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https://www.readbyqxmd.com/read/28306738/comparative-evaluation-of-the-minimally-invasive-karyotyping-mink-algorithm-for-non-invasive-prenatal-testing
#1
Tianjiao Chu, Patricia A Shaw, Suveyda Yeniterzi, Mary Dunkel, Aleksander Rajkovic, W Allen Hogge, Kimberly D Bunce, David G Peters
Minimally Invasive Karyotyping (MINK) was communicated in 2009 as a novel method for the non-invasive detection of fetal copy number anomalies in maternal plasma DNA. The original manuscript illustrated the potential of MINK using a model system in which fragmented genomic DNA obtained from a trisomy 21 male individual was mixed with that of his karyotypically normal mother at dilutions representing fetal fractions found in maternal plasma. Although it has been previously shown that MINK is able to non-invasively detect fetal microdeletions, its utility for aneuploidy detection in maternal plasma has not previously been demonstrated...
2017: PloS One
https://www.readbyqxmd.com/read/28299578/future-science-prize-goes-to-non-invasive-prenatal-testing
#2
Kang Li, Yaou Duan, Magdalene Yin Lin Ting, Zhiying Ou, Li Liu, Kang Zhang, Xin Fu
No abstract text is available yet for this article.
March 13, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28295291/study-of-the-extent-of-information-desired-by-women-undergoing-non-invasive-prenatal-testing-following-positive-prenatal-down-syndrome-screening-test-results
#3
Tsz-Kin Lo, Kelvin Yuen-Kwong Chan, Anita Sik-Yau Kan, Po-Lam So, Choi-Wah Kong, Shui-Lam Mak, Chung-Nin Lee
In addition to common trisomies, the inclusion of sex chromosomes and atypical autosomal anomalies in non-invasive prenatal tests (NIPTs) is becoming increasingly common; this is the result of limited screening alternatives that can identify them [1]. It has been recommended that healthcare practitioners understand patient preferences thoroughly [1], and that, given the complexity of NIPTs, patients be given the option to accept or reject this additional information [2, 3]. However, how much information patients want from NIPTs in a real-life clinical setting remains unknown...
March 12, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28277805/intrauterine-transfusion-and-non-invasive-treatment-options-for-hemolytic-disease-of-the-fetus-and-newborn-review-on-current-management-and-outcome
#4
Carolien Zwiers, Inge van Kamp, Dick Oepkes, Enrico Lopriore
Hemolytic disease of the fetus and newborn (HDFN) remains a serious pregnancy complication which can lead to severe fetal anemia, hydrops and perinatal death. Areas covered: This review focusses on the current prenatal management, treatment with intrauterine transfusion (IUT) and promising non-invasive treatment options for HDFN. Expert commentary: IUTs are the cornerstone in prenatal management of HDFN and have significantly improved perinatal outcome in the past decades. IUT is now a relatively safe procedure, however the risk of complications is still high when performed early in the second trimester...
March 20, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28272531/non-invasive-prenatal-diagnosis-of-beta-thalassemia-by-semiconductor-sequencing-a-feasibility-study-in-the-sardinian-population
#5
Luisella Saba, Maddalena Masala, Valentina Capponi, Giuseppe Marceddu, Matteo Massidda, Maria Cristina Rosatelli
β-Thalassemia is the most common autosomal recessive single-gene disorder in Sardinia, where approximately 10.3% of the population is a carrier. Prenatal diagnosis is carried out at 12 weeks of gestation via villocentesis and is commonly aimed at ascertaining the presence or absence of the HBB variant c.118C>T, which is the most common in Sardinia. In this study, we describe for the first time the application of semiconductor sequencing to the non-invasive prenatal diagnosis of β-thalassemia in 37 couples at risk for this variant...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28268196/prenatal-ultrasound-diagnosis-and-outcome-of-placenta-previa-accreta-after-caesarean-delivery-a-systematic-review-and-meta-analysis
#6
REVIEW
Eric Jauniaux, Amar Bhide
BACKGROUND: Women with a history of previous caesarean delivery, presenting with a placenta previa have become the largest group with the highest risk for placenta previa accreta. OBJECTIVE: To evaluate the accuracy of ultrasound imaging in the prenatal diagnosis of placenta accreta and the impact of the depth of villous invasion on management in women presenting with placenta previa or low-lying placenta and with one or more prior caesarean deliveries. STUDY DESIGN: Data sources: We searched PubMed, Google Scholar, clinicalTrials...
