Ann Tonks

Classification of stillbirth by relevant condition at death (ReCoDe): population based cohort study

Abstract Objective To develop and test a new classification system for stillbirths to help improve understanding of the main causes and conditions associated with fetal death. Design Population based cohort study. Setting West Midlands region. Subjects 2625 stillbirths from 1997 to 2003. Main outcome measures Categories of death according to conventional classification methods and a newly developed system (ReCoDe, relevant condition at death). Results By the conventional Wigglesworth classification, 66.2% of the stillbirths (1738 of 2625) were unexplained. The median gestational age of the unexplained group was 237 days, significantly higher than the stillbirths in the other categories (210 days; P < 0.001). The proportion of stillbirths that were unexplained was high regardless of whether a postmortem examination had been carried out or not (67% and 65%; P = 0.3). By the ReCoDe classification, the most common condition was fetal growth restriction (43.0%), and only 15.2% of stillbirths remained unexplained. ReCoDe identified 57.7% of the Wigglesworth unexplained stillbirths as growth restricted. The size of the category for intrapartum asphyxia was reduced from 11.7% (Wigglesworth) to 3.4% (ReCoDe). Conclusion The new ReCoDe classification system reduces the predominance of stillbirths currently categorised as unexplained. Fetal growth restriction is a common antecedent of stillbirth, but its high prevalence is hidden by current classification systems. This finding has profound implications for maternity services, and raises the question whether some hitherto “unexplained” stillbirths may be avoidable.

Monitoring the Prenatal Detection of Structural Fetal Congenital Anomalies in England and Wales: Register-based Study:

Objective: To provide current population-based prevalence and prenatal diagnosis rates (PND) for specified major congenital anomalies in England and Wales to enable monitoring of the Fetal Anomaly Screening Programme (FASP). Design: Secondary analysis of prospectively collected registry data. Setting: Seven multiple-source, population-based congenital anomaly registers, members of the British Isles Network of Congenital Anomaly Registers (BINOCAR) in 2005 and 2006. Population: 2,883 births with congenital anomalies from a total of 601,545 live and stillbirths. Main outcome measures: PND and birth prevalence of selected congenital anomaly groups/subtypes (anencephaly, spina-bifida, serious cardiac, diaphragmatic hernia, gastroschisis, exomphalos, bilateral renal agenesis, lethal/severe skeletal dysplasia, cleft lip with or without cleft palate [CL + /-P]). Results Of the selected anomaly groups, the most frequently reported were serious cardiac (14.1 per 10,000 births [95% CI 13.0-15.2]) and CL + /-P (9.7 per 10,000 births [8.9-10.5]); the least frequent were bilateral renal agenesis and lethal/severe skeletal dysplasia (<1.5 per 10,000 births). The PND varied for different anomalies from 53.1% (95% CI 43.5-65.2) for serious cardiac anomalies to 99.6% (95% CI 97.9-100.0) for anencephaly. Least variation in PND rates was for anencephaly (range 98.9-100%) and gastroschisis (93.5-100%); greatest variation was for serious cardiac (43.5-65.2%) and lethal/severe skeletal dysplasias (50.0-100%). Conclusions: BINOCAR registers can, uniquely, provide contemporary data on PND and birth prevalence rates to enable monitoring of the ultrasound component of FASP at a national and regional level, allowing comparisons between populationstobemade, planningofresourcesfacilitatedand assistance for parents making informed decisions on whether to enter the screening programme.

Are isolated facial cleft lip and palate associated with increased perinatal mortality? A cohort study from the West Midlands Region, 1995–1997

Objective. To investigate the association between cleft lip and/or palate and perinatal mortality. Methods. A retrospective review was performed of cases of cleft lip/palate born to West Midlands residents from 1995 to 1997. Perinatal mortality for identified cases was compared with all births from 1995 to 1997. Results. 347 cases of cleft lip and/or cleft palate were delivered from 1995 to 1997. Thirty-six pregnancies were terminated due to parental wishes - 2 were registerable births. There were 310 spontaneous registerable births (stillbirths/livebirths) with cleft lip and/or palate and 1 further late fetal loss. In 220 (70.5%), the lesion was isolated. Of these, there were 7 perinatal deaths, 5 had post mortems and no additional anomalies were identified. In 92 (29.5%) cases other abnormalities were identified. The overall perinatal mortality rate (PNMR) in the West Midlands, was 10.0/1000 total births. The overall PNMR for babies with facial clefts was 89.7/1000 total births. The PNMR for those with associated anomalies was 228.3/1000 live/still births. The PNMR for isolated facial clefts was 31.8/1000 live/still births, significantly higher than the background population (OR 3.3, 95% CI: 1.5–7.0). Conclusion. Consideration should be given to screening the fetus at 20–24 weeks for facial deformity. This has implications for detection both of fetal anomalies and of a population at risk for adverse outcome.

