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Prenatal diagnosis

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https://www.readbyqxmd.com/read/29336637/post-mortem-diagnosis-of-blake-s-pouch-cyst-a-presentation-of-distended-cyst-at-necropsy
#1
Srividya Sreenivasan, Vishnu Sawant, Joy Ghoshal
BACKGROUND: Blake's pouch cyst forms from non-permeabilization of Blake's pouch. It is difficult to visualize at necropsy as the cyst ruptures easily into the 4th ventricle during dissection. CASE REPORT: Based upon prenatal imaging, delicate dissection allowed post-mortem confirmation of the Blake's pouch cyst. CONCLUSIONS: This highlights the importance of utilizing premortem imaging to help guide the postmortem dissection and documentation of a posterior fossa cyst...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29335234/a-patient-held-smartcard-with-a-unique-identifier-and-an-mhealth-platform-to-improve-the-availability-of-prenatal-test-results-in-rural-nigeria-demonstration-study
#2
Semiu Olatunde Gbadamosi, Chuka Eze, John Olajide Olawepo, Juliet Iwelunmor, Daniel F Sarpong, Amaka Grace Ogidi, Dina Patel, John Okpanachi Oko, Chima Onoka, Echezona Edozie Ezeanolue
BACKGROUND: Community-based strategies to test for HIV, hepatitis B virus (HBV), and sickle cell disease (SCD) have expanded opportunities to increase the proportion of pregnant women who are aware of their diagnosis. In order to use this information to implement evidence-based interventions, these results have to be available to skilled health providers at the point of delivery. Most electronic health platforms are dependent on the availability of reliable Internet connectivity and, thus, have limited use in many rural and resource-limited settings...
January 15, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29331079/lmod3-associated-nemaline-myopathy-prenatal-ultrasonographic-pathologic-and-molecular-findings
#3
Michal Berkenstadt, Ben Pode-Shakked, Ortal Barel, Hila Barash, Reuven Achiron, Yinon Gilboa, Dvora Kidron, Annick Raas-Rothschild
To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3-related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy. To establish a molecular diagnosis, whole-exome sequencing was pursued for the affected fetuses. Nemaline myopathy is a common form of congenital myopathy manifesting with nonprogressive generalized muscle weakness, hypotonia, and electron-dense protein inclusions in skeletal myofibers...
January 13, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29330546/older-mothers-and-increased-impact-of-prenatal-screening-stable-livebirth-prevalence-of-trisomy-21-in-the-netherlands-for-the-period-2000-2013
#4
Maurike D de Groot-van der Mooren, Saskia Tamminga, Dick Oepkes, Michel E Weijerman, Martina C Cornel
In the Netherlands, there is no registry system regarding the livebirth prevalence of trisomy 21 (T21). In 2007, a national screening programme was introduced for all pregnant women, which may have changed the livebirth prevalence of T21. The aim of this study is to analyse trends in factors that influence livebirth prevalence of T21 and to estimate the livebirth prevalence of T21 for the period of 2000-2013. National data sets were used on the following: (1) livebirths according to maternal age and (2) prenatal testing and termination of pregnancy (ToP) following diagnosis of T21...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29329527/emotional-and-cognitive-experiences-during-the-time-of-diagnosis-and-decision-making-following-a-prenatal-diagnosis-a-qualitative-study-of-males-presented-with-congenital-heart-defect-in-the-fetus-carried-by-their-pregnant-partner
#5
Tommy Carlsson, Elisabet Mattsson
BACKGROUND: Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29327596/fertility-preservation-in-brca-mutated-women-when-and-how
#6
Michaël Grynberg, Jade Raad, Marjorie Comtet, Claire Vinolas, Isabelle Cédrin-Durnerin, Charlotte Sonigo
BRCA 1 and 2 genes play a critical role in the safeguarding of DNA integrity. It is now well established that BRCA1 and BRCA2-mutated women are at increased risk of breast and ovarian cancers. However, several lines of evidence indicate that this genetic status may also be associated with ovarian dysfunction, in particular a reduced ovarian reserve. Considering the gonadal toxicity of cancer treatments and the recommendation of prophylactic bilateral salpingo-oophorectomy around 40 years, young BRCA mutation carriers are confronted with difficult family planning decisions...
