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Fetal diagnosis

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https://www.readbyqxmd.com/read/28731930/early-life-exposure-to-chinese-famine-modifies-the-association-between-hypertension-and-cardiovascular-disease
#1
Zumin Shi, Stephen J Nicholls, Anne W Taylor, Dianna J Magliano, Sarah Appleton, Paul Zimmet
OBJECTIVE: Studies have shown that famine exposure during early life may increase the risk of cardiovascular disease (CVD), hypertension, and diabetes during adulthood. We aimed to assess whether exposure to the Chinese famine (1959-1961) modifies the association between hypertension and CVD. METHODS: We investigated data of 5772 adults born between 1954 and 1964 from the China Health and Retirement Longitudinal Study. CVD was based on self-reported doctor's diagnosis of heart problems (heart attack, coronary heart disease, angina, congestive heart failure, or other heart problems) and stroke...
July 20, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#2
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729313/fetal-doppler-velocimetry-and-bronchopulmonary-dysplasia-risk-among-growth-restricted-preterm-infants-an-observational-study
#3
Alessandra Lio, Paolo Rosati, Roberta Pastorino, Francesco Cota, Milena Tana, Chiara Tirone, Claudia Aurilia, Cinzia Ricci, Alessandro Gambacorta, Angela Paladini, Ilenia Mappa, Silvia Buongiorno, Gian Franco Zannoni, Costantino Romagnoli, Giovanni Vento
OBJECTIVE: To investigate whether fetal growth restriction (FGR) diagnosis, based on pathological prenatal fetal Doppler velocimetry, is associated with bronchopulmonary dysplasia (BPD) independently of being small for gestational age (SGA) per se at birth among very preterm infants. DESIGN: Prospective, observational study. FGR was defined as failing fetal growth in utero and fetal Doppler velocimetry abnormalities. SETTING: Policlinico Universitario Agostino Gemelli, Roma, Italy...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28727891/prenatal-diagnosis-of-sotos-syndrome-characterized-by-fetal-growth-restriction
#4
Yi Zhang, Shaobing Lin, Qun Fang
Sotos syndrome (OMIM#117550) is a overgrowth syndrome caused by mutations of the NSD1 gene.(1) The clinical manifestations include macrocephaly, tall stature, cardiac anomalies, and behavioral problems.(2,3) Affected individuals also have an increased risk of neoplasms. This article is protected by copyright. All rights reserved.
July 20, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28727125/usefulness-of-saline-infusion-sonohysterography-and-feeding-artery-imaging-in-endometrial-polyp-diagnosis
#5
Marcin Anioł, Grażyna Dec, Katarzyna Wojda, Piotr Sieroszewski
OBJECTIVES: The aim of this study was to assess the usefulness of sonohysterography with feeding artery visualization using transvaginal sonography to diagnose endometrial polyps. MATERIAL AND METHODS: We conducted an observational study of 60 perimenopausal patients referred to the Department of Fetal Medicine and Gynaecology, Medical University of Lodz with abnormal uterine bleeding or suspicion of endometrial pathology based on sonography scan. In all 60 patients transvaginal sonography scan showed a possibility of an endometrial polyp...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28723764/increased-nuchal-translucency-in-fetuses-with-a-normal-karyotype-diagnosis-and-management-an-observational-study
#6
Demetra Socolov, Razvan Socolov, Vlad Eusebiu Gorduza, Tudor Butureanu, Ruxandra Stanculescu, Alexandru Carauleanu, Ioana Pavaleanu
The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal aneuploidies are also associated with increased NT, which can also be detected in normal fetuses. This study sought to evaluate the causes of this ultrasound sign in a group of patients from Iasi, Romania.During the decade-long study period, there were 71 certified cases involving increased NT; the patients in these cases underwent diagnostic amniocentesis and karyotyping...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28722320/congenital-unilateral-renal-agenesis-prevalence-prenatal-diagnosis-associated-anomalies-data-from-two-birth-defect-registries
#7
Hélène Laurichesse Delmas, Monique Kohler, Bérénice Doray, Didier Lémery, Christine Francannet, Jocelyn Quistrebert, Cécile Marie, Isabelle Perthus
BACKGROUND: The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year...
July 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28719896/update-on-the-diagnosis-and-prognosis-of-preeclampsia-with-the-aid-of-the-sflt-1-plgf-ratio-in-singleton-pregnancies
#8
Ignacio Herraiz, Elisa Llurba, Stefan Verlohren, Alberto Galindo
Preeclampsia (PE) is involved in a group of obstetrical conditions closely related by the presence of placental dysfunction (PD), which also includes intrauterine growth restriction and placental abruption. The timely and accurate recognition and management of PE are often challenging because diagnostic criteria are still based on nonspecific signs and symptoms and because common severity criteria correlate poorly with adverse maternal and fetal outcomes. The discovery of the role of angiogenesis-related factors - soluble fms-like tyrosine kinase-1 (sFlt-1) and placental growth factor (PlGF) - in the underlying pathophysiology of PD has marked an important step for improving its early diagnosis and prognosis assessment before gestational week 34...
