E Sleurs

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Purpose:To evaluate the clinical utility of chromosomal microarrays for prenatal diagnosis by a prospective study of fetuses with abnormalities detected on ultrasound.Methods:Patients referred for prenatal diagnosis due to ultrasound anomalies underwent analysis by array comparative genomic hybridization as the first-tier diagnostic test.Results:A total of 383 prenatal samples underwent analysis by array comparative genomic hybridization. Array analysis revealed causal imbalances in a total of 9.6% of patients (n = 37). Submicroscopic copy-number variations were detected in 2.6% of patients (n = 10/37), and arrays added valuable information over conventional karyotyping in 3.9% of patients (n = 15/37). We highlight a novel advantage of arrays; a 500-kb paternal insertional translocation is the likely driver of a de novo unbalanced translocation, thus improving recurrence risk calculation in this family. Variants of uncertain significance were revealed in 1.6% of patients (n = 6/383).Conclusion:We demonstrate the added value of chromosomal microarrays for prenatal diagnosis in the presence of ultrasound anomalies. We advocate reporting back only copy-number variations with known pathogenic significance. Although this approach might be considered opposite to the ideal of full reproductive autonomy of the parents, we argue why providing all information to parents may result in a false sense of autonomy.Genet Med 16 6, 469–476.

Prenatal diagnosis of absent pulmonary valve syndrome in association with 22q11 deletion

Objective. To describe the prenatal sonographic appearances in cases of absent pulmonary valve syndrome and the importance of investigating the presence of 22q11 deletion. Methods. We describe 2 cases, which were referred because of a suspicion of a cardiac malformation. In both cases, a large anechoic mass emerging from the right ventricle was visualized and identified as an aneurysmal dilatation of the pulmonary trunk with hypertrophy of the right ventricle. The diagnosis of tetralogy of Fallot with absent pulmonary valve syndrome and a secondary diverticular dilatation of the pulmonary artery was made. A review of the literature revealed another 18 cases of prenatal diagnosis of absent pulmonary valve syndrome with or without knowledge of chromosomal abnormalities. Results. Pathologic examinations confirmed the diagnosis of absent pulmonary valve syndrome in both cases. Final results of fetal karyotyping revealed a 22q11 deletion in the first case. Conclusions. An abnormal 4‐chamber view with an aneurysmal dilatation of the pulmonary trunk should suggest the diagnosis of this rare congenital anomaly. Perinatal death occurs in more than 60% of cases and is usually associated with hydrops fetalis, the presence of other malformations, or both. Even in the absence of extracardiac malformations, investigation for 22q11 deletion in cases of conotruncal cardiac abnormalities is recommended.

OP13.04: Congenital CMV infection: ultrasound abnormalities in a non-selected population

unicornuate uterus. We compare the pregnancy outcomes with each anomaly. Results: We found 106 cases of congenital uterine anomaly within a given period of time. There are 63 cases of bicornuate uterus, 19 cases of didelphys, 16 cases of septate uterus, 5 cases of arcuate uterus, and 3 cases of unicornuate uterus. The overall preterm delivery rate is 22.6% (24/106), and Cesarean section rate is 74.5% (79/106). A high Cesarean section rate is due to metroplasty, abnormal fetal presentation, and uterine anomaly itself. The preterm delivery rate and Cesarean section rate of each uterine anomaly do not differ statistically from one another. Five fetuses were stillborn, and one fetus died after birth because of a placenta abruption. The overall take-home baby rate is 94.3% (100/106). There is no maternal mortality and only one case was suffered from postpartum bleeding. Conclusions: Our results suggest that the most of women with uterine anomaly exceeding 20 weeks of gestation may take their baby home.

OP05.11: Does the way of conception influence pregnancy outcome after fetal reduction?

of both twins occurred in the first 72 hours. Among the remaining 21 cases, two pregnancies are ongoing and beyond 28 weeks. The mean gestational age at delivery of the remaining 19 cases was 31.2 weeks (range, 25–36) and the mean birthweight of the liveborns was 1584 g (range, 460–3800). Overall, both fetuses were born alive in 46% (11/24) of cases, only one fetus was born alive in 33% (8/24), and neither was born alive in the remaining 20% (5/24). 24 of the 30 (80%) nfants born alive survived the perinatal period, yielding an overall perinatal survival rate of 50%. All neonatal deaths were associated with extreme prematurity. Conclusions: Selective laser coagulation appears to be a good treatment option in cases of severe TTTS, but requires technical skills and adequate equipment. Training in identifying the vascular anastomoses is essential before attempting the procedure as this is a critical step in achieving success. Prematurity and its consequences remain major drawbacks. Long-term follow-up, currently underway in our series, is necessary to assess the rate of cardiac and neurological sequelae in the surviving infants.

