keyword
MENU ▼
Read by QxMD icon Read
search

Prenatal diagnosis

keyword
https://www.readbyqxmd.com/read/29149251/parental-age-and-risk-of-lymphoid-neoplasms
#1
Gunnar Larfors, Ingrid Glimelius, Sandra Eloranta, Karin E Smedby
High parental age at childbirth has repeatedly been linked to childhood malignancies, while few studies have focused on the offspring's risk of adult cancer. In this population-based case-control study, we identified 32,000 patients with lymphoid neoplasms, diagnosed at ages 0-79 years during the period 1987-2011, and 160,000 matched controls in Sweden. Using prospectively registered data on their first-degree relatives, we evaluated the impact of parental age on the risk of lymphoid neoplasms by subtype. Overall, each 5-year increment in maternal age was associated with a 3% increase in incidence of offspring lymphoid neoplasms (hazard ratio = 1...
November 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29146711/ethics-health-policy-and-zika-from-emergency-to-global-epidemic
#2
Euzebiusz Jamrozik, Michael J Selgelid
Zika virus was recognised in 2016 as an important vector-borne cause of congenital malformations and Guillain-Barré syndrome, during a major epidemic in Latin America, centred in Northeastern Brazil. The WHO and Pan American Health Organisation (PAHO), with partner agencies, initiated a coordinated global response including public health intervention and urgent scientific research, as well as ethical analysis as a vital element of policy design. In this paper, we summarise the major ethical issues raised during the Zika epidemic, highlighting the PAHO ethics guidance and the role of ethics in emergency responses, before turning to ethical issues that are yet to be resolved...
November 16, 2017: Journal of Medical Ethics
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/29145274/diagnosis-of-fetal-megacystis-with-chromosomal-abnormality-by-2d-prenatal-ultrasound-a-case-report
#4
Fuman She, Shengwen Dong, Bibo Yuan, Xiaoli Gao
RATIONALE: The pathogenesis of fetal megacystis is divided into obstructive and nonobstructive. Megacystis combined with chromosomal abnormalities is rare and most of the cases are nonobstructive. PATIENT CONCERNS: The fetus showed posterior urethral obstructive megacystis with features of bladder enlargement, "keyhole" feature, and thick bladder wall. DIAGNOSES: Here, we present a case of fetal megacystis diagnosed by ultrasound at pregnancy week 15+2 and with multisystem abnormalities...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29143321/interobserver-agreement-on-standardized-ultrasound-and-histopathologic-signs-for-the-prenatal-diagnosis-of-placenta-accreta-spectrum-disorder
#5
Nurit Zosmer, Eric Jauniaux, Catey Bunce, Jenie Panaiotova, Hizbullah Shaikh, Kypros H Nicholaides
OBJECTIVE: To evaluate interobserver agreement in assessment of ultrasound signs and histopathologic findings associated with placenta accreta spectrum (PAS) disorders. METHODS: A retrospective study was conducted using data for patients prenatally diagnosed with PAS disorders at a UK hospital between January 31, 2012, and March 30, 2017. Ultrasound images (including gray-scale and color Doppler imaging [CDI] parameters) and histopathologic slides were reviewed by two observers; the level of agreement was calculated...
November 16, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29143169/predictors-and-patterns-of-psychiatric-treatment-dropout-during-pregnancy-among-low-income-women
#6
Sara L Kornfield, Christina D Kang-Yi, David S Mandell, C Neill Epperson
Objective This study compared psychiatric treatment discontinuation rates among pregnant women using psychotropic medications, outpatient psychotherapy, or both before conception. Methods Using data from Pennsylvania Medicaid Fee-For-Service and Managed Care Organization claims and Medicaid enrollment, 3030 women were identified who gave birth between 2007 and 2009, had ≥ 1 claim for psychiatric treatment during the 120 days prior to pregnancy, and were enrolled in Medicaid until they delivered. Kaplan-Meier and Cox regression analyses were used to estimate psychiatric treatment dropout rate during pregnancy and examine relationships between treatment dropout and age, race/ethnicity, and pre-pregnancy psychiatric diagnosis and treatment pattern...
November 15, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#7
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#8
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29137553/relationship-between-pregnancy-complications-and-psychiatric-disorders-a-population-based-study-with-a-matched-control-group
#9
Christina D Kang-Yi, Sara L Kornfield, C Neill Epperson, David S Mandell
OBJECTIVES: This study sought to identify whether pregnancy complications differ between women with and without a psychiatric disorder diagnosis prior to pregnancy. METHODS: Women who gave birth between 2007 and 2009 in Pennsylvania and were enrolled in Medicaid from one year prior to their pregnancy until their delivery were included (N=9,930); those with psychiatric disorders were compared with a matched control group (N=4,965 for each). Logistic regression analysis estimated the odds of having a pregnancy complication among those with a psychiatric diagnosis prior to pregnancy, adjusting for demographic characteristics and chronic general medical conditions...
