Complete ascertainment of lethal neonatal short-limb chondrodysplasias was attempted in the West of Scotland for the period 1970-1983. Forty-three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis included 11 well-delineated skeletal dysplasias, one case of warfarin embryopathy, and one apparently new condition with presumed autosomal recessive inheritance that has radiographic similarities to those of thanatophoric dysplasia (TD). In this series TD had an incidence of 1 in 42,221, which is consistent with new dominant mutation at a rate of 11.8 +/- 4.1 X 10(-6) mutations per gene per generation. Ultrasonic measurement of fetal long bone length was performed in eight subsequent pregnancies at risk. Five unaffected fetuses were predicted correctly and three affected fetuses were detected during the second trimester (one with rhizomelic chondrodysplasia punctata-second trimester prenatal diagnosis not previously reported; one with achondrogenesis type II; and one with the new lethal condition).

As part of a regional screening programme for neural-tube defects the cause of the raised a-fetoprotein levels was correctly identified in 13 pregnancies with a fetal abdominal wall defect by the 22nd week. Careful ultrasound study identified gastroschisis in seven fetuses and exomphalos in six: the presence or absence of a sac, the course of the umbilical vessels and the abdominal organs involved were the most important diagnostic criteria. Pregnancy continued into the third trimester in five cases complicated solely by gastroschisis and two babies have survived the neonatal period following surgical correction. It is suggested that precise identification by ultrasound of the type and severity of abdominal wall defect and also of the presence or absence of associated anomalies will enable the selection of some babies with gastroschisis or isolated exomphalos which have a good prognosis for survival without handicap.

During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.

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