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https://www.readbyqxmd.com/read/28423190/the-clinical-utility-of-genome-wide-non-invasive-prenatal-screening
#1
Francesco Fiorentino, Sara Bono, Francesca Pizzuti, Sara Duca, Arianna Polverari, Monica Faieta, Marina Baldi, Laura Diano, Francesca Spinella
OBJECTIVE: In this study, we expanded conventional cell-free fetal DNA(cfDNA)-based non-invasive prenatal testing(NIPT) to cover the entire genome. We aimed to compare the performance of the two test in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening. METHOD: Genome-wide cfDNA analysis was offered to 12.114 pregnant women undergoing NIPT for common fetal aneuploidy. Sequencing data were analyzed using an algorithm optimized to identify aneuploidies and subchromosomal aberrations...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28420901/discrepancy-between-non-invasive-prenatal-genetic-testing-nipt-and-amniotic-chromosomal-test-due-to-placental-mosaicism-a-case-report-and-literature-review
#2
Kei Hayata, Yuji Hiramatsu, Hisashi Masuyama, Eriko Eto, Takashi Mitsui, Shoko Tamada
We experienced a case of advanced maternal age in which a fetus was found to be positive for trisomy 18 at re-examination following indeterminate non-invasive prenatal genetic testing (NIPT), the amniotic fluid chromosomal test revealed a normal karyotype, and confined placental mosaicism (CPM) was observed in an SNP microarray analysis of the placenta. The child was born with no defects or complications. In the present case, the result of the original NIPT at week 15 of pregnancy was indeterminate and the subsequent re-examination result was positive; since the definitive normal diagnosis was not reported until the latter half of week 21, the pregnant patient was subjected to psychological stress for a long period of time...
April 2017: Acta Medica Okayama
https://www.readbyqxmd.com/read/28420606/epigenetic-regulation-and-related-diseases-during-placental-development
#3
Liu Fulin, Zhou Jin, Zhang Wei, Wang Hui
The placenta is vital to fetal growth and development, as it bridges the fetus and the mother. Genome-wide epigenetic regulations (e.g., DNA methylation, histone modifications, non-coding RNAs) participate in many aspects of placenta development, including decidua of the uterus, trophoblast cell adhesion and invasion, angiogenesis and placental imprinted gene expression. Environmental factors during pregnancy, such as heavy metals, chemical compounds, modern assisted reproductive technology and the nutrient conditions, may cause abnormal placental epigenetics...
April 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28409863/the-influence-of-snp-based-chromosomal-microarray-and-nipt-on-the-diagnostic-yield-in-10-000-fetuses-with-and-without-fetal-ultrasound-anomalies
#4
Malgorzata I Srebniak, Maarten F C M Knapen, Marike Polak, Marieke Joosten, Karin E M Diderich, Lutgarde C P Govaerts, Marjan Boter, Joan N R Kromosoeto, Daniella Aloysia C M van Hassel, Gido Huijbregts, Wilfred F J van Ijcken, Roger Heydanus, Anneke Dijkman, Toon Toolenaar, Femke A T de Vries, Jeroen Knijnenburg, Attie T J I Go, Robert-Jan H Galjaard, Diane Van Opstal
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and non-invasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy...
April 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28406537/non-invasive-prenatal-screening-versus-prenatal-diagnosis-by-array-comparative-genomic-hybridization-a-comparative-retrospective-study
#5
Alexandros Sotiriadis, Ioannis Papoulidis, Elisavet Siomou, Elena Papageorgiou, Makarios Eleftheriades, Vasilios Papadopoulos, Maria Alexiou, Emmanouil Manolakos, Apostolos Athanasiadis
OBJECTIVE: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). METHODS: This is a comparative study using data from 2,779 fetuses, which underwent invasive prenatal diagnosis and the samples were analyzed using aCGH. The simulated NIPS assay would test for trisomies 21, 18, 13, monosomy X, 47,XXX, 47,XYY and 47,XXY. Indications for invasive testing were grouped into categories and the absolute, relative rates of pathogenic/likely pathogenic results of aCGH analysis that would not be detectable by NIPS, were calculated...
April 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28397214/-clearance-of-free-fetal-dna-after-delivery-of-fetuses-carrying-chromosomal-aneuploidies
#6
Lifang Wu, Xiaoling Lin, Shaohua Tang, Xueqin Xu, Chong Chen
OBJECTIVE: To explore the rules for free fetal DNA clearance after delivery of fetuses carrying chromosomal aneuploidies. METHODS: For 10 women carrying 18-to-25-gestation-week singletons confirmed to have chromosomal abnormalities by amniotic karyotyping, 5 mL of peripheral venous blood was drawn respectively before and 15 minutes, 30 minutes, 60 minutes, 120 minutes, 3 hours, 6 hours, 9 hours, 12 hours, 24 hours, 48 hours and 72 hours after their elective termination of pregnancies...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28385172/the-rate-of-invasive-testing-for-trisomy-21-is-reduced-after-implementation-of-nipt
#7
Louise Bjerregaard, Anne Betsagoo Stenbakken, Camilla Skov Andersen, Line Kristensen, Cecilie Vibeke Jensen, Peter Skovbo, Anne Nødgaard Sørensen
INTRODUCTION: The non-invasive prenatal test (NIPT) was introduced in the North Denmark Region in March 2013. NIPT is offered as an alternative to invasive tests if the combined first trimester risk of trisomy 21 (T21) is ≥ 1:300. The purpose of this study was to investigate the effect of NIPT implementation among high-risk pregnancies in a region with existing first-trimester combined screening for T21. The primary objective was to examine the effect on the invasive testing rate. METHODS: This was a retrospective observational study including high-risk singleton pregnancies in the North Denmark Region...
