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Non invasive prenatal diagnosis

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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
#1
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
#2
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/28406537/non-invasive-prenatal-screening-versus-prenatal-diagnosis-by-array-comparative-genomic-hybridization-a-comparative-retrospective-study
#3
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
#4
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/28377475/diagnosis-imaging-and-clinical-management-of-aortic-coarctation
#5
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
#6
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/28359305/antenatal-nephromegaly-and-propionic-acidemia-a-case-report
#7
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/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#8
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/28272531/non-invasive-prenatal-diagnosis-of-beta-thalassemia-by-semiconductor-sequencing-a-feasibility-study-in-the-sardinian-population
#9
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...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28268196/prenatal-ultrasound-diagnosis-and-outcome-of%C3%A2-placenta-previa-accreta-after-cesarean-delivery-a-systematic-review-and-meta-analysis
#10
REVIEW
Eric Jauniaux, Amar Bhide
BACKGROUND: Women with a history of previous cesarean delivery, presenting with a placenta previa, have become the largest group with the highest risk for placenta previa accreta. OBJECTIVE: The objective of the study was 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 1 or more prior cesarean deliveries...
March 6, 2017: American Journal of Obstetrics and Gynecology
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: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28209493/quantitative-analysis-of-fetal-facial-morphology-using-3d%C3%A2-ultrasound-and-statistical-shape-modeling-a%C3%A2-feasibility%C3%A2-study
#13
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 3-dimensional ultrasound may raise the suspicion of an underlying genetic conditions but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and noninvasive 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 3-dimensional ultrasound volumes and statistical shape modeling...
February 14, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28207161/prenatal-diagnosis-of-congenital-cytomegalovirus-infection-in-115-cases-a-5-years-single-center-experience
#14
M Enders, A Daiminger, S Exler, K Ertan, G Enders, R Bald
OBJECTIVE: The objective of this study is to investigate the diagnostic value of invasive prenatal diagnosis (PD) of congenital cytomegalovirus (CMV) infection from amniotic fluid (AF) and fetal blood (FB). METHODS: A retrospective study was conducted 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...
April 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28185830/children-with-type-1-gaucher-disease-changing-profiles-in-the-21st-century
#15
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/28179200/laparoscopic-management-of-abdomininal-pregnancy
#16
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
https://www.readbyqxmd.com/read/28122823/identification-of-candidate-surface-antigens-for-non-invasive-prenatal-diagnosis-by-comparative-global-gene-expression-on-human-fetal-mesenchymal-stem-cells
#17
C Götherström, J Chan, K O'Donoghue, N M Fisk
No abstract text is available yet for this article.
March 1, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28120840/non-invasive-prenatal-diagnosis-of-spinal-muscular-atrophy-by-relative-haplotype-dosage
#18
Michael Parks, Samantha Court, Benjamin Bowns, Siobhan Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen
Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, we have now developed a test for the NIPD of an autosomal-recessive disorder, spinal muscular atrophy (SMA). Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single-nucleotide polymorphisms across a 6 Mb genomic window on chromosome 5 containing the SMN1 gene...
January 25, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28119110/attitudes-toward-prenatal-genetic-testing-and-therapeutic-termination-of-pregnancy-among-parents-of-offspring-with-prader-willi-syndrome
#19
Noa Even-Zohar Gross, Talia Geva-Eldar, Yehuda Pollak, Harry J Hirsch, Itai Gross, Varda Gross-Tsur
INTRODUCTION: Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. OBJECTIVE: To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus...
April 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28109006/attitudes-towards-non-invasive-prenatal-diagnosis-among-obstetricians-in-pakistan-a-developing-islamic-country
#20
Shenaz Ahmed, Hussain Jafri, Yasmin Rashid, Gerald Mason, Yasmin Ehsan, Mushtaq Ahmed
OBJECTIVES: Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes towards NIPT among obstetricians in Pakistan, a developing, Islamic country. METHODS: A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine...
January 20, 2017: Prenatal Diagnosis
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