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Fetal discordance

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https://www.readbyqxmd.com/read/29316011/roles-of-venovenous-anastomosis-and-umbilical-cord-insertion-abnormalities-in-birthweight-discordance-in-monochorionic-diamniotic-twin-pregnancies-without-twin-twin-transfusion-syndrome
#1
Hiroko Konno, Takeshi Murakoshi, Akiko Yamashita, Mitsuru Matsushita
AIM: We evaluated risk factors for birthweight discordance in monochorionic diamniotic (MCDA) twin pregnancies without twin-twin transfusion syndrome (TTTS). METHODS: We investigated all MCDA twin placentas injected with colored dye at our institution between 2007 and 2015. We excluded pairs of twins with TTTS, fetal demise, or severe fetal malformation. All pairs of twins were assigned to the discordant group (birthweight discordance ≥ 25%) or the concordant group (birthweight discordance < 25%)...
January 5, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29314091/the-relationship-between-preoperative-fetal-head-circumference-and-2-year-cognitive-performance-after-laser-surgery-for-twin-twin-transfusion-syndrome
#2
Andrew H Chon, Mary Rose Mamey, Sheree M Schrager, Douglas L Vanderbilt, Ramen H Chmait
OBJECTIVE: To determine the relationship between preoperative fetal head circumference (HC) and cognitive performance among children treated with laser surgery for twin-twin transfusion syndrome (TTTS). METHODS: Donor and recipient twin HCs were measured preoperatively (16 - 26 weeks' gestation) and at 2 years corrected age. Multilevel multivariate regression models were used to test pregnancy and child-level risk factors for lower Battelle Developmental Inventory 2nd Edition (BDI-2) scores...
January 4, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29301441/use-of-the-fetal-myocardial-performance-index-in-monochorionic-diamniotic-twin-pregnancy-a-prospective-cohort-and-nested-case-control-study
#3
Amanda Henry, Saranya Gopikrishna, Aditi Mahajan, Jennifer Alphonse, Neama Meriki, Alec W Welsh
AIMS: Assess clinical utility of the fetal Myocardial Performance Index (MPI) in evaluation and management of monochorionic, diamniotic twin (MCDA) pregnancies. METHODS: Prospective cohort of a) initially uncomplicated MCDA b) Complicated MCDA, including twin-twin transfusion syndrome (TTTS), selective intrauterine growth restriction (sIUGR), and liquor and/or growth discordance (L/GD) not meeting TTTS or sIUGR criteria. TTTS and sIUGR were case-control matched...
January 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29297658/current-perspectives-on-the-use-of-fetal-fibronectin-testing-in-preterm-labor-diagnosis-and-management
#4
Michael S Ruma, Katie C Bittner, Clara B Soh
One in 10 infants in the United States is delivered preterm (ie, before the 37th week of pregnancy), contributing to the significant burden on the national healthcare system. Nevertheless, a lack of agreement continues among obstetric professional societies on guidelines for standardization of the approach to the diagnosis and management of patients with symptoms of preterm labor (PTL). This disparity in consensus has likely resulted in poor identification of women at an increased risk for preterm birth (PTB)...
December 2017: American Journal of Managed Care
https://www.readbyqxmd.com/read/29286910/selective-iugr-in-dichorionic-twins-what-can-doppler-assessment-and-growth-discordancy-say-about-neonatal-outcomes
#5
Paola Algeri, Matteo Frigerio, Maria Lamanna, Petya Vitanova Petrova, Sabrina Cozzolino, Maddalena Incerti, Salvatore Andrea Mastrolia, Nadia Roncaglia, Patrizia Vergani
OBJECTIVE: The aim of the present study was to assess, in a population of dichorionic twin pregnancies with selective growth restriction, the effect of inter-twin differences by use of Doppler velocimetry and fetal growth discordancy on perinatal outcomes. METHODS: This was a retrospective study including dichorionic twin pregnancies from January 2008 to December 2015 at the Department of Obstetrics and Gynecology of Fondazione MBBM. Only dichorionic twin pregnancies affected by selective intrauterine growth restriction (IUGR) delivering at ≥24 weeks were included in the study...
December 29, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29239474/maternal-liver-transplant-another-cause-of-discordant-fetal-sex-determination-using-cell-free-dna
#6
Maria Neofytou, Nathalie Brison, Kris Van den Bogaert, Luc Dehaspe, Koen Devriendt, Anja Geerts, Joris R Vermeesch
NIPT can very accurately determine fetal sex during pregnancy. We present an exceptional case where NIPT contradicts the ultrasound based sex determination. The pregnant woman was recipient of a liver transplant from a male donor. Graft-derived cell-free DNA released into the maternal circulation clouded the NIPT based sex determination. Hence, NIPT is not advisable when the pregnant mother underwent an organ transplant.
