keyword
MENU ▼
Read by QxMD icon Read
search

"Trisomy 18"

keyword
https://www.readbyqxmd.com/read/28930371/polyhydramnios-frequency-of-congenital-anomalies-in-relation-to-the-value-of-the-amniotic-fluid-index
#1
Jakub Kornacki, Magdalena Adamczyk, Przemysław Wirstlein, Maciej Osiński, Ewa Wender-Ożegowska
OBJECTIVES: The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. MATERIAL AND METHODS: The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28913147/summary-of-2185-prenatal-invasive-procedures-in-a-single-center-a-retrospective-analysis
#2
Hüseyin Çağlayan Özcan, Mete Gürol Uğur, Seyhun Sucu, Aynur Mustafa, Neslihan Bayramoğlu Tepe, Özcan Balat
OBJECTIVE: To determine the frequency, indications, and outcomes of diagnostic invasive prenatal procedures (DIPP) performed in a university hospital. MATERIALS AND METHODS: This retrospective, observational study included 2185 cases of DIPP (chorionic villus sampling, amniocentesis, and cordocentesis) performed at the department of obstetrics and gynecology of a university hospital between 2010 and 2016. We included all DIPP cases performed between 11 and 24 weeks of gestation...
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28895703/-double-aneuploidy-klinefelter-and-edwards-syndromes-48-xxy-18-case-report
#3
Mailén Costa, Silvia Ávila
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28890277/-prenatal-diagnosis-of-abdominal-wall-defects
#4
H El Mhabrech, H Ben Hmida, H Charfi, A Zrig, C Hafsa
Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects...
September 7, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28887622/non-invasive-prenatal-testing-nipt-europe-s-first-multicenter-post-market-clinical-follow-up-study-validating-the-quality-in-clinical-routine
#5
Anne Flöck, Ngoc-Chi Tu, Anna Rüland, Wolfgang Holzgreve, Ulrich Gembruch, Annegret Geipel
PURPOSE: Non-invasive prenatal tests (NIPT) for the determination of fetal aneuploidies from maternal blood are firmly established in clinical routine. For the first time, the accuracy of an NIPT for the determination of trisomies 21, 18 and 13 in singleton pregnancies was assessed by means of a prospective German-wide multicenter post-market clinical follow-up study, to reliably evaluate the quality in clinical routine. METHODS: The study covered the indications for testing, the test results, the rate of invasive diagnostics and the pregnancy outcome...
September 8, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28879597/prenatal-congenital-vertical-talus-rocker-bottom-foot-a-marker-for-multisystem-anomalies
#6
Eva I Rubio, Nimisha Mehta, Anna R Blask, Dorothy I Bulas
BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding...
September 6, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28869935/fetal-aneuploidy-a-comparison-of-dichorionic-twins-and-monochorionic-twins
#7
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/28859781/no-261-prenatal-screening-for-fetal-aneuploidy-in-singleton-pregnancies
#8
David Chitayat, Sylvie Langlois, R Douglas Wilson
OBJECTIVE: To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859779/no-262-prenatal-screening-for-and-diagnosis-of-aneuploidy-in-twin-pregnancies
#9
François Audibert, Alain Gagnon
OBJECTIVE: To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS: The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. OUTCOMES: Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28833712/cell-free-fetal-dna-analysis-in-maternal-plasma-as-a-screening-test-for-trisomy-21-18-and-13-in-twin-pregnancies
#10
Grégoire Le Conte, Alexandra Letourneau, Jacques Jani, Pascale Kleinfinger, Laurence Lohmann, Jean-Marc Costa, Alexandra Benachi
OBJECTIVES: To evaluate the utility of noninvasive prenatal testing using cell-free circulating fetal DNA (cfDNA) in screening for the three main autosomal fetal trisomies in twin pregnancies. METHODS: CfDNA testing was offered to 492 patients with twin pregnancies without ultrasound anomalies as a first-line screening test or after serum screening in clinical practice. Data were collected prospectively and a retrospective analysis was performed. CfDNA analysis was performed by massively parallel sequencing...
August 18, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28817202/perinatal-mortality-in-japanese-women-diagnosed-with-gestational-diabetes-mellitus-and-diabetes-mellitus
#11
Mamoru Morikawa, Takashi Sugiyama, Norimasa Sagawa, Yuji Hiramatsu, Hiroshi Ishikawa, Hiromi Hamada, Takashi Kameda, Emiko Hara, Shigeru Toda, Hisanori Minakami
AIMS: The objective of this study was to determine how many pregnant Japanese women with diabetes mellitus (DM)/gestational diabetes mellitus (GDM) experience perinatal mortality in the presence of fetal anomalies. METHODS: Our investigation included data from 205 secondary/tertiary obstetric facilities located widely in Japan. The Japan Ministry of Health, Labour and Welfare Vital Statistics of Japan was used for comparison. RESULTS: Of 237 941 women giving birth at 205 hospitals, 1796 (0...