P04.21: Are 3D sweeps a useful tool to examine the normal fetal heart? A pilot study

Results: Eleven cases of suspected venous anomalies of the cardinal and umbilical veins were evaluated. B-flow provided complete 3D rendition of anomalous anatomy in interrupted IVC with azygos continuation, three cases of agenesis of ductus venosus, one draining into the right atrium, one to the IVC, and one to the right iliac vein; one case of persistent left SVC with drainage to the coronary sinus, one case of PRUV, and one intra-abdominal umbilical vein varix. B-flow was found to have added value as compared to both power Doppler and inversion mode in the evaluation of these lesions, by demonstrating the three dimensional structure of the affected vessels in these complex lesions. The modality was found to improve diagnostic capability as well as communication with professionals and parents. Conclusions: In cases of venous anomalies, B-flow modality can become an important adjunct to complete fetal assessment, and may aid in diagnosis, counseling, and professional consultation.

OC33.01: Multi-slice imaging of the normal fetal heart: a promising new tool?

volume (SV), cardiac output (CO) and total vascular resistance. Simultaneous FBC, electrolyte count, and renin, aldosterone and ANF levels were measured. Laser therapy was performed under local anesthesia and patients were infused with less than 500 ml saline throughout the procedure. Results: Mean gestational age at inclusion was 21 (18–26) weeks. When amnioreduction < 1000 (0–700) ml (n = 12), HR, mean arterial pressure (MAP), TVR, CO and SV did not vary significantly at 6 and 24 hours. When amnioreduction was above 1000 (1000–3700) ml, n = 25: • HR was stable (ANOVA, p = NS) • MAP (mmHg) decreased from 80.6 ± 8 to 70.4 ± 17 and 74.5 ± 9 (ANOVA, p = 0.01) at 6 and 24 hours, respectively. • TVR (dyn* s* cm-5) decreased from 1520 ± 400 to 1170 ± 300 and 1150 ± 300 (ANOVA, p < 0.0001) at 6 and 24 hours, respectively. • CO indexed (ml/minute* m2) increased from 2693 to 3209 and 3231 (ANOVA p < 0.001) at 6 and 24 hours respectively, due to changes in SV. Patients showed significant hemodilution as early as 6 hours after procedure with a reduction in hematocrit (< 0.0001), plasma proteins (< 0.0001). and Hb levels (< 0.0001) with 1.2 g/dl on average. Simultaneously, renine (p < 0.005) and aldosterone (< 0.005) levels decreased, while ANF levels increased (p < 0.05).

OC3.03: Dilemmas in fetal reduction

followed by spina bifida (17%), ventriculomegaly (13%), hydrocephaly (11%), agenesis of corpus callosum (7%), Dandy–Walker malformation (7%), micro-/macrocephaly (5%), anencephaly (3%) and holoprosencephaly (2%). A total of 31% of pregnancies were terminated, and 5% ended in late spontaneous abortion or intrauterine death. A total of 64% of pregnancies (126/198) resulted in live birth. 8 children died postnatally, 118 are alive. Long-term followup (6 months to 9 years) was available in 77 infants. Psychomotor development was normal or slightly disabled for 56% of children, mostly with mild or isolated lesions. Conclusions: The study covers a large study group and describes a long follow-up period. The prognosis for surviving children depends on their specific anomaly. Overcoming the limitations of scant and controversial data leads to a better counselling of the parents about the likely outcome.

P14.74: Achondroplasia: evaluation of the phenotypic expression by 3D ultrasound

Objective: Formation of the external ear can be impacted by any disruption of its complex embryonic development. Recent clinical evidence suggests the hypothesis that idiopathic fetal growth restriction (IUGR) may be a genetic condition, with a dominant pattern of inheritance. However, no phenotypical signs of idiopathic IUGR are recognizable to dat. Here, we tested the hypothesis that an abnormal ear shape is present in patients with idiopathic IUGR. Methods: A total of randomly selected infants with birth weight < 3rd percentile for gestation, M: 10, F: 15 aged 34.2 + −4.2 weeks; birth weight: 1560 + −644, and 25 birth-weight appropriate gestational-matched controls, M: 14, F: 11 aged 34.4 + −5.0 weeks; birth weight: 2305 + −950 g entered the study. High-resolution photographs of the external ears were obtained for all. The maximum width of longest axis (LA) and shortest axis (SA) of the auricle, were measured. The distance of SA from the lowest auricle point (SA-D) ratio and the SA/LA ratio were used as size-independent indicators of the auricle shape. Results: SA-D ratios were significantly lower in IUGR patients (0.5111 + −0.0066 vs. 0.7270 + −0.0561, p < 0.00001), while SA/LA ratios were significantly higher than those of controls (0.578 + −0.083 vs. 0.5320 + −0.070, P = 0.0058). A receiveroperating characteristic curve analysis indicated that SA-D ratio ≤ 0.5567 identified IUGR subjects with 100% sensibility and specificity. Conclusions: These findings indicate a unrecognized, significant change in shape of the external ear in idiopathic IUGR. Given the visualization of the external ear is achieved in > 90% of the fetuses aged 16–28 weeks by 3-4D-volumetric scan, this new sign can be recognized in utero. It is expected that a more accurate evaluation of the external ear biometry and morphology be of help in the early prenatal diagnosis of idiopathic IUGR.