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Non invasive prenatal diagnosis

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https://www.readbyqxmd.com/read/29462630/pitfalls-in-assessing-chorioamnionicity-novel-observations-and-literature-review
#1
REVIEW
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
https://www.readbyqxmd.com/read/29458733/fertility-and-pregnancy-in-women-with-transfusion-dependent-thalassemia
#2
REVIEW
Katie T Carlberg, Sylvia T Singer, Elliott P Vichinsky
As more women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both the mother and baby requires concerted, collaborative efforts between practitioners and the family. Proactive counseling, early fertility evaluation, recent developments in reproductive technology, and optimal management of iron overload, have resulted in more successful pregnancies and the birth of healthy newborns. With advances in technology for prenatal screening and increased awareness to perform screening for hemoglobinopathies, healthy pregnancy outcomes have become the expectation...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#3
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/29438963/health-professionals-and-coroners-views-on-less-invasive-perinatal-and-paediatric-autopsy-a-qualitative-study
#4
Celine Lewis, Melissa Hill, Owen J Arthurs, John C Hutchinson, Lyn S Chitty, Neil Sebire
OBJECTIVE: To assess health professionals' and coroners' attitudes towards non-minimally and minimally invasive autopsy in the perinatal and paediatric setting. METHODS: A qualitative study using semistructured interviews. Data were analysed thematically. RESULTS: Twenty-five health professionals (including perinatal/paediatric pathologists and anatomical pathology technologists, obstetricians, fetal medicine consultants and bereavement midwives, intensive care consultants and family liaison nurses, a consultant neonatologist and a paediatric radiologist) and four coroners participated...
February 8, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29419860/-performance-of-prenatal-screening-by-non-invasive-cell-free-fetal-dna-testing-for-women-with-various-indications
#5
Bin Zhang, Lingyan Pan, Huiyan Wang, Jianbing Liu, Beiyi Lu, Yingping Chen, Wei Long, Bin Yu
OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29398584/endoscopic-balloon-dilatation-in-primary-obstructive-megaureter-long-term-results
#6
I Casal Beloy, I Somoza Argibay, M García González, M A García Novoa, L M Míguez Fortes, T Dargallo Carbonell
BACKGROUND: Open neoureterocystostomy is the traditional surgical treatment for primary obstructive megaureter (POM). Endoscopic balloon dilation is a new minimally invasive alternative. It has been shown to be a safe and effective endoscopic procedure over short-term follow-up; however, few studies have shown its long-term efficacy. OBJECTIVE: The aim of this study was to evaluate the long-term results and complications of balloon dilation for the treatment of primary obstructive megaureter in infants...
November 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29380944/optimal-non-invasive-diagnosis-of-fetal-achondroplasia-combining-ultrasonography-and-circulating-cell-free-fetal-dna-analysis
#7
Alexandre J Vivanti, Jean-Marc Costa, Audrey Rosefort, Pascale Kleinfinger, Laurence Lohmann, Anne-Gael Cordier, Alexandra Benachi
OBJECTIVE: To assess the performance of non-invasive prenatal testing of achondroplasia using high-resolution melting (HRM) analysis. To propose an optimal diagnosis strategy combining ultrasound scan and cell-free fetal DNA (cffDNA) analysis. METHODS: Prospective multicenter study. CffDNA was extracted from maternal blood from women at risk for fetal achondroplasia (paternal achondroplasia, previous affected child or suspected rhizomelic shortening). The presence of one of the two main FGFR3 mutations was determined by HRM combined with confirmation by SNaPshot minisequencing...
January 30, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29380343/prenatal-diagnosis-and-socioeconomic-status-in-the-non-invasive-prenatal-testing-era-a-population-based-study
#8
Lisa Hui, Jenna Barclay, Alice Poulton, Briohny Hutchinson, Jane L Halliday
BACKGROUND: Advances in technology can bring great benefits to human health, but their implementation may be influenced by socioeconomic factors, particularly in the field of prenatal screening for Down syndrome. AIM: To analyse screening test indications for, and diagnostic yield of, invasive prenatal diagnostic testing (PNDx) according to socioeconomic status. METHODS: Retrospective analysis of population-based data on PNDx and karyotype results for 2014-2015 in the Australian state of Victoria...
January 30, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29363829/genome-wide-non-invasive-prenatal-screening-for-all-cytogenetically-visible-imbalances
#9
EDITORIAL
Peter Benn, Francesca Romana Grati
The fetal component of maternal plasma cell-free DNA is primarily derived from cytotrophoblasts and this is the same lineage as the cells routinely analyzed in chorionic villus sample (CVS) direct or semi-direct preparations. We therefore developed an initial theoretical projection for a genome-wide non-invasive prenatal test (NIPT) under an assumption that will identify a similar spectrum of cytogenetically unbalanced abnormalities. The specific chromosome abnormalities likely to be detected, additional studies, clinical interpretation issues and counseling burden were considered...
