Results 31 to 40 of about 11,570 (268)

Second trimester serum tests for Down's Syndrome screening [PDF]

, 2012
Background Down's syndrome occurs when a person has three copies of chromosome 21 - or the specific area of chromosome 21 implicated in causing Down's syndrome - rather than two. It is the commonest congenital cause of mental retardation.
Alfirevic, Zarko, Alldred, S. Kate, Deeks, Jonathan J., Guo, Boliang, Neilson, James P.   +4 more
core   +1 more source

Uncommon Presentation of Triploidy: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
A 28-year-old woman presented in her first pregnancy was admitted with severe hyperemesis gravidarium. Increased nuchal translucency with cardiac anomaly and omphalocele at the first trimester was observed at the ultrasound examination. Chorionic villus
Işil Uzun, Özlem Pata, Cihat Unlu, Fatma Tokat, Mucize Ozdemir   +4 more
doaj   +1 more source

Enlarged NT (≥3.5 mm) in the first trimester - Not all chromosome aberrations can be detected by NIPT [PDF]

, 2016
__Background:__ Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray ...
Bos, M.J. (Marnix), Diderich, K.E.M. (Karin), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Koningen, M. (Mieke), Looye-Bruinsma, G.A.G. (Gerda), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), Wit, M.C. (Merel) de   +11 more
core   +1 more source

Metabolomics Analysis of Amniotic Fluid in Euploid Foetuses with Thickened Nuchal Translucency by Gas Chromatography-Mass Spectrometry

Life, 2021
Persistence of a fetal thickened nuchal translucency (NT), one of the most sensitive and specific individual markers of fetal disorders, is strongly correlated with the possibility of a genetic syndrome, congenital infections, or other malformations ...
Federica Murgia, Giovanni Monni, Valentina Corda, Aran J. Hendren, Giulia Paci, Alba Piras, Rosa M. Ibba, Luigi Atzori   +7 more
doaj   +1 more source

Intracranial Translucency, Its Use as a Potential First Trimester Ultrasound Marker for Screening of Neural Tube Defects

Diagnostics, 2020
The objective of the study was to describe a case-series of neural tube defects (NTD) with an abnormal intracranial translucency (IT) detected during the first-trimester ultrasound scan, performed on a low-risk obstetric population in Mexico.
Gerardo Sepúlveda-González, Tayde Arroyo-Lemarroy, David Basurto, Ivan Davila, Esteban Lizárraga-Cepeda, Angel Regino Guerra-de la Garza Evia, Andrea Alcázar-Juárez   +6 more
doaj   +1 more source

Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses

Revista Brasileira de Ginecologia e Obstetrícia, 2022
Objective This study aims to describe the behavior of chromosomopathy screenings in euploid fetuses. Methods This is a prospective descriptive study with 566 patients at 11 to 14 weeks of gestation.
Ximena Carolina Romero Infante, Montserrat Uriel, Alejandra Gutiérrez, María Fernanda Hernández, Andres Felipe Hernández, Laura Catalina Jiménez, Jeadran Nevardo Malagón-Rojas, Sara Rincón Franco   +7 more
doaj   +1 more source

CYSTIC HYGROMA AND THE IMPORTANCE OF THE PRENATAL DIAGNOSIS: ABOUT A CASE [PDF]

BAG. Journal of Basic and Applied Genetics, 2020
The cystic hygroma is the malformation of the lymphatic system that is most frequently observed in the prenatal period and is located mainly in the neck and/or the nape of the neck.
Almonacid I., Zuleta P., Neri C., Zannin A., Garzón M., Dorado J., Medina F., Celis L.G.   +7 more
doaj   +1 more source

Automated Techniques for the Interpretation of Fetal Abnormalities: A Review

Applied Bionics and Biomechanics, 2018
Ultrasound (US) image segmentation methods, focusing on techniques developed for fetal biometric parameters and nuchal translucency, are briefly reviewed. Ultrasound medical images can easily identify the fetus using segmentation techniques and calculate
Vidhi Rawat, Alok Jain, Vibhakar Shrimali   +2 more
doaj   +1 more source

Pathophysiology of Increased Fetal Nuchal Translucency Thickness

Taiwanese Journal of Obstetrics & Gynecology, 2010
Increased fetal nuchal translucency thickness is associated with trisomy 13, trisomy 18, trisomy 21, Turner syndrome, other sex chromosome abnormalities, as well as many fetal anomalies and genetic syndromes.
Chih-Ping Chen
doaj   +1 more source

First trimester ultrasound screening of chromosomal abnormalities [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2007
Introduction: A retrocervical subcutaneous collection of fluid at 11-14 weeks of gestation, can be visualized by ultrasound as nuchal translucency (NT). Objective.
Trninić-Pjević Aleksandra, Novakov-Mikić Aleksandra   +1 more
doaj   +1 more source