November 15, 2017: Psychiatric Services: a Journal of the American Psychiatric Association
https://www.readbyqxmd.com/read/29136274/diagnostic-accuracy-of-magnetic-resonance-imaging-in-detecting-the-severity-of-abnormal-invasive-placenta-a-systematic-review-and-meta-analysis
#10
Alessandra Familiari, Marco Liberati, Philip Lim, Giorgio Pagani, Giuseppe Cali, Danilo Buca, Lamberto Manzoli, Maria Elena Flacco, Giovanni Scambia, Francesco D'Antonio
Accurate prenatal diagnosis of abnormally invasive placenta (AIP) is fundamental because it significantly reduces maternal morbidities MATERIAL AND METHODS: Medline, Embase, CINAHL and The Cochrane databases were searched. The primary aim of the present review was to elucidate the diagnostic accuracy of prenatal magnetic resonance imaging (MRI) in recognizing the severity of AIP, defined as the depth and topography of invasion. The secondary aim was to ascertain the strength of association between each MRI sign and the depth of placental invasion and to test their individual predictive accuracy in detecting such invasion...
November 14, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29135270/-effectiveness-of-prenatal-ultrasound-in-fetal-and-neonatal-malformations-and-examination-of-difficulty-and-uncertainty-factors
#11
Fanni Rebeka Erős, Artúr Beke
INTRODUCTION AND AIM: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. METHOD: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. RESULTS: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29133586/prenatal-diagnosis-of-left-isomerism-with-normal-heart
#12
Sara Costa, Ana Carriço, Francisco Valente
No abstract text is available yet for this article.
November 12, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29132462/-familial-male-limited-precocious-puberty-due-to-asp578his-mutations-in-the-lhcgr-gene-clinical-characteristics-and-gene-analysis-in-an-infant
#13
Min Wang, Min Li, Yue-Sheng Liu, Si-Min Lei, Yan-Feng Xiao
The aim of the study was to provide a descriptive analysis of familial male-limited precocious puberty (FMPP), which is a rare inherited disease caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR). The patient was a ten-month-old boy, presenting with penile enlargement, pubic hair formation, and spontaneous erections. Based on the clinical manifestations and laboratory data, including sexual characteristics, serum testosterone levels, GnRH stimulation test, and bone age, this boy was diagnosed with peripheral precocious puberty...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29132460/-genetic-diagnosis-of-10-neonates-with-primary-carnitine-deficiency
#14
Jian-Qiang Tan, Da-Yu Chen, Zhe-Tao Li, Ti-Zhen Yan, Ji-Wei Huang, Ren Cai
OBJECTIVE: To study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD. METHODS: Acylcarnitine profile analysis was performed by tandem mass spectrometry using 34 167 dry blood spots on filter paper. The SLC22A5 gene was sequenced and analyzed in neonates with free carnitine (C0) levels lower than 10 μmol/L as well as their parents...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29130947/application-of-digital-pcr-in-detecting-human-diseases-associated-gene-mutation
#15
Yu Tong, Shizhen Shen, Hui Jiang, Zhi Chen
Gene mutation has been considered a research hotspot, and the rapid development of biomedicine has enabled significant advances in the evaluation of gene mutations. The advent of digital polymerase chain reaction (dPCR) elevates the detection of gene mutations to unprecedented levels of precision, especially in cancer-associated genes. dPCR has been utilized in the detection of tumor markers in cell-free DNA (cfDNA) samples from patients with different types of cancer in samples such as plasma, cerebrospinal fluid, urine and sputum, which confers significant value for dPCR in both clinical applications and basic research...
October 18, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29128521/prenatal-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-disease-a-prospective-cohort-study
#16
Yan Wang, Li Cao, Dong Liang, Lulu Meng, Yun Wu, Fengchang Qiao, Xiuqing Ji, Chunyu Luo, Jingjing Zhang, Tianhui Xu, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Ping Hu, Zhengfeng Xu
BACKGROUD: Currently, chromosomal microarray analysis is considered as the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of CMA for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. OBJECTIVE: Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. STUDY DESIGN: In this prospective study, 602 prenatal cases of congenital heart disease were investigated using SNP array over a 5-year period...
November 8, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29125932/pathogenesis-of-cleft-palate-in-robin-sequence-observations-from-prenatal-magnetic-resonance-imaging
#17
Cory M Resnick, Judy A Estroff, Tessa D Kooiman, Carly E Calabrese, Maarten J Koudstaal, Bonnie L Padwa
PURPOSE: The etiology of the palatal cleft in Robin sequence (RS) is unknown. The purpose of this study was to assess the position of the fetal tongue at prenatal magnetic resonance imaging (MRI) and to suggest a potential relation between tongue position and development of the cleft palate seen in most patients with RS. MATERIALS AND METHODS: This is a retrospective case-and-control study including fetuses with prenatal MRIs performed in the authors' center from 2002 to 2017...
October 16, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#18
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29124982/pre-gestational-thalassemia-screening-in-mainland-china-the-first-two-years-of-a-preventive-program
#19
Fan Jiang, Gui-Lan Chen, Jian Li, Xing-Mei Xie, Jian-Ying Zhou, Can Liao, Dong-Zhi Li
In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), - -(SEA) and - -(THAI) deletions were 3.79, 5.75 and 0.028%, respectively. Out of the 41,531 couples, 11,039 couples had at least one partner who had a positive screening test; of these, 455 at-risk couples (1...
November 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29124980/prenatal-diagnosis-and-molecular-analysis-of-a-large-novel-deletion-js-causing-%C3%AE-0-thalassemia
#20
Jinru Cao, Shuzhen He, Yudong Pu, Jingjing Liu, Fuping Liu, Jun Feng
α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republic of China (PRC), which removes almost the entire α2 and α1 genes from the α-globin gene cluster. Thus, it was named the Jiangsu deletion (- -(JS)) on the α-globin gene cluster causing α(0)-thal...
November 10, 2017: Hemoglobin
keyword
keyword
1413
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"