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Fetal Diagnostic

Raigam J Martinez-Portilla, Montse Pauta, Ameth Hawkins-Villarreal, Marta Rial-Crestelo, Fernanda Paz Y Miño, Irene Madrigal, Francesc Figueras, Antoni Borrell
OBJECTIVE: To establish the added value of chromosomal microarray analysis (CMA) above normal karyotyping to assess the genetic causes of stillbirth. METHODS: A systematic search was performed to identify relevant studies published in English and Spanish using PubMed, SCOPUS and ISI Web of Knowledge databases, The Cochrane Library and PROSPERO database for meta-analysis, without publication time restrictions. Case-series of fetal losses ≥ 20 weeks of gestation, assessed by CMA with at least 5 subjects analyzed...
December 14, 2018: Ultrasound in Obstetrics & Gynecology
Daniele Di Mascio, Filomena Giulia Sileo, Asma Khalil, Giuseppe Rizzo, Nicola Persico, Roberto Brunelli, Antonella Giancotti, Pierluigi Benedetti Panici, Ganesh Acharya, Francesco D'Antonio
OBJECTIVES: To report the rate of additional anomalies detected exclusively on prenatal MRI in fetuses affected by isolated mild or moderate ventriculomegaly (VM) according to the type of ultrasound protocol adopted (dedicated neurosonography vs standard assessment of fetal brain) and to explore whether the diagnostic performance of fetal MRI in detecting such anomalies is affected by gestational age at scan and laterality of ventricular dilatation. METHODS: The primary aim was to report the rate of additional anomalies detected exclusively on prenatal MRI in fetuses affected by isolated mild and moderate VM (ventricular dilatation between 10-15 mm) undergoing compared to those not undergoing dedicated neurosonography, defined as a detail assessment of fetal brain according to the International Society of Ultrasound in Obstetrics and Gynecology guidelines...
December 14, 2018: Ultrasound in Obstetrics & Gynecology
Raja A S Mukherjee, Penny A Cook, Sarah H Norgate, Alan D Price
Disentangling the relative developmental impact of prenatal alcohol exposure from postnatal neglect is clinically valuable for informing future service provision. In this study, developmental outcomes across groups are compared in a 'natural experiment'. METHODS: Clinical data from 99 persons with fetal alcohol spectrum disorder (FASD) diagnoses were audited. Developmental outcomes (diagnosis of attention deficit hyperactivity disorder, ADHD; social and communication disorder, SCD; or Autistic Spectrum Disorder, ASD; Short Sensory Profile, SSP; Vineland II Adaptive Behaviour Scales) were compared across two exposure groups: prenatal alcohol only; and mixed prenatal alcohol and neglect...
June 12, 2018: Alcohol
Mariusz Baumgart, Marcin Wiśniewski, Magdalena Grzonkowska, Mateusz Badura, Michał Szpinda, Katarzyna Pawlak-Osińska
PURPOSES: Precise morphometric data on the development of ossification centers in human fetuses may be useful in the early detection of skeletal dysplasias associated with delayed ossification center development and mineralization. The present study was performed to quantitatively examine the primary ossification center of the fibular shaft with respect to its linear, planar and volumetric parameters. MATERIALS AND METHODS: Using methods of CT, digital-image analysis (Osirix 3...
December 12, 2018: Surgical and Radiologic Anatomy: SRA
Giana Izzo, Giacomo Talenti, Giorgia Falanga, Marco Moscatelli, Giorgio Conte, Elisa Scola, Chiara Doneda, Cecilia Parazzini, Mariangela Rustico, Fabio Triulzi, Andrea Righini
BACKGROUND AND PURPOSE: Fetal postmortem MR Imaging (pmMRI) has been recently used as an adjuvant tool to conventional brain autopsy after termination of pregnancy (TOP). Our purpose was to compare the diagnostic performance of intrauterine MRI (iuMRI) and pmMRI in the detection of brain anomalies in fetuses at early gestational age (GA). MATERIAL AND METHODS: We retrospectively collected 53 fetuses who had undergone iuMRI and pmMRI for suspected brain anomalies...
December 12, 2018: European Radiology
An Eerdekens, Lies Langouche, Greet Van den Berghe, Johan Verhaeghe, Gunnar Naulaers, Christine Vanhole
AIM: Thyroid hormones are crucial for fetal and neonatal brain development. This paper provides an overview of the normal role of thyroid hormones in fetal brain development and the pathophysiology of transient hypothyroxinaemia of prematurity (THOP). It also discusses the diagnostic and therapeutic controversies around THOP and looks at directions for future research. METHODS: We used the PubMed and Embase databases to identify papers published in English from 1969 to June 2018...
