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Fetal Diagnostic

Francesca Gaccioli, Ulla Sovio, Emma Cook, Martin Hund, D Stephen Charnock-Jones, Gordon C S Smith
BACKGROUND: Fetal growth restriction is a major determinant of perinatal morbidity and mortality. This condition has no gold standard definition, but a widely used proxy is delivery of a small for gestational age infant (<10th percentile) combined with an adverse pregnancy outcome. Effective screening for fetal growth restriction is an area of unmet clinical need. We aimed to determine the diagnostic effectiveness of a combination of ultrasonic fetal biometry and measurement of the ratio of soluble fms-like tyrosine kinase receptor 1 (sFLT1) to placental growth factor (PlGF) in predicting adverse pregnancy outcomes associated with delivery of a small for gestational age infant...
August 2018: Lancet Child & Adolescent Health
Nathan R Blue, Meghan E Beddow, Mariam Savabi, Vivek R Katukuri, Conrad R Chao
BACKGROUND: The fetal growth standard in widest use was published by Hadlock more than 25 years ago and was derived from a small, homogeneous cohort. In 2015, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Fetal Growth Study published updated standards that are specific to race/ethnicity. These do not allow for precise estimated fetal weight (EFW) percentile calculation, however, and their effectiveness to predict neonatal morbidity and small for gestational age (SGA) has not yet been compared to the longstanding Hadlock standard...
August 14, 2018: American Journal of Obstetrics and Gynecology
Chengfang Xu, Zhenyan Han, Ping Li, Xuejiao Li
Gestational diabetes mellitus (GDM) is a metabolic disease with symptoms of hyperglycemia, insulin resistance and fetal maldevelopment. Evidence has indicated that fibroblast growth factor (FGF)-21 is a multifunctional protein and exhibits potential therapeutic value for metabolic diseases. The present study investigated the diagnostic value of FGF-21 serum levels in patients with GDM (n=50) and age-matched healthy individuals (n=50). It was demonstrated that the gene and protein expression levels of FGF-21 were downregulated in adipose cells in patients with GDM compared with those in healthy individuals...
August 2018: Experimental and Therapeutic Medicine
Cécile Tromeur, Liselotte M van der Pol, Pierre-Yves Le Roux, Yvonne Ende-Verhaar, Pierre-Yves Salaun, Christophe Leroyer, Francis Couturaud, Lucia J M Kroft, Menno V Huisman, Frederikus A Klok
Differences of computed tomography pulmonary angiography versus ventilation-perfusion lung scan in pregnant patients with suspected acute pulmonary embolism are not well-known, leading to ongoing debate on which test to choose. We searched in PUBMED, EMBASE, Web of science and Cochrane library databases and identified all relevant articles and abstracts published up to October1st 2017. We assessed diagnostic efficiency, frequency of non-diagnostic results and radiation exposure for patient and fetus. We included 13 studies for the diagnostic efficiency analysis, 30 for non-diagnostic results analysis and 22 for radiation exposure analysis...
August 16, 2018: Haematologica
Alison Nankervis, Sarah Price, Jennifer Conn
BACKGROUND: Gestational diabetes mellitus (GDM) is a common condition with risks for mother and baby. Type 2 diabetes mellitus (T2DM) and obesity are occurring with increasing frequency, and the incidence of GDM reflects this trend. Further, new diagnostic criteria have greatly increased the prevalence of GDM. Potential lifelong consequences exist for mother and baby if the condition goes untreated; however, adverse maternal and fetal effects can be ameliorated by effective pregnancy management...
July 2018: Australian journal of general practice
Manisha Kumar, Priyam
Hypoplastic left heart syndrome (HLHS) represents a spectrum of abnormalities which marks the underdevelopment of left side cardiac structures. We present the ultrasound and autopsy correlation of two cases with HLHS with core pathology as isolated mitral atresia in one and aortic atresia in another. In both the cases after diagnostic confirmation on ultrasound (US), the couple opted for termination of pregnancy and consented for autopsy. The correlation of US and autopsy images of HLHS, facilitated our understanding of pathology behind the image obtained on US...
August 16, 2018: Journal of Clinical Ultrasound: JCU
Wen Shu, Hanying Li, Hao Gong, Mei Zhang, Xiulong Niu, Yongqiang Ma, Xin Zhang, Wei Cai, Guohong Yang, Maoti Wei, Ning Yang, Yuming Li
Preeclampsia is a pregnancy-specific disease characterized by hypertension as well as proteinuria after the 20th week of pregnancy. Animal models are effective tools for studying the pathogenesis, diagnostic criteria and treatment methods of preeclampsia. The present study sought to establish and evaluate a preeclampsia-like Sprague Dawley (SD) rat model using N-nitro-L-arginine methyl ester (L-NAME). Rats were randomly assigned to 7 groups (n=10 in each): Control rats and rats treated with low-dose L-NAME (40 mg/kg body weight/day) starting from gestational day (GD) 9, medium-L-NAME (75 mg/kg body weight/day) starting from GD 9 (9D ML group), high-dose L-NAME (125 mg/kg body weight/day) starting from GD 9, low-dose L-NAME starting from GD 10, medium-dose L-NAME starting from GD 10 and high-dose L-NAME starting from GD 10...
