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Noninvasive prenatal

Elisa Bevilacqua, Serena Resta, Andrew Carlin, Xin Kang, Teresa Cos Sanchez, Jérôme de Marchin, Jacques C Jani
Roche's Ariosa HarmonyTM Prenatal Test, a noninvasive cfDNA (cell-free DNA) method for major trisomies has been available since January-2013 at the authors unit and tests were sent to California. From July-2017 onwards, prenatal cfDNA has been reimbursed in Belgium for all pregnancies, however since then samples are sent to a local technology transfer center. Little data are available on patient's profile and choices towards cfDNA and on the performance of local technology transfer centers. Areas covered: The profiles and choices of women regarding this test were evaluated...
June 18, 2018: Expert Review of Molecular Diagnostics
Tally Lerman-Sagie, Daniella Prayer, Sophia Stöcklein, Gustavo Malinger
The embryologic development of the cerebellum extends over a long time period, thus making it vulnerable to a broad spectrum of malformations and disruptions. Knowledge of the main steps of fetal posterior fossa development; the normal imaging patterns at different stages of embryogenesis; the large spectrum of cerebellar malformations; and their clinical presentations enables diagnosis and precise counseling of parents. Sonography is the most important imaging method for the screening of cerebellar malformations since it is noninvasive, widely available, and safe for both mother and child...
2018: Handbook of Clinical Neurology
Thuy T M Ngo, Mira N Moufarrej, Marie-Louise H Rasmussen, Joan Camunas-Soler, Wenying Pan, Jennifer Okamoto, Norma F Neff, Keli Liu, Ronald J Wong, Katheryne Downes, Robert Tibshirani, Gary M Shaw, Line Skotte, David K Stevenson, Joseph R Biggio, Michal A Elovitz, Mads Melbye, Stephen R Quake
Noninvasive blood tests that provide information about fetal development and gestational age could potentially improve prenatal care. Ultrasound, the current gold standard, is not always affordable in low-resource settings and does not predict spontaneous preterm birth, a leading cause of infant death. In a pilot study of 31 healthy pregnant women, we found that measurement of nine cell-free RNA (cfRNA) transcripts in maternal blood predicted gestational age with comparable accuracy to ultrasound but at substantially lower cost...
June 8, 2018: Science
Se Song Jang, Byung Chan Lim, Seong-Keun Yoo, Jong-Yeon Shin, Ki-Joong Kim, Jeong-Sun Seo, Jong-Il Kim, Jong Hee Chae
For the noninvasive prenatal diagnosis (NIPD) of X-linked recessive diseases such as Duchenne muscular dystrophy (DMD), maternal haplotype phasing is a critical step for dosage analysis of the inherited allele. Until recently, the proband-based indirect haplotyping method has been preferred despite its limitations for use in clinical practice. Here, we describe a method for directly determining the maternal haplotype without requiring the proband's DNA in DMD families. We used targeted linked-read deep sequencing (mean coverage of 692×) of gDNA from 5 mothers to resolve their haplotypes and predict the mutation status of the fetus...
June 6, 2018: Scientific Reports
Ebru Dündar Yenilmez, Umut Kökbaş, Kezban Kartlaşmış, Levent Kayrın, Abdullah Tuli
Prenatal detection of the fetal RHD status can be useful in the management of RhD incompatibility to identify fetuses at risk of hemolytic disease. Hemolytic disease causes morbidity and mortality of the fetus in the neonatal period. The routine use of antenatal and postnatal anti-D prophylaxis has reduced the incidence of hemolytic disease of the fetus and newborn. This study describe the detection of fetal RhD antigens in blood of RhD negative pregnant women using a nanopolymer coated electrochemical biosensor for medical diagnosis...
2018: PloS One
Minh-Duy Phan, Thong V Nguyen, Huong N T Trinh, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Tho T Q Nguyen, Thuy T T Do, Tuyet T D Hoang, Kiet D Truong, Hoa Giang, Hoai-Nghia Nguyen
OBJECTIVE: Noninvasive prenatal testing (NIPT) for fetal aneuploidies has been widely adopted in developed countries. Despite the sharp decrease in the cost of massively parallel sequencing, the technical know-how and skilled personnel are still one of the major limiting factors for applying this technology to NIPT in low-income settings. Here, we present the establishment and validation of our NIPT procedure called triSure for detection of fetal aneuploidies. METHODS: We established the triSure algorithm based on the difference in proportion of fetal and maternal fragments from the target chromosome to all chromosomes...
