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Fetal discordance

Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about materno-fetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent posttest management recommendations for those with discordant test results...
October 10, 2016: Annual Review of Medicine
Sarah Meaney, Paul Corcoran, Keelin O'Donoghue
BACKGROUND: Perinatal death is one of the most difficult bereavements due to the shock and profound grief experienced by parents. It has been established that such bereavement has a life-lasting impact. Twin pregnancy is associated with increased perinatal risk, with higher rates of perinatal mortality than in singleton pregnancy. OBJECTIVES: To date, few studies have examined the effect of the loss of one twin diagnosed with a congenital abnormality during pregnancy...
October 11, 2016: Journal of Palliative Medicine
Jara Pascual Mancho, Sabina Marti Gamboa, Olga Redrado Gimenez, Raquel Crespo Esteras, Belen Rodriguez Solanilla, Sergio Castan Mateo
OBJECTIVE: To determine the diagnostic accuracy of fetal scalp lactate sampling (FSLS) and to establish an optimal cut-off value for intrapartum acidosis compared with fetal scalp pH. METHODS: A 20-month retrospective cohort study was conducted of all neonates delivered in our institution for whom fetal scalp blood sampling (FSBS) was performed, matching their intrapartum gasometry to their cord gasometry at delivery (n=243). The time taken from the performance of scalp blood sampling to arterial umbilical cord gas acquisition was 45 min at most...
October 8, 2016: Journal of Perinatal Medicine
Michael Rutter
Translational research focuses on innovation in healthcare settings, but this is a two-way process that may have implications for either treatment or prevention. Smoking and lung cancer and the fetal alcohol syndrome are used as examples. Experimental medicine that budges basic and clinical science often constitutes a key way forward. Areas of scientific progress and challenge are discussed in relation to drug action, social cognition, cognitive neuroscience, molecular genetics, gene-environment interaction, and epigenetics...
October 3, 2016: Development and Psychopathology
Francesco D'Antonio, Alessandra Familiari, Basky Thilaganathan, Aris T Papageorghiou, Lamberto Manzoli, Asma Khalil, Amar Bhide
The first aim of this study was to ascertain the diagnostic performance of first trimester ultrasound in detecting congenital anomalies in twins. The secondary aim was to explore the strength of association between different pregnancy characteristics and early detection of structural anomalies in a large unselected population of twin pregnancies. A systematic review of the published literature was also carried out MATERIAL AND METHODS: Retrospective analysis of prospectively collected data from consecutive twin pregnancies booked for antenatal care from 1996 till 2014...
September 13, 2016: Acta Obstetricia et Gynecologica Scandinavica
Oliver T Stirrup, Asma Khalil, Francesco D'Antonio, Baskaran Thilaganathan
INTRODUCTION: This study investigates patterns of intertwin size discordance in dichorionic diamniotic (DCDA) and monochorionic diamniotic (MCDA) twin pregnancies. MATERIAL AND METHODS: Ultrasound measurements of twin pregnancies, from 14 weeks to term, were collected by 9 hospitals over a 10-year period. This analysis considers the modelled and observed levels of discordance in abdominal circumference (AC) and estimated fetal weight (EFW) in relation to gestational age...
September 14, 2016: Fetal Diagnosis and Therapy
Alexandra Queirós, Isaac Blickstein, Sandra Valdoleiros, Nisa Felix, Alvaro Cohen, Teresinha Simões
OBJECTIVE: To evaluate if inter-twin estimated fetal weight differences at 21-24 weeks scans predict birth weight discordance in monochorionic and dichorionic twins born at 3 gestational age periods. METHODS: We counted the number of pairs with discordant estimated fetal weights (EFWs greater than the mean+1SD; i.e., a difference above 12% in dichorionic and 21% in monochorionic twins) derived during a 21-24 weeks scan as compared to actual discordant birth weight (>25%) in monochorionic and dichorionic pairs born at ≤32, 33 to 36, and >36 weeks...
