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The Royal College of Obstetricians and Gynaecologists (RCOG) launched the Each Baby Counts (EBC) project in 2015. The aim of the project is to reduce the number of stillbirths, early neonatal deaths and severe brain injuries in term babies born following labour by 50% by the year 2020. The first full report focussed on the quality of local reviews, fetal monitoring, individual human factors and neonatal care. For this article we have not focussed on the neonatal issues but have summarized the main points from each chapter. The aim of EBC will be achieved by focusing on three themes: (i) improving the quality of reviews of these babies, prompting local units to address their systematic failings that led to the outcome; (ii) development of toolkits and resources to support units to implement the recommendations in the report; (iii) improving care by establishing a platform for shared learning between units in order to adopt a more proactive approach to reducing babies who are harmed during labour.

Although the most recent MBRRACE-UK (Mothers and Babies: Reducing Risk through Audits and Confidential Enquiries across the UK) perinatal mortality report has shown a downward trend in perinatal mortality, the UK still lags behind the best-performing countries in Europe. The burden of perinatal morbidity and mortality is wide-reaching and devastating for the families and care-providers involved. The aim of the Each Baby Counts (EBC) project is to reduce intrapartum term stillbirths, early neonatal deaths, and severe brain injuries by 50% by 2020. Every maternity care provider has been asked to report their intrapartum term stillbirths, early neonatal deaths and severe brain injuries to the EBC project and provide a copy of the local review. The local reviews are assessed by two trained EBC reviewers in order to establish whether the reviews are of adequate quality. The EBC reviewers are asked independently to assess whether there is sufficient clinical information to make a clinical judgement about care, and whether different care could have had a positive impact on the outcome. The reviewers are asked to indicate in what areas care might be improved. The analysis of the local reports will be twofold. Initially quantitative analysis will provide us with information about the scale of the problem, the quality of the local review process into adverse events, and who is involved in such reviews. Qualitative analysis of the themes highlighted in the reviews will enable us to develop care bundles or other tools to drive local quality improvement.

Since its introduction in 1990, preimplantation genetic diagnosis (PGD) has allowed embryo genetic analysis prior to transfer into the uterus during an in vitro fertilisation (IVF) cycle. The commonest indications are for detection of single-gene, X-linked, structural chromosomal and mitochondrial disorders as well as for Human Leucocyte Antigen matching. Traditional cytogenetic and molecular techniques of fluorescent in situ hybridization and polymerase chain reaction are complemented by newer technologies e.g. array comparative genomic hybridization and whole genome amplification. Following a successful PGD cycle, pregnancy complications are comparable to those in standard IVF/intra-cytoplasmic sperm injection (ICSI) cycles, which are mostly related to preterm delivery due to multiple pregnancies. There are similar rates of congenital malformations, neonatal morbidity and developmental outcomes in children born after PGD compared with those born after IVF/ICSI. Clinical outcome data is collected by the Preimplantation Genetics International Society and the European Society for Human Reproduction and Embryology PGD Consortium.

Objectives Conotruncal heart defects (CTD) are associated with del22q11.2 syndrome, which is often diagnosed by fluorescence in-situ hybridization (FISH). However, in those negative for del22q11.2 on FISH, the etiology is usually obscure. We aimed to use high-resolution array comparative genomic hybridization (array CGH) to clarify the underlying genetic causes in these cases. Methods In this retrospective study, fetal samples of amniocytes or fibroblasts, taken either for prenatal diagnosis by amniocentesis or for postnatal survey after termination of pregnancy, were obtained from 45 fetuses with CTD and were investigated by cytogenetic analysis including karyotyping and FISH for del22q11.2 syndrome. Eight fetuses with no findings on karyotyping and FISH were investigated further by array CGH, real-time quantitative polymerase chain reaction (qPCR) and Sanger sequencing of TBX1. Results Array CGH revealed that three of the eight fetuses carried submicroscopic genomic imbalances. Of these, two cases showed similar small microdeletions/duplications in 22q11.2 (one 0.85 kb microdeletion and one 8.51 kb microduplication). The minimal shared region spanned exon 2 of TBX1, a candidate gene responsible for cardiovascular defects in del22q11.2 syndrome. In all eight cases, the array CGH results were confirmed by qPCR, and Sanger sequencing did not detect other molecular pathologies. Conclusion Our findings indicate an association between TBX1 variations and fetal CTD. The results also demonstrate the power of array CGH to further scrutinize the critical gene(s) of del22q11.2 syndrome responsible for heart defects. Array CGH apparently has diagnostic sensitivity superior to that of FISH in fetuses with CTD associated with del22q11.2 (and dup22q11.2) syndrome. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

