnior, Marcelo Fernandes Camargos, Mateus Laguardia-Nascimento, Silvia Giannattasio-Ferraz, Ana Cláudia Pinto Cottorello, Anapolino Macedo de Oliveira, Aristóteles Góes-Neto, Edel Figueredo Barbosa-Stancioli
Senecavirus A (SVA) belonging to the family Picornaviridae, genus Senecavirus was incidentally isolated in 2002 from the PER.C6 (transformed fetal retinoblast) cell line. However, currently, this virus is associated with vesicular disease in swine and it has been reported in countries such as the United States of America, Canada, China, Thailand and Colombia. In Brazil, the SVA was firstly reported in 2015 in outbreaks of vesicular disease in swine, clinically indistinguishable of Foot-and-mouth disease, a contagious viral disease that generates substantial economic losses...
March 12, 2019: Transboundary and Emerging Diseases
Jara Ben-Nagi, Rabi Odia, Xavier Viñals Gonzalez, Carleen Heath, Dhruti Babariya, Sioban SenGupta, Paul Serhal, Dagan Wells
Background: The exact origin of cell-free DNA found in spent culture media or blastocoel fluid is currently unknown but with the potential to become an improved source of DNA for chromosomal analysis than trophectoderm biopsy samples, it provides a superior representation of the fetal genetic status. However, the genetic material contained within the blastocoel cavity may be more reliable to assessment of embryo euploidy in a clinical context than trophectoderm of cell-free DNA. Case Presentation: This is the first UK case report where all three sources of DNA were analyzed in a clinical setting on 29 th January 2018 at the Centre for Reproductive and Genetic Health, London, leading to an ongoing clinical pregnancy...
January 2019: Journal of Reproduction & Infertility
M Frountzas, C Nikolaou, K Stergios, K Kontzoglou, K Toutouzas, V Pergialiotis
INTRODUCTION: Acute appendicitis is a common and serious situation during pregnancy, because of the increased risk of fetal loss and perforation in the third trimester, as well as a diagnostic difficulty. During recent years laparoscopic approach has been introduced to clinical practice with encouraging results. The purpose of this meta-analysis is to compare the surgical and obstetrical outcomes between laparoscopic and open appendectomy during pregnancy. MATERIALS AND METHODS: MEDLINE, SCOPUS, Clinicaltrials...
March 11, 2019: Annals of the Royal College of Surgeons of England
Ignacio Herraiz, Ana Villalba, Eliam Ajuria, Alba Barasoain, Ana Mendoza, Nazaret Pizarro, David Escribano, Alberto Galindo
Objective To evaluate the impact of cell-free fetal DNA (cfDNA) test on the number of invasive tests carried out in a public hospital that does not include this test in its services. Methods This was a retrospective cohort study in singleton pregnancies with a high risk (>1:270) on the first-trimester screening for aneuploidies. The options of performing an invasive test or a cfDNA test were explained to all women, the latter being especially recommended to those with a 1:50-1:270 risk (Group 1). If the risk was >1:50 (Group 2), or nuchal translucency (NT) was >99th percentile or there were major malformations (Group 3), invasive test was recommended...
March 8, 2019: Journal of Perinatal Medicine
Huafeng Li, Yongli Li, Rui Zhao, Yanli Zhang
Background: We aimed to assess the frequency and structure of chromosomal abnormalities as well as the distribution of the indications of prenatal diagnosis in 4206 cases of high-risk pregnant women. Methods: A retrospective analysis of cytogenetic studies of 4206 pregnant women with indications of amniocentesis, referred to Linyi Women and Children's Hospital, Shandong Province, Linyi, China in 2016-2017, was performed. Among those, 4191 amniotic fluid specimens were successfully extracted and cultured, and received karyotype diagnosis...
January 2019: Iranian Journal of Public Health
(no author information available yet)
Background: Pregnant people have a risk of carrying a fetus affected by a chromosomal anomaly. Prenatal screening is offered to pregnant people to assess their risk. Noninvasive prenatal testing (NIPT) has been introduced clinically, which uses the presence of circulating cell-free fetal DNA in the maternal blood to quantify the risk of a chromosomal anomaly. At the time of writing, NIPT is publicly funded in Ontario for pregnancies at high risk of a chromosomal anomaly. Methods: We completed a health technology assessment, which included an evaluation of clinical benefits and harms, value for money, budget impact, and patient preferences related to NIPT...
2019: Ontario Health Technology Assessment Series
Ka Wang Cheung, Rachel Katie Morris, Mark David Kilby
Congenital bladder neck obstruction (or lower urinary tract obstruction [LUTO]) describes a heterogeneous group of congenital anomalies presenting with similar prenatal ultrasonographic findings of dilated posterior urethra, megacystis, hydronephrosis, oligohydramnios and often with associated renal dysplasia. Untreated LUTO has high rate of perinatal morbidity and mortality from associated pulmonary hypoplasia and early-onset renal failure in infancy. Ultrasonographic features and prospective fetal urinalysis may help in predicting the overall prognosis of congenital LUTO...
January 11, 2019: Best Practice & Research. Clinical Obstetrics & Gynaecology
Nadia Shafei, Mohammad Saeed Hakhamaneshi, Massoud Houshmand, Siavash Gerayeshnejad, Fardin Fathi, Sardar Sharifzadeh
BACKGROUND: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most reliable diagnostic method is invasive techniques have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques. OBJECTIVE: The aim of this study is to evaluate and compare the diagnostic value of two non-invasive diagnostic methods for fetal thalassemia using cell free fetal DNA (cff-DNA) and nucleated RBC (NRBC) in one sampling community...
February 26, 2019: Current Molecular Medicine
Lei Sun, Enfa Zhao, Yajuan Wei, Chunmiao Kang, Baomin Liu
The thickness and ratio of noncompacted and compacted layers of the left ventricular (LV) myocardium in the normal fetus were investigated by fetal echocardiography. We aimed to investigate the compaction process of the LV myocardium during the normal gestation period and provide reference for echocardiographic diagnosis of a fetus with ventricular myocardium noncompaction. A total of 56 pregnant women in the gestational period of 23-30 weeks were included. Complete fetal echocardiography was performed with system ultrasonographic examination to exclude congenital heart malformation or extracardiac malformation...
2019: BioMed Research International
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