منابع مشابه
Antenatal diagnosis of genetic disease.
During the past decade, a vast methodology has been developed for the study and antenatal diagnosis of genetic disorders. The cytogenetic antenatal diagnosis of chromosome abnormalities is possible through the application of new methods for chromosome visualization in cultured amniotic fluid cells. A variety of inborn errors of metabolism may be diagnosed prenatally by the study of amniotic flu...
متن کاملAntenatal diagnosis of abdominal wall defects: a missed opportunity?
A review of six years' experience with antenatal diagnosis of abdominal wall defects by ultrasound showed its impact to be limited by poor detection rates. Twenty infants with exomphalos and 20 with gastroschisis were recorded but only 25 (63%) were diagnosed antenatally. The ultrasound false negative rate was higher for exomphalos (35%) than for gastroschisis (22%). No difference was detected ...
متن کاملDiagnosis of genetic defects by chromosomal analysis.
Of 901 karyotypes performed over a period of 4 years, genetic anomalies were detected in 162 cases. Down's syndrome (trisomy 21) was the most common (168.8%) genetic disorder followed by Turner's syndrome, Philadelphia chromosome, Klinefelter's syndrome, Edward's syndrome (trisomy 18) and Patau's syndrome (trisomy 13). All the three trisomies were detected very early in life. Mean age at the ti...
متن کاملDiagnosis of genetic defects through parallel assessment of PLCζ and CAPZA3 in infertile men with history of failed oocyte activation
Objective(s): Phospholipase C ζ (PLCζ) is considered as a nominee for sperm associated oocyte activating factors and is located back-to-back with CAPZA3, an actin-capping protein controlling actin polymerization during spermiogenesis. They contain a common bidirectional promoter. The objective of this study was to identify individuals with parallel low expression of PLCζ and CAPZA3 mRNA, in hop...
متن کاملAntenatal genetic diagnosis: current status and future prospects.
The current status of antenatal genetic diagnosis is reviewed and the limitations of present techniques are discussed. It is suggested that multidisciplinary clinics are the most efficient means of providing this aspect of health care. Advances in cell culture techniques, in ultrasonography and in fetoscopy will extend the services available, and the impact of this will be felt by the community...
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ژورنال
عنوان ژورنال: Nature
سال: 1978
ISSN: 0028-0836,1476-4687
DOI: 10.1038/276114a0