August 2018: Experimental and Therapeutic Medicine
Stefan Kuhle, Bryan Maguire, Hongqun Zhang, David Hamilton, Alexander C Allen, K S Joseph, Victoria M Allen
BACKGROUND: While there is increasing interest in identifying pregnancies at risk for adverse outcome, existing prediction models have not adequately assessed population-based risks, and have been based on conventional regression methods. The objective of the current study was to identify predictors of fetal growth abnormalities using logistic regression and machine learning methods, and compare diagnostic properties in a population-based sample of infants. METHODS: Data for 30,705 singleton infants born between 2009 and 2014 to mothers resident in Nova Scotia, Canada was obtained from the Nova Scotia Atlee Perinatal Database...
August 15, 2018: BMC Pregnancy and Childbirth
Natasha Reid
The term fetal alcohol spectrum disorder (FASD) is used to describe a wide range of difficulties that individuals who are exposed to alcohol prenatally can face. FASD is a significant public health concern that is currently under-recognised and consequently, under-diagnosed in Australia. A new Commonwealth FASD Strategy (2018-2028) is being developed and the Australian Government has announced significant funding for the expansion of FASD prevention, diagnostic and intervention services around Australia. Therefore, it is timely to consider what the current state of affairs regarding FASD in Australia is and describe areas for future research and service delivery...
August 15, 2018: Drug and Alcohol Review
Ai-Ling Tian, Hany M Elsheikha, Dong-Hui Zhou, Yao-Dong Wu, Mu-Xin Chen, Meng Wang, Dan Chen, Xi-Chen Zhang, Xing-Quan Zhu
The development of a method to rapidly diagnose Neospora caninum infection is highly desirable. Recombinase polymerase amplification (RPA), combined with lateral flow (LF) strips, is a novel approach to rapidly amplify and visualize DNA. We have developed a prototype LF-RPA assay, using primers and a probe that targeted a specific sequence in the N. caninum NC-5 gene. The N. caninum-specific LF-RPA assay was first tested on purified DNA from oocysts and amplified N. caninum DNA to detectable levels in 10 min, at a constant temperature and without the need for an expensive thermocycler...
July 15, 2018: Veterinary Parasitology
Shiri Shinar, Tally Lerman-Sagie, Monica Echevarria Telleria, Fernando Viñals, Raquel García, Hector Quiroga, Carmina Bermejo, Liat Ben-Sira, Zvika Leibovitz, Joseph Har-Toov, Gustavo Malinger
INTRODUCTION: Pericallosal lipomas (PCL) are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum (CC). The lipomas are usually diagnosed prenatally during the third trimester. The purpose of this study was to identify 2nd trimester ultrasound findings that may hint to a later diagnosis of PCL and to evaluate their MRI evolution. METHODS: A multicenter study of fetuses diagnosed during the 3rd trimester with a PCL in 7 fetal ultrasound units between 2001 and 2017...
August 2, 2018: European Journal of Paediatric Neurology: EJPN
Jacob A Macdonald, Philip A Corrado, Sydney M Nguyen, Kevin M Johnson, Christopher J Francois, Ronald R Magness, Dinesh M Shah, Thaddeus G Golos, Oliver Wieben
BACKGROUND: Pregnancy complications are often associated with poor uteroplacental vascular adaptation and standard diagnostics are unable to reliably quantify flow in all uteroplacental vessels and have poor sensitivity early in gestation. PURPOSE: To investigate the feasibility of using 4D flow MRI to assess total uteroplacental blood flow in pregnant rhesus macaques as a precursor to human studies. STUDY TYPE: Retrospective feasibility study...
August 13, 2018: Journal of Magnetic Resonance Imaging: JMRI
Oksana V Bakun, Svitlana Y Karatieieva, Svitlana B Semenenko, Oksana I Yurkiv, Andrii M Berbets
OBJECTIVE: Introduction: Maternal obesity is a serious problem in obstetric-gynecological practice in the world. Pathophysiological changes create conditions for obstetric and perinatal complications, the most important complications of which is gestational diabetes mellitus, preeclampsia, pathological course of labor, increased operative delivery, fetal distress. The aim of the study is to find out the depth of the problem "Obesity and Pregnancy" by analyzing the range of obstetric, perinatal complications based on the processing of scientific relevant literature data...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Toshiyuki Hata, Kenji Kanenishi, Nobuhiro Mori, Mohamed Ahmed Mostafa AboEllail, Uiko Hanaoka, Kosuke Koyano, Ikuko Kato, Takashi Kusaka
Objective To assess the usefulness of the antenatal fetal neurodevelopmental test for the prediction of postnatal developmental disabilities. Methods Fetal behavior was assessed with Kurjak's antenatal neurodevelopmental test (KANET) using four-dimensional ultrasound between 28 and 38 weeks of gestation. A score range of 0-5 was characterized as abnormal, from 6 to 9 was considered borderline, and 10-16 was normal. After birth, follow-up was conducted for at least 2 years in all fetuses. Results There were 337 normal (95...
