3–7 September 2006, London, UK Poster abstracts which 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 (group III). 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. P02.27 A black spine at thirteen weeks – an early and easily recognisable sign of cleido-cranial dysplasia H. D. Hove 1 , N. V. Hermann 2 , C. Joergensen 3 , S. Kreiborg 2 , K. Sundberg 3 1 Department of Clinical Genetics, Rigshospitalet, Denmark, 2 Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Denmark, 3 Department of Fetal Medicine, Rigshospitalet, Denmark 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 early and easily recognisable sign of CCD. P02.28 Prenatal diagnosis of craniosynostosis: case report and review of the literature J. Jadaon , S. Haddad, Y. Perlitz, M. Ben-Ami Baruch Padeh Medical Center, Israel Craniosynostosis is defined as the premature closure of the calvarial sutures. It occurs with a birth prevalence of 1 : 2100 to 1 : 2500, and may be caused by genetic and environmental factors. While Sagittal synostosis is the most frequent type, the lambdoid synostosis seems to occur with very low frequency. We present a case of craniosynostosis diagnosed at 26 weeks’ gestation by ultrasound. A 39-year-old woman, G3 P2, with a history of thrombophilia (MTHFR homozygote) treated with Enoxaparin and Aspirin during pregnancy, was admitted to the hospital with severe pre-eclampsia and severe intrauterine growth restriction. During pregnancy, routine serum screening for Down syndrome and neural tube defects showed an elevated alpha feto protein and HCG, while fetal karyotype was normal. The ultrasonographic fetal anatomical survey at 22 weeks was normal. On routine ultrasound examination, an anomaly of the skull was suspected. Directed sonographic examination revealed the diagnosis of craniosynostosis. A termination of pregnancy was performed due to the cranial pathology and the deterioration to HELLP syndrome, and the diagnosis of craniosynostosis was confirmed by radiological and pathological examination. P02.29 Achondrogenesis type II-hypochondrogenesis: a case report A. Carmo 1 , F. M. Galera 2 , M. A. M. V. Carmo 1 , T. Matos 2 , A. Maitelli 1 , C. M. R. Rondon 1 1 Federal University of Mato Grosso, Brazil, 2 Cuiab ´ a University Medical School, Brazil Chondrodysplasias are a heterogenous group of skeletal dysplasias affecting the growing cartilage. Type II collagenopathies comprise part of chondrodysplasias, consisting of hereditary disorders caused by defects in the type II collagen. Collagen type II is coded by a large geneCOL2A1. The chromosomal location for the human COL2A1 gene is 12q13.11-q13.12. Defects in collagen type II are caused by point mutations in the COL2A1 gene. Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia congenita, Marshall Syndrome, to the mild forms Stickler syndrome and early osteoarthritis. Achondrogenesis II-hypochondrogenesis is a lethal form of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). We present a case of this lethal dysplasia suspected after ultrasound scan of a 34-year-old pregnant woman at 22 weeks’ gestation, GII PI A0. The ultrasonographic findings were: micrognathia, shortening of the extremities and increased cardiothoracic ratio. It was necessary to perform one amniodrainage at 32 weeks’ gestation. There was recurrence of the polyhydramnios two weeks later. The delivery was at 36 weeks’ gestation and the its weight was 2.505 Kg. The Apgar scores were 5 (1 minute) and 9 (5 minutes). The newborn was a female and presented shortening of the extremities, micrognathia and narrow thorax confirmed by clinical and radiological assessment showing platyspondylic dwarfism. The geneticist added soft palate cleft and short neck. The brain ultrasound scan was normal. Most of them die at the first hours from hypoplastic lung. Theses cases are generally sporadic. Is is possible to suspect the diagnosis of hypochondrogenesis Type II in the presence of the above ultrasonographic findings. P02.30 Myoclonic jerks during first trimester as an early sonographic symptom of arthrogryposis multiplex R. Hershkovitz , D. Landau, A. Bashiri, E. Borstein, M. Mazor Soroka University Medical Center, Israel Arthrogryposis multiplex is a multiple joint contraction syndrome. The etiology of this syndrome is hypokynesia/akinesia of joints resulting from a neurogenic disorder followed by myopathic disor- der. Recently, a local Israeli syndrome was described as the lethal Ultrasound in Obstetrics & Gynecology 2006; 28: 512–614 529