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Fetal discordance

Kathryn J Gray, Louise E Wilkins-Haug
Prenatal aneuploidy screening changed significantly in 2012 when cell-free fetal deoxyribonucleic acid (DNA) was introduced as a noninvasive prenatal test. A noninvasive prenatal test detects cell free fragments of fetal DNA from the placenta circulating in maternal blood that coexist with cell-free DNA (cfDNA) of maternal origin. Using next-generation sequencing, the noninvasive prenatal test compares maternal and fetal cfDNA ratios for chromosomes of interest (i.e., 21, 18, 13, X, and Y) to assess chromosomal aneuploidy...
April 2018: Pediatric Radiology
Ravi Shankar Swamy, Helen McConachie, Jane Ng, Judith Rankin, Murthy Korada, Stephen Sturgiss, Nicholas D Embleton
AIM: Intrauterine growth restriction (IUGR) is associated with poorer outcomes in later life. We used a monochorionic twin model with IUGR in one twin to determine its impact on growth and neurocognitive outcomes. METHODS: Monochorionic twins with ≥20% birth weight discordance born in the north of England were eligible. Cognitive function was assessed using the British Ability Scales. The Strength and Difficulties Questionnaire was used to identify behavioural problems...
March 2, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
Angelo F Elmi, Katherine L Grantz, Paul S Albert
Joint modeling of multivariate paired longitudinal data and time-to-event data presents computational challenges that supersede full likelihood estimation due to the large dimensional random effects vector needed to capture correlation due to clustering with respect to pairs, subjects, and outcomes. We propose an alternative, computationally simpler approach to estimation of complex shared parameter models where missing data is imputed based on the Posterior Predictive Distribution from a Conditional Linear Model (CLM) approximation...
February 28, 2018: Biometrics
Jing Lu, Yvonne Kwun Yue Cheng, Yuen Ha Ting, Kwok Ming Law, Tak Yeung Leung
Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) Discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in one fetus, or dizygotic twins forming a monochorionic placenta; (2) Separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) False negative and false positive λ sign can arise for various reasons, and in partial monochorionic / dichorionic placentas both T and λ sign may co-exist; (4) Intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; (5) Errors in ascertaining amnionicity by the visualization of thin inter-twin amniotic membranes and the number of yolk sacs...
February 17, 2018: American Journal of Obstetrics and Gynecology
Laura M Carlson, Emily Hardisty, Catherine C Coombs, Neeta L Vora
Cell-free DNA screening for fetal aneuploidy is a commonly used testing strategy in pregnancies at high risk for fetal aneuploidy. The use of cell-free DNA screening is expanding to the low-risk population, because the detection rate for trisomy 21 surpasses that of traditional screening modalities. Although the sensitivity and specificity of cell-free DNA are superior to traditional screening, false-positive results do occur and may indicate an adverse maternal health condition, including maternal mosaicism or, rarely, malignancy...
March 2018: Obstetrics and Gynecology
Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cell-free maternal plasma DNA in the maternal blood plasma. However, false positive and negative non-invasive prenatal testing (NIPT) results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA screening...
January 31, 2018: Prenatal Diagnosis
Asma Khalil, Irene Beune, Kurt Hecher, Klaske Wynia, Wessel Ganzevoort, Keith Reed, Liesbeth Lewi, Dick Oepkes, Eduardo Gratacos, Basky Thilaganathan, Sanne J Gordijn
OBJECTIVES: Twin pregnancies complicated by selective fetal growth restriction (sFGR) are associated with increased perinatal mortality and morbidity. Inconsistences in the diagnostic criteria for sFGR employed in existing studies hinder the ability to compare or combine their findings. It is therefore challenging to establish robust evidence-based management or monitoring pathways for these pregnancies. The main aim of this study was to determine, by expert consensus using a Delphi procedure, the key diagnostic features of and the essential reporting parameters in sFGR...
January 24, 2018: Ultrasound in Obstetrics & Gynecology
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
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 Second Edition (BDI-2) scores...
January 4, 2018: Prenatal Diagnosis
Amanda Henry, Saranya Gopikrishna, Aditi Mahajan, Jennifer Alphonse, Neama Meriki, Alec W Welsh
AIMS: Assess clinical utility of the foetal 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 18, 2018: Journal of Maternal-fetal & Neonatal Medicine
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
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
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
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
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
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
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...
February 2018: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
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...
March 2018: Journal of Obstetrics and Gynaecology Research
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
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...
January 2018: American Journal of Medical Genetics. Part A
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