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Fetal discordance

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https://www.readbyqxmd.com/read/28727976/monozygotic-twins-discordant-for-trisomy-13-a-case-of-trisomic-rescue-supporting-the-continued-need-for-first-trimester-ultrasound
#1
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail T Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28704197/expectant-management-in-di-chorionic-pregnancies-complicated-by-discordant-anomalous-twin
#2
Paola Algeri, Francesca M Russo, Maddalena Incerti, Sabrina Cozzolino, Francesca Pelizzoni, Davido P Bernasconi, Luca Montanelli, Luca Locatelli, Patrizia Vergani
Fetal malformations are more frequent in twins than in singletons. The aim of our study was to define the influence of a malformed twin on di-chorionic pregnancy outcomes. We performed a retrospective cohort study of di-chorionic pregnancies delivered between 2000 and 2015. Exclusion criteria were: both twins affected by fetal malformations, double intra-uterine fetal death in pregnancies without fetal malformation, selective feticide and therapeutic pregnancy termination. We compared maternal and fetal outcomes of di-chorionic pregnancies not complicated by fetal malformations with pregnancies affected by a single malformed fetus with conservative management...
July 12, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28695339/different-information-by-mri-compare-to-ultrasound-in-fetal-intracranial-space-occupying-lesions
#3
Wei Xia, Gregor Kasprian, Daoyu Hu, Peng Xiao, Wenzhong Yang, Xinlin Chen
PURPOSE: The purpose of this study was to evaluate the value of prenatal magnetic resonance imaging (MRI) in characterizing fetal intracranial space occupying lesions in comparison to prenatal ultrasound. METHODS: This retrospective study included 50 fetuses (mean age 26 years, mean gestational weeks 31 + 1 GW) with intracranial space occupying lesions, suspected by prenatal screening ultrasound. T2-weighted, T1-weighted, SSFP, and diffusion-weighted sequences of the fetal brain were obtained on a 1...
July 10, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28691603/dichorionic-twins-discordant-for-massive-perivillous-fibrinoid-deposition-report-of-a-case-and-review-of-the-literature
#4
Ona Faye-Petersen, Adrienne Sauder, Ydamis Estrella, Debra S Heller
Massive perivillous fibrinoid deposition (MFD) and maternal floor infarction (MFI) are lesions of unknown etiology associated with poor perinatal outcomes, including fetal intrauterine growth restriction and neurodevelopmental injury, high risks of pregnancy loss, and recurrence in subsequent gestations. MFI comprises massive intervillous fibrinoid deposition concentrated at the maternal floor. MFD is a similar lesion but is diffuse within the parenchyma. MFD/MFI lesions represent a spectrum of severity of cloak-like perivillous fibrinoid deposition, and there is mounting evidence that, often, they represent sequelae of immune-mediated phenomena and/or an imbalance in factors that normally maintain the fluidity of blood in the maternal space...
July 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#5
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28622784/first-trimester-inter-and-intrafetal-size-discrepancies-in-bichorionic-twins-conceived-by-in%C3%A2-vitro-fertilization-can-it-predict-pregnancy-outcome
#6
Ron Bardin, Galia Oron, Yael Levy, Onit Sapir, Israel Meizner, Benjamin Fisch, Arnon Wiznitzer, Eran Hadar
OBJECTIVE: To evaluate the association between first-trimester inter- and intrafetal size discrepancies and pregnancy outcome, among bichorionic-biamniotic twins conceived by IVF. DESIGN: A retrospective study design was used. SETTING: Tertiary university-affiliated medical center. PATIENT(S): All women with a viable first-trimester bichorionic-biamniotic twin gestation, who conceived after IVF in 2007-2015. INTERVENTION(S): None...