January 24, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#10
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29318630/conflict-of-interest-related-to-clinical-practice-is-under-reported-the-case-of-non-invasive-prenatal-testing
#11
Adam J Wolfberg
Authors of policy statements from the American College of Obstetrics and Gynecology and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in Obstetrics and Gynecology and the American Journal of Obstetrics and Gynecology, again, without acknowledgement of the potential for conflict of interest. The case of non-invasive prenatal testing, which has threatened the role of maternal-fetal medicine in the practice of prenatal screening and diagnosis, and has significantly reduced the demand for invasive prenatal diagnosis, illustrates the importance of identifying this potential conflict...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29314147/cfdna-screening-and-diagnosis-of-monogenic-disorders-where-are-we-heading
#12
Eunice Ka Long Chiu, Winnie Wai In Hui, Rossa Wai Kwun Chiu
Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma...
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#13
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
January 2, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29226487/prenatal-diagnostic-testing-and-atypical-chromosome-abnormalities-following-combined-first-trimester-screening-implications-for-contingent-models-of-non-invasive-prenatal-testing
#14
Anthea Lindquist, Alice Poulton, Jane Halliday, Lisa Hui
OBJECTIVES: To perform a population-based analysis of a combined first trimester screening (CFTS) cohort for (i) changes in uptake of invasive prenatal diagnosis by CFTS risk, and (ii) prevalence and methods of ascertainment of atypical chromosome abnormalities. METHODS: Retrospective cohort study of state-wide prenatal datasets from Victoria, Australia. A three-step approach was undertaken: i) record-linkage between serum screening and diagnostic results; ii) comparison of rates of diagnostic testing by CFTS risk categories in a 2014-15 CFTS cohort with a historical cohort from 2002-04; (iii) detailed analysis of atypical abnormalities from 2014-15 by CFTS risk, individual serum analyte level and indications for diagnostic testing...
December 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29209991/current-emerging-and-future-applications-of-digital-pcr-in-non-invasive-prenatal-diagnosis
#15
Juliette Nectoux
Digital PCR (dPCR) approaches have been developed for the detection of nucleic acids of low abundance, such as cell-free DNA, and represent an attractive and sensitive alternative to conventional methods, particularly in the field of non-invasive prenatal diagnosis (NIPD). In this review, we present the principle of dPCR and its applications in the field of prenatal diagnosis from current and emerging uses, such as fetal gender determination, rhesus blood group D antigen genotyping, or monogenic disorders prenatal testing, to future applications, such as the diagnosis and monitoring of pregnancy-related disorders...
December 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29205694/fetal-sex-discordance-in-a-monochorionic-twin-pregnancy-following-intracytoplasmic-sperm-injection-a-case-report-of-chimerism-and-review-of-the-literature
#16
Nihal Ş Uysal, Çağrı Gülümser, Zerrin Y Çelik, Hulusi B Zeyneloğlu, Filiz F B Yanık
A 39-year-old woman who became pregnant with twins after an intracytoplasmic sperm injection was referred at the ninth gestational week to determine chorionicity. Ultrasonographic examination showed a monochorionic diamniotic twin pregnancy. First trimester nuchal translucency measurements of the fetuses were 1.6 and 2.7 mm. A non-invasive prenatal test was performed and revealed low risk. One fetus appeared to be female and the other male at the 14th gestational week. Second trimester anatomic scanning results were otherwise normal for both fetuses...
December 3, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29170101/a-new-approach-of-digital-pcr-system-for-non-invasive-prenatal-screening-of-trisomy-21
#17
Seung Yong Lee, Seung Jun Kim, Sung-Hee Han, Joon Soo Park, Hyo Jung Choi, Jeong Jin Ahn, Moon-Ju Oh, Sung Han Shim, Dong Hyun Cha, Seung Yong Hwang
BACKGROUND: Non-invasive prenatal screening (NIPS) of trisomy 21 (T21) using digital PCR (dPCR) with several advantages will be very effective. Here, we developed a dPCR system for T21 screening which allows high sensitivity and real-time diagnosis and thus overcome sequence based analysis. METHODS: Cut-off value was established using DNA extracted from all 157 T21 negative samples including 47 pregnant woman samples and 3 T21 positive pregnant woman samples extracted from 4 different sample types...
January 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#18
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29118296/mismatch-between-fetal-sexing-and-birth-phenotype-a%C3%A2-case-of-complete-androgen-insensitivity-syndrome
#19
Keisuke Yoshii, Yasuhiro Naiki, Yumiko Terada, Maki Fukami, Reiko Horikawa
With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance...
November 9, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29031022/fetal-analysis-with-invasive-method-fa-i-and-fetal-analysis-with-non-invasive-method-fa-ni-replacing-current-deceptively-imprecise-clinical-nomenclature
#20
Frank A Chervenak, Laurence B McCullough, Joachim Dudenhausen
There is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of "prenatal testing" and "prenatal screening" - along with their subsets of "ultrasound testing," "ultrasound screening," "non-invasive prenatal testing," "non-invasive prenatal screening," and "prenatal diagnosis" - has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: "fetal analysis with invasive method" (FA-I) and "fetal analysis with non-invasive method," (FANI) using various techniques...
November 27, 2017: Journal of Perinatal Medicine
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