January 12, 2018: Future Oncology
https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#7
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29326774/the-burden-of-truncus-arteriosus-in-an-urban-city-in-africa-how-are-we-fairing
#8
Barakat Adeola Animasahun, Aminat Titilayo Ogunlana, Henry Olusegun Gbelee
Background: The true incidence of truncus arteriosus in underdeveloped countries is difficult to determine. This is due largely to underreporting as a result of nonavailability of technologically advanced facilities to make definitive diagnosis prenatally. There is a lack of data on the profile and outcome of patients with persistent truncus arteriosus (PTA) in Nigeria. This study aims to document the demographic characteristics, mode of presentation, indications for echocardiography, associated anomalies, average age at diagnosis, and outcome of patients with truncus arteriosus in our center...
October 2017: Heart Views: the Official Journal of the Gulf Heart Association
https://www.readbyqxmd.com/read/29325614/ethical-issues-in-neurogenetics
#9
Wendy R Uhlmann, J Scott Roberts
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324912/diuresis-renography-and-ultrasonography-in-children-with-antenatally-detected-hydronephrosis-can-support-diagnoses-and-suggest-related-surgery-treatment
#10
M Radulović, S Beatović, M Janković, Dragana Šobić-Šaranović, Vera Artiko, Boris Ajdinović
OBJECTIVE: Prenatal ultrasound (US) screening detects the hydronephrosis (HN)-dilatation of fetal renal collecting system in 1%-5% of all pregnancies. In most children, HN is detected by prenatal US screening between 18-20 gestational week. Pelvi- ureteric junction (PUJ) stenosis is the most common etiological factor of prenatal HN and requires postnatal follow-up. Diuresis renography plays important role in the follow-up by complementing morphological information obtained by US with the data about differential renal function (DRF) and drainage...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29322541/in-case-you-missed-it-the-prenatal-diagnosis-editors-bring-you-the-most-significant-advances-of-2017
#11
Brynn Levy, Diana W Bianchi, Tim Van Mieghem, Jan Deprest, Alessandro Ghidini, Lyn S Chitty
No abstract text is available yet for this article.
January 10, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29322534/current-controversies-in-prenatal-diagnosis-1-all-prenatally-detected-lower-urinary-tract-obstructions-should-be-shunted
#12
Roland Devlieger, R Douglas Wilson, Rodrigo Ruano
No abstract text is available yet for this article.
January 10, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29321361/a-novel-contiguous-deletion-involving-ndp-maob-and-efhc2-gene-in-a-patient-with-familial-norrie-disease-bilateral-blindness-and-leucocoria-without-other-deficits
#13
Bei Jia, Liping Huang, Yaoyu Chen, Siping Liu, Cuihua Chen, Ke Xiong, Lanlin Song, Yulai Zhou, Xinping Yang, Mei Zhong
Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29319590/ultrasound-findings-associated-with-antepartum-viral-infection
#14
Jude P Crino, Rita W Driggers
This article reviews the sonographic manifestations of fetal infection and the role of ultrasound in the evaluation of the fetus at risk for congenital infection. Several ultrasound findings have been associated with in utero fetal infections. For the patient with a known or suspected fetal infection, sonographic identification of characteristic abnormalities can provide useful information for counseling and perinatal management. Demonstration of such findings in the low-risk patient may serve to identify the fetus with a previously unsuspected infection...
