Frontiers in Genetics, 2019 In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Fan Jin
exaly +3 more sources
Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies [PDF]
Frontiers in GeneticsObjectiveThis study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal ...
Jia-pei Liu +3 more
doaj +2 more sources
Interactive Karyotyping Training [PDF]
Journal of Krishna Institute of Medical Sciences University, 2013 Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities.
Ashwin Kotwaliwale
doaj +2 more sources
A Novel Automated Chromosome Analyzer Software Bundle for Karyotyping and Birth Defect Analysis
IEEE Access, 2023 Karyotyping is a procedure to diagnose birth defects using chromosome pair. During the Karyotyping chromosomes arranged based on the length and each chromosome will be paired based on various parameters such as, chromosome length, banding pattern and ...
Devaraj Somasundaram +3 more
doaj +1 more source
Prenatal diagnosis of fetuses conceived by assisted reproductive technology by karyotyping and chromosomal microarray analysis [PDF]
PeerJ, 2023 Background Invasive prenatal evaluation by chromosomal microarray analysis (CMA) and karyotyping might represent an important option in pregnant women, but limited reports have applied CMA and karyotyping of fetuses conceived by assisted reproductive ...
Huan Guo +7 more
doaj +2 more sources
Incidence and genetic outcome of fetal choroid plexus cyst diagnosed at 18-23 weeks scan: review of case series [PDF]
New Indian Journal of OBGYN, 2019 Objectives: The objective of the study is to determine the incidence, clinical and ultrasound characteristics of choroid plexus cyst diagnosed during the 18 -23 weeks anomaly scan and the genetic outcome in 6 pregnancies that underwent molecular ...
Olufemi Adebari Oloyede
doaj +1 more source
Frontiers in Molecular Biosciences, 2021 Understanding the structure of chromatin in chromosomes during normal and diseased state of cells is still one of the key challenges in structural biology.
Archana Bhartiya +7 more
doaj +1 more source
Umbilical Cyst with Edward Syndrome [PDF]
Indian Journal of Neonatal Medicine and Research, 2016 The advances in Obstetric ultrasonography have allowed early and accurate detection of anomalies in utero. Umbilical cord anomalies may include cysts, vascular anomalies and masses.
Bhavesh Dinesh Rathod +1 more
doaj +1 more source
Highly specific PCR-RFLP assays for karyotyping the widespread 2Rb inversion in malaria vectors of the Anopheles gambiae complex [PDF]
, 2020 Background: Chromosomal inversion polymorphisms play a role in adaptation to heterogeneous environments. Inversion polymorphisms are implicated in the very high ecological flexibility of the three main malaria vector species of the Afrotropical Anopheles
Besansky, N. J. +10 more
core +1 more source
Identification of heterochromatic variations in nonsyndromic cleft lip and palate
Journal of Orofacial Sciences, 2023 Introduction: Orofacial cleft (OFC) has been one of the major common congenital anomalies exhibiting prominent ramifications allied with the medical, social, psychological, and economic strands.
Soumya Raj +5 more
doaj +1 more source