RESUMO
PURPOSE: To prospectively validate a quantitative fluorescent polymerase chain reaction (PCR) assay as a method of rapid prenatal aneuploidy detection for chromosomes 13, 18, 21, X, and Y. METHODS: A commercial quantitative fluorescent PCR kit was validated on 200 known, blinded, prenatal DNA specimens. The kit was then validated prospectively on 1069 amniotic fluid specimens, and the results were compared with the karyotype results and the results of interphase fluorescence in situ hybridization testing, when performed in the course of standard care. Turnaround time was monitored in a subset of the prospective specimens. RESULTS: The analytical sensitivity and specificity of testing in the validation specimens were 98.9% and 100%, respectively. There were no false positives and a single false negative, a mosaic sex chromosome aneuploidy interpreted as normal. In the prospective study, the analytical sensitivity and specificity were 98% and 100%, respectively. No false positives and a single false negative, again a sex chromosome mosaic, were detected. Overall, 72.5% of all chromosomal anomalies and 87.7% of clinically significant chromosome anomalies were detected by quantitative fluorescent PCR. The average and median turnaround times were 30.5 and 25.1 hours, respectively. CONCLUSIONS: Quantitative fluorescent PCR is a robust and accurate method of rapid prenatal aneuploidy detection.
Assuntos
Aneuploidia , Reação em Cadeia da Polimerase/métodos , Diagnóstico Pré-Natal/métodos , Adolescente , Adulto , Líquido Amniótico/química , Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 21/genética , Cromossomos Humanos X/genética , Reações Falso-Positivas , Feminino , Fluorescência , Humanos , Pessoa de Meia-Idade , Gravidez , Adulto JovemRESUMO
Three cases of histologically proven endometrial carcinoma (EmCa) demonstrated no residual carcinoma or biopsy site on the subsequent hysterectomy specimen. The shared identity of both endometrial biopsy and hysterectomy specimen was proven, and specimen misidentification was excluded in all 3 cases through successful DNA profiling. Just as vanishing cancer in prostatic carcinoma has recently been defined and accepted, it is suggested that vanishing EmCa can also be defined using specific pathological and clinical criteria. DNA profiling may serve to confirm the diagnosis. Vanishing EmCa is only a small subset within hysterectomy specimens that show no EmCa after a histological diagnosis of EmCa. The concept of vanishing EmCa may be useful in both clinical and medicolegal practice.
Assuntos
Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Neoplasias do Endométrio/patologia , Neoplasias do Endométrio/cirurgia , Adenocarcinoma/genética , Idoso , Impressões Digitais de DNA , DNA de Neoplasias/química , DNA de Neoplasias/genética , Neoplasias do Endométrio/genética , Feminino , Humanos , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Reação em Cadeia da PolimeraseRESUMO
The authors describe the novel occurrence of homozygosity for the CAG expansion in the androgen receptor gene causing Kennedy disease in two sisters (ages 34 and 42). Symptoms were limited to occasional muscle cramps and twitches. Physical examinations were normal apart from mild hand tremor in both women and rare perioral fasciculations in the older sibling. Electrodiagnostic studies were normal except for evidence of mild motor axonal loss in the sternocleidomastoid muscle of the older sibling.