Results 51 to 60 of about 2,435,290 (202)

A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR

Molecular Cytogenetics
Objective To report a rare prenatal case of paternal uniparental isodisomy of chromosome 3 (upd(3)pat) associated with isolated intrauterine growth restriction (IUGR).
Fang Zhang, ShanShan Ma, Yongan Wang, Shuai Men, Rong Zhang, Ting Yin   +5 more
doaj   +1 more source

Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion: Pre- and postnatal diagnosis

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases.
Qiao-Fang Hou, Dong Wu, Yan Chu, Shi-Xiu Liao   +3 more
doaj   +1 more source

Prenatal diagnosis and long term follow up of a patient with mosaic variegated aneuploidy and its molecular analysis

, 2018
Objectives: Mosaic variegated aneuploidy (MVA) is a recessive condition characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple chromosomes and tissues.
Leung, WC, Luk, HM, Lin, SM, Tang, MHY, Chan, KYK, Tse, HY, Kan, SYA, Tam, WK   +7 more
core  

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review

Molecular Cytogenetics, 2019
Background 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular ...
Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Prenatal Diagnosis of Disease

Journal of the Royal College of Physicians of London, 1980
We are still in the early days as far as antenatal diagnosis of fetal disease and abnormality are concerned. All of the techniques show a high degree of accuracy if used in the correct circumstances but, apart from the use of maternal blood to assess the Rhesus status and screen for neural tube defects and amniocentesis to search for age-dependent ...
openaire   +2 more sources

Experiences of Informational Needs and Received Information Following a Prenatal Diagnosis of Congenital Heart Defect

, 2016
OBJECTIVE: To explore the need for information and what information was actually received following a prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not clinically performed ...
Bergman, Gunnar, Mattsson, Elisabet, Wadensten, Barbro, Wadensten, Barbro,, Carlsson, T, Mattsson, Elisabet,, Bergman, G,, Wadensten, B, Carlsson, Tommy, Bergman, Gunnar,, Carlsson, Tommy,, Mattsson, E   +11 more
core   +1 more source

Clinical application value of preconception and prenatal carrier screening in Yinchuan

Frontiers in Genetics
ObjectiveTo explore the clinical application value of Expanded Carrier Screening (ECS) in preconception and prenatal populations in Yinchuan.MethodsA total of 1,319 participants underwent ECS, including 1,063 females receiving preconception or prenatal ...
Hua Han, Xiaoyan Zhu, Lifen Chai, Yingchun Ha, Fuying Zhao, Lihua Pan   +5 more
doaj   +1 more source

The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]

, 2014
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman, Boardman, Felicity Kate, Boardman, Felicity K.   +2 more
core   +1 more source

Prenatal diagnosis and postnatal follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia [PDF]

, 2013
The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult.
Celik, I., Hallioglu, O., Kibar, Ayse E., Erdem, Sukru   +3 more
core  

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

, 1992
We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this
Moore, C. M., Campbell, L., Robert W. Huff, Huff, R. W., Larry J. Shapiro, Bick, D. P., Price, P. A., David P. Bick, Shapiro, L. J., Leslie Campbell, Daniel F. Schorderet, Paul A. Price, Charleen M. Moore, Schorderet, D. F.   +13 more
core   +1 more source