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29232060/cover-image-volume-176a-number-1-january-2018
#7
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
The cover image, by Satoru Ikenoue et al., is based on the Clinical Report Discordant fetal phenotype of hypophosphatasia in two siblings, DOI: 10.1002/ajmg.a.38531.
January 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#8
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29214412/gestational-age-at-birth-and-risk-of-intellectual-disability-without-a-common-genetic-cause
#9
Hein Heuvelman, Kathryn Abel, Susanne Wicks, Renee Gardner, Edward Johnstone, Brian Lee, Cecilia Magnusson, Christina Dalman, Dheeraj Rai
Preterm birth is linked to intellectual disability and there is evidence to suggest post-term birth may also incur risk. However, these associations have not yet been investigated in the absence of common genetic causes of intellectual disability, where risk associated with late delivery may be preventable. We therefore aimed to examine risk of intellectual disability without a common genetic cause across the entire range of gestation, using a matched-sibling design to account for unmeasured confounding by shared familial factors...
December 6, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/29212571/expression-of-homeobox-gene-hlx-and-its-downstream-target-genes-are-altered-in-placentae-from-discordant-twin-pregnancies
#10
Nicola Yuen, Shaun P Brennecke, Mark P Umstad, Hannah E J Yong, Anthony J Borg, Gayathri Rajaraman, Bill Kalionis, Padma Murthi
A discordant twin gestation, in which one fetus is significantly growth restricted, compared to the other normal twin, is a unique model that can be used to elucidate the mechanism(s) by which the intrauterine environment affects fetal growth. In many model systems, placental transcription factor genes regulate fetal growth. Transcription factors regulate growth through their activation or repression of downstream target genes that mediate important cell functions. The objective of this study was to determine the expression of the placental HLX homeobox gene transcription factor and its downstream target genes in dizygotic twins with growth discordance...
December 7, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/29205694/fetal-sex-discordance-in-a-monochorionic-twin-pregnancy-following-intracytoplasmic-sperm-injection-a-case-report-of-chimerism-and-review-of-the-literature
#11
Nihal Ş Uysal, Çağrı Gülümser, Zerrin Y Çelik, Hulusi B Zeyneloğlu, Filiz F B Yanık
A 39-year-old woman who became pregnant with twins after an intracytoplasmic sperm injection was referred at the ninth gestational week to determine chorionicity. Ultrasonographic examination showed a monochorionic diamniotic twin pregnancy. First trimester nuchal translucency measurements of the fetuses were 1.6 and 2.7 mm. A non-invasive prenatal test was performed and revealed low risk. One fetus appeared to be female and the other male at the 14th gestational week. Second trimester anatomic scanning results were otherwise normal for both fetuses...
December 3, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29172821/risk-of-donor-demise-after-laser-therapy-for-twin-twin-transfusion-when-complicated-by-growth-discordance-and-abnormal-umbilical-artery-doppler-findings
#12
Matthew M Finneran, Megan A Templin, Courtney D Stephenson
OBJECTIVE: To investigate the natural course of abnormal umbilical artery Doppler (UAD) findings in donor fetuses after laser surgery and the prognostic significance of resolution, persistence, or new onset UAD abnormalities with and without the presence of preoperative growth discordance. STUDY DESIGN: Retrospective cohort study of all monochorionic-diamniotic multi-fetal gestations diagnosed with twin-twin transfusion syndrome (TTTS) undergoing laser surgery at a single large metropolitan referral center from 2010-2016...
November 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#13
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29155475/weight-discordance-and-perinatal-mortality-in-twin-pregnancies-a-systematic-review-and-meta-analysis
#14
REVIEW
Francesco D'Antonio, Anthony O Odibo, Federico Prefumo, Asma Khalil, Danilo Buca, Maria Elena Flacco, Marco Liberati, Lamberto Manzoli, Ganesh Acharya
OBJECTIVES: The primary aim of this systematic review was to explore the strength of association between birthweight (BW) discordance and perinatal mortality in twin pregnancies; the secondary aim was to ascertain the contribution of gestational age and growth restriction in determining mortality in growth discordant twins. METHODS: Medline, Embase, Cinahl and Clinicaltrials.gov databases were searched. Only studies reporting the risk of mortality in twin pregnancies affected compared to those not affected by weight discordance were included...
