Our study suggests that pregnancy does not have a deleterious effect on the course of BD and may possibly ameliorate its course. However, it seems that BD may adversely affect pregnancy. The miscarriage rate was higher, and the pregnancy complications and cesarean section rates were significantly elevated.

Our study suggests that pregnancy does not have a deleterious effect on the course of BD and may possibly ameliorate its course. However, it seems that BD may adversely affect pregnancy. The miscarriage rate was higher, and the pregnancy complications and cesarean section rates were significantly elevated.

Poster abstractswhich is a local tertiary referral center. Gestational age at referral was defined as time of diagnosis. The cases in which the malformation was already known for more than one week and fetuses with further malformations were excluded. The number of fetuses, mean gestational age at diagnosis, the rate of fetuses with diagnosis before 17 weeks of gestation (wks) and 25 wks and reason for referral were compared between three groups: 1994-1996 (group I), 1997-1999 (group II) und 2000-2003. Results: In 77 fetuses between 14 and 36 wks a spina bifida was detected. The number (n) and mean gestational age at diagnosis was n = 12 at 23.0 + 6.5 wks in group I, in group II n = 24 at 23.8 + 6.3 wks and in group III n = 41 at 22.2 + 5.9 wks. The rate of diagnosis before 17 wks was 0%, 12.5% and 17.0% and before 25 wks 66.0%, 62.5% and 73.2%, respectively. The reason for referral was the suspicion of a fetal malformation in 52.0% in group II and 70.7% in group III. Conclusions: Our results show a slow decrease in gestational age of the prenatal diagnosis of spina bifida and an increasing rate of fetuses referred for malformations to the tertiary centre during a decade. However, in a quarter of all affected fetuses the diagnosis is still made after 24 weeks of gestation. If the benefit of fetal surgery to prevent secondary damage will be proved, an early diagnosis of spina bifida will be important for these individuals. Cleido-cranial dysplasia (CCD) is characterized by a triad of calvarial dysostosis, hypoplasia or absence of clavicles, and supernumerary permanent teeth. The delayed calvarial ossification necessitates a planned Cesarean section in order to prevent a possible severe brain damage during birth. Therefore, early recognition of CCD is of major clinical importance. In the present case report, the patient was a 30-year-old gravida 2 para 1 with RUNX2-negative CCD. Family history comprised three generations of clinically diagnosed CCD; including the father of the patient and her first child born in 2000. An ultrasound examination was performed using a GE Voluson 730 Expert scanner at week 13 + 6. The severely delayed ossification of the vertebral spine was easily seen as echo poor, nearly black vertebral bodies, both on longitudinal as well as on transverse sections. In the calvaria, only the frontal bone showed signs of calcification, confirming severe delay in calvarial ossification. The clavicles were barely seen, lacking the typical S-shape. Except for short femurs, all other anatomic structures were normal for gestational age. Serial ultrasound examinations during pregnancy confirmed the diagnosis, but as ossification progressed the above mentioned manifestations became less distinct. A Cesarean section was performed in week 38. The infant had the same clinical signs of CCD as his affected family members. In conclusion, this case demonstrates that early ultrasound around thirteen weeks should be performed in pregnancies at risk of CCD since delayed mineralisation of the vertebral spine is an ea...