An overview of a 30-year experience with amniocentesis in a single tertiary medical center in Taiwan
Objective: Amniocentesis is a popular and effective prenatal diagnostic tool for chromosomal disorders. It is well-established that the risk of chromosomal abnormalities increases with maternal age; however, other related indications are seldom reported.
Yi-Wen Chang +12 more
doaj +1 more source
Chromosomal analysis of 262 miscarried conceptuses: a retrospective study
Background Embryonic chromosomal abnormality is one of the significant causative factors of pregnancy loss. Our goal was to investigate the differences of chromosomal abnormality between different conception modes in miscarried products of conception ...
Juan Gui +5 more
doaj +1 more source
The use of an e-learning constructivist solution in workplace learning [PDF]
We wished to investigate whether an e-learning approach which uses constructivist principles can be successfully applied to train employees in a highly specialised skill thought to require expert individuals and extensive prolonged training. The approach
A. Mileham +42 more
core +1 more source
Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann +4 more
core +1 more source
Dynamic clonal progression in xenografts of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 [PDF]
Intrachromosomal amplification of chromosome 21 is a heterogeneous chromosomal rearrangement occurring in 2% of childhood precursor B-cell acute lymphoblastic leukemia.
Bashton, Matthew +18 more
core +3 more sources
Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells
Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi +2 more
doaj +1 more source
Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report
INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural chromosomal abnormality is an important cause.
N. Dukuze +7 more
doaj +2 more sources
A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American [PDF]
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare, progressive, neurodegenerative disease characterized by ataxia, spasticity and polyneuropathy.
Dougherty, Sean C. +4 more
core +2 more sources
A Chromosomal Inversion of 46XX, inv (6) (p21.3p23) Connects to Congenital Heart Defects
Congenital heart defects (CHDs) represent the most common human birth defects. Ventricular septal defect (VSD) is the most common subtype of CHDs. It has been shown that about 20–40% of VSDs are closely related to chromosomal aneuploidies or Mendelian ...
Liangping Cheng +12 more
doaj +1 more source
Hailong Huang,1,* Meiying Cai,1,* Linyu Liu,1,2 Liangpu Xu,1 Na Lin1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian ...
Huang H, Cai M, Liu L, Xu L, Lin N
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