Heather Hughes's research while affiliated with National Maternity Hospital and other places

Objectives: Fetal ventriculomegaly is associated with varying degrees of genetic and structural abnormalities. The objective was to present the experience of fetal ventriculomegaly in a large European centre in relation to; 1.Grade of ventriculomegaly; 2.Additional chromosomal/structural abnormalities and 3.Perinatal survival rates. Methods: This was a prospective observational study of patients referred with fetal ventriculomegaly from January 2011 to July 2020. Data were obtained from the hospital database and analysed to determine the rate of isolated ventriculomegaly, associated structural abnormalities, chromosomal/genetic abnormalities, and survival rates. Data were stratified into three groups; mild(Vp=10-12mm), moderate(Vp=13-15 mm) and severe(Vp >15mm) ventriculomegaly. Results: There were 213 fetuses included for analysis. Of these 42.7% had mild ventriculomegaly, 44.6% severe and 12.7% had moderate ventriculomegaly. Initial ultrasound assessment reported isolated ventriculomegaly in 45.5% fetuses, with additional structural abnormalities in 54.5%. The rate of chromosomal/genetic abnormalities was high,16.4%. After all investigations, the true rate of isolated VM was 36.1%. The overall survival was 85.6%. Survival was higher for those with isolated VM across all groups(P<0.05). Conclusion: Ventriculomegaly is a complex condition and patients should be counselled that even with apparently isolated VM, there remains the possibility of additional genetic and/or structural problems being diagnosed in up to 10% of fetuses.

(Abstracted from Fetal Diagn Ther 2021;48:575–581) Down syndrome (DS) or trisomy 21 (T21) is characterized as the presence of a third copy of chromosome 21. The rate of DS increases with maternal age, and it is the most common aneuploidy in live-born infants.

Objective Hemolytic disease of the fetus and newborn is characterized by fetal anemia, secondary to maternal alloantibody-mediated fetal erythrocyte destruction. Despite our reliance on intrauterine blood transfusion (IUT) to maintain severely affected pregnancies, it remains difficult to predict the fetal response to an infusion of donor blood. Our objective was to determine the daily rate of decline in fetal hemoglobin following one, two, and three transfusions. We also evaluated the relationship between the fetal hemoglobin level and the corresponding doppler measurement of the fetal middle cerebral artery peak systolic velocity (MCA-PSV). Study Design A prospective observational study of all singleton pregnancies treated with intrauterine transfusion for fetal anemia secondary to maternal alloimmunization at the National Maternity Hospital, a tertiary referral centre, was conducted over a 10-year period (2011-2020). Demographic and clinical data was obtained from the electronic patient records. Ethical approval was granted by the Ethics and Research Committee of the National Maternity Hospital. Results A total of 90 intrauterine blood transfusions were performed in 41 fetuses affected by maternal alloimmunization, of which 70% (n =29), 34% (n =14) and 15% (n=6) required a 2nd, 3rd, and 4th transfusion, respectively. The mean rate of decline in fetal hemoglobin following the first transfusion was 0.4g/dl/day (range, 0.12 – 0.64g/dl/day). The mean rate of decline was lower after repeat transfusions at 0.27g/dl/day (range, 0.16 – 0.45g/dl/day). The sensitivity of MCA-PSV threshold of 1.5 Multiples of the Median (MoM) to detect moderate-severe anaemia declined with rank of IUT, from 82% after one previous transfusion, to 75% after two or more previous transfusions. No fetal mortality was seen in our series. Conclusion Knowledge of the expected rate of decline in fetal hemoglobin following an IUT aids in the determination of appropriate timing of subsequent transfusions in a fetus affected by red cell alloimmunization. We observed a reducing rate of daily decline in hemoglobin in fetuses requiring successive transfusions. Our findings suggest a reduced accuracy of the MCA-PSV threshold of 1.5 MoM in determining the optimal timing of 2nd, 3rd, and 4th transfusions.

