Biomaterial Database

[Prenatal cytogenetic diagnosis of trisomy 21 using amniotic fluid cells]. 1994

A Ondrusseková, and I Kalina, and S Lukacín, and B Fialová, and M Herman

Ustav lekárskej biológie LF UPJS v Kosiciach, Slovakia.

BACKGROUND Trisomy 21 is the most frequent chromosomal disorder which is associated with advanced maternal age. OBJECTIVE The aim of our work was to examine the risk of trisomy 21 occurrence in a group of pregnant women subdued to prenatal cytogenetic examination. METHODS The examined group consisted of 1128 pregnant women. The cells for cytogenetic analysis were obtained by means of transabdominal amniocentesis during the second trimester of pregnancy. Cultivation of amniocytes lasted 15-20 days. The chromosomes were stained by a conventional and G-striping method. RESULTS Cytogenetic analyses have indicated that the aberrant karyotype was present in 32 (2.82%) out of 1128 fetuses. In addition the results have confirmed that trisomy represented the most frequent chromosomal aberration (60%) detected by means of prenatal cytogenetic diagnostic examinations and the risk of its incidence increased exponentially in women who were older than 35 years of age. CONCLUSIONS The prenatal cytogenetic diagnosis represents a significant role in the prevention of hereditary conditioned chromosomal disorders. (Tab. 1, Fig. 1, Ref, 13.)

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D003582	Cytogenetics	A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.	Cytogenetic
D004314	Down Syndrome	A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)	Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260	Female		Females
D005315	Fetal Diseases	Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.	Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000649	Amniocentesis	Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions.	Amniocenteses