March 4, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28261902/estimates-of-live-birth-prevalence-of-children-with-down-syndrome-in-the-period-1991-2015-in-the-netherlands
#7
G de Graaf, J J M Engelen, A C J Gijsbers, R Hochstenbach, M J V Hoffer, A J A Kooper, B Sikkema-Raddatz, M I Srebniak, A M F van der Kevie-Kersemaekers, L J C M van Zutven, E Voorhoeve
BACKGROUND: In Western countries, increasing maternal age has led to more pregnancies with a child with Down syndrome (DS). However, prenatal screening programs, diagnostic testing and termination of pregnancy influence the actual DS live birth (LB) prevalence as well. The aim of this study is to examine these factors in the Netherlands for the period 1991-2015. In our study, we establish a baseline for DS LB prevalence before non-invasive prenatal testing will be made available to all pregnant women in the Netherlands in 2017...
March 5, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28252309/-influence-of-hcg-glycosylation-on-its-functions-in-female-reproduction
#8
I Oborná, H Fingerová
OBJECTIVE: To review contemporary knowledge of the hCG molecule, its isoforms and the importance of glycosylation. Biologic variants and glycoforms of hCG have different biological activities and functions related to the control of menstrual cycle, conception, gestation as well as gynaecologic and non-gynaecologic malignancies. DESIGN: A review. SETTING: Department of Obstetrics and Gynaecology, University Hospital Olomouc. METHODS: To present own experience and an overview of recent literature in molecular biology, clinical biochemistry and clinical practice...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28249853/non-invasive-prenatal-screening-should-be-banned-for-sex-selection-says-ethics-report
#9
Anne Gulland
No abstract text is available yet for this article.
February 28, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28248967/improving-the-positive-predictive-value-of-non-invasive-prenatal-screening-nips
#10
Charles M Strom, Ben Anderson, David Tsao, Ke Zhang, Yan Liu, Kayla Livingston, Christopher Elzinga, Matthew Evans, Quoclinh Nguyen, David Wolfson, Charles Rowland, Paula Kolacki, Megan Maxwell, Jia-Chi Wang, Douglas Rabin, Joseph Catanese, Renius Owen, Corey Braastad, Weimin Sun
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation. GC sequencing bias correction and statistical smoothing were performed to enhance discrimination of affected and unaffected pregnancies. Maternal plasma samples from pregnancies with known aneuploidy status were used for assay development, verification, and validation. Assay verification studies using 2,085 known samples (1873 unaffected, 69 trisomy 21, 20 trisomy 18, 17 trisomy 13) demonstrated complete discrimination between autosomal trisomy (Z scores >8) and unaffected (Z scores <4) singleton pregnancies...
2017: PloS One
https://www.readbyqxmd.com/read/28238318/-answer-to-the-article-by-f-%C3%A2-vialrd-et-al-does-the-prevalence-of-recurrent-pathogenic-microdeletions-and-microdoublements-in-prenatal-diagnosis-lead-to-a-reassessment-of-the-evolution-of-non-invasive-screening-techniques-the-example-of-region-22q11-2
#11
https://www.readbyqxmd.com/read/28238316/-does-the-prevalence-of-recurrent-pathogenic-microdeletions-and-microdoublements-in-prenatal-diagnosis-lead-to-a-reassessment-of-the-evolution-of-non-invasive-screening-techniques-the-example-of-region-22q11-2
#12
F Vialard, C Rouillac-Le Sciellour, J Besseau-Ayasse, C Oheix, B Hervé, D Molina-Gomes
No abstract text is available yet for this article.
January 2017: Gynecol Obstet Fertil Senol
https://www.readbyqxmd.com/read/28214832/the-burden-of-respiratory-disease-in-very-low-birth-weight-infants-changes-in-perinatal-care-and-outcomes-in-a-decade-in-spain
#13
Fermín García-Muñoz Rodrigo, Antonio Losada Martínez, María Dolores Elorza Fernández, Julio Moreno Hernando, Josep Figueras Aloy, Máximo Vento Torres
BACKGROUND: Advances in perinatal care have led to a significant reduction in morbidity and mortality among very-low-birth-weight (VLBW) infants. Much of this progress is related to the prevention and management of respiratory disease. OBJECTIVES: To evaluate changes in perinatal care and its influence on respiratory morbidity and mortality among VLBW infants in Spain in 2 consecutive periods (2002-2006 and 2007-2011). METHODS: This is a retrospective analysis of data prospectively collected of all VLBW infants included in the Spanish SEN1500 network...