July 19, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28715806/real-time-volume-contrast-imaging-in-the-a-plane-with-a-four-dimensional-electronic-probe-facilitates-the-evaluation-of-fetal-extremities-in-midtrimester-sonograms
#9
Federica Bellussi, Giuliana Simonazzi, Ginevra Salsi, Francesca Guasina, Gianluigi Pilu
OBJECTIVE: To evaluate the efficiency of real-time volume contrast imaging in the A plane (VCI-A) of fetal extremities, compared with conventional two-dimensional ultrasound (2D). METHODS: This was a randomized controlled trial of 100 patients undergoing midtrimester sonography. The fetal limbs were imaged with either 2D or VCI-A with a four-dimensional (4D) electronic probe. Time required for the examination, number of images stored, and quality of the documentation were compared...
July 18, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28714606/treating-depression-during-pregnancy-are-we-asking-the-right-questions
#10
REVIEW
Cara Angelotta, Katherine L Wisner
BACKGROUND: Major depressive disorder (MDD) is a common complication of pregnancy. Once the diagnosis of MDD is made, the physician must assist the pregnant woman in developing a treatment plan. METHODS: In considering antidepressants, the benefit of medication treatment for maternal disease control must be balanced against the risk of the drug to the developing embryo-fetus. This is an individualized decision depending on the disease characteristics, likelihood of maternal depression response, probability of adverse fetal effects, and patient characteristics and values...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28714498/chondrodysplasia-punctata-a-case-report-of-fetal-warfarin-syndrome
#11
S Songmen, O B Panta, S S Paudel, R K Ghimire
Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation. Here, we present a case of a fetal warfarin syndrome in a second born child of a 27 year lady under warfarin for prosthetic heart valve...
January 2017: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28711366/-contribution-of-chromosomal-microarray-analysis-by-a-multidisciplinary-prenatal-diagnosis-center
#12
C Bartholmot, E Mousty, F Grosjean, Y Petrov, P Khau Van Kien, J Chiesa, V Letouzey
OBJECTIVE: Chromosomal analysis by array CGH is a cytogenetic technique that has opened its application to prenatal diagnosis in recent years. The main objective of the study was to analyze the contribution for couples using chromosomal analysis by array CGH in a CPDPN. METHODS: A retrospective cohort study was conducted in 2015 in a CPDPN. All the patients with array CGH analysis were included in the study. The analysis indications were CN≥3.5mm, ultrasound signs, intra-uterine growth retardation and fetal deaths...
July 12, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28711077/acute-kidney-injury-in-pregnancy
#13
Belinda Jim, Vesna D Garovic
Pregnancy-related acute kidney injury (AKI) has declined in incidence in the last three decades, although it remains an important cause of maternal and fetal morbidity and mortality. Pregnancy-related causes of AKI such as preeclampsia, acute fatty liver of pregnancy, HELLP (Hemolysis, Elevated Liver function tests, Low Platelets) syndrome, and the thrombotic microangiopathies (thrombotic thrombocytopenic purpura, atypical hemolytic-uremic syndrome [HUS]) exhibit overlapping features and often present as diagnostic dilemmas...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28710882/mid-trimester-preterm-premature-rupture-of-membranes-pprom-etiology-diagnosis-classification-international-recommendations-of-treatment-options-and-outcome
#14
REVIEW
Michael Tchirikov, Natalia Schlabritz-Loutsevitch, James Maher, Jörg Buchmann, Yuri Naberezhnev, Andreas S Winarno, Gregor Seliger
Mid-trimester preterm premature rupture of membranes (PPROM), defined as rupture of fetal membranes prior to 28 weeks of gestation, complicates approximately 0.4%-0.7% of all pregnancies. This condition is associated with a very high neonatal mortality rate as well as an increased risk of long- and short-term severe neonatal morbidity. The causes of the mid-trimester PPROM are multifactorial. Altered membrane morphology including marked swelling and disruption of the collagen network which is seen with PPROM can be triggered by bacterial products or/and pro-inflammatory cytokines...