November 20, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29146286/-genital-herpes-and-pregnancy-epidemiology-clinical-manifestations-prevention-and-screening-guidelines-for-clinical-practice-from-the-french-college-of-gynecologists-and-obstetrician-cngof
#15
O Picone
OBJECTIVES: To analyze the consequences of genital herpes infections in pregnant women. METHODS: The PubMed database and the recommendations from the French and foreign obstetrical societies or colleges have been consulted. RESULTS: The symptomatology of herpes genital rash is often atypical (NP2) and not different during pregnancy (Professional consensus). It is most often due to HSV2 (NP2). Seventy percent of pregnant patients have a history of infection with Herpes simplex virus, without reference to genital or labial localization, and this is in most cases type 1 (NP2)...
November 13, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29131362/sex-discordance-identification-following-non-invasive-prenatal-testing
#16
Ebony J Richardson, Fergus P Scott, Andrew C McLennan
OBJECTIVE: To characterize genotype-phenotype discordance identified in the routine clinical setting, and explore the associated diagnostic and counseling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multi-site specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and mid-trimester fetal morphology assessment. RESULTS: Seven cases of genotype-phenotype discordance were identified from a cohort of 12,919 women between June 2013 - March 2017 (incidence 1/1845 pregnancies)...
November 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29096879/non-invasive-fetal-rhd-genotyping-for-rhd-negative-women-stratified-into-rhd-gene-deletion-or-variant-groups-comparative-accuracy-using-two-blood-collection-tube-types
#17
Catherine A Hyland, Glenda M Millard, Helen O'Brien, Elizna M Schoeman, Genghis H Lopez, Eunike C McGowan, Anne Tremellen, Rachel Puddephatt, Kirsten Gaerty, Robert L Flower, Jonathan A Hyett, Glenn J Gardener
Non-invasive fetal RHD genotyping in Australia to reduce anti-D usage will need to accommodate both prolonged sample transport times and a diverse population demographic harbouring a range of RHD blood group gene variants. We compared RHD genotyping accuracy using two blood sample collection tube types for RhD negative women stratified into deleted RHD gene haplotype and RHD gene variant cohorts. Maternal blood samples were collected into EDTA and cell-free (cf)DNA stabilising (BCT) tubes from two sites, one interstate...
October 30, 2017: Pathology
https://www.readbyqxmd.com/read/29045850/comparison-of-conventional-2d-ultrasound-to-mr-imaging-for-prenatal-estimation-of-birth-weight-in-twin-pregnancy
#18
Caroline Kadji, Elisa Bevilacqua, Ivan Hurtado, Andrew Carlin, Mieke M Cannie, Jacques C Jani
BACKGROUND: During prenatal follow-up of twin pregnancies, accurate identification of birthweight and birthweight discordance is important in order to identify the high risk group and plan perinatal care. Unfortunately prenatal evaluation of birthweight discordance by 2-dimensional ultrasound (US) has been far from optimal. OBJECTIVE: To prospectively compare estimates of fetal weight based on 2-dimensional US (US-EFW) and MR imaging (MR-EFW) to actual birth weight in women carrying twin pregnancies...
October 15, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29024208/does-the-site-of-the-cord-insertion-increase-the-risk-of-adverse-outcome-twin-to-twin-transfusion-syndrome-and-discordant-growth-in-monochorionic-twin-pregnancies
#19
Isabel Couck, Nada Mourad Tawfic, Jan Deprest, Luc De Catte, Roland Devlieger, Liesbeth Lewi
BACKGROUND: It is insufficiently known to what degree the site of the cord insertions influences the risk of a complicated outcome in monochorionic twin pregnancies. OBJECTIVES: The purpose is to examine if the site of cord insertions as determined on prenatal ultrasound scan increases the risk of adverse outcome -defined as fetal or neonatal loss or birth prior to 32 weeks-, twin-to-twin transfusion syndrome (TTTS) and discordant growth. METHODS: We retrospectively studied a consecutive cohort of monochorionic diamniotic twin pregnancies followed from the first trimester...
October 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29020780/-selective-feticide-in-monochorionic-twin-pregnancies-with%C3%A2-discordant-fetal-anomalies-management-and-outcome
#20
J Vojtěch, L Hašlík, R Pock, K Běhávková, K Macková, P Hanulíková, H Heřman, L Krofta
OBJECTIVE: To analyze results and outcome after selective feticide for discordant anomalies in monochorionic twins. DESIGN: Prospective cohort study. SETTING: Fetal medicine center, Institute for the Care of Mother and Child, Praha. METHODS: Analysis of outcome of monochorionic pregnancies after intrauterine surgery for structural abnormalities between January 2013 and June 2016. RESULTS: We performed 13 intrauterine operations in monochorionic twins with structural anomalies during the period...
2017: Ceská Gynekologie
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