Results 11 to 20 of about 3,897,220 (150)

Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y

Molecular Cytogenetics, 2022
Background The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular ...
Yiqun He, Li Guo, Laiping Zheng, Congmian Ren, Ting Wang, Jian Lu   +5 more
doaj   +1 more source

Maternal and Fetal Outcomes in Women with Diabetes in Pregnancy Treated before and after the Introduction of a Standardized Multidisciplinary Management Protocol

Journal of Diabetes Research, 2021
Background. Diabetes in pregnancy is associated with an increased risk to the woman and to the developing fetus. Currently, there is no consensus on the optimal management strategies for the follow-up and the timing of delivery of pregnancies affected by
Maddalena Morlando, Fabiana Savoia, Anna Conte, Antonio Schiattarella, Marco La Verde, Michela Petrizzo, Mauro Carpentieri, Carlo Capristo, Katherine Esposito, Nicola Colacurci   +9 more
doaj   +1 more source

De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation

Molecular Cytogenetics, 2021
Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai, Ran Meng   +5 more
doaj   +1 more source

Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies

Molecular Cytogenetics, 2018
Background Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but there is still relatively little ...
Jiexia Yang, Yiming Qi, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, O. Y. Haoxin, Yixia Wang, Huajie Huang, Aihua Yin   +9 more
doaj   +1 more source

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports

Molecular Cytogenetics, 2020
Background Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology.
Yiming Qi, Jiexia Yang, Yaping Hou, Rong Hu, Dongmei Wang, Haishan Peng, Aihua Yin   +6 more
doaj   +1 more source

Sonographic evaluation of fetal scrotum, testes and epididymis [PDF]

Obstetrics & Gynecology Science, 2021
External male genitalia have rarely been evaluated on fetal ultrasound. Apart from visualization of the penis for fetal sex determination, there are no specific instructions or recommendations from scientific societies.
Álvaro López Soto, Jose Luis Meseguer González, María Velasco Martínez, Rocío López Pérez, Inmaculada Martínez Rivero, Mónica Lorente Fernández, Olivia García Izquierdo, Juan Pedro Martínez Cendán   +7 more
doaj   +1 more source

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Human Genomics, 2019
Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between ...
Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du, Aihua Yin   +7 more
doaj   +1 more source

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study

BMJ Open, 2019
Objectives To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality.
M. Bakker, J. Bergman, S. Krikov, E. Amar, G. Cocchi, J. Cragan, H. D. de Walle, M. Gatt, B. Groisman, Shiliang Liu, W. Nembhard, A. Pierini, A. Rissmann, Shanthi Chidambarathanu, Antonin Sipek Jr, E. Szabová, G. Tagliabue, D. Tucker, P. Mastroiacovo, L. Botto   +19 more
semanticscholar   +1 more source

A case of placental trisomy 18 mosaicism causing a false negative NIPT result

Molecular Cytogenetics, 2017
Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a ...
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY, Aihua Yin   +7 more
doaj   +1 more source

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

BMC Cardiovascular Disorders, 2020
Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen, Huizhen Yuan, Kang Xie, Xinrong Wang, Linglong Tan, Yongyi Zou, Yan Yang, Lu Pan, Junfang Xiao, Ge Chen, Yanqiu Liu   +10 more
doaj   +1 more source