Results 61 to 70 of about 17,532 (272)

A review of evidence on non-invasive prenatal diagnosis (NIPD) : tests for fetal RHD genotype [PDF]

, 2007
This report concentrates on three main areas. First and foremost, we set the background context for RhD NIPD in prenatal care. While the methodology chapter describes how the literature review was carried out and how additional information was collected,
Clay, Diane, Hyde, Julia, Szczepura, Ala, Osipenko, Leeza, HASH(0x55a67fc1f4e0), Freeman, Karoline   +5 more
core  

Cases of tetrasomy 9p and trisomy 9p in prenatal diagnosis—Analysis of noninvasive and invasive test results

Frontiers in Genetics, 2022
Objective: Tetrasomy 9p and trisomy 9p are rare chromosomal aberrations. The phenotypes of tetrasomy 9p and trisomy 9p are variable. Most cases are diagnosed in the postnatal period.
Hanna Moczulska, Michal Pietrusinski, Karolina Zezawska, Marcin Serafin, Beata Skoczylas, Tomasz Jachymski, Katarzyna Wojda, Piotr Sieroszewski, Maciej Borowiec   +8 more
doaj   +1 more source

Non-invasive prenatal screening: experience in the Republic of Tyva

Pediatrician (St. Petersburg), 2020
Diagnosis of congenital developmental anomalies and chromosomal abnormalities of the intrauterine fetus in early pregnancy can reduce infant mortality rates.The purpose of research:to evaluate the first results of the non-invasive prenatal test (NIPT) in the Republic of Tyva.Materials and methods.A retrospective analysis of the reports of the Federal ...
Vera L. Gritsinskaya, Natalya O. Sanchat, Mochurga S. Badarchy   +2 more
openaire   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies

, 2023
Non-invasive prenatal testing (NIPT) has been widely adopted as an approach for foetal aneuploidy screening. This study was to evaluate the performance of NIPT for foetal T21 detection in subgroups of pregnancies and the correlation between Z-score and ...
Yawen Wang (1578763), Jingjing Wang (140791), Chu Zhang (626017), Na Wang (193263), Mingming Liao (17592278), Feng Suo (17592275), Chuanxia Wang (6398477), Yan Zhang (8098), Maosheng Gu (6398480), Yi Wang (32470), Lingshan Gou (9321116), Man Zhang (466843)   +11 more
core   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Non-Invasive Prenatal Testing (NIPT): A Paradigm Shift in Prenatal Care

International Journal of Preventive Medicine
Prenatal screening has undergone a profound transformation with the emergence of Non-Invasive Prenatal Testing (NIPT), a technology that analyzes cell-free fetal DNA (cffDNA) in maternal blood to detect common chromosomal abnormalities.
Ram K. Garg, Yogesh Kumar, Ram Niwas, Jitendra Singh   +3 more
doaj   +1 more source

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations [PDF]

European Journal of Human Genetics, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Dondorp, Wybo, de Wert, Guido, Bombard, Yvonne, Bianchi, Diana W., Bergmann, Carsten, Borry, Pascal, Chitty, Lyn S., Fellmann, Florence, Forzano, Francesca, Hall, Alison, Henneman, Lidewij, Howard, Heidi C., Lucassen, Anneke, Ormond, Kelly, Peterlin, Borut, Radojkovic, Dragica, Rogowski, Wolf, Soller, Maria, Tibben, Aad, Tranebjærg, Lisbeth, van El, Carla G., Cornel, Martina C.   +21 more
openaire   +6 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results

Russian Open Medical Journal, 2021
The objective — To assess the effectiveness of including NIPT in the structure of prenatal diagnostics in Moscow. Material and Methods — Totally 5,181 pregnancies undergoing screening for fetal trisomy using NIPT during the period from 01.04.2020 to 30 ...
Anton S. Olenev, Elena E. Baranova, Olesya V. Sagaydak, Alexandra M. Galaktionova, Ekaterina S. Kuznetsova, Madina T. Kaplanova, Maxim S. Belenikin, Ekaterina N. Songolova   +7 more
doaj   +1 more source