June 13, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28620499/intrauterine-death-following-intraamniotic-triiodothyronine-and-thyroxine-therapy-for-fetal-goitrous-hypothyroidism-associated-with-polyhydramnios-and-caused-by-a-thyroglobulin-mutation
#7
Pradeep Vasudevan, Corrina Powell, Adeline K Nicholas, Ian Scudamore, James Greening, Soo-Mi Park, Nadia Schoenmakers
In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios, prompting amniotic fluid drainage and intraamniotic therapy (with liothyronine, T3 and levothyroxine, T4)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28569757/fetal-and-postnatal-metal-dysregulation-in-autism
#8
Manish Arora, Abraham Reichenberg, Charlotte Willfors, Christine Austin, Chris Gennings, Steve Berggren, Paul Lichtenstein, Henrik Anckarsäter, Kristiina Tammimies, Sven Bölte
Genetic and environmental factors contribute to the etiologies of autism spectrum disorder (ASD), but evidence of specific environmental exposures and susceptibility windows is limited. Here we study monozygotic and dizygotic twins discordant for ASD to test whether fetal and postnatal metal dysregulation increases ASD risk. Using validated tooth-matrix biomarkers, we estimate pre- and post-natal exposure profiles of essential and toxic elements. Significant divergences are apparent in metal uptake between ASD cases and their control siblings, but only during discrete developmental periods...
June 1, 2017: Nature Communications
https://www.readbyqxmd.com/read/28566836/apparent-normal-arrangement-pattern-of-three-vessel-view-in-a-fetus-with-transposition-of-great-arteries-and-l-malposed-aorta
#9
Sudeep Verma, Shanthi Chidambaratanu, Raja Vijaylakshmi, Latha Srinivasan, Indrani Suresh
Transposition of great arteries (TGA) is more commonly associated with D-malposition of great arteries where anterior aorta produces characteristic "I" sign in the three-vessel view (3VV) in fetal heart imaging. We describe two cases with TGA and L-malposition of aorta where 3VV imaging showed an apparently normal arrangement of vessels while outflow tract imaging proved vital in diagnosing transposition anatomy. Apparently, normal 3VV in the presence of disproportionate vessel caliber and inability to produce normal outflow images should raise the suspicion...
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#10
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28541280/a-quantitative-csmart-assay-for-noninvasive-prenatal-screening-of-autosomal-recessive-nonsyndromic-hearing-loss-caused-by-gjb2-and-slc26a4-mutations
#11
Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram, Pu Dai
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART)...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28484895/diagnosis-of-umbilical-cord-entanglement-in-a-monochorionic-diamniotic-twin-pregnancy-with-spontaneous-septostomy-of-the-dividing-membranes-using-dual-gate-doppler-imaging
#12
Ayumu Ito, Masahiko Nakata, Ayako Oji, Mayumi Takano, Nahomi Umemura, Sumito Nagasaki, Toshimitsu Maemura, Mineto Morita
Umbilical cord entanglement is the leading cause of fetal mortality in monoamniotic twin pregnancies and a pseudo monoamniotic environment. Published methods for detecting this complication include color Doppler and pulsed Doppler sonography; however, no method provides an absolute diagnosis. In this case, we report the diagnosis of umbilical cord entanglement using dual-gate Doppler imaging. A 35-year-old woman was referred to our hospital at 28 weeks of gestation for prenatal management because of diagnosis of a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes...
May 8, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28453870/clinically-relevant-discordances-identified-after-tertiary-reassessment-of-fetuses-with-isolated-congenital-diaphragmatic-hernia
#13
Elisa Done, Leonardo Gucciardo, Tim Van Mieghem, Koen Devriendt, Karel Allegaert, Paul Brady, Roland Devlieger, Luc De Catte, Liesbeth Lewi, Jan Deprest
OBJECTIVE: Fetoscopic Endoluminal Tracheal Occlusion (FETO) may improve outcome of severe isolated Congenital Diaphragmatic Hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following counseling for fetal surgery. DESIGN: Single centre retrospective study on patients with presumed iCDH either referred for assessment and counseling or referred for fetal surgery...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28441900/placental-nfe2l2-is-discordantly-activated-in-monochorionic-twins-with-selective-intrauterine-growth-restriction-and-possibly-regulated-by-hypoxia
#14
Jing Wu, Zhiming He, Yu Gao, Guanglan Zhang, Xuan Huang, Qun Fang
INTRODUCTION: Nuclear factor, erythroid 2 like 2 (NFE2L2) is an important transcription factor that protects cells from oxidative stress (OS). NFE2L2 deficiency in placentas is associated with pregnancy complications. We have demonstrated that elevated OS existed in placental shares of the smaller fetus in selective intrauterine growth restriction (sIUGR); however, the role of NFE2L2 in the development of sIUGR remains unknown. In this study, we examined the levels of NFE2L2 and heme oxygenase 1 (HMOX1), a major antioxidant regulated by NFE2L2, in sIUGR placentas...
