16 papers · ranked by Valyu relevance
Lizzy Teleboshe Paul, Mahmut Cerkez Ergoren
Prenatal testing provides crucial information about the health status of fetuses as well as recommending better treatment. For the past decades, prenatal testing using chorionic villus sampling and amniocentesis were the two majorly used forms of invasive prenatal diagnostic approaches. However, to facilitate prenatal…
Alexander Muacevic, John R Adler, Himanshu Raj, Pallavi Yelne
The cell-free fetal DNA (cffDNA) analysis for screening fetal genetic anomalies has increased dramatically since its commercialization in 2011 worldwide. In the early weeks of pregnancy, it offers a hassle-free, non-invasive procedure of antenatal screening. It guides and protects mothers from undergoing unwanted…
Nada Eltabbakh, Yalnaz Mohasin, Rafiea Jeddy
Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a less invasive approach to prenatal chromosomal disease screening, providing prospective parents with vital information to better prepare for their…
Olga Žilina, Kadri Rekker, Lauris Kaplinski, Martin Sauk + 9 more
The study aimed to validate a whole-genome sequencing-based NIPT method and our newly developed NIPTmer analysis software with the potential to integrate the pipeline into prenatal clinical care in Estonia. In total, 447 maternal blood samples were included to the study. Analysis pipeline involved whole-genome library…
Yeshey Dorjey, Tashi Gyeltshen, Thinley Dorji, Don Eliseo Lucero‐Prisno III + 4 more
'Don Eliseo Lucero‐Prisno III' 'Mimi Lhamu Mynak' 'Sonam Gyamtsho' 'Tashi Tshomo' 'Phurb Dorji'] Title: ABSTRACT Prenatal genetic testing is to determine the possibility of the fetus having a genetic aberration or birth defect. Prenatal screening consists of serum analytes screening with or without nuchal translucency…
Carmen Prior-de Castro, Clara Gómez-González, Raquel Rodríguez-López, Hada C. Macher
Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be performed through invasive and non-invasive methods. A distinction…
Amar Verma
Antenatal screening for fetal abnormality should be offered to all women, if available In all cases of antenatal screening, the woman must be fully informed and understand the implications of the test, be promptly advised of their test result and be referred for further management and definitive diagnosis if their…
Jaroslav Budis, Juraj Gazdarica, Jan Radvanszky, Gabor Szucs + 10 more
Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable number of samples that cannot be concluded with certainty. Such…
Jaroslav Budiš, Juraj Gazdarica, Ján Radvánszky, Gábor Szűcs + 10 more
'Marcel Kucharík' 'Lucia Striešková' 'Iveta Gazdaricova' 'Mária Haršányová' 'František Ďuriš' 'Gabriel Minárik' 'Martina Sekelská' 'Bálint Nagy' 'Ján Turňa' 'Tomáš Szemes'] Motivation. Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the…
Joan Camunas-Soler, Hojae Lee, Louanne Hudgins, Susan R. Hintz + 3 more
Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling and amniocentesis. This is in contrast with screening for common aneuploidies, for which noninvasive methods with a single maternal blood sample have become standard…
Minyue Dong, Liwei Deng, Huan Jin, Jinsen Cai + 11 more
The demand of non-invasive prenatal testing for autosomal aneuploidy using cell-free fetal DNA (cffDNA) in maternal plasma is a highly sought-after diagnostic, with a rapidly growing market. Current approaches developed by next generation sequencing (NGS) need PCR amplifcation during sample preparation, which results…
Anthony Cutts, Dimitrios V. Vavoulis, Mary Petrou, Frances Smith + 3 more
Non-invasive prenatal testing (NIPT) to date is used in the clinic primarily to detect foetal aneuploidy. Few studies so far have focused on the detection of monogenic autosomal recessive disorders where mother and foetus carry the same mutation. In particular, NIPT is currently not available for the detection of…
Gabriel Minárik, E. Nagyova, Gabriela Repiská, Tomáš Szemes + 2 more
'Barbora Vlková-Izrael' 'Peter Celec'] The risk of false positive results in noninvasive prenatal diagnosis focused on fetal gender and RhD status determination could be a problem in clinical routine. This is because these tests are based on detection of presence of DNA sequences with high population frequency and so…
Authors not listed
Given the dramatic increase in plastic production with a concurrent increase in exposure to plastic-related chemicals, we developed a suspect screening approach to assess prenatal exposure to plastic-related chemicals. Using liquid chromatography-quadrupole time-of-flight tandem mass spectrometry (LC-QTOF/MS), we…
Silvia M. Lobmaier, Alexander Müller, Camilla Zelgert, Chao Shen + 9 more
'Pei-Chun Su' 'Georg Schmidt' 'Bernd Haller' 'Gabriela Berg' 'Bibiana Fabre' 'Joy Weyrich' 'Hau‐Tieng Wu' 'Martin G. Frasch' 'Marta C. Antonelli'] Results: We screened 1500 women enrolling 538 of which 16.5 % showed a PSS-10 score ≥ 19 at 34+0 weeks. Fifty five women eventually comprised the SG and n=55 served as CG.…
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud + 20 more
'Michael H. Duyzend' 'Hayk Barseghyan' 'Bo Yuan' 'Philip M. Boone' 'Emily Groopman' 'Emmanuèle C. Délot' 'Deepti Jain' 'Alba Sanchis‐Juan' 'Genomics Research to Elucidate the Genetics of Rare Diseases' 'Consortium' 'Lea M. Starita' 'Michael E. Talkowski' 'Stephen B. Montgomery' 'Michael J. Bamshad' 'Jessica X. Chong'…