Results 41 to 50 of about 147,199 (219)

A comparison of attitudes towards prenatal diagnosis and pre-implantation genetic diagnosis [PDF]

, 2010
Technological advances in prenatal screening and diagnosis mean that it is now possible to test for a wide range of congenital conditions (Hewison et al., 2007).
Miller, Chloe Louise
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Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe. [PDF]

, 2001
Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate
Stoll, C., Garne, E., Clementi, M.
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Copy number variations associated with fetal congenital kidney malformations

Molecular Cytogenetics, 2020
Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe.
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu   +9 more
doaj   +1 more source

Nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization cycles

BMC Pregnancy and Childbirth, 2023
Background The aim of this study was to develop a nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization (IVF) cycles.
Mohan Wang, Mengzhe Hao, Ning Liu, Xiao Yang, Yubin Lu, Ruizhi Liu, Hongguo Zhang   +6 more
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Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies : A Q methodological study [PDF]

Objective To study pregnant women's subjective viewpoints on what is important when receiving information prior to decision-making regarding prenatal testing for chromosomal anomalies. Method Data were collected using Q methodology.
Ternby, Ellen, Ingvoldstad Malmgren, Charlotta, Malmgren, CI, Axelsson, Ove, Georgsson, S, Axelsson, Ove,, Georgsson, Susanne,, Axelsson, O, Ternby, Ellen,, Ternby, E, Georgsson, Susanne, Ingvoldstad Malmgren, Charlotta,   +11 more
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Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings [PDF]

, 2005
We report on the prenatal diagnosis and ultrasonographic findings of a second-trimester fetus with jumping translocation involving chromosome 22. A 28-year-old gravida 2, partus 1, Turkish woman was referred for genetic counselling and ultrasonographic ...
Yıldırım, Gökhan, Karaman, Birsen, Ceylan, Yavuz, Aslan, Halil   +3 more
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Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Basic and Clinical Neuroscience, 2020
Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and ...
Mina Zamani, Tahereh Seifi, Jawaher Zeighami, Neda Mazaheri, Emad Jahangirnezhad, Minoo Gholamzadeh, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari   +8 more
doaj  

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
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Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience [PDF]

, 2019
What's already known? Prenatal diagnosis of lysosomal storage diseases is important to avoid high morbidity and mortality. What does this study add? Enzyme analysis may be alone used safely for the prenatal diagnosis of lysosomal storage disases.
Canan Unal, Ayse Nur Cakar, Fadıloğlu, Erdem, Erdem Fadiloglu, Incilay Lay, Cakar, Ayse Nur, Hatice Asuman Ozkara, TANAÇAN, ATAKAN, ÜNAL, CANAN, Mehmet Sinan Beksac, Meral Topçu, ÖZKARA, HATİCE ASUMAN, FADILOĞLU, ERDEM, Atakan Tanacan, LAY, İNCİLAY, BEKSAÇ, MEHMET SİNAN, TOPÇU, MERAL   +16 more
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Prenatal Prediction of Spinal Muscular Atrophy in Chinese [PDF]

, 2012
[[abstract]]We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA).
Lin, Shuan-Pei; Chang, Jan-Gowth; Jong, Yuh-Jyh; Yang, Tzu-Yao; Tsai, Chang-Hai; Wang, Nancy M. ; Li, Hung ; Hsieh-Li, Hsieh-Mei; Hu, Cheur-Jong
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