June 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
Takahiro Yamada, Akihiko Sekizawa, Yosuke Fujii, Tatsuko Hirose, Osamu Samura, Nobuhiro Suzumori, Kiyonori Miura, Hideaki Sawai, Fumiki Hirahara, Haruhiko Sago
The data collected by nation-wide study of noninvasive prenatal genetic testing (NIPT) for trisomy 21 from 21,610 pregnant women with advanced maternal age in Japan were reported. Among 188 NIPT-positive cases, 180 cases were true positive. The incidence of aneuploidy according to maternal age was estimated using a state-space model. Although, the frequency of trisomy increased exponentially with maternal age as previously reported, the maternal age-specific risk for trisomy 21 that was based on the clinical performance of NIPT was lower than the predicted risk in previous Western cohorts based on the data from invasive prenatal testing (Bayesian two-sided tail-area probability P = 0...
May 30, 2018: Journal of Human Genetics
Hazar Haidar, Meredith Vanstone, Anne-Marie Laberge, Gilles Bibeau, Labib Ghulmiyyah, Vardit Ravitsky
Noninvasive prenatal testing (NIPT), based on the detection of cell-free fetal DNA in maternal blood, has transformed the landscape of prenatal care by offering clinical benefits (noninvasive, high specificity and sensitivity, early detection of abnormalities) compared to existing prenatal screening tests. NIPT has expanded rapidly and is currently commercially available in most of the world. As NIPT spreads globally, culturally sensitive and ethically sound implementation will require policies that take into consideration the social and cultural context of prenatal testing decisions...
April 2018: AJOB Empirical Bioethics
Bin Yu, Hong Li, Ying-Ping Chen, Bin Zhang, Ying Xue, Quanze He, Qin Zhou, Zhengmao Cai, Ting Wang
OBJECTIVE: To explore the clinical effect of noninvasive prenatal screening (NIPS) for the women at advanced maternal age (AMA) and discuss the relationship between women's age and NIPS effect. METHODS: Fourteen thousand thirty-five women at AMA who accepted NIPS from two prenatal diagnosis centers were recruited for this study. NIPS were checked by Illumina Next CN 500. All the AMA women received prenatal genetic counseling, selected prenatal diagnosis and different clinical treatments according to the results of NIPS...
May 29, 2018: Journal of Maternal-fetal & Neonatal Medicine
Ya Xing, Jimmy Lloyd Holder, Yong Liu, Meizhen Yuan, Qi Sun, Xiaoxing Qu, Linbei Deng, Jia Zhou, Yingjun Yang, Ming Guo, Sau-Wai Cheung, Luming Sun
PURPOSE: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome due to terminal chromosome 4p deletions. We explored prenatal diagnosis of WHS by ultrasound as well as karyotype and single nucleotide polymorphism array (SNP array) to characterize the structural variants of WHS prenatally. METHODS: Ten prenatal cases of WHS were evaluated for the indication of the invasive testing, the ultrasound features, and cytogenetic and microarray results. RESULTS: Eight cases were diagnosed by karyotyping and SNP array, while two cases were detected only by SNP array...
May 28, 2018: Archives of Gynecology and Obstetrics
Laurence Canaple, Aline Gréchez-Cassiau, Franck Delaunay, Ouria Dkhissi-Benyahya, Jacques Samarut
Most living organisms show circadian rhythms in physiology and behavior. These oscillations are generated by endogenous circadian clocks, present in virtually all cells where they control key biological processes. To study peripheral clocks in vivo, we developed an original model, the Rev-Luc mouse to follow noninvasively and longitudinally Rev-Luc oscillations in peripheral clocks using in vivo bioluminescence imaging. We found in vitro and in vivo a robust diurnal rhythm of Rev-Luc, mainly in liver, intestine, kidney and adipose tissues...
May 26, 2018: Cellular and Molecular Life Sciences: CMLS
Venkataswamy Eshwarachary, Priya Kadam, Sireesha Movva, Shruthi Lingaiah, Riyaz M Akther, Franics X Kidangan, Kiran C Gowda, Rudra R K Golakoti, Meena Lall, Surbhi Mahajan, Pushpa Saviour, Ratna Puri, Ishwar C Verma, Ramprasad L Vedam
INTRODUCTION: Non invasive prenatal testing (NIPT) is a reliable screening method for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, Angelman and Prader-Willi syndromes in comparison to the available screening methods. Prenatal screening of Turners syndrome is possible by ultrasound in certain conditions only if there is complete loss of X chromosome...