February 18, 2017: Neonatology
https://www.readbyqxmd.com/read/28213294/a-low-cost-simplified-and-scaleable-pneumotachograph-and-face-mask-for-neonatal-mouse-respiratory-measurements
#14
Jenny J Sun, Roshan Nanu, Russell S Ray
INTRODUCTION: Neonatal respiratory disorders are a leading cause of perinatal mortality due to complications resulting from premature births and prenatal exposure to drugs of abuse, but optimal treatments for these symptoms are still unclear due to a variety of confounds and risk factors. Mouse models present an opportunity to study the underlying mechanisms and efficacy of potential treatments of these conditions with controlled variables. However, measuring respiration in newborn mice is difficult and commercial components are expensive and often require modification, creating a barrier and limiting our understanding of the short and long-term effects of birth complications on respiratory function...
February 15, 2017: Journal of Pharmacological and Toxicological Methods
https://www.readbyqxmd.com/read/28209493/quantitative-analysis-of-fetal-facial-morphology-using-3d-ultrasound-and-statistical-shape-modelling-a-feasibility-study
#15
Andrea Dall'Asta, Silvia Schievano, Jan L Bruse, Gowrishankar Paramasivam, Christine Tita Kaihura, David Dunaway, Christoph C Lees
BACKGROUND: The antenatal detection of facial dysmorphism using three-dimensional ultrasound may raise the suspicion of an underlying genetic conditions but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and non invasive prenatal testing, not all genetic conditions can be ascertained from such testing. OBJECTIVES: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal three-dimensional ultrasound volumes and statistical shape modelling...
February 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28207161/prenatal-diagnosis-of-congenital-cytomegalovirus-infection-in-115-cases-a-5%C3%A2-years-single-centre-experience
#16
M Enders, A Daiminger, S Exler, K Ertan, G Enders, R Bald
OBJECTIVE: To investigate the diagnostic value of invasive prenatal diagnosis (PD) of congenital CMV infection from amniotic fluid (AF) and fetal blood (FB) METHODS: Retrospective study on 115 pregnancies with CMV primary infection. A total of 111 AF and 106 FB samples were investigated for various virological and non-virological markers. Detailed ultrasound examinations were performed at time of PD. RESULTS: Overall sensitivity of CMV PCR in FB (75.6%; 95%CI 60-87) and AF (72...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28198030/confined-placental-mosaicism-for-22q11-2-deletion-as-the-etiology-for-discordant-positive-nipt-results
#17
M Bunnell, C Zhang, C Lee, D W Bianchi, L Wilkins-Haug
22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000-6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11...
February 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28185830/children-with-type-1-gaucher-disease-changing-profiles-in-the-21st-century
#18
Deborah Elstein, Gheona Altarescu, Aya Abrahamov, Ari Zimran
Gaucher disease (GD) has phenotypic variability. Increased GD awareness especially among at-risk Ashkenazi Jews (AJ) and availability of non-invasive diagnosis induced trend to prenatal screening. We retrospectively assessed pediatric (<16years) Israeli AJ GD patients to ascertain demographics and phenotype at presentation and over-time because many were identified by large-scale screening. 55/67 patients born since 01/01/2000 are AJ with non-neuronopathic GD: 28 (50.9%) are N370S/N370S; 24 (43.6%) are N370S/other; 3 (3...
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#19
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28179200/laparoscopic-management-of-abdomininal-pregnancy
#20
Francesco Cosentino, Cristiano Rossitto, Luigi Carlo Turco, Salvatore Gueli Alletti, Carmine Vascone, Lavinia Di Meglio, Giovanni Scambia, Mario Malzoni
CASE REPORT OBJECTIVE: To show the surgical management in laparoscopy of a particular localization of an extra-uterine pregnancy misunderstood until 12 week of EG complicated by hemoperitoneum and abortion. BACKGROUND: The prevalence of ectopic pregnancy among women who go to an emergency department with first trimester bleeding, pain, or both ranges from 1 to 16 percent [1]. The most common localization of ectopic pregnancy are the Fallopian tubes while abdominal pregnancy represent at least 1 percent of extra-uterine pregnancies...
February 4, 2017: Journal of Minimally Invasive Gynecology
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