Report on the 11^th World Congress in Fetal Medicine, 24–28 June 2012, Kos, Greece

The World Congress in Fetal Medicine, a meeting organized by Professor Kypros Nicolaides, has established itself as the foremost international conference in fetal medicine. This year it was held on the island of Kos in Greece, the birth place of Hippokrates, and was attended by 1500 delegates. At a total cost of €400, which according to Kypros will not change for as long as he lives, the 12 hour-per-day 5-day program included over 150 lectures with extensive discussions and exciting social activities. The meeting kicked off with a workshop entitled ‘Born after ART: from the laboratory to the delivery room’, organized by Serono Symposia International Foundation. An outstanding review of ‘Preimplantation screening and diagnosis’ was presented by Dr Dagan Wells from Oxford, UK. He presented promising evidence that new approaches to preimplantation genetic screening (PGS), including biopsy of several cells at the blastocyst stage and use of microarray comprehensive genomic hybridization, provide accurate diagnosis with less risk of misdiagnosis due to mosaicism. Dr Wells suggested that PGS should be applied to all embryos to improve pregnancy outcome and reduce the rate of multiple pregnancies. Dr Antonio Pellicer from Spain reported that oocyte donation is a successful technique for patients with a low chance of pregnancy and that delivery rates can be as high as 97%. These rates are better when blastocysts are replaced and the results are similar with use of fresh or vitrified oocytes. Prognostic factors include the donor's age and the quality of the sperm. Maternal age over 45 years is associated with reduced chances of implantation. According to the available evidence, fibroids and endometriosis do not affect the outcome, but adenomyosis is associated with increased miscarriage rates. Pregnancies conceived using egg donation have a higher risk of obstetric complications, including pre-eclampsia (PE), fetal growth restriction (FGR) and postpartum hemorrhage. This session was followed by the Eurofoetus scientific meeting on fetal therapy. A wide range of topics was discussed, including intrauterine blood transfusion for fetal anemia, endoscopic laser surgery for twin-to-twin transfusion syndrome (TTTS) and selective FGR, endoscopic endotracheal placement of a balloon for severe congenital diaphragmatic hernia (CDH), vesicoamniotic shunting for obstructive uropathy, thoracoamniotic shunting for pleural effusions and fetal surgery for open spina bifida, either by hysterotomy or endoscopically. Irene Lindenburg from the Netherlands presented the results of the long-term follow-up after intrauterine transfusion (LOTUS2) study. The incidence of neurodevelopmental impairment was 7.3% and independent predictors of poor outcome were hydrops, severe neonatal morbidity and parental education. The incidence of cerebral palsy was 1.1%, which is comparable to that in the general population. Rohan D'Souza discussed pediatric outcome after pleuroamniotic shunting. In this study 64% of the fetuses shunted survived and 79% of these had normal neurodevelopment. Adverse outcomes were associated with late referral and delivery at an outside center. It was recommended that cases with pleural effusion should be tested for Noonan syndrome. Jacques Jani presented new data on the liver to thoracic cavity volume ratio (LITR) in CDH. He suggested that, rather than categorical use of intrathoracic position of the liver, LITR should be integrated in the prenatal decision-making for fetuses with CDH. A study on stomach position was presented by Anne Gael Cordier from Belgium. She concluded that in left-sided CDH, stomach grading is a simple and reproducible method for indirect evaluation of intrathoracic liver position. She proposed that stomach position might be an independent marker for prediction of postnatal survival in CDH. David Baud from Canada presented his group's experience of minimally invasive fetal therapy for massive hydropic bronchopulmonary sequestration. There were no survivors among cases which did not have fetal therapy. Several minimally invasive therapeutic options are available and feasible, for example laser coagulation, but the optimal fetal therapy is still to be determined. The results of the management of myelomeningocele study (MOMS) were presented by Alan Flake from the USA. He felt that open surgery is currently the best available approach, but expressed concerns regarding the performance of such surgery by less experienced centers as maternal and fetal outcomes are likely to be compromised. He suggested that the future is likely to lie in tissue engineering. On the other hand, promising results were presented by Roland Axt-Fliedner from