Fetal anaemia can by treated by in-utero therapy, which results in a significant improvement in perinatal outcome. The important causes of fetal anaemia are rhesus alloimmunisation, kell alloimmunisation and parvovirus infection. At-risk pregnancies require serial monitoring to ensure timely intervention with intrauterine transfusion. Non-invasive testing with middle cerebral artery Doppler is becoming the monitoring modality of choice.

Objectives To study the role of selected cytokines and growth factors involved in the pathogenesis of fetal chylous pleural effusion. Methods Seventeen fetuses with prenatal chylothorax at gestational age (GA) 17–29 weeks were enrolled as the study group during the period 2003–2005. Their pleural effusion (n = 17) and amniotic fluid (n = 17) were drawn when disease set in. Eleven fetuses received cordocentesis because of suspected fetal anemia. Forty-one normal fetuses without adverse perinatal outcome at GA 17-29 weeks received amniocentesis and were enrolled in the reference group. Levels of hepatocyte growth factor (HGF), stromal-derived factor-1(SDF-1), vascular endothelial growth factor (VEGF), interleukin-8 (IL-8), macrophage migratory inhibition factor (MIF), and interleukin-6 (IL-6) were determined in the samples from both groups (amniotic fluid, pleural fluid, and cord blood from the study group and amniotic fluid from the reference group) by enzyme-linked immunoassay (EIA). Results No significant differences were observed in the amniotic fluids between the study group and the reference group regarding levels of IL-6, IL-8, MIF, SDF-1, HGF and VEGF. In the study group, levels of IL-8, VEGF and SDF-1 (all pro-angiogenic) showed no significant differences between the amniotic fluid, cord blood and pleural effusion. The level of HGF (proangiogenic) was significantly higher in the amniotic fluid than in the cord blood or the pleural effusion, but there were no significant differences between the levels in the pleural fluid and in the cord blood. Interestingly, the levels of MIF and IL-6 (both are proinflammatory) in the amniotic fluid and in the pleural effusion were much higher than the levels in the cord blood. Conclusion Our study demonstrated that the levels of pro-inflammatory proteins (MIF and IL-6) that we tested were higher in the fetal pleural effusion than in the fetal circulation, a phenomenon not observed in the levels of proangiogenic proteins (HGF, SDF-1, VEGF, IL-8). This result implies that inflammation-related proteins may be more relevant than the angiogenesis-related proteins in the local environment of accumulating pleural effusion, a prominent feature of prenatal chylothorax. Copyright © 2007 John Wiley & Sons, Ltd.

Objective: To evaluate the efficacy and safety of aggressive management of oligohydramnios. Methods: Forty women with oligohydramnios (< 30 complete weeks), either because of preterm premature rupture of membranes or with intact membranes, were prospectively enrolled in this study. Eleven women were assigned to the treatment group and 29 to the control group. Transabdominal amnioinfusion was performed with warm Ringer's lactate or normal saline in all 11 patients in the treatment group. In addition, cerclage was performed in patients with ruptured amniotic membranes. Amniopatch was used to salvage a patient with immediate amniorrhea (< 6 hours) after the above procedures. Results: Nine of the 11 patients prolonged their pregnancy for at least 3 weeks (81.8%), while all 29 patients in the control group delivered their babies within 3 weeks of diagnosis of oligohydramnios (p < 0.05). Signs of maternal infection were noted in two patients in the treatment group (18.2%). The newborns of eight patients in the treatment group survived beyond 1 month (72.7%), whereas this occurred in only six control patients (20.7%; p < 0.05). Conclusion: Aggressive management seemed to provide prolongation of pregnancy compared with no treatment. Amniopatch salvaged the immediate amniorrhea in our patient.