January 9, 2018: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29318963/nanodiagnostics-and-nanodelivery-applications-in-genetic-alterations
#15
Maria Sofia Falzarano, Cristina Flesia, Roberta Cavalli, Caterina Guiot, Alessandra Ferlini
Background Genetic alterations cause hereditary diseases (HDs) with a wide range of incidences. Some, like cystic fibrosi, occur frequently (1/1,000 newborns), whilst others, such as Pompe disease and other metabolic disorders are very rare (1/100,000 newborns). They are well under the threshold of 1/3,000, denoted by the European Community as rare diseases (RDs). Genetic alterations are also associated with multifactorial disorders like diabetes, and underline both somatic and germline mutations in cancer...
January 10, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29318630/conflict-of-interest-related-to-clinical-practice-is-under-reported-the-case-of-non-invasive-prenatal-testing
#16
Adam J Wolfberg
Authors of policy statements from the American College of Obstetrics and Gynecology and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in Obstetrics and Gynecology and the American Journal of Obstetrics and Gynecology, again, without acknowledgement of the potential for conflict of interest. The case of non-invasive prenatal testing, which has threatened the role of maternal-fetal medicine in the practice of prenatal screening and diagnosis, and has significantly reduced the demand for invasive prenatal diagnosis, illustrates the importance of identifying this potential conflict...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29318419/prolapsed-bladder-following-rupture-of-patent-urachal-cyst-mimicking-bladder-exstrophy-a-case-report-and-literature-review
#17
Kasemsri Srisupundit, Phitsanu Mahawong, Cholaros Charoenratana, Theera Tongsong
A 26-year-old pregnant woman was diagnosed with fetal bladder prolapse following rupture of a patent urachus/urachal cyst, based on the finding of cyst disappearance with replacement with an infra-umbilical, extra-abdominal solid soft-tissue mass, mimicking bladder exstrophy. The neonatal findings confirmed the prenatal diagnosis. The baby was healthy and had a successful surgical correction. This report provides clues to differentiating ruptured bladder prolapse from bladder exstrophy as follows: (1) well-documented urachal cyst with urine-filled mass in the early gestation, (2) development of solid soft-tissue mass shortly after disappearance of the urachal cyst, and (3) no other structural abnormalities (bladder exstrophy is usually associated with abnormal genitalia, epispadias, or pubic diastasis)...
January 9, 2018: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/29317692/haplotype-based-noninvasive-prenatal-diagnosis-of-hyperphenylalaninemia-through-targeted-sequencing-of-maternal-plasma
#18
Jun Ye, Chao Chen, Yuan Yuan, Lianshu Han, Yaoshen Wang, Wenjuan Qiu, Huiwen Zhang, Asan, Xuefan Gu
Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy and feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents and probands using customized hybridization probes targeting highly heterozygous single-nucleotide polymorphisms located within the 1 M region flanking phenylalanine hydroxylase (PAH) and 6-pyruvoyltetrahydropterin (PTS) and its coding region to determine the parental haplotypes and linkage to pathogenic mutations...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#19
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
January 6, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29316477/challenges-of-diagnosing-fetal-alcohol-spectrum-disorders-in-foster-and-adopted-children
#20
Ludmila N Bakhireva, Laura Garrison, Shikhar Shrestha, Janet Sharkis, Rajesh Miranda, Karen Rogers
Fetal Alcohol Spectrum Disorders (FASD) might be 10-15 times more prevalent among foster/adopted children compared to the general population; however, many of these children remain undiagnosed or misdiagnosed. The lack of confirmed prenatal alcohol exposure (PAE) may be a key barrier to diagnosis. Our sample included 681 patients evaluated for FASD, according to the University of Washington 4-Digit Diagnostic Code, at a pediatric specialty clinic. Guardianship status and other patient characteristics were evaluated by multinomial logistic regression as potential predictors of being classified into one of the following FASD groups: 1) full or partial Fetal Alcohol Syndrome (FAS/pFAS; n = 97); 2) Static Encephalopathy/Alcohol-Exposed (SE/AE) or Neurobehavioral Disorder/Alcohol-Exposed (ND/AE) (n = 135); and 3) some features of FASD (equivalent to pFAS, SE/AE or ND/AE phenotypes) but unknown PAE (n = 449)...
August 24, 2017: Alcohol
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