July 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28708311/prenatal-assessment-of-the-position-of-fetal-conus-medullaris-as-a-predictor-of-fetal-spinal-lesions
#15
Dan Zhao, Qiuju Wei, Ailu Cai, Limei Xie, Bing Wang, Xiaoguang Wang
OBJECTIVES: The aim of this study is to compare two different methods in assessment of the position of fetal conus medullaris (CM) and to explore the significance for assessment of CM. METHODS: This study included both normal fetuses and those with the diagnosis of fetal spinal lesions. The position of fetal CM was performed sonographically using two methods: location of CM in relation to the vertebral body (CM level) and measurement of the conus sacrum (CS) distance...
July 14, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28705706/inflammatory-myofibroblastic-tumors-of-the-lung-carrying-a-chimeric-a2m-alk-gene-report-of-two-infantile-cases-and-review-of-the-differential-diagnosis-of-infantile-pulmonary-lesions
#16
Mio Tanaka, Kenichi Kohashi, Kei Kushitani, Misa Yoshida, Sho Kurihara, Masumi Kawashima, Yuka Ueda, Ryota Souzaki, Yoshiaki Kinoshita, Yoshinao Oda, Yukio Takeshima, Eiso Hiyama, Tomoaki Taguchi, Yukichi Tanaka
We report two infantile cases of pulmonary tumor carrying a chimeric A2M-ALK gene. A2M-ALK is a newly identified anaplastic lymphoma kinase (ALK)-related chimeric gene from a tumor diagnosed as fetal lung interstitial tumor (FLIT). FLIT is a recently recognized infantile pulmonary lesion defined as a mass-like lesion that morphologically resembles the fetal lung. Grossly, FLIT characteristically appears as a well-circumscribed spongy mass, whereas the tumors in these patients were solid and firm. Histologically, the tumors showed intrapulmonary lesions composed of densely proliferating polygonal or spindle-shaped mesenchymal cells with diffuse and dense infiltrations of inflammatory cells, forming microcystic or micropapillary structures lined by TTF1-positive pneumocytes, favoring IMT rather than FLIT...
July 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/28705534/neuraxial-labor-analgesia-is-not-an-independent-predictor-of-perineal-lacerations-after-vaginal-delivery-of-patients-with-intrauterine-fetal-demise
#17
Ji H Lee, Feyce M Peralta, Anna Palatnik, Christina Lewicky Gaupp, Robert J McCarthy
INTRODUCTION: The role of neuraxial labor analgesia in perineal trauma following live births is controversial, and no studies have assessed the association in women delivering an intrauterine fetal demise. We evaluated the relationship between neuraxial labor analgesia and perineal laceration in these patients. METHODS: This was a retrospective case-control study of women with a diagnosis of fetal death after 20weeks of gestation, a vaginal delivery, and an Apgar score of 0 at delivery, during the period from January 2007 through December 2015...
June 1, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/28704852/pregnancy-and-tumor-outcomes-in-women-with-prolactinoma
#18
Bárbara Araujo, Sandra Belo, Davide Carvalho
Context Management of prolactinomas during pregnancy has always been a challenge. There is a concern about the risk of tumor growth, as well as the effects of the treatment on the developing fetus. Another issue that has been less studied is the outcome of women with prolactinoma after pregnancy and lactation. Objectives To evaluate remission of hyperprolactinaemia after pregnancy and lactation in women with prolactinoma. To describe the safety of dopamine agonists for the fetus and pregnancy outcomes. Methods A retrospective study of 32 pregnancies in women with prolactinoma was conducted in a single-centre...
July 13, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28702698/principles-of-first-trimester-screening-in-the-age-of-non-invasive-prenatal-diagnosis-screening-for-chromosomal-abnormalities
#19
REVIEW
Karl Oliver Kagan, Jiri Sonek, Philipp Wagner, Markus Hoopmann
PURPOSE: First trimester risk assessment for chromosomal abnormalities plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s, when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and it is often combined with a cell-free DNA (cfDNA) analysis as a secondary test. METHODS: A search of the Medline and Embase databases was done looking for articles about first trimester aneuploidy screening...
July 12, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28701601/an-antenatal-diagnosis-congenital-high-airway-obstruction
#20
S Miital, A Mittal, R Singal, S Singal, G Sekhon
Congenital high airway obstruction (CHAOS) is a rare lethal fetal malformation characterised by obstruction to the fetal upper airway, which can be partial or complete. Antenatal diagnosis of CHAOS is important due to recent management options. Diagnosis is made with secondary changes such as hyperechoic enlarged lungs resulting in mediastinal compression, ascites, hydrops, flattened or everted diaphragms and dilated distal airways. We reported a case of CHAOS, antenatally on ultrasonography (USG) at 20 weeks of gestation...
July 2017: Annals of Cardiac Anaesthesia
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