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Summary. 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 ofthe fetus is included and the pathogenesis of arrhinencephaly is discussed. The current status of antenatal screening for chromosome anomalies is presented.

Summary Techniques are described for obtaining amniotic fluid by abdominal amniocentesis and for the subsequent culture of the cells contained in the fluid for karyotyping and other studies. Problems relating to fluid collection and cell culture are discussed. Some general comments are added on the feasibility of using the technique in the management of high risk pregnancies and in large‐scale screening for chromosome abnormalities.

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