April 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28382695/discordant-non-invasive-prenatal-testing-nipt-a-systematic-review
#8
REVIEW
Tanja Schlaikjaer Hartwig, Louise Ambye, Steen Sørensen, Finn Stener Jørgensen
With a high sensitivity and specificity, NIPT is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total 206 discordant cases were included, of which 88% were false positive and 12% false negative. Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified...
April 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28377475/diagnosis-imaging-and-clinical-management-of-aortic-coarctation
#9
REVIEW
Elles J Dijkema, Tim Leiner, Heynric B Grotenhuis
Coarctation of the aorta (CoA) is a well-known congenital heart disease (CHD), which is often associated with several other cardiac and vascular anomalies, such as bicuspid aortic valve (BAV), ventricular septal defect, patent ductus arteriosus and aortic arch hypoplasia. Despite echocardiographic screening, prenatal diagnosis of CoA remains difficult. Most patients with CoA present in infancy with absent, delayed or reduced femoral pulses, a supine arm-leg blood pressure gradient (>20 mm Hg), or a murmur due to rapid blood flow across the CoA or associated lesions (BAV)...
April 4, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28369759/diagnostic-performance-and-costs-of-contingent-screening-models-for-trisomy-21-incorporating-non-invasive-prenatal-testing
#10
Susannah Maxwell, Peter O'Leary, Jan E Dickinson, Graeme K Suthers
BACKGROUND: Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. AIM: To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. METHODS: Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test...
March 29, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28366031/what-do-the-new-american-college-of-medical-genetics-and-genomics-acmg-guidelines-mean-for-the-provision-of-non-invasive-prenatal-genetic-screening
#11
Megan Allyse, Myra J Wick
In 2016, the American College of Medical Genetics and Genomics updated their practice guidelines on the provision of non-invasive prenatal genomic screening using cell-free DNA. This article lays out the changes to the guidelines and their implications for clinical practice. Impact Statement What is already known on this subject.cfDNA is being translated into prenatal clinical practice at a rapid pace. Various professional societies have attempted to provide ongoing guidance for this translation. What the results of this study add...
April 1, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28362581/non-invasive-fetal-ecg-signal-quality-assessment-for-multichannel-heart-rate-estimation
#12
Fernando Andreotti, Felix Grasser, Hagen Malberg, Sebastian Zaunseder
OBJECTIVE: The non-invasive fetal ECG (NI-FECG) from abdominal recordings offers novel prospects for prenatal monitoring. However, NI-FECG signals are corrupted by various non-stationary noise sources, making the processing of abdominal recordings a challenging task. In this contribution, we present an online approach that dynamically assess the quality of NI-FECG to improve fetal heart rate (FHR) estimation. METHODS: Using a Naive Bayes classifier, state-of-the-art and novel signal quality indices (SQIs), and an existing adaptive Kalman filter, FHR estimation was improved...
March 1, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28359305/antenatal-nephromegaly-and-propionic-acidemia-a-case-report
#13
Ségolène Bernheim, Georges Deschênes, Manuel Schiff, Isabelle Cussenot, Olivier Niel
BACKGROUND: Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. CASE PRESENTATION: We report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life...
March 30, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28355226/considering-medical-risk-information-and-communicating-values-a-mixed-method-study-of-women-s-choice-in-prenatal-testing
#14
An Chen, Henni Tenhunen, Paulus Torkki, Seppo Heinonen, Paul Lillrank, Vedran Stefanovic
INTRODUCTION: Nowadays, an important decision for pregnant women is whether to undergo prenatal testing for aneuploidies and which tests to uptake. We investigate the factors influencing women's choices between non-invasive prenatal testing (NIPT) and invasive prenatal tests in pregnancies with elevated a priori risk of fetal aneuploidies. METHODOLOGY: This is a mixed-method study. We used medical data (1st Jan 2015-31st Dec 2015) about women participating in further testing at Fetomaternal Medical Center at Helsinki University Hospital and employed Chi-square tests and ANOVA to compare the groups of women choosing different methods...
2017: PloS One
https://www.readbyqxmd.com/read/28338586/towards-microsurgical-correction-of-cleft-lip-ex-utero-via-restoration-of-craniofacial-developmental-programs
#15
Xue Dong, Wilmina N Landford, James Hart, Maurizio Risolino, Omer Kaymakcalan, Julia Jin, Yoshiko Toyoda, Elisabetta Ferretti, Licia Selleri, Jason A Spector
BACKGROUND: Cleft Lip with or without Palate (CL/P) is present in approximately 1 in 500-700 live births, representing the most common congenital craniofacial anomaly. Previously, we developed a unique murine model with compound Pbx deficiency that exhibits fully penetrant CL/P. To investigate the possibility of tissue repair at an early gestational stage, we designed a minimally invasive surgical approach suitable for intrauterine repair using Wnt9b-soaked collagen microspheres to restore craniofacial developmental programs for cleft correction...
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#16
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28306738/comparative-evaluation-of-the-minimally-invasive-karyotyping-mink-algorithm-for-non-invasive-prenatal-testing
#17
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
#18
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
#19
Tsz-Kin Lo, Kelvin Yuen-Kwong Chan, Anita Sik-Yau Kan, Po-Lam So, Choi-Wah Kong, Shui-Lam Mak, Chung-Nin Lee
No abstract text is available yet for this article.
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
#20
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
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