Results 11 to 20 of about 4,949 (165)

Noninvasive Prenatal Testing Test Versus Chorionic Villus Sampling, Where Are We Now? [PDF]

Maternal-Fetal Medicine
Huijing Zhang, Branko Denona, Yang Pan, Jue Li   +3 more
doaj   +2 more sources

Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series

International Journal of Reproductive BioMedicine, 2022
Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth.
Maryam Hassanlou, Maryam Abiri, Sirous Zeinali   +2 more
doaj   +1 more source

Examination and Sampling of Chorionic Villi for the Diagnosis of Beta-Thalassemia Major in the First Trimester of Pregnancy in Southwestern Iran [PDF]

Armaghane Danesh Bimonthly Journal, 2023
Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system.
E Shams, M AllahDadian, Z Yadegari Baharanchi, M Harfsheno   +3 more
doaj  

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

Frontiers in Genetics, 2022
A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases.
Pascale Kleinfinger, Marie Brechard, Armelle Luscan, Detlef Trost, Aicha Boughalem, Mylene Valduga, Stéphane Serero DR, Jean-Marc Costa, Laurence Lohmann   +8 more
doaj   +1 more source

Chorionic Villi Sampling among Early and Late Gestational Age: Does Timing Affect Yield and Outcomes? [PDF]

American Journal of Perinatology Reports
Julia Kim, Amberly Lao, Annie Rozenblyum, Lamia Alamri, Abigail Ludwigson, Teresa Dunn, Andrei Rebarber, Jennifer Lam-Rachlin, Manesha Putra, Martin Chavez, Patricia Rekawek, Lakha Prasannan   +11 more
doaj   +2 more sources

Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities

Gynecology Obstetrics & Reproductive Medicine, 2022
Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis).
Abhijeet Kumar, Madhusudan Dey, Devendra Arora   +2 more
doaj   +1 more source

Correlation Between Transabdominal Chorionic Villus Sampling and Fetal Distress With Color Doppler Sonography

Acta Medica Iranica, 2020
Chorionic villus sampling (CVS) is an invasive method for identifying genetic and metabolic diseases, which is done in the first trimester of pregnancy and can cause many complications.
Nazanin Farshchian, Mozhdeh Hajsafarali, Negin Farshchian, Parisa Bahrami Kamangar   +3 more
doaj   +1 more source

Confined placental mosaicism of Duchenne muscular dystrophy: a case report

Molecular Cytogenetics, 2020
Background Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance.
Max Winerdal, Eini Westenius, Michaela Granfors, Maria Pettersson, Erik Iwarsson   +4 more
doaj   +1 more source

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

Frontiers in Genetics, 2023
Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters ...
Lingping Li, Lingping Li, Lingping Li, Xijing Liu, Xijing Liu, Xijing Liu, Qinqin Li, Qinqin Li, Qinqin Li, Lili Zhang, Lili Zhang, Lili Zhang, Yueyue Xiong, Yueyue Xiong, Yueyue Xiong, Shanling Liu, Shanling Liu, Shanling Liu, He Wang, He Wang, He Wang, Hongmei Zhu, Hongmei Zhu, Hongmei Zhu, Xuemei Zhang, Xuemei Zhang, Xuemei Zhang   +26 more
doaj   +1 more source

Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report

Molecular Cytogenetics, 2021
Background Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells.
Eini Westenius, Maria Pettersson, Erik Björck   +2 more
doaj   +1 more source