April 25, 2017: Free Radical Research
https://www.readbyqxmd.com/read/28421145/a-framework-for-describing-the-influence-of-service-organisation-and-delivery-on-participation-in-fetal-anomaly-screening-in-england
#15
Hyacinth O Ukuhor, Janet Hirst, S José Closs, William J Montelpare
Objective. The aim of this research was to explore the influence of service organisation and delivery on providers and users' interactions and decision-making in the context of Down's syndrome screening. Methods. A qualitative descriptive study involving online interviews conducted with a purposive sample of 34 community midwives, 35 pregnant women, and 15 partners from two maternity services in different health districts in England. Data were analysed using a combination of grounded theory principles and content analysis and a framework was developed...
2017: Journal of Pregnancy
https://www.readbyqxmd.com/read/28382695/discordant-non-invasive-prenatal-testing-nipt-a-systematic-review
#16
REVIEW
Tanja Schlaikjaer Hartwig, Louise Ambye, Steen Sørensen, Finn Stener Jørgensen
With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced, and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total, 206 discordant cases were included, of which 88% were false positive and 12% false negative...
April 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28355685/-clinical-outcome-and-placenta-characteristics-of-spontaneous-twin-anemia-polycythemia-sequence
#17
X J Wang, L Y Li, Y Wei, Y Y Zhao, P B Yuan
Objective: To investigate the clinical outcome and placental characteristics of spontaneous twin anemia-polycythemia sequence (sTAPS). Methods: Twelve cases with sTAPS delivered in Peking University Third Hospital from May 2013 to August 2016. The data of ultrasound characteristics, gestational age at delivery, and 1 minute Apgar score were analyzed, retrospectively. Placental superficial vascular anastomoses, placental territory discordance and the ratio of umbilical cords insertion distance to the longest placental diameter were also analyzed...
March 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28348386/perinatal-risk-factors-in-tourette-s-and-chronic-tic-disorders-a-total-population-sibling-comparison-study
#18
G Brander, M Rydell, R Kuja-Halkola, L Fernández de la Cruz, P Lichtenstein, E Serlachius, C Rück, C Almqvist, B M D'Onofrio, H Larsson, D Mataix-Cols
Adverse perinatal events may increase the risk of Tourette's and chronic tic disorders (TD/CTD), but previous studies have been unable to control for unmeasured environmental and genetic confounding. We aimed to prospectively investigate potential perinatal risk factors for TD/CTD, taking unmeasured factors shared between full siblings into account. A population-based birth cohort, consisting of all singletons born in Sweden in 1973-2003, was followed until December 2013. A total of 3 026 861 individuals were identified, 5597 of which had a registered TD/CTD diagnosis...
March 28, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28314387/twin-pregnancy-complicated-by-esophageal-atresia-duodenal-atresia-gastric-perforation-and-hypoplastic-left-heart-structures-in-one-twin-a-case-report-and-review-of-the-literature
#19
Mohamad K Abou Chaar, Mariana L Meyers, Bethany D Tucker, Henry L Galan, Kenneth W Liechty, Timothy M Crombleholme, Ahmed I Marwan
BACKGROUND: The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy...
March 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28303777/placental-up-regulation-of-leptin-and-arms2-is-associated-with-growth-discordance-in-monochorionic-diamniotic-twin-pregnancies
#20
Luming Sun, Jia Zhou, Kai Wang, Jian Wang, Ling Shang, Jianguang Zhang, Junqing Wu, David S Cram
Fetal growth discordance is a relatively common complication of monochorionic diamniotic (MCDA) twin pregnancies and is caused by a combination of maternal and placental factors. The aim of the study was to survey placental gene expression patterns and identify genes associated with growth discordance. Clinical samples comprised eight growth-discordant MCDA twin placentas (31+3-34+4 weeks gestational age) and six growth-concordant twin placentas (31+2-37 weeks gestational age). Gene expression libraries were constructed from placental biopsy samples and analyzed by RNA-sequencing...
April 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
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