P. Falco

Prenatal diagnosis of open and closed spina bifida

To identify criteria useful for differentiating closed from open spina bifida antenatally.

Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum

To present antenatal sonographic findings and outcome of fetuses with hypoplasia or partial agenesis of the corpus callosum.

Sonography of pregnancies with first-trimester bleeding and a small intrauterine gestational sac without a demonstrable embryo

This was a prospective observational cohort study to evaluate the outcome and prognostic criteria of pregnancies with first‐trimester bleeding and a gestational sac ≤16 mm without a demonstrable embryo.

Ultrasound of the fetal central nervous system.

Current ultrasound equipment allows the antenatal identification of many central nervous system anomalies from early gestation. In selected cases, special techniques (transvaginal sonography, three-dimensional ultrasound, colour Doppler) may enhance the diagnostic potential. Diagnostic accuracy, however, remains heavily dependent upon the expertise of the sonologist. Fetal ultrasound is effective in identifying neural tube defects, although alpha-fetoprotein screening seems to yield a greater sensitivity. The sensitivity in the diagnosis of central nervous system malformations other than neural tube defects remains unclear because of the ascertainment biases of the few large prospective studies that have been carried out so far. Magnetic resonance imaging may play a major role in the evaluation of cases with suboptimal ultrasound visualization, or when specific anomalies are suspected, such as intracranial haemorrhage or migrational disorders.

Microcolposcopic topographic endocervical assessment before excisional treatment of cervical intraepithelial neoplasia

Objective To evaluate whether microcolposcopic topographic endocervical assessment reduces the failures of excisional treatment of cervical intraepithelial neoplasia (CIN). Methods Three hundred fifty patients with colposcopic and histopatologic findings of endocervical CIN were recruited for excisional treatment. Three hundred forty-eight of these were randomized to have or not have microcolposcopy before excisional treatment. Measurement of endocervical lesion was the only aim of microcolposcopic evaluation. When an endocervical extension was available, the cone biopsy was cut according to microcolposcopic measurement. Excision status was evaluated and related to presurgical management on operative specimens. After excision, patients were followed-up for at least 5 years after treatment. Three hundred thirty (171 and 159 with and without preoperative microcolposcopy, respectively) patients completed the study. Disease persistences were defined by cytologic, colposcopic, and histologic results. Microcolposcopic value was defined as completeness of excision and/or lack of persistent disease. Results On surgical specimens, involved margins were detected in 19 (5.4%) cases. Presurgical microcolposcopy was performed in only one of these cases. The difference of incomplete excision between cases with or without microcolposcopy was statistically significant (P < .001). In patients who were followed-up, persistent disease was detected in one (0.6%) woman in the microcolposcopy group and in 16 (10%) women in the control group. Comparison between the two groups showed a significantly lower risk of persistent disease when presurgical microcolposcopy was performed (P < .001). Conclusion By measuring endocervical extension of the lesion, preoperative microcolposcopy allows individualized cones, thus improving the prognosis after excisional treatment of CIN.

OP02.39: Outcome of fetuses with prenatal diagnosis of finger and toe anomalies

Achondroplasia n << 3rd n FB Short macrocephaly Acromesomelic n < 3rd n mild FB Short skull shape, narrow chest, bowed humerus Kneist n or 5th ≤ 5th n flat, mild micrognathia N short chest, talipes, bowed long bones SEDC < 5th << 3rd micrognathia N short chest Stickler 5th 5th n flat N OI IV n n n n N mild femoral bowing Brachytelephalangelic CDP 5th < 5th stippled DNB Camptodactly, stippled carpals stippled epiphyses Conradi Hunerman < 5th < 5th stippled DNB N stippled epiphyses

P15.03: Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum: Poster abstracts

Objectives: To assess the feasibility of prenatal diagnosis and the outcome of partial agenesis (PACC) and hypoplasia of corpus callosum (HCC). Methods: PACC/HCC were suspected on fetal multiplanar neurosonography when the corpus callosum appeared caudally shorter and thinner respectively. Follow-up was obtained in all cases. Results: Between 1990–2003, 8 cases of PACC and 3 cases of HCC were identified at a median gestational age of 22 weeks (21–33) (see table). The cavum septi pellucidum was present in 9 cases, in 7 there was mild to severe ventriculomegaly, usually in association with ‘teardrop’ lateral ventricles, and 4 had associated cerebral anomalies (Dandy-Walker complex, emimegalencephaly, microcephaly). Magnetic resonance (MR) was performed in 4/11 cases without adding significant information. Five fetuses were terminated, 7 had multiple anomalies, and 3 are developing normally. Conclusions: PACC can be reliably diagnosed since midgestation. However, multiplanar neurosonography is required. On standard axial planes sonographic findings are similar to complete agenesis but more subtle. In particular the cavum septi pellucidum is usually present. MR did not offer significant advantage over multiplanar neurosonography. HCC was an incidental finding usually in fetuses with multiple anomalies. The outcome of PACC/HCC is similar to complete agenesis of the corpus callosum.

OC155: False negatives of cranial signs in the prediction of spina bifida

Objective: To investigate the natural history and outcome of fetal agenesis of the corpus callosum diagnosed by routine ultrasound scanning at 18–23 weeks’ gestation. Patients and Methods: This was a retrospective study of all cases of fetal agenesis of the corpus callosum diagnosed at 18–23 weeks of gestation. All cases were referred to one of two tertiary centres for further management of suspected fetal structural abnormality. A computer search was made to identify all cases of fetal corpus callosum agenesis and the records of these patients were examined to determine the incidence of other defects and pregnancy outcome. Results: There were 138 cases of fetal agenesis of the corpus callosum. Of the 32 (23.2%) cases of fetal aneuploidy, trisomy 18 (n = 22) was the commonest. Even in the absence of aneuploidy, a significant number of cases were associated with other fetal brain abnormalities. There were 93 terminations of pregnancy, 4 intrauterine deaths and 1 neonatal death. Thirty cases were known to be liveborn and another 10 were lost to follow-up. Of the neonates delivered 2 or more years ago, approximately 50% have evidence of significant developmental delay. Conclusion: The outcome of antenatally detected talipes is mainly dependent on the presence or absence of other defects. Agenesis of the corpus callosum is significantly associated with chromosome abnormalities and other structural brain anomalies. In contrast to the published evidence, our data suggests that the outcome of isolated agenesis of the corpus callosum is associated with a guarded long-term neurodevelopmental prognosis.