Germany. In a case–control study comparing outcome following fetoscopic repair of myelomeningocele and following standard postnatal treatment, he demonstrated a neuroprotective effect of the prenatal approach upon both muscle integrity and neurological motor and sensory function. Results of the randomized study on percutaneous shunting in lower urinary tract obstruction (PLUTO) were presented by Katie Morris from the UK. Unfortunately, the trial stopped early due to poor recruitment. Shunting was associated with a trend towards improved perinatal survival, but with an increased risk of pregnancy loss. The evidence for improvement of renal function was inconclusive. Divyesh Desai from the UK reported on the long-term outcome of fetuses with posterior urethral valve and the possible impact of PLUTO on outcome. He pointed out that normal amniotic fluid in male fetuses with features of lower urinary tract obstruction (LUTO) is not predictive of renal function at 1 year of age. He also proposed a randomized controlled trial (RCT) assessing the use of a percutaneous shunt in LUTO, with renal and bladder function as the outcomes. Dominique Luton presented preliminary results of the first RCT of amnioexchange in fetuses with gastroschisis. He concluded that the initial results are disappointing and that amnioexchange might also be associated with an increased risk of stillbirth. Case reports of new applications of fetoscopy in upper airway obstruction, ventriculocystostomy for increasingly compressive interhemispheric arachnoid cyst and bag placement in cases with gastroschisis were presented by Eduard Gratacos, Yves Ville and Kurt Hecher, respectively. Several lectures were presented by leading pediatric surgeons. Stefan Berge from the Netherlands discussed the surgical options for skull deformities, such as primary and secondary craniosynostosis, and the management of oropharyngeal and neck masses. Agostinho Pierro from London discussed postnatal and long-term management of anterior wall defects. A study by his group suggests that the absence of fetal bowel dilatation in gastroschisis excludes intestinal atresia. However, the sensitivity and specificity are poor. He also presented his experience with staged neonatal repair in cases of major exomphalos, highlighting its advantages, for example reduced hospitalization, avoidance of systemic toxicity and secondary operation for ventral hernia. Another talk by Agostinho Pierro focused on the postnatal management of necrotizing enterocolitis (NEC). He presented the randomized controlled Stoma Anastomosis Trial (STAT), which compares intestinal resection with stoma formation vs intestinal resection with primary anastomosis. He also presented a pilot study which suggests that cooling infants with NEC to as low as 33.5 °C for 48 hours appears feasible and safe. Several presentations provided new data on the best management of monochorionic (MC) twin pregnancies and the associated complications. Jeanine van Klink from the Netherlands presented favorable preliminary results on long-term neurodevelopment in cases of selective termination in MC pregnancies. Greg Ryan from Canada presented an overview of the various practices of twin delivery in different parts of the world and the controversies in management of cases of cotwin death. Liesbeth Lewis presented data suggesting that mortality is higher in MC twin pregnancies following assisted conception than in those conceived spontaneously. Kurt Hecher presented data on the effect of experience on the outcome of laser treatment for TTTS. While the overall survival rate after 1000 laser procedures was 80%, 70% of pregnancies had two survivors and 90% had one or more survivors. Data on neurological outcome after laser treatment for TTTS suggest that the increased survival rates do not lead to increased disability rates in survivors. Liesbeth Lewi reported that persistent anastomoses following laser surgery are common, leading to recurrence of TTTS and twin-anemia-polycythemia sequence. Ahmet Baschat recommended complete visualization of the vascular equator and coagulation of the entire chorionic plate to decrease the recurrence of TTTS. He presented data showing that equatorial dichorionization is associated with higher 6-month survival rates. Eduard Gratacos described the pathophysiology and clinical forms of selective FGR in monochorionic diamniotic (MCDA) twin pregnancies and reported that abnormal umbilical artery Doppler findings are associated with a poor prognosis. Active management improves the outcome of the larger twin, but worsens that of the smaller one. The decision is a balance between severity, parents' wishes and technical issues. He concluded that an RCT is unlikely to change current clinical practice. Reference ranges for