Abstract
The first ever antenatal diagnosis of Patau's syndrome (trisomy 13) during the 19th week of the pregnancy of a 42-year-old woman is reported. Karyotypes were obtained from amniotic fluid cell cultures established at 17 weeks and the results were confirmed by chromosome banding studies and fetal skin cultures. The pregnancy was terminated by hysterotomy and sterilization was performed at the same operation. A detailed description of the fetus is included and the pathogenesis of arrhinencephaly is discussed. The current status of antenatal screening for chromosome anomalies is presented.
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Selected References
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- Butler L. J., Reiss H. E. Antenatal detection of chromosome abnormalities. J Obstet Gynaecol Br Commonw. 1970 Oct;77(10):902–907. doi: 10.1111/j.1471-0528.1970.tb03424.x. [DOI] [PubMed] [Google Scholar]
- Ferguson-Smith M. E., Ferguson-Smith M. A., Nevin N. C., Stone M. Chromosome analysis before birth and its value in genetic counselling. Br Med J. 1971 Oct 9;4(5779):69–74. doi: 10.1136/bmj.4.5779.69. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nadler H. L., Gerbie A. Present status of amniocentesis in intrauterine diagnosis of genetic defects. Obstet Gynecol. 1971 Nov;38(5):789–799. [PubMed] [Google Scholar]
- Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
- Snodgrass G. J., Butler L. J., France N. E., Crome L., Russell A. The "D" (13-15) trisomy syndrome: an analysis of 7 examples. Arch Dis Child. 1966 Jun;41(217):250–261. doi: 10.1136/adc.41.217.250. [DOI] [PMC free article] [PubMed] [Google Scholar]