May 24, 2018: Journal of Maternal-fetal & Neonatal Medicine
Kun Sun, Peiyong Jiang, Ada I C Wong, Yvonne K Y Cheng, Suk Hang Cheng, Haiqiang Zhang, K C Allen Chan, Tak Y Leung, Rossa W K Chiu, Y M Dennis Lo
Cell-free DNA in human plasma is nonrandomly fragmented and reflects genomewide nucleosomal organization. Previous studies had demonstrated tissue-specific preferred end sites in plasma DNA of pregnant women. In this study, we performed integrative analysis of preferred end sites with the size characteristics of plasma DNA fragments. We mined the preferred end sites in short and long plasma DNA molecules separately and found that these "size-tagged" ends showed improved accuracy in fetal DNA fraction estimation and enhanced noninvasive fetal trisomy 21 testing...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
Cristina Martínez-Payo, Isabel Bada-Bosch, María Martínez-Moya, Tirso Pérez-Medina
AIM: Detection of cell-free fetal DNA in maternal blood is a type of noninvasive prenatal diagnosis test (NIPT), which has already been known for some time but has not yet been introduced in most of public hospitals in Spain. How the implementation of cell-free fetal DNA (cffDNA) in a contingent protocol has influenced the aneuploidy screening in our hospital is described. METHODS: Two cohorts of patients with positive combined screening were compared: the first one (years 2012-2013, 5747 patients) from a period of time in which the protocol valid until March 2016 - that included the use of invasive procedures - was applied; and the second one in which the current protocol - that included NIPT versus invasive procedures - was applied (first 7 months after protocol implementation, 898 patients)...
May 10, 2018: Journal of Obstetrics and Gynaecology Research
Ron Hochstenbach, Martin G Elferink, Patrick H A van Zon, Klaske D Lichtenbelt, Jeske van Harssel, Heleen Schuring-Blom, Godelieve C M L Page-Christiaens
One of the confounders in noninvasive prenatal testing (NIPT) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell-free DNA (cfDNA) pool by cytotrophoblasts representing a demised, aneuploid cotwin may lead to a false-positive outcome for a normal, viable twin. We show that a vanishing trisomy-14 twin contributes to cfDNA for more than 2 weeks after demise.
May 2018: Clinical Case Reports
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
A Taksande, R Meshram, A Lohakare, S Purandare, U Biyani, J Vagha
Background: Congenital Heart Disease (CHD) is the commonest group of congenital malformations and affects 7-8 per 1000 live born newborns. Nevertheless, it is estimated that more than 50% of babies with undiagnosed CHD are not detected by routine neonatal cardiac examination. Aim: To find the incidence of CHD in newborns and to determine the accuracy of pulse oximetry for detecting clinically unrecognized critical congenital heart disease (CCHD) in the newborns...
July 2017: Images in Paediatric Cardiology
Perrin C White
PURPOSE OF REVIEW: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated. RECENT FINDINGS: The basic biochemistry and genetics of CAH have been known for decades but continue to be refined by the discoveries of an alternative 'backdoor' metabolic pathway for adrenal androgen synthesis and the secretion of 11-hydroxy and 11-keto analogs of known androgens, by the elucidation of hundreds of new mutations, and by the application of high-throughput sequencing techniques to noninvasive prenatal diagnosis...
June 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
Pascal Borry, Maddalena Favaretto, Ann Batthyany, Eline Boey, Sophie Van Tongerloo, Marc Dooms, Isabelle Huys
AIM: To explore the opinions of young (future) parents toward noninvasive prenatal testing. MATERIALS & METHODS: A questionnaire was administrated. RESULTS:  A total of 1006 surveys were completed by visitors of 40 secondhand clothing fairs spread equally over Flanders (Belgium). The respondents expressed an overall positive opinion toward the use and implementation of a noninvasive prenatal test (NIPT). Most respondents claimed that they would test their unborn child for genetic disorders, even if this was to result in a termination of the pregnancy...
January 2018: Personalized Medicine
Hu Zeng, Bo He, Chengqi Yi, Jinying Peng
Analysis of patient's materials like cells or nucleic acids obtained in a minimally invasive or noninvasive manner through the sampling of blood or other body fluids serves as liquid biopsies, which has huge potential for numerous diagnostic applications. Circulating cell-free DNA (cfDNA) is explored as a prognostic or predictive marker of liquid biopsies with the improvements in genomic and molecular methods. DNA methylation is an important epigenetic marker known to affect gene expression. cfDNA methylation detection is a very promising approach as abnormal distribution of DNA methylation is one of the hallmarks of many cancers and methylation changes occur early during carcinogenesis...
April 20, 2018: Journal of Genetics and Genomics, Yi Chuan Xue Bao
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