amniotic fluid according to gestational age in MCDA twin pregnancies were presented by Philip DeKoninck from Belgium. He reported that the deepest vertical pocket is gestational-age dependent, with a gradual increase reaching a peak at 26 weeks. The findings of this study support the use of the European cut-offs to define polyhydramnios in the recipient twin. Ozhan Turan from the USA presented a small study on fetal cardiovascular parameters for prediction of outcome after fetoscopic treatment in cases with TTTS. He reported that these cardiovascular parameters did not improve prediction in either the recipient or the donor. Yves Ville proposed a new method for mapping the vascular equator prior to laser surgery as well as reporting preliminary findings of a study on the use of Foley's catheter to prevent iatrogenic membrane rupture following laser treatment in TTTS. He also presented data on brain lesions, including atrophy, schizencephaly, periventricular leukomalacia, intraventricular hemorrhage and ischemia, seen in fetuses following laser treatment for TTTS. On the third day, the International Society for Prenatal Diagnosis chaired an extremely successful workshop on molecular techniques for both invasive and non-invasive prenatal diagnosis (NIPD). Rossa Chiu from Hong Kong presented an excellent overview of NIPD. Her group, led by Dennis Lo, carried out pioneering studies in this field. The key points summarized were that NIPD of fetal sex, Rhesus status and common chromosomal aneuploidies is now possible and the principles of NIPD for single gene disorders and for fetal genome assembly have already been established. Several commercial companies currently involved in NIPD, including Ariosa Diagnostics, Beijing Genome Institute, LifeCodexx, Natera, NIPD Genetics, Sequenom and Verinata, presented their results from the clinical implementation of NIPD of aneuploidies. This was followed by an animated discussion during which the presenters faced a barrage of stimulating questions from the audience. Several issues were raised, including the following: how to achieve better, more accurate, cheaper sequencing; selective use of the most informative sequences; and how to perfect a faster process with lower failure rates. The perspective of patients and healthcare professionals was presented by Lyn Chitty from the UK and the discussion was led by Howard Cuckle. Ron Wapner from the USA presented the results of the NIH study on the use of microarrays in the investigation of amniocentesis and chorionic villus samples and argued that the high incidence of clinically significant abnormalities may lead to a need to offer invasive testing rather than NIPD to a much larger proportion of the population. In his cohort, 17% of euploid pregnancies had copy number variance (CNV) not detectable by karyotyping; of which 60% would not be detected by 22q fluorescent in situ hybridization. He concluded that, if available, microarray should be the first-tier test for evaluation of fetal structural anomalies. This would potentially lead to increased genomic information on causes of birth defects and provide a cost-effective service. Rabih Chaoui presented an elegant review of genetic abnormalities in cardiac defects, including Di George, Williams-Beuren (del 17q11), Noonan and CHARGE syndromes and tuberous sclerosis complex. He also shared his own protocol for investigating cases of fetal cardiac defects; he routinely performs karyotyping and testing for 22q11 deletion. Increasingly, he tests for del 17q11 in cases with defects affecting the left ventricle outflow, del 1p36 if there are additional findings and del 4p (Wolf–Hirschhorn syndrome) if the fetus has FGR with facial dysmorphism. After genetic counseling, targeted investigations for monogenic disease, e.g. Noonan syndrome, or array comparative genomic hybridization (aCGH) can be offered. Lyn Chitty presented molecular diagnosis of fetal skeletal anomalies. She shared her NIPD experience in achondroplasia and thanatophoric dysplasia. She also suggested alternative approaches, in particular next-generation sequencing and gene panels, for example Sanger sequencing to screen 54 exons of the COL21A gene (osteogenesis imperfecta, kneist, spondyloepiphyseal dysplasia congenita and achondrogenesis) and a panel covering multiple mutations in the FGFR3 gene (achondroplasia, thanatophoric dysplasia and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)). Eugene Pergament from the USA proposed that aCGH should be applied in all cases of brain malformation detected in the first trimester. He demonstrated the additional value of aCGH through real-time examples and showed that in central nervous system abnormalities its use can increase the detection rate by 7%. Richard Choy from China presented