Results 41 to 50 of about 2,588,889 (202)

Prenatal diagnosis for paediatricians [PDF]

Paediatrics & Child Health, 2003
In Ontario, approximately 140,000 women deliver newborn infants each year. Of these women, 60,000 to 70,000 have multiple marker screening, 10,000 undergo amniocentesis or chorion villus sampling and virtually all have at least one prenatal ultrasound.
openaire   +2 more sources

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

BMC Medical Genomics, 2021
Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown.
Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu, Hailong Huang   +6 more
doaj   +1 more source

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
doaj   +1 more source

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

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience

, 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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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
doaj   +1 more source

Prenatal Diagnosis of Iniencephaly

Taiwanese Journal of Obstetrics and Gynecology, 2007
Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked ...
openaire   +3 more sources

The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes

, 2019
Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition ...
Raquel Garcia Delgado, Novoa Medina, Yeray, López Siles, Juan, Palma Milla, Carmen, Carmen Palma Milla, Juan Lopez Siles, Raquel Garcia Rodriguez, Julio Perez Gonzalez, Alfredo Santana Rodriguez, Medina Castellano, Margarita, Santana Rodríguez, Alfredo, García Hernandez, José Angel, Jose Angel Garcia Hernandez, García Delgado, Raquel, García Rodríguez, Raquel, Pérez Gonzalez, Julio, Loida Garcia Cruz, Yeray Novoa Medina, Margarita Medina Castellano, García Cruz, Loida   +19 more
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Fetal lung lesions diagnosis: the crucial role of ultrasonography [PDF]

, 2009
Fetal lung lesions may cause significant effects of mass and may evolve into a non-immune hydrops and lead to the death of the fetus or the child. Treatment options for these severely affected infants are constantly evolving.
Maiello, Monica, Dinatale, Angela, Palermo, Mariarosaria, Carrara, Sabina, Esposito, Nunzia, Pedata, Rosa, Cavaliere, Alessandra, Ermito, Santina   +7 more
core   +1 more source