Results 81 to 90 of about 2,707,119 (197)

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

Journal of Clinical Laboratory Analysis, Volume 40, Issue 10, May 2026.
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou, Ting Chen, Ying Huang, Huali Wang, Dahai He, Feng Wu, Yan Zhang, Lirui Kong   +7 more
wiley   +1 more source

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Human Genomics, 2019
Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between ...
Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du, Aihua Yin   +7 more
doaj   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, Volume 109, Issue 5, Page 869-875, May 2026.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
wiley   +1 more source

Clinical applications and advancements in noninvasive prenatal diagnosis [PDF]

Kosin Medical Journal
Noninvasive prenatal testing (NIPT) is widely performed and enables the detection of fetal chromosomal abnormalities through the analysis of cell-free fetal DNA in maternal blood. Since its introduction in 2011, NIPT has demonstrated high sensitivity and
Sul Lee, Jin Hyuk Choi, Jong Hyouk Yun, Su Hwan Kang, Jesang Yu, Jihun Kang, Chang Zoo Kim, Taek Yong Ko, Hanggoo Yun   +8 more
doaj   +1 more source

Blood Speckle Imaging as a Novel Adjunct in the Prenatal Assessment of Congenital Heart Disease: Insights From Aortic Arch Pathology and Septal Defects

Clinical Case Reports, Volume 14, Issue 4, April 2026.
Blood Speckle Imaging (BSI) is an innovative fetal echocardiography technique that enables the acquisition of high frame rate images and tracks moving blood cells. In a case initially suspected of interrupted aortic arch, BSI provided crucial additional insights, leading to a revised diagnosis.
Sarah van den Wildenberg, Andrea Stoop‐Berends, Ingrid M. van Beynum, Bas R. Rebel, Attie T. J. I. Go, Eric A. P. Steegers, Jérôme M. J. Cornette   +6 more
wiley   +1 more source

Noninvasive prenatal testing: an overview

Australian health authorities recommend offering prenatal screening for fetal chromosome conditions, also known as aneuploidies (e.g. Down syndrome [trisomy 21]), to all pregnant individuals to support informed decision-making.
Hui, L, Poulton, A
core   +1 more source

Noninvasive prenatal testing of chromosomal aneuploidies

, 2014
Neinvazivno prenatalno testiranje (NIPT) na kromosomopatije, kojim se analizira slobodni DNK iz majčine krvi, veliki je pomak u prenatalnoj skrbi. Kliničke studije pokazale su visoku pouzdanost NIPT-a za Downov i Edwardsov sindrom te u nešto manjoj mjeri
Radončić, Erden, Barbalić, Maja
core   +1 more source

A cost-effectiveness analysis comparing different strategies to implement noninvasive prenatal testing into a Down syndrome screening program

, 2014
Background Currently, noninvasive prenatal testing (NIPT) is only recommended in high-risk women following conventional Down syndrome (DS) screening, and it has not yet been included in the Australian DS screening program.
Ayres, Alice, Ayres, AC, Whitty, Jennifer, Ellwood, David A., Ellwood, David, Whitty, JA, Ellwood, David A, Ayres, Alice C, Ayres, Alice C., Whitty, Jennifer A., Ellwood, DA, Whitty, Jennifer A, Whitty Jennifer A.   +12 more
core   +1 more source

Preferences of pregnant women and obstetric healthcare professionals on using noninvasive prenatal testing to predict adverse pregnancy outcomes: a discrete choice experiment

BMJ Open
Objectives Noninvasive prenatal testing (NIPT) to screen for fetal aneuploidies by analysing cell-free DNA in maternal plasma is available to pregnant women worldwide.
Mireille N Bekker, Ewoud Schuit, Ian Smith, Ellis Becking, Elisabeth Akkerman, Peter Scheffer, Daphne Stemkens, Caroline J Bax, Neeltje Crombag, Lidewij Henneman   +9 more
doaj   +1 more source