RESUMEN
Results of cytogenetic and molecular-cytogenetic inspection of 210 matrimonial pairs with the problems of reproduction are presented. Different types of chromosomal aberrations have been detected in the karyotypes of the patients in 46 (10.95%) cases. Such structural chromosomal aberrations as pericentric inversions, Robertsonian translocations, balanced reciprocal translocations, and marker chromosomes as well prevailed the numerical chromosomal aberrations (89.13% and 10.87% cases accordingly). In the general group of the inspected patients there were 19 cases (4.52%) characterized by the low level of X and Y chromosome mosaicism. The authors suppose that the patients with the exposed chromosomal abnormalities need the differentiated approach at their treatment.
Asunto(s)
Aberraciones Cromosómicas , Infertilidad/genética , Adulto , Cromosomas Humanos X/genética , Cromosomas Humanos Y/genética , Femenino , Fertilización In Vitro , Asesoramiento Genético , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Linfocitos/citología , MasculinoRESUMEN
We present the prenatally identified case of mosaicism of chromosome 16 trisomy. A patient with the pregnancy complicated in the first trimester by the threat of breaking was refered to the high risk group according to the results of the screening program. The ultrasonic research revealed a number of phenotypical pathologies in 19-weeks-old fetus such as congenital heart disease (ventricular septal defect), hyperechoic bowel, single umbilical artery and some other ones. Cytogenetical and FISH analyses of the placental villi revealed karyotype with chromosome 16 trisomy. The further research of amniotic fluid cells revealed the karyotype of fetus as mos47,XX,+16 / 46,XX. The pathologoanatomic research of the abortus has verified the multiple congenital malformations.
Asunto(s)
Cromosomas Humanos Par 16/genética , Anomalías Congénitas , Mosaicismo , Diagnóstico Prenatal , Trisomía , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/embriología , Anomalías Congénitas/genética , Femenino , Edad Gestacional , Humanos , Mosaicismo/embriología , Ultrasonografía PrenatalRESUMEN
It is known that the frequency of chromosomal abnormalities among spontaneous miscarriages of the first trimester of pregnancy makes 50-60%. Research of karyotypes of chorionic villus cells of miscarriages has been conducted by combining the standard cytogenetic method and the FISH analysis on interphase nuclei of centromeric specific DNA samples by the tests to the chromosomes 13/21, 14/22, 15, 16, 18, X, Y. The described complex approach can be successfully applied for effective identification ofchromosomal abnormalities in the material of spontaneous miscarriages. The results specify the necessity of careful study of genomes of matrimonial pairs with the usual unmaturing in anamnesis and especially before treatment by IVF methods.
Asunto(s)
Feto Abortado , Aborto Espontáneo/genética , Aberraciones Cromosómicas , Feto Abortado/ultraestructura , Aborto Espontáneo/diagnóstico por imagen , Aborto Espontáneo/patología , Adulto , Aneuploidia , Vellosidades Coriónicas/ultraestructura , Aberraciones Cromosómicas/embriología , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Persona de Mediana Edad , Embarazo , Primer Trimestre del Embarazo , UltrasonografíaRESUMEN
As a result of leadthrough 288 invasive manipulations with the use of cytogenetic and molecular-cytogenetic methods we have found 16 different disorders in the fetus karyotype of the expectant mothers of high risk groups. For the most part the Down syndrome and the Shereshevsky-Therner syndrome were detected among aneuploidies. The maximal amount of anomalous karyotypes (28.6%) was detected at the pregnants with congenital malformations in the fetus. The proofs of the increased frequencies of some chromosome homologue heteromorphisms were got in the group of patients where the so-called "soft markers" of aneuploidies or their combination with biochemical markers were used as supposition for the invasive procedure. The echographic screening proved to be the most informative method among the different approaches to the formation of the groups of the high genetic risk.
Asunto(s)
Biomarcadores/análisis , Biomarcadores/sangre , Trastornos de los Cromosomas , Enfermedades Fetales , Diagnóstico Prenatal/métodos , Amniocentesis , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/diagnóstico por imagen , Trastornos de los Cromosomas/embriología , Análisis Citogenético , Femenino , Enfermedades Fetales/sangre , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/genética , Edad Gestacional , Humanos , Embarazo , Ultrasonografía PrenatalRESUMEN
Results of cytogenetic research of placental villi and amniotic fluid cells culture of the 22-weeks-old fetus with multiple congenital malformations (MCM) are presented. The absence of the short arm in one of the homologue of the chromosome 21 was revealed. Cytogenetic analysis of the fetus father's blood lymphocytes determined the similar chromosome. Further research of the father's karyotype made by FISH-method using specific DNA samples had discovered the absence of subtelomeric parts in the short arm of the chromosome 21 that might be considered as a deletion. It was suggested that the effect of position and interaction of genes could play a key role in appearing of MCM in the fetus in the case when the 21p-chromosome was transferred to it from the healthy parents.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 21/genética , Ultrasonografía Prenatal , Anomalías Múltiples/diagnóstico por imagen , Adulto , Amniocentesis , Líquido Amniótico/citología , Bandeo Cromosómico , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , EmbarazoRESUMEN
We collected data on 39 prenatally diagnosed osteochondrodysplasias. We detected 30 (76.9%) cases in the first and second trimesters, including 18 (46.2%) with two twins before the 24th week of gestation. Of 39 cases 11 (28.2%) had osteogenesis imperfecta (OI) type II. Verification of the prenatal diagnosis was attempted in 26 cases on the basis of the data obtained from ultrasonographs, radiographs, external examination, and autopsy protocols. The prenatal diagnosis was confirmed in 19 (73%) fetuses. In 13 cases verification was not possible because one or several investigations could not be performed. Counselling followed all identified cases with osteochondrodysplasia. We present the pedigree of two families indicating the possibility of early prenatal diagnosis of achondrogenesis type I and metatropic dysplasia. We propose indications for ultrasonographic anatomical screening with subsequent phenotype analysis in high risk pregnancy to provide for the prenatal detection of malformations and hereditary diseases.
Asunto(s)
Osteocondrodisplasias/diagnóstico por imagen , Complicaciones del Embarazo , Ultrasonografía Prenatal , Autopsia , Consanguinidad , Enfermedades en Gemelos , Familia , Femenino , Asesoramiento Genético , Humanos , Recién Nacido , Masculino , Osteocondrodisplasias/epidemiología , Osteocondrodisplasias/genética , Osteogénesis Imperfecta/diagnóstico por imagen , Osteogénesis Imperfecta/epidemiología , Linaje , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Reproducibilidad de los Resultados , Factores de RiesgoRESUMEN
The experience of investigation of 230 chorion and placental biopsy in 209 women of high risk pregnancy group is presented. Two methods of "direct" chromosomal analysis have been compared. Prospects and high economic efficiency of chorion and placenta studies as against other methods of prenatal diagnosis, great role in a decrease of prenatal disease and mortality are confirmed.