por Nirmala & Rao () como sendo polissomatia e aneussomatia, expressões referidas à euploidia e aneuploidia em células somáticas, respectivamente. 14 set. Vinte amostras foram selecionadas para detecção de aneuploidias .. aneuploidia em 67% dos seus casos de aborto e euploidia em 23%. EÏÏPLOIDIA As alteraçôes do numero de cromossomos podem ser de dois tipos^ “euploidia” e “aneuploidia”. Euploidia consiste na variaçâo numerica de todo o.

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Cytogenetic and molecular evaluation of spontaneous abortion samples. Em todos os casos submetidos a mais de um exame os resultados foram concordantes. Forty of these cases were also submitted to fetal sex determination using nested-PCR. Thirty-two of these cases were selected due to failed cytogenetic culture and the other eight were selected randomly.

Thirteen of these samples were selected aneupoidia to failed cytogenetic culture and the other seven were randomly selected. The results of samples submitted to more than one test were evaluated for accuracy, using the cytogenetic result as the gold standard.

In all cases submitted to more than one test, the results were identical to those obtained through cytogenetic analysis. Samples that failed to grow on cytogenetic test and that were euploidi to other techniques of molecular biology had a success rate of Molecular biology techniques PCR and FISH complemented the cytogenetic study and proved to be reliable in the detection of numerical chromosomal anomalies and in fetal sex determination.


Todos os 40 casos submetidos ao estudo complementar eram de alto risco, apresentando pelo menos um dos seguintes: Enquanto estes autores realizaram 25 ciclos na primeira etapa e 30 ciclos na segunda etapa da PCR, no presente estudo foram utilizados 35 ciclos e 40 ciclos.

Na segunda etapa foram utilizados os primers 3 e 4 15 do pseudogene da amelogenina localizado no cromossomo Y AMGY. Outro fator relevante seria a idade das pacientes. Chromosomal variation in man: Clinical significance of morphologic and genetic examination of spontaneously aborted embryos. Am J Reprod Immunol.

Intra and inter-observer variation in the interpretation of histological features suggesting chromosomal abnormality in early abortion specimens. Efficient direct chromosome analysis and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.

Anatomic and chromosome anomalies in specimens of early spontaneous abortions: Birth Defects Orig Artic Ser. Chromosome abnormalities in the placenta and spontaneous abortions.

J Matern Fetal Med. Goddijn M, Leschot NJ. Genetic aspects of miscarriage.

Karyotype of the abortus in recurrent miscarriage. Cytogenetic anlysis of miscarriages from couples with recurrent miscarriage: Pathology of spontaneous abortions and chromosomal abnormalities in stillbirth and neonatal death. Developmental pathology of the embryo and fetus.


Aneuploidias dos cromossomos sexuais

Chromosome analysis of 52 spontaneous abortuses in Brazil. Placental and decidual histology in spontaneous abortion: Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Prenatal diagnosis of chromosomal abnormalities in women with high risk pregnancies. Indian J Med Res. Prenatal detection of aneuploidies using euploivia in situ hybridization: Analysis of sex and D F in single amniocytes using primer extension pre-amplification.

Mutation analysis of subjects with 46,XX sex reversal and 46,XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. Anatomic and chromosomal anomalies in spontaneous abortuses. Comparison of histological features in early spontaneous and induced trisomic abortions. A cytogenetic study of spontaneous abortions with direct eiploidia of chorionic villi.

A clinical, eupliidia and flow cytometric study of complete moles, partial moles and non-molar hydropic abortions.

Cytogenetic and molecular evaluation of spontaneous abortion samples

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