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https://www.readbyqxmd.com/read/29456577/is-ultrasound-screening-for-vasa-praevia-clinically-justified-and-a-financially-viable-screening-test-a-literature-review
#1
REVIEW
Gillian Coleman, Heather Venables
Vasa praevia is an obstetric complication currently not screened for within the United Kingdom, which if undetected prenatally can lead to fetal death when the membranes rupture. Internationally, guidelines are available providing guidance on the best screening policy and management pathways. However, the UK National Screening Committee and Royal College of Obstetricians and Gynaecologists do not support screening due to a lack of evidence. Recent studies explore the ability of ultrasound to detect vasa praevia prenatally in both the general and high-risk populations...
February 2018: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/29456484/7q-deletion-12q-duplication-is-the-possible-cause-of-an-alobar-holoprosencephaly-case
#2
Vassilis Paspaliaris, Nikolaos Vrachnis, Zoe Iliodromiti, Nikolaos Antonakopoulos, Giorgos Papaioannou, Nikolaos Vlachadis, Foteini Anastasiadou, Sotirios Sotiriou, Antonios Garas, Lorreta Thomaidis, Emmanouil Manolakos
Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In this case report, a pregnancy affected by alobar HPE is described. Using aCGH, an 8.9-Mb deletion at 7q36.1q36.3 together with a 4.9-Mb duplication at 12q24.32q24.33 is assumed to be the possible reason for this alobar HPE case. It is discussed that disruption of key elements of the developing brain, taking environmental factors into account, contributes to the HPE spectrum...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29455611/evaluation-of-foetal-neurological-behaviour-in-hypothyroid-pregnant-females-a-pilot-study
#3
Amira Dieb, Randa Salam, Dina Shaheen, Eman Shaeer
OBJECTIVES: Maternal hypothyroidism is known for its possible deleterious effect on the neurocognitive function of the offspring. The aim of the current study is to investigate if maternal hypothyroidism also affects foetal neurological behaviour. METHODS: Fifty foetuses were examined for abnormal neurological behaviour from 25 euthyroid and 25 hypothyroid age matched pregnant females, between 28 and 38 weeks gestation. The hypothyroid group was further subdivided into controlled (n = 5) and uncontrolled (n = 20) groups...
February 18, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29455170/comparison-and-validation-of-screening-tools-for-substance-use-in-pregnancy-a-cross-sectional-study-conducted-in-maryland-prenatal-clinics
#4
Victoria H Coleman-Cowger, Emmanuel A Oga, Erica N Peters, Kathleen Trocin, Bartosz Koszowski, Katrina Mark
INTRODUCTION: Prescription-drug use in the USA has increased by more than 60% in the last three decades. Prevalence of prescription-drug use among pregnant women is currently estimated around 50%. Prevalence of illicit drug use in the USA is 14.6% among pregnant adolescents, 8.6% among pregnant young adults and 3.2% among pregnant adults. The first step in identifying problematic drug use during pregnancy is screening; however, no specific substance-use screener has been universally recommended for use with pregnant women to identify illicit or prescription-drug use...
February 17, 2018: BMJ Open
https://www.readbyqxmd.com/read/29452340/congenital-abnormalities-of-the-male-reproductive-system-and-risk-of-autism-spectrum-disorders
#5
Ran S Rotem, Gabriel Chodick, Michael Davidovitch, Russ Hauser, Brent A Coull, Marc G Weisskopf
Androgens have an extensive influence on brain development in regions of the brain that are relevant for autism spectrum disorder (ASD), yet their etiological involvement remains unclear. Hypospadias (abnormal positioning of the urethral opening) and cryptorchidism (undescended testes) are 2 relatively common male birth defects that are strongly associated with prenatal androgen deficiencies. Having either disorder is a proxy indicator of atypical gestational androgen exposure, yet the association between these disorders and autism has not been extensively studied...
February 14, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29450226/alcohol-reduction-in-the-first-trimester-is-unrelated-to-smoking-patient-or-pregnancy-characteristics
#6
Kristen A Schmidt, Andrew J Lancia, Saad Alvi, Jean C Aldag
Introduction: Studies show alcohol-preferring mice reduce their alcohol intake during pregnancy; this study questions if the same is true for humans. The current investigation compares women's pre-pregnancy and first trimester alcohol consumption, examines if women with problem drinking diminish their alcohol intake during pregnancy, and determines if prenatal alcohol reduction is associated with characteristics of pregnancy, patients or smoking. Methods: 126 participants in weeks 1-12 of pregnancy, recruited from Obstetric and Family Practices, completed a survey during their initial prenatal visit including two gender-specific AUDITs (Alcohol Use Disorders Identification Tests) querying current and pre-pregnancy alcohol use...
