Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected child. The results of this analysis predicted that the child would be affected. As predictions of the severity of the disease were not possible, the pregnancy was also assessed by ultrasound imaging. This confirmed the affected diagnosis and predicted that the child would be severely affected. (J7Med Genet 1996;33:603-606)

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Summary. Fifty women, aged between 37 and 76 years, underwent a bladder sling operation for urinary incontinence using porcine dermis. All patients had undergone previous unsuccessful vaginal surgery for genuine stress incontinence and had stable bladders. Thirty‐nine patients (78%) were made continent of urine, both subjectively and on urodynamic testing.

The ultrasound findings in a series of 15 prenatally diagnosed cases of severe osteogenesis imperfecta types IIA, IIB, IIC, and III are described, eleven being detected on routine scans of women with no relevant history. As most cases of osteogenesis imperfecta type IIA are dominant sporadic mutations, the importance of prenatal diagnosis during routine scanning at a local level is emphasized. In addition to characteristic broad, shortened and fractured long bones, striking features of the chest and head are highlighted which may be encountered during a routine scan, prompting further assessment.

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