September 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
Kaouther Dimassi, Abir Karoui, Amel Triki, Mohamed Faouzi Gara
BACKGROUND: Ultrasonography is an essential tool in the management of twin pregnancies. Fetal weight estimation is useful to anticipate neonatal care in case of weight restriction or growth discordance. AIMS: To assess the accuracy of estimated fetal weight (EFW) in twins and to assess the accuracy of sonographic examination to predict birth weight discordance (BWD) and small birth weight (SBW).    Methods : This was  a longitudinal prospective study over a period of one year...
March 2016: La Tunisie Médicale
Norman H Silverman, Anita J Moon-Grady
No abstract text is available yet for this article.
August 30, 2016: Journal of the American College of Cardiology
Myriam Bensemlali, Julien Stirnemann, Jérôme Le Bidois, Marilyne Lévy, Francesca Raimondi, Eric Hery, Bertrand Stos, Bettina Bessières, Younes Boudjemline, Damien Bonnet
BACKGROUND: Pre-natal diagnosis of congenital heart disease (CHD) allows anticipation of urgent neonatal treatment and provides adequate information to the parents on cardiac outcomes. OBJECTIVES: This study sought to analyze the discordances between expert fetal cardiac diagnosis and final diagnosis of CHD and their impact on neonatal and long-term care strategies. METHODS: We included 1,258 neonates with a pre-natally diagnosed CHD and 189 fetopsies following termination of pregnancy at our tertiary center over a 10-year period...
August 30, 2016: Journal of the American College of Cardiology
Liona C Y Poon, Min Yi Tan, Guelen Yerlikaya, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: To establish a normal range of birthweight with gestational age at delivery and compare the proportion of live births and stillbirths that are classified as small for gestational age (SGA) according to our normal range versus that of the INTERGROWTH-21(st) standard. METHODS: The study population comprised of 113,019 live births and 437 (0.4%) stillbirths. The inclusion criteria for establishment of a normal range of birthweight for gestational age were: firstly, delivery of live birth of phenotypically normal neonate at ≥ 24 weeks' gestation, secondly, no smoking and no maternal pre-pregnancy hypertension, diabetes mellitus, systemic lupus erythematosus or antiphospholipid syndrome and thirdly, no preeclampsia, gestational hypertension, gestational diabetes mellitus or iatrogenic preterm birth for fetal growth restriction in the current pregnancy...
August 26, 2016: Ultrasound in Obstetrics & Gynecology
Nicolas Sananes, Georges E Roth, Germain A Aissi, Nicolas Meyer, Annick Bigler, Jean-Michel Bouschbacher, Christine Helmlinger, Brigitte Viville, Mélanie Guilpain, Adrien Gaudineau, Chérif Y Akladios, Israël Nisand, Bruno Langer, Christophe Vayssiere, Romain Favre
BACKGROUND: Several studies have investigated the efficacy of moxibustion with or without acupuncture for fetal version, but the results are discordant. Meta-analyses pointed out the need for robust, methodologically sound, randomized controlled trials. OBJECTIVE: The objective of this study was to assess the effectiveness of acupuncture with fire needling on acupoint BL67 for version of breech presentation. STUDY DESIGN: This was a randomized, sham-controlled, single-blinded trial, which took place in Strasbourg teaching maternity hospital, France...
September 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Lean Beulen, Brigitte H W Faas, Ilse Feenstra, John M G van Vugt, Mireille N Bekker
OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high risk for fetal chromosomal abnormalities based on ultrasonographic examination, where NIPT was performed as first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome as well as partial autosomal aneuploidies, as currently in the Dutch laboratories, sex chromosomes are not analysed...
August 12, 2016: Ultrasound in Obstetrics & Gynecology
Shayesteh Jahanfar, Kenneth Lim
INTRODUCTION: Literature suggests that male hormones influence fetal growth in singleton pregnancies. We hypothesized that the same phenomenon is seen in twin gestations. OBJECTIVES: (1) to identify the impact of gender associated with fetal birth weight, head circumference, and birth length for twins; (2) to examine the effect of gender on standardized fetal growth at birth, according to gestational age and birth order; (3) to examine the effect of gender on placenta weight and dimensions...