Fetal chylothorax (FC) is a rare condition characterized by lymphocyte-rich pleural effusion. Although its pathogenesis remains elusive, it may involve inflammation, since there are increased concentrations of proinflammatory mediators in pleural fluids. Only a few hereditary lymphedema-associated gene loci, e.g. VEGFR3, ITGA9 and PTPN11, were detected in human fetuses with this condition; these cases had a poorer prognosis, due to defective lymphangiogenesis. In the present study, genome-wide gene expression analysis was conducted, comparing pleural and ascitic fluids in three hydropic fetuses, one with and two without the ITGA9 mutation. One fetus (the index case), from a dizygotic pregnancy (the cotwin was unaffected), received antenatal OK-432 pleurodesis and survived beyond the neonatal stage, despite having the ITGA9 mutation. Genes and pathways involved in the immune response were universally up-regulated in fetal pleural fluids compared to those in ascitic fluids. Furthermore, genes involved in the lymphangiogenesis pathway were down-regulated in fetal pleural fluids (compared to ascitic fluid), but following OK-432 pleurodesis, they were up-regulated. Expression of ITGA9 was concordant with overall trends of lymphangiogenesis. In conclusion, we inferred that both the immune response and lymphangiogenesis were implicated in the pathogenesis of fetal chylothorax. Furthermore, genome-wide gene expression microarray analysis may facilitate personalized medicine by selecting the most appropriate treatment, according to the specific circumstances of the patient, for this rare, but heterogeneous disease.

To bring conformity at a national level, the UK National Screening Committee integrated different screening programmes into three main domains, each reflecting the stages of the health screening lifecycle. These domains are the fetal, maternal and child health group, the adult screening and cancer screening programmes. High-quality guidance, specifically policy and programme standards, is a necessity for trusts offering a screening service and, for easy access. There is much commonality between the Down syndrome screening and fetal anomaly screening programme standards, in that good screening programmes need a central coordinating group. In understanding the complexities of the woman's journey through the Down syndrome and ultrasound screening system, a number of care pathways have been produced. Since 2001, a succession of national audits has been undertaken that have proved fruitful in terms of improving services. The past 30 years have seen astonishing advances in antenatal screening.

Fetal alloimmune thrombocytopenia (FAITP) is a condition associated with significant infant morbidity and mortality. We report on the West of Scotland experience of 30 pregnancies complicated by FAITP over a 17-year period (1982-98). Management options included serial cordocentesis together with platelet transfusion, and maternal intravenous gammaglobulin (IVIgG) therapy. Of those pregnancies managed by serial cordocentesis all had poor outcomes. Weekly IVIgG was administered to the remaining pregnancies, all of which had a good outcome although four infants were thrombocytopenic at birth. None of these cases had previously been complicated by intracranial haemorrhage. In the milder end of the spectrum of FAITP we would suggest that IVIgG is an alternative treatment option.