June 2017: Addictive Behaviors Reports
https://www.readbyqxmd.com/read/29449634/self-perceptions-from-people-with-down-syndrome-in-japan
#7
Mio Wakai, Rina Takahashi, Satomi Higashigawa, Masami Ikeda, Junko Yotsumoto, Hironao Numabe
Self-perception of people with Down Syndrome (DS) was originally studied in the United States in 2011; this study indicated that 99% of people with DS are happy with their lives. In this study, we investigated self-perceptions of people with DS in Japan and compared the results to the previous study made in the United States. The participants (n = 300) were 12 years old or older and members of Japan Down Syndrome Society (JDS). The questionnaire was collected between 30 October 2015 and 26 November 2015. Of 96(32%) responses, 76 (97%) agreed they are happy with their lives...
February 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29448188/genotype-phenotype-and-in-silico-pathogenicity-analysis-of-hexb-mutations-panel-based-sequencing-for-differential-diagnosis-of-gangliosidosis
#8
Nejat Mahdieh, Sahar Mikaeeli, Ali Reza Tavasoli, Zahra Rezaei, Majid Maleki, Bahareh Rabbani
OBJECTIVES: Gangliosidosis is an inherited metabolic disorder causing neurodegeneration and motor regression. Preventive diagnosis is the first choice for the affected families due to lack of straightforward therapy. Genetic studies could confirm the diagnosis and help families for carrier screening and prenatal diagnosis. An update of HEXB gene variants concerning genotype, phenotype and in silico analysis are presented. PATIENTS AND METHODS: Panel based next generation sequencing and direct sequencing of four cases were performed to confirm the clinical diagnosis and for reproductive planning...
February 8, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#9
REVIEW
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29442476/analysis-of-the-correlation-of-gestational-diabetes-mellitus-and-peripheral-ferritin-with-iron-levels-in-early-pregnancy
#10
Wenchen Guo, Hongyan Wang, Qi Liu, Yuchao Yuan, Yanyan Jing, Xiaoju Yang
BACKGROUND: To investigate the relationship of serum iron and ferritin concentrations in early pregnancy with gestational diabetes mellitus (GDM) complicated in pregnant metaphase through detecting the serum iron and ferritin concentrations in early pregnancy of normal pregnant women, so as to provide new ideas for the early detection and prevention of GDM. METHODS: Spontaneously pregnant women with single fetus receiving prenatal routine examination in our hospital from December 2014 to October 2016 were selected...
February 13, 2018: Minerva Endocrinologica
https://www.readbyqxmd.com/read/29441593/comment-on-the-commentary-by-evans-et-al-entitled-the-price-of-abandoning-diagnostic-testing-for-cell-free-dna-screening
#11
Lisa Hui, Mary Norton
Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell-free DNA-based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities - in fact, we are now seeing historically high yields from prenatal screening...
February 14, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29440752/one-step-noninvasive-prenatal-testing-nipt-for-autosomal-recessive-homozygous-point-mutations-using-digital-pcr
#12
Mun Young Chang, Soyeon Ahn, Min Young Kim, Jin Hee Han, Hye-Rim Park, Han Kyu Seo, Jinsun Yoon, Seungmin Lee, Doo-Yi Oh, Changsoo Kang, Byung Yoon Choi
Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29439729/application-of-neural-networks-for-classification-of-patau-edwards-down-turner-and-klinefelter-syndrome-based-on-first-trimester-maternal-serum-screening-data-ultrasonographic-findings-and-patient-demographics
#13
Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic, Almir Badnjevic
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29438655/short-term-neurodevelopmental-outcome-in-children-born-with-high-risk-congenital-lung-lesions
#14
Enrico Danzer, Casey Hoffman, Jo Ann D'Agostino, Matthew M Boelig, Marsha Gerdes, Judy C Bernbaum, Hannah Rosenthal, Lindsay N Waqar, Natalie E Rintoul, Lisa M Herkert, Michael J Kallan, William H Peranteau, Alan W Flake, N Scott Adzick, Holly L Hedrick
BACKGROUND: To evaluate neurodevelopmental outcome in high-risk congenital lung lesions (CLLs) survivors who underwent prenatal intervention or postnatal surgery within the first month of life. METHODS: Forty-five high-risk CLLs survivors underwent assessment using the Bayley Scales of Infant Development, 3rd Edition between 07/2004 and 12/2016. Scores were grouped as average, at-risk, and delayed based on standard deviation intervals. Correlations between outcome and risk factors were analyzed by Fisher's exact test or two-sided t-test as appropriate, with significant p-values <0...