July 21, 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Ozlem Dural, Cenk Yasa, Ibrahim H Kalelioglu, Sultan Can, Gamze Yılmaz, Aytul Corbacioglu Esmer, Recep Has, Atil Yuksel
OBJECTIVE: To determine the perinatal outcomes of selective termination in dichorionic twin pregnancies discordant for major but non-lethal fetal anomalies, performed at different gestational ages. METHODS: Thirty-one dichorionic twin pregnancies that underwent selective termination for discordant major but non-lethal fetal anomalies between January 2004 and February 2015 were retrospectively reviewed. Patients were grouped into three, according to the gestational age at which selective termination of pregnancies was performed; Group 1 (15-19 weeks), Group 2 (20-24 weeks) and Group 3 (30-33 weeks)...
July 18, 2016: Journal of Maternal-fetal & Neonatal Medicine
M Roethlisberger, B Strizek, I Gottschalk, M R Mallmann, A Geipel, U Gembruch, C Berg
OBJECTIVE: To evaluate the outcome of first trimester intervention (12(+0) to 14(+0) weeks of gestation) in pregnancies complicated by TRAP sequence. METHODS: From the year 2010 onward, all patients diagnosed with monochorionic diamniotic TRAP sequence undergoing intrafetal laser ablation (IFL) of the feeding vessels ≤ 14(+0) weeks of gestation at the University of Bonn were retrospectively analysed for intrauterine course and outcome. RESULTS: In the study period twelve patients were treated...
July 8, 2016: Ultrasound in Obstetrics & Gynecology
Maian Roifman, Sanaa Choufani, Andrei L Turinsky, Sascha Drewlo, Sarah Keating, Michael Brudno, John Kingdom, Rosanna Weksberg
BACKGROUND: Intrauterine growth restriction (IUGR), which refers to reduced fetal growth in the context of placental insufficiency, is etiologically heterogeneous. IUGR is associated not only with perinatal morbidity and mortality but also with adult-onset disorders, such as cardiovascular disease and diabetes, posing a major health burden. Placental epigenetic dysregulation has been proposed as one mechanism that causes IUGR; however, the spectrum of epigenetic pathophysiological mechanisms leading to IUGR remains to be elucidated...
2016: Clinical Epigenetics
Tatiana R M M Fernandes, Paulo R N Carvalho, Fernanda B Flosi, Ana Elisa R Baião, Sant Claire G Junior
A dramatic increase in twin pregnancies has been observed in the past few decades, primarily related to assisted reproductive techniques (ART) and increased average maternal age during pregnancy. Multiple pregnancies, compared to singleton pregnancies, are associated with greater perinatal morbidity and mortality. The present study evaluated the perinatal outcomes of pregnancies with discordant anomalous twins in a tertiary maternity ward in a developing country. Data were retrospectively collected from the Instituto Fernandes Figueira/FIOCRUZ, Brazil between January 2002 and December 2014...
August 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Ruan Peng, Yi Zhou, Hong-Ning Xie, Ju Zheng, Ying-Jun Xie, Jian-Bo Yang
OBJECTIVE: To evaluate whether discrepant copy number variations (CNVs) contribute to the risk for discordant congenital anomalies in monochorionic diamniotic (MCDA) twins. METHODS: We conducted a parallel testing using both G-banding for standard karyotyping and chromosomal microarray analysis (CMA) with Affymetrix CytoScan HD array in MCDA twins with discordant malformations. RESULTS: During the study period, 193 MCDA twins with discordant malformations were detected and followed up...
August 2016: Prenatal Diagnosis
Mark P Hehir, Fionnuala M Breathnach, Fionnuala M McAuliffe, Michael P Geary, Sean Daly, John Higgins, Alyson Hunter, John J Morrison, Gerard Burke, Shane Higgins, Rhona Mahony, Patrick Dicker, Elizabeth C Tully, Fergal D Malone
OBJECTIVE: Gestational hypertensive disease (GHD) is associated with pregnancy-related complications and poor maternal and fetal outcomes in singleton pregnancies. We sought to examine the influence of GHD in a large prospective cohort of twin pregnancies. STUDY DESIGN: The ESPRIT study was a national multicenter observational cohort study of 1028 structurally normal twin pregnancies. Each pregnancy underwent sonographic surveillance with two-week ultrasound from 24 weeks for dichorionic and from 16 weeks for monochorionic gestations...
June 15, 2016: Australian & New Zealand Journal of Obstetrics & Gynaecology
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