August 11, 2018: Journal of Perinatal Medicine
Nicole J Boczek, Katharina Hopp, Lacey Benoit, Daniel Kraft, Margot A Cousin, Patrick R Blackburn, Charles D Madsen, Gavin R Oliver, Asha A Nair, Jie Na, Diana W Bianchi, Geoffrey Beek, Peter C Harris, Pavel Pichurin, Eric W Klee
Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent publications suggest that WES reveals the genetic cause in ~25% of these cases and is most successful when applied to children with neurological disease. The residual 75% of cases remain genetically elusive until more information becomes available in the literature or functional studies are pursued. WES performed on three families with presumed ciliopathy diagnoses, including orofaciodigital (OFD) syndrome, fetal encephalocele, or Joubert-related disorder, identified compound heterozygous variants in C2CD3...
August 10, 2018: European Journal of Human Genetics: EJHG
Carlos A A Brito, Adélia Henriques-Souza, Cynthia R P Soares, Priscila M S Castanha, Laís C Machado, Mylena R Pereira, Mariana C M Sobral, Antonio R Lucena-Araujo, Gabriel L Wallau, Rafael F O Franca
BACKGROUND: Zika virus (ZIKV) is a recently emerged arbovirus, which infection during pregnancy is associated with a series of congenital malformations, collectively denominated Congenital Zika Syndrome (CZS). Following infection, ZIKV RNA has a median duration period of 10 days in plasma and up to 6 months in semen in immunocompetent adult individuals. Moreover, ZIKV is able to replicate and persist in fetal brains and placentas, consequently, infection is associated with pregnancy loss, albeit the pathogenic mechanisms are still unknown...
August 10, 2018: BMC Infectious Diseases
Alexandra M Korostyshevskaya, Andrey A Savelov, Liudmila I Papusha, Alexander E Druy, Vasily L Yarnykh
Congenital medulloblastoma is extremely rare. MRI appearance of this tumor in the fetal brain has not been described. A case of congenital medulloblastoma initially observed by antenatal MRI with postnatal follow-up and treatment is presented. A pregnant female underwent fetal MRI on the 31st gestational week for routine indications. Midline cerebellar lesion of ≤2 cm in size with minor T2 hypointensity and T1 hyperintensity was identified. Additionally, quantitative MRI including apparent diffusion coefficient (ADC) and fast macromolecular proton fraction (MPF) mapping was performed...
June 7, 2018: Clinical Imaging
Usha D Nagaraj, Maria A Calvo-Garcia, Arnold C Merrow, Zhang Bin, Beth M Kline-Fath
OBJECTIVE: To evaluate rectal meconium signal in fetuses with open spinal dysraphism and correlate findings with postnatal exam. METHODS: Single-institution IRB approved HIPPA compliant retrospective analysis of fetal MRIs of open spinal dysraphism from 2004-2016. Fetuses with diagnostic T1-weighted images and postnatal follow-up at our institution were included. RESULTS: 115 fetuses (average gestational age 23.9 ± 3.6 weeks) met inclusion criteria...
August 10, 2018: Prenatal Diagnosis
Ewa Parfieniuk, Paulina Samczuk, Tomasz Kowalczyk, Karolina Pietrowska, Magdalena Niemira, Magdalena Paczkowska-Abdulsalam, Slawomir Wolczynski, Adam Kretowski, Michal Ciborowski, Monika Zbucka-Kretowska
OBJECTIVE: The objective of the study was to perform maternal plasma metabolic fingerprinting to evaluate differences in plasma metabolites between healthy and Down syndrome (DS) pregnancies and to indicate novel non-invasive markers for DS prenatal diagnostics. METHODS: This was a case-control study of pregnancies between 15th - 18th gestational week. LC-MS-based metabolic fingerprinting of plasma samples was performed. RESULTS: Levels of five metabolites were significantly lower in the plasma of DS pregnancies...
August 10, 2018: Prenatal Diagnosis
Xiaoyun Wei, Zheng Ao, Lin Cheng, Zhaobo He, Qinqin Huang, Bo Cai, Lang Rao, Qian-Fang Meng, Zixiang Wang, Yue Sun, Wei Liu, Yuanzhen Zhang, Shi Shang Guo, Feng Guo, Xingzhong Zhao
Non-invasive prenatal diagnostics (NIPD) has been an emerging field for prenatal diagnosis research. Carrying the whole genome coding of the fetus, fetal nucleated red blood cells (FNRBCs) have been pursued as a surrogate biomarker whereas traveling around in maternal blood. Here, by combining a unique microbead-based centrifugal separation and enzymatic release, we demonstrated a novel method for FNRBC isolation from blood samples. First, the gelatin-coated silica microbeads were modified with FNRBCs specific antibody (anti-CD147) to capture the target cells in blood samples...
August 8, 2018: Nanotechnology
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