Introduction: Severe fetal ventriculomegaly (VM) is defined as an enlargement of the atria of the lateral cerebral ventricles (Vp) of greater than 15 mm. While it is well established that it confers significant risk of morbidity and mortality to the neonate, there is limited information pertaining to the caesarean delivery rates and the obstetric management of these complex cases. The aim of this study was twofold: firstly, to determine survival rates in fetuses with severe VM, and secondly to determine the caesarean delivery rates in continuing pregnancies. We explore the obstetric challenges associated with these difficult cases. Methods: This was a prospective observational study of patients with antenatal severe VM, attending the Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland, from 1st January 2011 to 31st July 2020. Data were obtained from the hospital database and those with severe VM (Vp > 15 mm) were identified. The rates of chromosomal abnormalities, the survival rates and the caesarean delivery (CD) rates for the overall group were then determined. The data were then further sub-divided into two groups: 1. Vp < 20 mm and 2. Vp > 20 mm, and the results compared. Statistical analysis was performed using the Chi-Square test. Results: A total of N = 95 pregnancies with severe VM were included for analysis, of which additional structural abnormalities on ultrasound were apparent in 67/95 (70.5%) and 28/95 (29.5%) had isolated severe VM. Chromosomal abnormalities were diagnosed in 15/95 (15.8%) of cases, with (2/28) 7.1% in the isolated SVM group versus (13/67) 19.4% in the non-isolated SVM group. The overall survival rate (excluding TOP) was 53/74 (71.6%), with 20/23 (86.9%) in the isolated SVM group. The overall CD rate was 47/72 (65.3%), which was significantly higher than the CD for the hospital during the same time period of 25.4% (P < 0.01). The data were subdivided into Vp < 20 and Vp > 20 and those with a Vp > 20 had higher rates of additional intracranial findings on ultrasound (Vp < 20 13/41 (31.7%) versus Vp > 20 32/54 (59.3%) (P < 0.05)) and macrocrania (Vp < 20 14/41 (34.1%) versus Vp > 20 35/54 (64.8%) (P < 0.05)). No significant difference was observed in the overall survival or CD rates between the two groups. Conclusion: In conclusion this study reports significant fetal morbidity and mortality with severe VM with high CD rates observed in this cohort. Significant challenges exist in relation to the obstetric management and counseling of parents regarding an often uncertain neonatal prognosis. In continuing pregnancies with significant macrocrania delivery plans should be individualized to improve neonatal outcomes where possible and minimize harm to the mother.

Objective: The aim of the study was to prospectively gather data on pregnancy outcomes of prenatally diagnosed trisomy 21 (T21) in a large tertiary referral centre. Methods: Data were gathered prospectively in a large tertiary referral centre over 5 years from 2013 to 2017 inclusively. Baseline demographic and pregnancy outcome data were recorded on an anonymized computerized database. Results: There were 1,836 congenital anomalies diagnosed in the study period including 8.9% (n = 165) cases of T21. 79% (n = 131) were age 35 or older at diagnosis. 79/113 (69.9%) women chose a termination of pregnancy (TOP) following a diagnosis of T21. Amongst pregnancies that continued, there were 4 second-trimester miscarriages (4/34, 11.7%), 9 stillbirths (9/34, 26.4%), and 1 neonatal death, giving an overall pregnancy and neonatal loss rate of 14/34 (41.1%). Conclusion: The risk of foetal loss in prenatally diagnosed T21 is high at 38% with an overall pregnancy loss rate of 41.1%. This information may be of benefit when counselling couples who are faced with a diagnosis of T21 particularly in the context of limited access to TOP.

BackgroundA specialist fetal neurosurgical clinic was set up in order to improve patient care in a tertiary referral fetal medicine centre. The clinic provides a targeted clinical service for women diagnosed with fetal neurological abnormalities. The service consists of fetal MRI, fetal ultrasound and joint assessment and counselling from neurosurgery and fetal medicine teams.AimsWe aimed to review this service that provides MDT expertise directly to parents and record the cases and pregnancy outcomes involved.Methods This is a prospective study of clinic data from Jan 2013 to Dec 2017. Information includes ultrasound scan findings, MRI results, karyotype results and pregnancy outcome data including post mortem results and data from the paediatric neurosurgery service at the affiliated children’s hospital.ResultsFrom 2013 to 2017, there were 1852 major fetal anomalies diagnosed antenatally at the tertiary referral fetal medicine service and n = 306/1852 [16%] were primarily neurological in origin. The neurosurgical clinic reviewed 125 patients since 2013. The most common reasons for referral were spina bifida, n = 60 [48%] and isolated ventriculomegaly n = 43 [34%]. Other reasons for referral include agenesis of the corpus callosum n = 4 [3%], encephalocoele n = 5 [4%] and intracranial mass lesions n = 3 [2.4%]. Cases with borderline ventriculomegaly and cases with known chromosomal or genetic abnormalities were not typically referred to the clinic. Full outcome data were available on 110 of 125 women seen. Thirty-two women [29%] underwent invasive testing and 14 women [12.7%] had a termination of pregnancy.Conclusion Multidisciplinary antenatal counselling supported with in utero MRI provides families with optimum information to inform them of likely neonatal outcome.