Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype

Abnormal Karyotype Findings in Bone Marrow and Lymph Node Aspirates of a Patient with Malignant Lymphoma.

ECENT ADVANCES in cytogenetics have permitted accurate chromosome analysis of some human neoplastic cells, particularly in patients with leukemia.16 A characteristic abnormal chromosome ( Ph’ ) occurs in the leukemic cells of the majority of patients with chronic myelocytic lenkemia.712 The neoplastic cells of patients with other forms of leukemia and cancer have not shown consistent qualitativ...

[Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis].

NIFTY (Non-invasive Fetal Trisomy Test) is a non-invasive prenatal test which is used for diagnosing fetal trisomy. The test is based on the analysis of cell free fetal DNA (cffDNA) present in the plasma and serum of a pregnant woman. NIFTY allows to detect fetal trisomy of chromosomes 13, 18, 21, X and Y and also X monosomy. Abnormal NIFTY results still need to be verified using other diagnost...

Acute transformation of a myeloproliferative state in sideroblastic anaemia with abnormal karyotype.

Patient with syndromic cleft lip-palate, mosaic karyotype and cytogenetically abnormal brother

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių 2, LT-08661 Vilnius, Lithuania Objective. Cleft lip with or without cleft palate (CLP) is a common congenital abnormality involving genetic and non-genetic factors in its etiology. Although many studies have been made to find the genetic pattern of this malformation, there is still no precise answer. ...

Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women

INTRODUCTION The aim of this study was to evaluate the value of absent fetal nasal bone in the prediction of fetal chromosomal abnormalities, according to whether it was associated with other soft markers or structural abnormalities in a prescreened population of Chinese pregnant women. MATERIAL AND METHODS In this retrospective cohort study, women whose fetuses had absent nasal bone detected...