Introduction Mild intracranial ventriculomegaly (VM) is a common finding during routine and detailed anomaly scanning. It can be associated with congenital infection, aneuploidy, cerebral vascular insults and additional fetal abnormalities. It can also be of no pathological significance when found in isolation and therefore presents a diagnostic challenge to clinicians. Studies have shown that fetal MRI provides further important information in 6–10% of cases. The authors sought to examine the role of fetal brain MRI in our population. Methods The authors conducted a retrospective case review of fetal brain MRIs for isolated mild VM since November 2007. The aim was to determine (1) if MRI confirmed US findings, (2) if there were any additional abnormalities seen on MRI and (3) if additional MRI information altered parental counselling. Results 15 cases with known neonatal/postmortem outcomes fitted the criteria. MRI confirmed VM in 14 cases. No additional brain abnormalities were found on MRI however severe VM was identified in four cases. MRI altered counselling and parental choice in two cases; both opted for termination of pregnancy following reported severe VM on MRI. Postmortem identified a posterior fossa meningeal cyst in one case and an acardiac twin in the other, neither were diagnosed on antenatal US or MRI. Antenatal detection of lobar holoprosencephaly by either modality was missed in one case of mild VM. Conclusion In our small group of patients, MRI was useful in identifying severe VM in four cases (26%) and changed parental choice in two cases (13%).

Parvovirus B19 infection can result in an adverse outcome when acquired during pregnancy. However, in the majority of cases a successful outcome can be anticipated. Public awareness of this condition is essential and obstetricians should be familiar with the options available to them if they are presented with this clinical problem.

Intrauterine transfusion (IUT) cases for Parvovirus B19 infection over 2002–2011 were reviewed. Our unit receives referrals from Scotland and Northern Ireland. Most were referred in 2008 ( n = 5) and 2009 ( n = 7). In other years there were Thirty patients underwent 48 IUTs (mean 1.6, range 1–3). Twenty-six fetuses had middle cerebral artery Doppler peak systolic velocity values documented. All were >1.5 multiples of median prior to first IUT. At initial assessment, 25 fetuses were hydropic and 4 had ascites. Pre-IUT haematocrit value was available in 27 pregnancies: n = 13) followed by 17–20 weeks gestation ( n = 9) (range 17–32 weeks). Intrauterine or neonatal death occurred in 9 hydropic fetuses that had bradycardia, thrombocytopenia, difficult procedure or severe anaemia. No reasons were identified in 2 cases. However, these did not have pre-transfusion haematocrit values. Seven procedures had other complications e.g. cord haematoma, technically difficult, bradycardia and spontaneous rupture of membranes. This pregnancy was conservatively managed with a live birth at 36 weeks gestation. Live births occurred in 14 pregnancies. Seven women were lost to follow-up. Improved capture of outcome data is required. Short term outcomes were available in 8 neonates: 6 required no treatment, 1 had phototherapy and 1 had a neonatal death. We conclude that poor outcomes following IUT can be predicted at the time of procedure and that IUT can rescue a fetus destined for intrauterine loss to a healthy outcome.

Scottish intrauterine transfusion (IUT) cases for severe Rhesus isoimmunisation over 2002–2011 were reviewed. One hundred and forty-one pregnancies underwent 437 IUTs (mean 3.09, range 1–8). One hundred and thirty-one fetuses had middle cerebral artery Doppler peak systolic velocity values documented. All were >1.5 multiples of median prior to the first IUT, except for one that was inactive with a pericardial effusion. Twelve fetuses were hydropic. The haematocrit value prior to initial IUT was 20–29% in 38% of cases, whilst 27% had a haematocrit between 10–19%. Initial IUT was most commonly performed between 29–32 weeks gestation (35%) followed by 25–28 (26%) and 21–24 (21%) weeks gestation (range 17–25 weeks). In the majority of cases, fetus was transfused via umbilical vein (80%). Fourteen percent of transfusions were performed intrahepatically, 3% intraperitoneally and 3% were undocumented. Complications occurred in 58 (13%) IUTs and include cord haematoma, difficult procedure, bradycardia or tachycardia necessitating unplanned delivery, and in utero death (5 fetuses). The procedure-related loss rate was 1%. Birth outcomes were documented in 108 cases with a 94% live birth rate (n = 102). One patient underwent termination of pregnancy for trisomy 21. Short term postnatal outcomes were available for 86 neonates: 33 neonates required phototherapy only, with 31 cases requiring top-up transfusions. Nine neonates had an exchange transfusion and 9 had immunoglobulin or erythropoietin. Four neonates did not require any treatment. We conclude that our live birth and procedure-related loss rates are consistent with other published series. Parents need to be aware of potential postnatal therapies.

