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invasive prenatal tests

Melih Velipasaoglu, Metin Sentürk, Reyhan Ayaz, Barbaros Atesli, H Mete Tanir
This study aimed to elucidate the diagnostic process, the associated anomalies and the perinatal outcomes of right aortic arch (RAA) in a group of low-risk patients. The obstetric imaging database and digital patient files were reviewed between January 2015 and June 2016. There were 12 RAA cases detected prenatally. Seven foetuses had an aberrant left subclavian artery and one foetus had mirror image branching. The prevalence of RAA was 1.8 in 1000. Invasive prenatal diagnosis was offered to patients and seven tests were performed...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Chitra Andrew, Teena Koshy, Shivani Gopal, Solomon Franklin Durairaj Paul
This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Aimée C Dane, Madelyn Peterson, Yvette D Miller
Adequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women's information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited decision support tool...
March 17, 2018: Journal of Genetic Counseling
Kathryn J Gray, Louise E Wilkins-Haug
Prenatal aneuploidy screening changed significantly in 2012 when cell-free fetal deoxyribonucleic acid (DNA) was introduced as a noninvasive prenatal test. A noninvasive prenatal test detects cell free fragments of fetal DNA from the placenta circulating in maternal blood that coexist with cell-free DNA (cfDNA) of maternal origin. Using next-generation sequencing, the noninvasive prenatal test compares maternal and fetal cfDNA ratios for chromosomes of interest (i.e., 21, 18, 13, X, and Y) to assess chromosomal aneuploidy...
April 2018: Pediatric Radiology
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Virginie Chesnais, Alban Ott, Emmanuel Chaplais, Samuel Gabillard, Diego Pallares, Christelle Vauloup-Fellous, Alexandra Benachi, Jean-Marc Costa, Eric Ginoux
Human cytomegalovirus (HCMV) primary infections of pregnant women can lead to congenital infections of the fetus that could have severe impacts on the health of the newborn. Recent studies have shown that 10-100 billion DNA fragments per milliliter of plasma are circulating cell-free. The study of this DNA has rapidly expanding applications to non-invasive prenatal testing (NIPT). In this study, we have shown that we can detect viral specific reads in the massively parallel shotgun sequencing (MPSS) NIPT data...
March 12, 2018: Scientific Reports
Sara Filoche, Beverley Lawton, Angela Beard, Anthony Dowell, Peter Stone
Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value...
December 2017: Journal of Primary Health Care
Kathryn M Reese, Jennifer Czerwinski, Sandra Darilek, Anthony Johnson, Malorie Jones, Claire N Singletary
The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15)...
March 10, 2018: Journal of Genetic Counseling
Amihood Singer, Idit Maya, Arie Koifman, Nadra Nasser Samra, Hagit N Baris, Tzipora Falik-Zaccai, Shay Ben Shachar, Lena Sagi-Dain
INTRODUCTION: Fetal echogenic bowel is a frequent sonographic finding, demonstrated in about 1% of pregnancies. The advised evaluation of fetal echogenic bowel includes maternal serology, genetic testing for cystic fibrosis, detailed sonographic anatomic survey, and invasive prenatal testing for fetal chromosomal aberrations. The objective of our study was to evaluate the risk for clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated echogenic bowel...
March 6, 2018: Early Human Development
Chun Feng, Zhaobo He, Bo Cai, Jianhong Peng, Jieping Song, Xuechen Yu, Yue Sun, Jing Yuan, Xingzhong Zhao, Yuanzhen Zhang
Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral blood may serve as a prospective testing method competing with the cell-free DNA, in non-invasive prenatal testing (NIPT). Methods: Herein, we introduce a facile and effective lab-on-a-chip method of fNRBCs detection using a capture-releasing material that is composed of biotin-doped polypyrrole nanoparticles. To enhance local topographic interactions between the nano-components and fNRBC, a specific antibody, CD147, coated on the nanostructured substrate led to the isolation of fNRBCs from maternal peripheral blood...
2018: Theranostics
Karin Huijsdens-van Amsterdam, Roy Straver, Merel C van Maarle, Alida C Knegt, Diane Van Opstal, Frank Sleutels, Dominique Smeets, Erik A Sistermans
PurposeUsing genome-wide noninvasive prenatal screening (NIPS), we detected a 20-megabase specific deletion starting at 10q25 in eight pregnancies. The deletion could not be confirmed by invasive testing. Since all 10(q25→︀qter) deletions started close to the FRA10B fragile site in 10q25, we investigated whether the pregnant women were indeed carriers of FRA10B.MethodsWe performed NIPS analysis for all autosomes using single-read sequencing. Analysis was done with the WISECONDOR algorithm. Culture of blood lymphocytes with bromodeoxyuridine was used to detect FRA10B expansions...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Antoni Borrell
Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single-gene, causing intellectual and neurodevelopmental disability...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Harini Ravi, Gabriel McNeill, Shruti Goel, Steven D Meltzer, Nathan Hunkapiller, Allison Ryan, Brynn Levy, Zachary P Demko
INTRODUCTION: Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma has been widely adopted. Recently, NIPT coverage has expanded to detect subchromosomal abnormalities including the 22q11.2 deletion. Validation of a SNP-based NIPT for detection of 22q11.2 deletions demonstrating a high sensitivity (97.8%) and specificity (99.75%) has been reported. We sought to further demonstrate the performance of a revised version of the test in a larger set of pregnancy plasma samples...
2018: PloS One
Jing Lu, Yvonne Kwun Yue Cheng, Yuen Ha Ting, Kwok Ming Law, Tak Yeung Leung
Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) Discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in one fetus, or dizygotic twins forming a monochorionic placenta; (2) Separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) False negative and false positive λ sign can arise for various reasons, and in partial monochorionic / dichorionic placentas both T and λ sign may co-exist; (4) Intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; (5) Errors in ascertaining amnionicity by the visualization of thin inter-twin amniotic membranes and the number of yolk sacs...
February 17, 2018: American Journal of Obstetrics and Gynecology
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
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
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
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
Melissa Stosic, Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) identifies microdeletions and duplications undetected on karyotype analysis. Copy number variants (CNVs) occur in 1% to 1.7% of all pregnancies, with clinical implications. All women undergoing invasive testing for routine indications should be offered microarray. Clinically significant CNVs are seen in approximately 6% of pregnancies with ultrasound anomalies, making CMAs the current standard of cytogenomic analysis. Clinicians should be familiar with different technologies and laboratory reporting practices...
March 2018: Obstetrics and Gynecology Clinics of North America
Ji Hyae Lim, Bom Yi Lee, Jin Woo Kim, You Jung Han, Jin Hoon Chung, Min Hyoung Kim, Dong Wook Kwak, So Yeon Park, Hee Back Choi, Hyun Mee Ryu
PURPOSE: Recently, fetal placenta-specific epigenetic regions (FSERs) have been identified for quantification of cell-free fetal DNA (cff-DNA) for non-invasive prenatal testing (NIPT). The aim of this study was to evaluate the efficiencies of a column-based kit and magnetic bead-based kit for quantification of methylated FSERs from maternal plasma. METHODS: Maternal plasma was extracted from normal pregnant women within the gestational age of 10~13 weeks (n = 24)...
February 8, 2018: Journal of Assisted Reproduction and Genetics
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