August 17, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28804563/count-based-size-correction-analysis-of-maternal-plasma-dna-for-improved-noninvasive-prenatal-detection-of-fetal-trisomies-13-18-and-21
#12
Li Zhang, Qian Zhu, He Wang, Shanling Liu
PURPOSE: Our goal was to derive more sensitive and accurate Z-scores based on combined DNA count- and size-based algorithms to advance molecular diagnostics for noninvasive prenatal testing of fetal trisomies. METHODS: We included 180 cases at high risk for fetal aneuploidy who underwent amniotic fluid cytogenetic analysis. We calculated their traditional count-based Z-scores, as well as their 100-, 130- and 150-, and 166-bp size-corrected Z-scores, and determined each Z-score's reliability based on its comparison to the cases' cytogenetic results...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28777855/-application-of-bacs-on-beads-and-karyotyping-for-the-prenatal-diagnosis-of-1371-pregnant-women-with-a-high-risk
#13
Penglong Chen, Chunlei Jin, Qunda Shan, Bixia Qian, Xiaohong Zheng, Xiaohong Wang, Yi Wang
OBJECTIVE: To assess the value of combined BACs-on-Beads(TM) (BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy. METHODS: For 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples. RESULTS: In total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#14
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#15
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28728213/performance-of-non-invasive-prenatal-screening-for-fetal-aneuploidy-in-twin-pregnancies-a-meta-analysis
#16
Hong Liao, Shanling Liu, He Wang
OBJECTIVE: The objectives of this study were to review the published studies of non-invasive prenatal screening (NIPS) in twin pregnancies and to evaluate the performance for screening fetal trisomies 21, 18, and 13 in twin pregnancies. METHOD: Ten eligible studies were included in this meta-analysis. Data analysis, heterogeneity exploring, meta-regression, and subgroup analysis were all conducted with Meta-DiSc 1.4. Quality assessments were carried out with the Quality Assessment Tool for Diagnostic Accuracy Studies...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28723764/increased-nuchal-translucency-in-fetuses-with-a-normal-karyotype-diagnosis-and-management-an-observational-study
#17
Demetra Socolov, Razvan Socolov, Vlad Eusebiu Gorduza, Tudor Butureanu, Ruxandra Stanculescu, Alexandru Carauleanu, Ioana Pavaleanu
The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal aneuploidies are also associated with increased NT, which can also be detected in normal fetuses. This study sought to evaluate the causes of this ultrasound sign in a group of patients from Iasi, Romania.During the decade-long study period, there were 71 certified cases involving increased NT; the patients in these cases underwent diagnostic amniocentesis and karyotyping...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28717645/whole-genome-amplification-of-day-3-or-day-5-human-embryos-biopsies-provides-a-suitable-dna-template-for-pcr-based-techniques-for-genotyping-a-complement-of-preimplantation-genetic-testing
#18
Elizabeth Schaeffer, Bruno López-Bayghen, Adina Neumann, Leonardo M Porchia, Rafael Camacho, Efraín Garrido, Rocío Gómez, Felipe Camargo, Esther López-Bayghen
Our objective was to determine if whole genome amplification (WGA) provides suitable DNA for qPCR-based genotyping for human embryos. Single blastomeres (Day 3) or trophoblastic cells (Day 5) were isolated from 342 embryos for WGA. Comparative Genomic Hybridization determined embryo sex as well as Trisomy 18 or Trisomy 21. To determine the embryo's sex, qPCR melting curve analysis for SRY and DYS14 was used. Logistic regression indicated a 4.4%, 57.1%, or 98.8% probability of a male embryo when neither gene, SRY only, or both genes were detected, respectively (accuracy = 94...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28682865/overall-evaluation-of-the-clinical-value-of-prenatal-screening-for-fetal-free-dna-in-maternal-blood
#19
Bin Yu, Bei-Yi Lu, Bin Zhang, Xiao-Qing Zhang, Ying-Ping Chen, Qin Zhou, Jian Jiang, Hui-Yan Wang
OBJECTIVE: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times. The rate of NIPT failure was 0...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28641631/-characteristics-and-prognostic-significance-of-cytogenetic-abnormalities-in-diffuse-large-b-cell-lymphoma-patients-with-bone-marrow-involvement
#20
Wei Liu, Rui Lyu, Wen-Yang Huang, Cheng-Wen Li, Hong Liu, Jian Li, De-Hui Zou, Lu-Gui Qiu, Shu-Hua Yi
OBJECTIVE: To investigate the cytogenetic abnormalitis in patients with diffuse large B-cell lymphoma(DLBCL) patients with bone marrow involvement and their influence on prognosis. METHODS: Conventional karyotyping was performed on bone marrow specimens in 47 DLBCL patients with histologically confirmed bone marrow involvement(BMI). The karyotyping results of bone marrow, the characteristics and clinical effect of chromosomal abnormalities were analysed. RESULTS: In 47 DLBCL cases with BMI, the chromosomal abnormalities were detected in 25(53%) cases...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
keyword
keyword
75053
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"