Fifty-five fetuses with pleural effusion were seen in our unit over last 9 years. Twenty-six cases (47%) did not have associated anomaly and were of uncertain aetiology. Twelve (22%) had associated structural anomalies without evidence of abnormal karyotypes. Cardiac anomalies were most common, while abnormalities in brain, kidneys and bones were also seen. Twelve fetuses had abnormal karyotypes (Trisomy 21 and Turner9s syndrome), 2 had parvovirus B19 and 1 had listeria. One fetus had supraventricular tachycardia and another had cardiac rhabdomyomas. There appears to be some seasonal trend for pleural effusions in those uncertain aetiology (n=26). They presented most frequently in November, October and July. Proven parvovirus cases (n=2) presented in June and October. Overall, 15/55 (27%) had termination of pregnancy: 5 had hydrops and 10 had associated anomalies. Four patients (7%) were delivered shortly after presentation whilst 21 (38%) had conservative sonographic surveillance. Three IUDs occurred in this group, 2 due to worsening hydrops or rhabdomyomas at 28 weeks and 1 was unexplained at 35 weeks despite postmortem examination. Eight patients (15%) were lost to follow-up. Fifteen cases underwent fetal therapy i.e. pleuro-amniotic shunt, pleural tap, intrauterine transfusion (IUT) or maternal flecainide. Of these, 2 losses occurred post IUT and the remainder had live births or were discharged to referring hospitals for follow-up. We conclude that in the absence of karyotypic or structural anomalies, fetal pleural effusion can have good outcomes with live births as in 36% (20/55) of our cohort.

Current health policy encourages the use of rapid trisomy testing rather than full karyotype analysis. We compared the results of QF-PCR with full karyotyping via a retrospective audit. Between 01/11/09 and 31/10/11, 1726 CVS or amniocentesis samples from prenatal diagnostic procedures were received in the regional genetics laboratory which serves a population of 3 million. Main referral reason was due to abnormal scan (52%), followed by increased risk at second trimester screening (31%). Family history of chromosomal anomalies (7%) and maternal age (5%) were less common indications. Three cases had inadequate sample for culture, 1 failed culture and 1 was not set up. Abnormal karyotype was seen in 181 samples: 71% of abnormalities were correctly identified at the time of QF-PCR. Approximately 50% had trisomy 21, 25% had trisomy 18 and the remainder had Turner9s syndrome, 69 XXX, or trisomy 13. In 51 cases, QF-PCR did not detect the abnormality seen at full karyotyping. Of these, 16 cases had balanced translocation or inversion and 15 had normal ultrasound examinations. Thirteen had unbalanced changes and 10 of these also had abnormal scans. Due to referral reasons (e.g. maternal age or biochemical screening), sex chromosomes were not always examined at QF-PCR. Fourteen cases of XO / XXX / XXY were missed. There were 4 samples with mosaicism but only 1 case also had an abnormal scan. Valuable additional information can be obtained by full karyotyping. However, in those with severe chromosomal abnormalities, structural anomalies are often seen on ultrasound examination.

During 2010, we compared performance of first versus second trimester Down9s syndrome screening in 2 hospitals 4 miles apart, serving the same population in West of Scotland. As the same regional genetics laboratory is used by both hospitals, confounding factors are avoided. In hospital 1, 2728 patients were screened in first trimester using NT measurement, HCG and PAPP-A. Ninety-three patients were screen positive and the 3 actual cases of Down9s syndrome were from this group. Therefore, there is 100% sensitivity, 97% specificity, 3.4% false positive and 3.4% screen positive rates. The screening programme in hospital 2 utilised quadruple markers (AFP, HCG, Inhibin A and unconjugated oestriol) in second trimester. Overall, 3803 patients were screened and 195 patients were deemed high risk. There were 11 actual cases of trisomy 21, 8 were screen positive and 3 screen negative. This gives 73% sensitivity, 95% specificity, 5.1% false positive and 5.1% screen positive rates. As this is a small retrospective audit with few cases of Down9s syndrome, it is difficult to accurately compare first and second trimester screening. Literature suggests 92% and 80-85% sensitivity for first trimester and quadruple testing, respectively. Our results show that first trimester screening has a significantly better detection rate than second trimester screening. Although first trimester screening is recommended by National Pregnancy Screening Programme, its implementation has been hampered by lack of sonographers trained in NT assessment. Furthermore, quality control is more difficult in first than in second trimester as sonographer variations are more common than laboratory inconsistencies.