December 7, 2018: Acta Paediatrica
Lei Zhang, Xinru Deng, Xian Shi, Xiaojing Dong
Fetal growth restriction (FGR) is a serious pregnancy complication associated with increased perinatal mortality and morbidity. It may lead to neurodevelopmental impairment and adulthood onset disorders. Recently, long noncoding RNAs (lncRNAs) were found to be associated with the pathogenesis of FGR. Here we report that the lncRNAH19 is significantly decreased in placentae from pregnancies with FGR. Downregulation of H19 leads to reduced proliferation and invasion of extravillous trophoblast cells. This is identified with reduced trophoblast invasion, which has been discovered in FGR...
December 9, 2018: Journal of Cellular Biochemistry
Samsiya Ona, Sarah Rae Easter, Malavika Prabhu, Gianna Wilkie, Ruth E Tuomala, Laura E Riley, Khady Diouf
OBJECTIVE: To investigate the test characteristics of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) criteria for intrauterine inflammation or infection or both (triple I) and rates of adverse outcomes in a cohort of febrile intrapartum women. METHODS: This retrospective cohort study included women at 24 weeks of gestation or greater from June 2015 to September 2017 at a single tertiary hospital with a temperature 100...
December 4, 2018: Obstetrics and Gynecology
Debora Farias Batista Leite, Aude-Claire Morillon, Elias F Melo Júnior, Renato T Souza, Ali S Khashan, Philip N Baker, Louise C Kenny, José Guilherme Cecatti
INTRODUCTION: Fetal growth restriction (FGR) is a relevant research and clinical concern since it is related to higher risks of adverse outcomes at any period of life. Current predictive tools in pregnancy (clinical factors, ultrasound scan, placenta-related biomarkers) fail to identify the true growth-restricted fetus. However, technologies based on metabolomics have generated interesting findings and seem promising. In this systematic review, we will address diagnostic accuracy of metabolomics analyses in predicting FGR...
December 6, 2018: BMJ Open
Fergus P McCarthy, Roisin M Ryan, Lucy C Chappell
Preterm pre-eclampsia (prior to 37 weeks' gestation) remains a major cause of maternal and fetal morbidity and mortality particularly in low to middle income countries. Much research has focused on first and second trimester predictors of pre-eclampsia with the aim of allowing stratification of antenatal care and trialling of potential preventative and therapeutic agents. However, none have been shown to be of benefit in randomised controlled trials. In this literature review we critically evaluate predictive and diagnostic tests for preterm pre-eclampsia and discuss their clinical use and potential value in the management of preterm pre-eclampsia...
October 2018: Pregnancy Hypertension
Hongge Li, Yu Lei, Hui Zhu, Yuqin Luo, Yeqing Qian, Min Chen, Yixi Sun, Kai Yan, Yanmei Yang, Bei Liu, Liya Wang, Yingzhi Huang, Junjie Hu, Jianyun Xu, Minyue Dong
Background: Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false positive and false negative rates. Unfortunately, recent studies suggested that the NIPT achieved lower accuracy in sex chromosomal aneuploidies (SCAs) detection than autosomal aneuploidies detection. BGISEQ-500 powered by Combinatorial Probe-Anchor Synthesis (CPAS) and DNA Nanoballs (DNBs) technology that combined linear amplification and rolling circle replication to reduce the error rate while enhancing the signal...
2018: Molecular Cytogenetics
James Tankel, Shlomo Yellinek, Yonat Shechter, Dmitry Greenman, Alexander Ioscovich, Sorina Grisaru-Granovsky, Petachia Reissman
BACKGROUND: Accurate and timely diagnoses of acute appendicitis (AA) during pregnancy avoids maternal and fetal morbidity and mortality. We present our experience of using an initial transabdominal ultrasound (US) performed at presentation to diagnose AA in pregnant patients as well as the value of a delayed repeat study in those who remain equivocal. We explore the sensitivity and specificity of this algorithm as well as the maternal and fetal safety of this approach. METHODS: Of the 225 patients identified within the study period who underwent laparoscopic appendectomy, 216 met the inclusion criteria and were retrospectively analyzed...
