M. Begam

Stuve–Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones

To describe the prenatal sonographic features of Stuve–Wiedemann syndrome (SWS).

Inseparable thoraco-omphalopagus twins.

Conjoined twins occur at the rate of 1 in 50 to 200,000 live births, and 75% of these share the thorax (thoracopagus) or the thorax and upper abdomen (thoraco-omphalopagus), resulting in cardiac and hepatic sharing. Antenatal diagnosis can delineate the cardiac anatomy and provide parental counseling on whether separation is possible after birth. In the majority of cases, thoracopagus twins have a complex cardiac anatomy and share a common pericardial sac. Separation and survival depend on the extent to which the cardiac chambers and conduction system are fused. When the twins share the atria, ventricles, or both, death is inevitable even if surgical separation is occasionally attempted.

Fibrochondrogenesis: Prenatal diagnosis and outcome

We studied 20 cases with fibrochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identified through a review of literature (in English). The prenatal diagnosis of FCG was made in 4/20 (20%). Six (30%) patients opted for termination of pregnancy (TOP). A total of 13 cases delivered at term. Four (30.8%) had a caesarean section. Four neonates (30.7%) were stillborn and seven (53.8%) neonates died within 3 months. Two infants survived beyond 3 years of age, but both had severe global developmental delay. A molecular study of the surviving children revealed two null homozygous mutations in COL11A1 [c.4084C > T (p.R1362X) and c.3708 + c.437T > G]. We concluded that the prenatal diagnosis of fibrochondrogenesis is feasible. Fibrochondrogenesis is usually a fatal disease and survivors suffer from severe physical and neurological impairment.

Specialised fetal and maternal service: Outcome of pre-gestational diabetes

The objective of the study was to determine the outcome of pregnancies with pre-gestational diabetes mellitus (PGDM) in the presence of a specialised maternal and fetal service. Prospective data included mothers with documented pre-gestational diabetes (PGDM) delivered between 1 January 2007 and 31 December 2009. A total of 138 patients with PGDM were included in this study. The post-lunch glucose level at 34 weeks was significantly lower than at 30 weeks’ gestation (p = 0.007) and 37 weeks’ gestation (p = 0.02). No correlation was observed between maternal blood sugar and birth weight. The incidence of pre-term labour, stillbirth and admission to the NICU was similar to the control group. Caesarean section rate was 39.1%, and the main indication was previous caesarean section. The incidence of fetal anomalies was significantly higher than in the control group. It was concluded that the presence of specialised maternal and fetal clinics reduces complications related to prenatal glycaemic control. However, complications related to preconception care remains high.

Prenatal diagnosis of extrahepatic umbilicoportosystemic shunt: impact on postnatal management

Fo r pe rs on al u se o nl y. Introduction Congenital agenesis of the portal venous system (CAPVS) with extrahepatic umbilicoportosystemic (EHUPS) shunt is an extremely rare abnormality that permits the diversion of the portal fl ow to the systemic circulation. Th e absence of any fl ow regulation (absent ductus venosus) results in increased volume and pressure in the systemic system which may compromise the haemodynamic stability of the fetus and newborn (Gorincour et al. 2005). Correct prenatal diagnosis promotes early neonatal management and decreases morbidity. We present a case of prenatal diagnosis of EHUPS, which was confi rmed and managed postnatally.

OP38.07: Fetal measurements and growth in pregestational diabetes mellitus

important questions such as correct datation, presence of maternal disease and malformations, which are not described as exclusions in many centers. Methods: Retrospective analysis of all singleton liveborns from Padre Hurtado Hospital, Santiago, from 2005 to 2009. Fetal demises and severe malformations were excluded. Maternal diseases such as tobacco and drug addiction, hypertensive disorders and pregestational diabetes were excluded. Z-scores were calculated with charts in use in Chile, from Gonzalez, to adjust for gestational age. Results: 28145 liveborn without congenital anomalies conform the study group. Analysis was performed by groups of GA. There was no difference in pregnancies that delivered from 24–27 weeks, though the cases are few. From 28 to 39 weeks, there is significant difference between liveborns from mothers with and without diseases. The frequency of maternal diseases peaked highest at 31 weeks, reaching 41% and only 15% and 8% at 38 and 39 weeks respectively. Conclusions: Population based fetal birth need to be checked for maternal diseases, as there is significant difference in weight expressed in lower Z-scores.