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We present prenatal diagnosis of a familial 5p14.3-p14.1 deletion in a fetus with congenital heart disease on prenatal ultrasound.
This article was published in the following journal.
Name: Taiwanese journal of obstetrics & gynecology
We present prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound.
Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound.
We present prenatal diagnosis of a 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction (IUG...
CDH18 (cadherin 18) is specifically expressed in the central nervous system and associated with various neuropsychiatric disorders. In this study, the role of CDH18 in glioma carcinogenesis and progre...
To examine the state-wide utilization of prenatal diagnosis (PNDx) and preimplantation genetic diagnosis (PGT-M) for single gene disorders.
To investigate the experiences of couples who underwent prenatal WES for fetal anomalies and the amount/type of information couples want from prenatal WES.
The purprose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat disesases by isolated circulating fetal trophoblastic cells (CFTC) analysis fr...
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Ariosa Test) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
Prenatal diagnosis of coarctation is difficult because the ductus arteriosus masks the isthmus narrowing. The problem lies in the fact that it is difficult to assert in utero diagnosis and...
To establish a genotyping and extraction technology of non invasive prenatal diagnosis for fetal blood group genotype from cell-free fetal DNA in peripheral blood of pregnant women. To ac...
This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study c...
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth.
Deletion of sequences of nucleic acids from the genetic material of an individual.
A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.
Care provided the pregnant woman in order to prevent complications, and decrease the incidence of maternal and prenatal mortality.
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...
Radiology is the branch of medicine that studies imaging of the body; X-ray (basic, angiography, barium swallows), ultrasound, MRI, CT and PET. These imaging techniques can be used to diagnose, but also to treat a range of conditions, by allowing visuali...