Aim of the study: To Evaluate usefulness and reliability cell free DNA as a screening method to identify mothers at risk fetus with trisomy 21, 18, 13, sex chromosomal anomalies other abnormalities.Method: This is prospective observational study conducted Chalmeda Anand Rao Institute Medical Sciences, Karimnagar from period October 2020 2022. Patients were included least one atypical biochemica...

Fibroblasts from a patient with ICF syndrome were grown in the presence of excess of nucleotides, in media with different amounts of folic acid, and with caffeine in an attempt to induce the chromosomal anomalies observed in lymphocytes. We induced despiralisation and breakages in the centromeric heterochromatin of chromosomes 1 and 16 but not associations and multibranching. We suggest that th...

Objective: The aim of this study was to compare the frequency of chromosomal translocations in postnatal and prenatal cases in a single laboratory in China, and to investigate the rates and indications of chromosomal translocations in postnatal diagnosis and prenatal diagnosis. Study design: 17,991 postnatal cases with reproductive failure or congenital anomalies and 4198 prenatal cases with in...

OBJECTIVE To investigate the incidence of associated anomalies, aneuploidy, cyst progression, need for surgery and neurodevelopmental outcome in fetuses with extra-axial supratentorial intracranial cysts. DATA SOURCES Medline, Embase and CINAHL databases were searched and the following outcomes analyzed: associated central nervous system (CNS) and extra-CNS anomalies detected at the scan, chr...

OBJECTIVE To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). DESIGN Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 ...

Objective: To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). Design: Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 ...

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

Background: Tobacco use has toxic effects on different organs. This study was carried out to assess the effect of indigenous tobacco both in smoking (bidi) and smokeless (gutkha, zarda and khaini) forms on buccal cells at chromosomal level, through assessment of different nuclear anomalies as biomarker. Methods:This study was done on people living in Durgapur and its adjacent areas, West Bengal...

BACKGROUND In patients with hereditary or constitutional chromosomal anomalies, testicular carcinoma can develop sporadically or on the basis of an underlying hereditary genetic defect. Greater knowledge of these genetic defects would provide more insight into the molecular pathways that lead to testicular carcinoma. To the authors' knowledge, little attention has been paid to date to the comor...