the results of the multicenter study, ‘Detection of chromosomal copy number variants by aCGH among fetuses with increased nuchal translucency’ (NT) and reported an extra 3.3% yield compared with karyotyping for diagnosing submicroscopic chromosomal abnormalities in fetuses with increased NT. Howard Cuckle emphasized the need for ‘conceptual change’ in carrier screening. Matthew Rabinowitz from the USA presented on high throughput carrier screening. He proposed that genetic testing is more than just testing and stressed the importance of pre- and post-test patient education. Sylvie Langlois from Canada presented promising results on the validation of a novel approach for assessing Fragile X syndrome locus repeats that is applicable to population carrier screening. The assay was amenable to high throughput, with quick turnaround time, and had high sensitivity for permutations and full mutations. On the same day, Rabih Chaoui and Simcha Yagel held a comprehensive course on fetal echocardiography, which kept the audience in the conference center and away from the dangers of swimming in the sun! On the fourth day Eugene Pergament led with an overview of the ‘Big Bang’ theory of the origin of increased NT. He argued that increased NT is a common endpoint of a diverse number of genetic and developmental disorders as a consequence of defects in neural crest cells in terms of their movement, differentiation and regulation. Therefore, it is anticipated that there may be multiple etiologies giving rise to increased NT. Jiri Sonek from the USA discussed the impact of Fetal Medicine Foundation (FMF) accreditation status and operator experience on NT distributions in the USA. As expected, FMF accredited sonographers outperform non-FMF accredited and sonographers with experience outperform those with less from Spain reported the results of implementation of screening in Her group detected of cases of syndrome and of other aneuploidies at a rate of from reported that of growth in screening improved the detection rate of by from Canada showed that of and the performance of screening. from Spain presented data on the use of for for major improvement of screening for aneuploidies. She showed that there are two distributions of of the one which is and that is There followed on screening. The first was presented by from on the to ratio in a population and concluded that this ratio is unlikely to improve on the currently showed that the to ratio is a marker of and suggested that this ratio should be the reported that the ratio is the in of fetuses with from reported the results of a randomized study that there was no significant in perinatal outcome after amniocentesis using a vs a The session on the fourth day was to The session with a talk on of obstetric using by from in using and he concluded that its use reduced the risk of FGR, birth and perinatal death. This effect was more in the severe and forms of focused on the prenatal seen in from Spain demonstrated that FGR fetuses different of brain smaller brain and and more these developmental are associated with The was presented by from the same group and showed results of the prenatal prediction of postnatal cardiovascular risk due to FGR using fetal from Spain presented the results of an RCT to artery Doppler screening at to improve maternal and perinatal outcome She reported that the use of artery Doppler followed by targeted to an improvement in maternal or neonatal complications. She also presented novel data on the change in artery Doppler between the first and third She reported that artery Doppler was a better of and FGR than was artery She also showed that in patients was associated with a decrease in artery Doppler towards the third and that independent of vascular This was followed by a study on the prediction of at presented by from the UK. 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The were that of fetuses with increased NT and normal have a poor perinatal outcome. However, if the and no there is a high chance of a favorable outcome. syndromes with developmental delay may in of aCGH in cases with NT an extra of Noonan syndrome, with but favorable is the most monogenic syndrome Dr was to additional testing to Noonan syndrome and in cases of clinical and to the the neurodevelopmental outcome of normal fetuses after increased in the Rabih Chaoui argued that the in to screening for chromosomal should be a comprehensive early He demonstrated through examples that are detectable and proposed an management from the UK the of artery Doppler in and FGR in a of pregnancies. 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She demonstrated that visualization of the and the was possible in over 90% and of respectively. 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