Direct DNA analysis for diagnosing fetal sickle status in first trimester chorion tissue

Summary

Transcervical chorion biopsy and gene probe analysis for prenatal diagnosis in two patients at risk from sickle cell anaemia are described. Trophoblast tissue was aspirated under ultrasound control. The DNA was extracted and successful direct restriction endonuclease analysis was carried out. These methods are presented as an alternative to mid-second trimester fetal blood sampling and later termination of pregnancy.