Results 101 to 110 of about 8,134 (208)

Obstetric professionals’ perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications [PDF]

, 2017
Background: While non-invasive prenatal testing (NIPT) for fetal aneuploidy is commercially available in many countries, little is known about how obstetric professionals in non-Western populations perceive the clinical usefulness of NIPT in comparison ...
A Pilnick, A Tabor, American College of Obstetricians and Gynecologists, C Lewis, Daljit Sahota, DS Sahota, FR Grati, GE Palomaki, H Gottfredsdóttir, H Yi, H Yi, Huso Yi, J Brewer, JL Simpson, JYC Lau, KO Kou, M Hill, M Hill, M Vanstone, MA Minear, ME Norton, MM Gil, N Dugo, Olivia Miu Yung Ngan, P Benn, P Benn, P Swaney, R Akolekar, RM Farrell, RM Farrell, RW Chiu, S Chandrasekharan, Samuel Yeung Shan Wong, Shenaz Ahmed, T Hesketh, T Takoudes, TK Lo, TY Leung, V Serra-Sastre, X Zeng, Y Wang, YM Chan, YM Lo   +42 more
core   +3 more sources

Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs

Molecular Cytogenetics, 2023
Objective To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT). Methods The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT.
Yong Xu, Siqi Hu, Liyuan Chen, Ying Hao, Hu Zhang, Zhiyong Xu, Weiqing Wu, Liyanyan Deng   +7 more
doaj   +1 more source

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Prenatal management of disorders of Sex development [PDF]

, 2012
Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues.
Aigrain, Y. (Yves), Chatelain, P. (Pierre), Chitty, L. (Lyn), Wolffenbuttel, K.P. (Katja)   +3 more
core   +3 more sources

Situs Inversus Totalis: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Situs Inversus Totalis (SIT) is a rare congenital anomaly characterized by the complete mirror‐image transposition of the thoracoabdominal viscera. Although typically it has a favorable prognosis, SIT can be associated with ciliopathy‐related disorders, most notably Primary Ciliary Dyskinesia (PCD).
Xin Du, Ning Wang, Juanjuan Sheng, Yunshan Zhang, Jinfang Gao   +4 more
wiley   +1 more source

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 7-22, January 2026.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter, Richard Hastings, Nicola Enoch, Samantha Flynn, Matthew Randell, Chris Stinton   +5 more
wiley   +1 more source

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Clinical Case Reports, 2019
We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation.
Luigia De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile, Raffaella Ruggiero, Pasquale Savarese, Antonio Fico   +6 more
doaj   +1 more source

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li   +5 more
wiley   +1 more source

NIPTmer : rapid k-mer-based software package for detection of fetal aneuploidies [PDF]

, 2018
Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely ...
Brison, Nathalie, Kaplinski, Lauris, Krjutskov, Kaarel, Kurg, Ants, Palta, Priit, Paluoja, Priit, Peters, Maire, Roost, Anne Mari, Salumets, Andres, Sauk, Martin, Teder, Hindrek, Ustav, Eva-Liina, Vermeesch, Joris R., Zilina, Olga   +13 more
core   +3 more sources

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Prenatal 7q11.23 CNVs exhibit 100% ultrasound anomalies in deletions (cardiovascular defects, growth restriction) and 50% in duplications. Inherited CNVs (50% deletions, 43% duplications) correlate with milder outcomes, while de novo variants drive high TOP rates (76.5%), emphasizing genomic testing and parental studies for precise counseling. ABSTRACT
Jiong Yan, Ziyang Liu, Song Yi, Nian Liu
wiley   +1 more source