February 10, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29437173/human-brain-organoid-on-a-chip-to-model-prenatal-nicotine-exposure
#15
Yaqing Wang, Li Wang, Yujuan Zhu, Jianhua Qin
Nicotine has been recognized to trigger various neuronal disabilities in the fetal brain and long-lasting behavioral deficits in offspring. However, further understanding of fetal brain development under nicotine exposure is challenging due to the limitations of existing animal models. Here, we create a new brain organoid-on-a-chip system derived from human induced pluripotent stem cells (hiPSCs) that allows us to model neurodevelopmental disorders under prenatal nicotine exposure (PNE) at early stages. The brain organoid-on-a-chip system facilitates 3D culture, in situ neural differentiation, and self-organization of brain organoids under continuous perfused cultures in a controlled manner...
February 13, 2018: Lab on a Chip
https://www.readbyqxmd.com/read/29436723/variable-prenatal-presentation-of-pfeiffer-syndrome-suggested-aids-to-prenatal-sonographic-diagnosis
#16
Souha Saliba, Baptiste Morel, Marie Gonzales, Marie-Victoire Sénat, Lucie Guilbaud, Jean-Marie Jouannic, Marie Cassart, Catherine Garel, Eléonore Blondiaux
BACKGROUND: Our purpose was to describe and compare the cranial and extracranial abnormalities of Pfeiffer syndrome on prenatal imaging with postnatal or postmortem findings, which may help in prenatal diagnosis of Pfeiffer syndrome (PS). METHODS: Cases of fetuses with a confirmed diagnosis of PS over a 4-year period (2012-2016) were retrospectively reviewed. Prenatal imaging findings, postnatal or postmortem investigations and genetic test results were analyzed...
February 13, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29433355/what-would-be-missed-in-the-first-trimester-if-nuchal-translucency-measurement-is-replaced-by-cell-free-dna-foetal-aneuploidy-screening
#17
Lv-Yin Huang, Min Pan, Jin Han, Li Zhen, Xin Yang, Dong-Zhi Li
The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm). Chromosome aberrations were investigated using karyotyping or chromosomal microarray analysis (CMA). Karyotyping had been chosen for foetal cytogenetic testing by 446 patients, and CMA by 329 patients...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29432754/optimizing-research-in-symptomatic-uterine-fibroids-with-development-of-a-computable-phenotype-for-use-with-electronic-health-records
#18
Sarah R Hoffman, Anissa I Vines, Jacqueline R Halladay, Emily Pfaff, Lauren Schiff, Daniel Westreich, Aditi Sundaresan, La-Shell Johnson, Wanda K Nicholson
BACKGROUND: Symptomatic uterine fibroids, due to menorrhagia, pelvic pain, bulk symptoms or infertility, are a source of substantial morbidity for reproductive-age women. Comparing Treatment Options for Uterine Fibroids (COMPARE-UF) is a multi-site registry study to compare the effectiveness of hormonal or surgical fibroid treatments on women's perceptions of their quality of life. Electronic health record (EHR)-based algorithms are able to identify large numbers of women with fibroids, but additional work is needed to develop EHR algorithms that can identify women with symptomatic fibroids to optimize fibroid research...
February 9, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29430994/aortic-arch-anomalies-detected-in-foetal-life-by-echocardiography
#19
Funda Oztunc, Sezen Ugan Atik, Reyhan Dedeoglu, Mehmet Aytac Yuksel, Rıza Madazlı
Aortic arch anomalies refer to congenital malformations of position or branching pattern of the aortic arch. To-date, only a few small studies have documented prenatal detection of aortic arch anomalies. In this article, we share our experience in detecting aortic arch anomalies. Foetal echocardiograms, clinic and genetic histories of 33 patients who had been diagnosed with aortic arch anomaly from 2007 to 2015 were reviewed. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29430559/developmental-lead-and-or-prenatal-stress-exposures-followed-by-different-types-of-behavioral-experience-result-in-the-divergence-of-brain-epigenetic-profiles-in-a-sex-brain-region-and-time-dependent-manner-implications-for-neurotoxicology
#20
Deborah A Cory-Slechta, Marissa Sobolewski, G Varma, J S Schneider
Over a lifetime, early developmental exposures to neurocognitive risk factors, such as lead (Pb) exposures and prenatal stress (PS), will be followed by multiple varied behavioral experiences. Pb, PS and behavioral experience can each influence brain epigenetic profiles. Our recent studies show a greater level of complexity, however, as all three factors interact within each sex to generate differential adult variation in global post-translational histone modifications (PTHMs), which may result in fundamentally different consequences for life-long learning and behavioral function...
October 2017: Current Opinion in Toxicology
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