G. N. Bekdache

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

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

Prenatal Diagnosis of Triploidy Associated with Holoprosencephaly: A Case Report and Review of the Literature

We sought to identify risk factors of prenatal presentation of holoprosencephaly associated with triploidy. A case report is presented with review of the literature performed using the PubMed database. The latest search was done in June 2008. Literature review showed 11 reports with a total of 15 cases of holoprosencephaly associated with triploidy. The mean maternal age at diagnosis was 27 +/- 4.9 years, and the mean gestational age at diagnosis was 13.6 +/- 3.3 weeks. Triploidy was mainly associated with the alobar type of holoprosencephaly. Only 3 (20%) cases had associated placental abnormalities. In all cases, the pregnancy was terminated. The latest gestational age at which termination was performed was 23 weeks. Facial abnormalities were the most common associated feature (66.6%). The association of triploidy with holoprosencephaly is very rare. This association does not seem to be related to maternal age. It is mainly associated with alobar holoprosencephaly. Diagnosis is possible during the first trimester. Fetuses can survive up to the third trimester.

Transplacental transfer of 2-naphthol in human placenta

Objective To determine the transfer of 2-naphthol (2-NPH) in fullterm human placental tissues. Methods Six placentas were studied. The ex-vivo dual closed-loop human placental cotyledon perfusion model was used. 2-NPH was added to the perfusate in the maternal compartment. Samples were obtained from the maternal and fetal up to 360 min measuring. Results The mean fetal weight was 2880 ± 304.2 g. Mean perfused cotyledon weight was 26.3 (±5.5) g. All unperfused placental tissue samples contained NPH with a mean level of 7.98 (±1.73) μg\g compared to a mean of 15.58 (±4.53) μg\g after 360 min perfusion. A rapid drop in maternal 2-NPH concentration was observed; from 5.54 μg\g in the first 15 min and 13.8 μg\g in 360 min. The fetal side increased from 0.65 μg\g in the initial 15 min to 1.5 μg\g in 360 min. The transfer rate of NPH was much lower than that of antipyrine. Conclusion 2-NPH has the ability to rapidly across the placenta from the maternal to the fetal compartment within 15 min. The placenta seems to play a role in limiting the passage of 2-NPH in the fetal compartment.

Perinatal outcome of congenital heart disease in a population with high consanguinity.

Abstract Objective: To report the perinatal pattern and outcome of fetuses with congenital heart disease (CHD) in consanguineous marriages. Methods: Retrospective chart review was performed for fetuses undergoing fetal echocardiography (FE) in our institution. The primary outcome was survival at 28 days after birth. Results: Between 1 January 2005 and 31 December 2010, 1950 pregnant women carrying 2151 fetuses underwent a total of 2828 FEs. CHD was diagnosed in 152 fetuses (7.1%), and perinatal outcome was available in 120, among which 78 (65%) had consanguineous parents. Thirteen fetuses died in utero, while 86 (71.7%) survived. The most prevalent lesions included left heart obstruction (25.8%), conotruncal malformations (21.7%), septal defects (18.3%), and cardiomyopathy (15.8%). Correct diagnosis was achieved in 92.2% of the cases. Extracardiac malformations occurred in 48.3% of the fetuses and were associated with increased mortality regardless of the type of CHD (P<0.001, odds ratio 6.8, 95% confidence interval 2.7–17.5). Conclusion: Joint FE clinics detect most CHD with high accuracy. Consanguinity contributes to a higher prevalence of fetal cardiac and non-cardiac malformations. The presence of extracardiac anomalies is associated with an increase in perinatal mortality.

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.

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.

Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges

A 34-year-old woman visited the clinic at 19 weeks of pregnancy. Detailed sonography revealed an abnormal face profile with a hypoplastic nasal bone, marked nuchal oedema (NF1⁄4 9 mm) and an abnormal 4-chamber view of the heart. Amniocentesis confirmed trisomy 22. The view of the heart showed normal situs solitus. Both atria drained predominantly into a single ventricle which had the characteristics of a left ventricle. There was a small right ventricle with an unrestrictive VSD. The great arteries were normally related and normally connected with the pulmonary artery arising from the RV. There was no significant great artery disproportion. Cardiac function was well preserved and there was no AV valve regurgitation. Staged palliative surgery should aim at achieving a single ventricle circulation in the long term. The first of these would probably be a pulmonary artery banding procedure in early infancy. This would be followed by two further operations. The outlook for this type of heart condition is uncertain with limitations to quality of life. Taking into account trisomy 22, there would be a poor outlook both prenatally and postnatally (Mokate et al. 2006). This unborn child suffered from a rare and lethal disorder. Our report demonstrates the heart problems in trisomy 22, and the doubts that arose regarding the quality of life for this child. The patient reported reduced fetal movements over the last 5 days, the umbilical artery PI was raised. The patient attended medical appointments with the genetics team as part of our care. After further counselling, fetocide was performed on the 27th week of gestation.