December 4, 2018: Surgical Endoscopy
Glenn E Palomaki, Edward M Kloza
PURPOSE: We systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome. METHODS: We searched peer-reviewed English publications with diagnostic results on all pregnancies that provided test failure rates. Data on the odds of failure in Down syndrome and euploid pregnancies and the impact of repeat testing were extracted. Random-effects modeling was then used to identify moderators that could explain variability...
November 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Słodki Maciej, Soroka Małgorzata, Rizzo Giuseppe, Respondek-Liberska Maria
INTRODUCTION: Prenatal atrioventricular septal defect (AVSD) on frequent occasions coexists with other cardiac or extracardiac abnormalities or malformation which may change the prognosis and the management with the fetus and the newborn. The aim of the research was to assess the prognosis and the outcome of prenatally diagnosed AVSD based on the classification which also includes coexisting extracardiac abnormalities and malformations as well as its influence on the prenatal consultation...
December 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
Fabienne Delay, Vincent Dochez, Florence Biquard, Marie-Thérèse Cheve, Philippe Gillard, Chloe Arthuis, Norbert Winer
INTRODUCTION: The incidence of fetal goiters is reported to be around 1 per 40 000 births. The risk of complications is first of all obstetric, directly related to goiter size, but it may also affect longer term fetal and child development, depending on whether the goiter is due to hypo- or hyperthyroidism. Management is multidisciplinary, but not yet consensual and not always optimal by either endocrinologists or obstetricians. OBJECTIVES: The principal objective of this retrospective study was to analyze the data that enabled the physicians to assess whether the goiter was hypo- or hyperthyroid and then to analyze the obstetric practices used in the Pays de Loire network to describe in detail the tools used to diagnose and characterize the goiters and the management chosen in these cases...
December 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
Iliana Bersani, Cinzia Auriti, Fiammetta Piersigilli, Andrea Dotta, Francesca Diomedi-Camassei, Alessandra Di Pede, Gabriele Buttinelli, Olivier Danhaive
BACKGROUND: Neonatal acute liver failure (ALF) is a severe condition with a mortality rate up to 70%. Human enterovirus (HEV) infections are associated with serious diseases in newborns, including myocarditis, meningoencephalitis and, more rarely, ALF with a fulminant course. METHODS: Cases of neonatal-onset ALF were identified using the institutional clinical database. The history and clinical data of infants with HEV infection were collected by medical record revision...
December 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
Tingying Lei, Fang Fu, Ru Li, Dan Wang, Dan Yang, Fang Wang, Xin Yang, Min Pan, Li Zhen, Jin Han, Dongzhi Li, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES). METHODS: WES was performed on DNA extracted from cord blood samples of 26 fetuses with unexplained CAKUT with/without other structural anomalies. In the first 19 cases, sequencing was performed on fetal DNA only, and the turnaround time was 11-12 weeks. For the remaining 7 cases, the fetus and its parents were sequenced simultaneously, and the turnaround time was 8-9 weeks...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
N C Momen, A Ernst, L H Arendt, J Olsen, J Li, M Gissler, C H Ramlau-Hansen
OBJECTIVE: Maternal cancer may be associated with offspring mental and behavioural disorders through various biological pathways. When postnatally diagnosed, it may cause stress and changes in care, potentially influencing mental health. Prenatally diagnosed cancer could lead to maternal stress and treatment, or influence fetal neural development. This study investigates associations between prenatally or postnatally diagnosed maternal cancers, and mental and behavioural disorders in children...
December 4, 2018: Psycho-oncology
Cédric Gasse, Kim Paquette, Suzanne Demers, Stéphanie Roberge, Emmanuel Bujold, Amélie Boutin
BACKGROUND: Fetal growth restriction (FGR) is a complication of pregnancy associated with major neonatal morbidity and commonly diagnosed at birth based on birth weight below the 5th or the 10th centile. There is no consensus on the use of routine third-trimester ultrasound for the detection of FGR in a general population. This systematic review aims to estimate the performance of third-trimester ultrasound markers in the screening for babies who are small for gestational age in low-risk or general population...
December 3, 2018: Systematic Reviews
James Stray, Bernhard Zimmermann
Noninvasive prenatal genetic tests analyzing the cell-free fetal DNA in the circulation of expectant mothers are now performed routinely in clinical diagnostic laboratories. Leveraging the power of next generation sequencing (NGS), these tests can detect variation in chromosomal copy number or microdeletions early in gestation. All methods begin with blood collection followed by transport to the diagnostic lab, plasma separation, and purification of ccfDNA from the plasma to prepare it for molecular analysis...
2019: Methods in Molecular Biology
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