keyword
MENU ▼
Read by QxMD icon Read
search

Fetal discordance

keyword
https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28976606/the-significance-of-placental-cord-insertion-site-in-twin-pregnancy
#9
Erkan Kalafat, Basky Thilaganathan, Aris Papageorghiou, Amar Bhide, Asma Khalil
OBJECTIVE: The aim of this study was to investigate the association between abnormal cord insertion and the development of the twin-specific complications, including birthweight discordance, selective fetal growth restriction (sFGR) and twin-to-twin transfusion syndrome (TTTS). METHODS: A single-center cohort study of twin pregnancies. Abnormal cord insertion was defined as either marginal (cord attachment site less than 2cm to the nearest margin of the placental disc) or velamentous (when the umbilical cord was attached to the membrane before reaching the placental disc with clear evidence of vessels traversing the membranes to connect with the placental disc), as described in placental pathology reports...
October 4, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28911011/evaluating-the-relationship-between-birth-weight-for-gestational-age-and-adult-blood-pressure-using-participants-from-a-cohort-of-same-sex-siblings-discordant-on-birth-weight-percentile
#10
Linda G Kahn, Stephen L Buka, Piera M Cirillo, Barbara A Cohn, Pam Factor-Litvak, Matthew W Gillman, Ezra Susser, L H Lumey
Many studies have described an inverse relationship between birth weight and blood pressure (BP). Debate continues, however, over the magnitude and validity of the association. This analysis draws on the Early Determinants of Adult Health study (2005-2008), a cohort of 393 US adults (mean age 43 years; 47% male), including 114 same-sex sibling pairs deliberately sampled to be discordant on sex-specific birth weight for gestational age (BW/GA) in order to minimize confounding in studies of fetal growth and midlife health outcomes...
September 1, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28869935/fetal-aneuploidy-a-comparison-of-dichorionic-twins-and-monochorionic-twins
#11
Xiaomei Shi, Lin Li, Xuan Huang, Baojiang Chen, Yi Zhou, Qun Fang
OBJECTIVE: To assess the clinical characteristics of fetal aneuploidy between dichorionic twins (DCT) and monochorionic twins (MCT) undergoing invasive prenatal diagnosis. METHODS: Twin fetuses undergoing invasive prenatal diagnosis were enrolled in this study. All twin fetuses were classified into 2 groups according to chorionicity. The rates of fetal aneuploidy in different groups were compared. RESULT: This study included 1,714 fetuses (857 sets of twin pairs); among them, 1,190 were DCT and 524 were MCT...
September 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28855395/rare-autosomal-trisomies-revealed-by-maternal-plasma-dna-sequencing-suggest-increased-risk-of-feto-placental-disease
#12
Mark D Pertile, Meredith Halks-Miller, Nicola Flowers, Catalin Barbacioru, Sarah L Kinnings, Darcy Vavrek, William K Seltzer, Diana W Bianchi
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or pregnant woman. Current bioinformatics algorithms typically only report on chromosomes 21, 18, 13, X, and Y; sequencing results from other chromosomes may be masked. We hypothesized that by systematically analyzing WGS data from all chromosomes, we could identify rare autosomal trisomies (RATs) to improve understanding of feto-placental biology...
August 30, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28838266/recurrence-of-extreme-serum-analytes-in-consecutive-pregnancies-and-association-with-obstetrical-outcomes
#13
Shelly Soni, David A Krantz, Meir Greenberg, Nidhi Vohra, Burton Rochelson
OBJECTIVE: To evaluate if presence of extreme maternal serum biochemical analytes recurs in consecutive pregnancies. We hypothesized that presence of >1 extreme analyte in prior pregnancy is associated with increased risk of adverse pregnancy outcome in subsequent pregnancy. METHODS: Retrospective cohort study of singleton pregnancies evaluated and delivered in 2 consecutive pregnancies (2011-2015). Adverse outcomes were defined as indicated preterm delivery before 37 completed weeks due to preeclampsia, fetal growth restriction or other complications...
September 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28837243/clinical-accuracy-of-abnormal-cell-free-fetal-dna-cfdna-results-for-the-sex-chromosomes
#14
Emily W Scibetta, Stephanie G Valderramos, Rashmi R Rao, Neil S Silverman, Christina S Han, Lawrence D Platt
OBJECTIVE: To investigate factors associated with abnormal cell-free DNA (cfDNA) results for sex chromosomes (SC). Study Design This is a retrospective cohort study of abnormal cfDNA results for SC at a referral practice, from March 2013 to July 2015. CfDNA results were abnormal if they were positive for SC aneuploidy (SCA), inconclusive, or discordant with ultrasound (US) findings. Primary outcome was concordance with karyotype or postnatal evaluation. RESULTS: Of fifty abnormal cfDNA results for SC, 31 patients (62%) were positive for SCA, 13 (26%) were inconclusive, and 6 (12%) were sex-discordant on US...
August 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28781851/cell-free-dna-results-lead-to-unexpected-diagnosis
#15
Jessica Smith, Victoria Kean, Diana W Bianchi, Gerald Feldman, Nancie Petrucelli, Michael Simon, Bernard Gonik
Maternal cell-free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a "saw-tooth" pattern characteristic of genome-wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28770119/first-report-on-fetal-cerebral-polyglucosan-bodies-in-mucopolysaccharidosis-type-vii
#16
Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D'Haene
We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28755531/the-role-of-ultrasound-in-the-prediction-of-birth-weight-discordance-in-twin-pregnancies-are-we-there-yet
#17
Ana Raquel Neves, Filipa Nunes, Miguel Branco, Maria do Céu Almeida, Isabel Santos Silva
OBJECTIVE: To analyze the accuracy of ultrasound prediction of birth weight discordance (BWD) and the influence of chorionicity and fetal growth restriction (FGR) on ultrasound performance. METHODS: Retrospective analysis of 176 twin pregnancies at a Portuguese tertiary center, between 2008 and 2014. Last ultrasound biometry was recorded. Cases with delivery before 24 weeks, fetal malformations, interval between last ultrasound and deliver >3 weeks, twin-to-twin transfusion syndrome and monoamniotic pregnancies were excluded...
July 29, 2017: Journal of Perinatal Medicine
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
#18
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
#19
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
#20
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...
December 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
keyword
keyword
74265
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"