Introduction Congenital diaphragmatic hernia (CDH) has an incidence of 1 in 2500 and around 30% of babies with isolated CDH die from pulmonary hypoplasia. There have been several techniques describing prediction of postnatal outcome in antenatally diagnosed isolated CDH based on the estimation of residual lung capacity by US and MRI. Recently, the observed to expected lung head ratio (O/E LHR) has been validated as a reliable method of lung estimation by 2D ultrasound and is a marker of postnatal morbidity and mortality.1 The authors sought to determine if the O/E LHR predicts survival in our West of Scotland population. Methods The authors conducted a retrospective analysis of antenatally diagnosed isolated left-sided CDH cases referred to the Ian Donald Fetal Medicine unit, Queen Mother9s Hospital, Glasgow from 2002 to 2009. Results 58 patients had an antenatal diagnosis of isolated fetal left-sided CDH, lung head ratios were available for 25 cases. The mortality was 29%, none of these patients underwent in utero fetal tracheal occlusion. There was no significant difference in conventional LHRs between the neonates that survived (n=18) and those that did not (n=7), p=0.11. Using the O/E LHRs however the neonates that survived had a significantly higher O/E ratio than those that did not (p=0.03). The liver position (being in the fetal chest or abdomen) did not affect the O/E ratios in the group of survivors (p=0.26) or non-survivors (p=0.44). Conclusion The authors have shown that the O/E LHR is a good predictor of mortality in our population of antenatally diagnosed CDH.

The prenatal diagnosis of a presacral (type IV) sacrococcygeal teratoma (SCT) is described. The initial ultrasound appearance was suggestive of a lower urinary tract obstruction, but further ultrasonic examination and radiological imaging using contrast medium led to the diagnosis of SCT. This is the first prenatal diagnosis of a totally intra-abdominal SCT.

Objectives: The primary objective is to determine whether intrauterine vesicoamniotic shunting for fetal bladder outflow obstruction, compared with conservative, noninterventional care, improves prenatal and perinatal mortality and renal function. The secondary objectives are to determine if shunting for fetal bladder outflow obstruction improves perinatal morbidity, to determine if improvement in outcomes is related to prognostic assessment at diagnosis and, if possible, derive a prognostic risk index and to determine the safety and long-term efficacy of shunting. Design: A multicentre randomised controlled trial (RCT). Setting: Fetal medicine units. Population: Pregnant women with singleton, male fetus with isolated lower urinary tract obstruction (LUTO). Methods: Following ultrasound diagnosis of LUTO in a male fetus and exclusion of other structural and chromosomal anomalies, participation in the trial will be discussed with the mother and written information given. Consent for participation in the trial will be taken and the mother randomised via the internet to either insertion of a vesicoamniotic shunt or expectant management. During pregnancy, both groups will be followed with regular ultrasound scans looking at viability, renal measurements and amniotic fluid volume. Following delivery, babies will be followed up by paediatric nephrologists/urologists at 4-6 weeks, 12 months and 3 and 5 years to assess renal function via serum creatinine, renal ultrasound and need for dialysis/transplant. Main outcome measures: The main outcome measures will be perinatal mortality rates and renal function at 4-6 weeks and 12 months measured via serum creatinine, renal ultrasound and need for dialysis/transplant. Funding: Wellbeing of Women. Estimated completion date: September 2010.