A review of pregnancies complicated by congenital sacrococcygeal teratoma in the West Midlands region over an 18-year period: population-based, cohort study.

To describe the epidemiology and outcomes of sacrococcygeal teratoma (SCT) and identify the factors affecting prognosis in a population‐based cohort.

Epidemiology of partial urorectal septum malformation sequence (or 'persistent cloaca'): a population-based study in seven regions of England and Wales, 1985-2010

Background Partial urorectal septum malformation (pURSM) sequence (or ‘persistent cloaca’) is a rare congenital anomaly characterised by a joining of the urethral, anal, and genital openings into a single common channel. This study describes the epidemiology of pURSM sequence in England and Wales including prevalence, additional anomalies, and pregnancy outcomes. Methods All cases of pURSM sequence prospectively notified to seven congenital anomaly registers in England and Wales during 1985–2010, whether delivered as live births, spontaneous fetal deaths (≥20 weeks’ gestation), or elective terminations of pregnancy for fetal anomaly (TOPFA, any gestation), formed this population-based cohort. The risks of spontaneous fetal and infant death were examined by Kaplan–Meier analysis. Differences in prevalence over time, and between regions, were examined by multilevel Poisson regression. Results 117 cases were recorded among 4 251 241 total births. Six (5%) pregnancies resulted in spontaneous fetal deaths, 53 (45%) in TOPFA, and 58 (50%) in live births. The prevalence was 2.8 (95% CI 2.3 to 3.4) per 100 000 total births, increasing significantly over time (p=0.002) and differing significantly between regions (p=0.005). 77 cases (66%) had at least one additional major congenital anomaly outside the perineum, including 67 (57%) renal, 29 (25%) musculoskeletal, 26 (23%) digestive system, and 24 (21%) cardiovascular anomalies. The risks of spontaneous fetal and infant death were estimated as 8.9% (95% CI 4.1 to 18.8) and 26.3% (95% CI 15.1 to 43.4) respectively. Conclusions This is the largest study of the epidemiology of pURSM sequence. The information will be valuable for families and health professionals whenever a case of pURSM sequence is diagnosed.

PPO.12 Stillbirth and infant mortality from congenital anomalies and autosomal recessive (AR) conditions in Birmingham ethnic groups

Background Birmingham has one of the highest rates of stillbirth and infant mortality in the country. Over half of Birmingham births occur in minority ethnic groups, where consanguineous unions are common. Methods Birmingham stillbirths and infant deaths for a 5-year period were selected from the regional, population-based registers of congenital anomaly and mortality. Anomaly cases were linked to clinical genetics referrals. Deaths from congenital anomaly for a 2-year subset were reviewed to determine the likely inheritance pattern. Results There were 377 stillbirths and infant deaths from congenital anomaly in Birmingham during 2006–2010 (4.4/1,000 births) of which 51.2% were linked to clinical genetics records. Of the 151 deaths from anomaly during 2009–10, 53 cases were categorised as having anomalies that were “definitely” or “probably” AR; of these 49 (92.5%) were linked to clinical genetics records. Overall, deaths from AR anomalies comprised 10.4% of mortality from all causes and 35.1% of deaths from congenital anomaly. In Pakistani births, AR anomalies comprised 26.5% of stillbirths and infant mortality from all causes and 61.5% of deaths from congenital anomaly. Mortality from AR anomalies was significantly higher in Pakistani (4.9/1,000 births, OR 37.7; 95% CI9.1–156.1) and Bangladeshi (2.98/1,000 births, OR 22.9; 95% CI4.4–118.2) groups, when compared to the White European group. Mortality rates from anomalies with non-AR patterns of inheritance in these two ethnic groups were not significantly different to the White European group. Conclusions Deaths from AR conditions contribute to the excess of stillbirth and infant mortality seen in Pakistani and Bangladeshi births in Birmingham.

PFM.45 Sacrococcygeal Teratoma: prenatal diagnosis, prevalence, and survival in an 18 year population-based cohort from an NHS region

Background Sacrococcygeal Teratoma (SCT) is a rare tumour that is ‘benign’ but carries with it a variable prognosis for survival. Methods Suspected and confirmed cases presenting before 1 year of age were selected using a regional, population-based, multiple-source, anomaly register from a birth cohort of 1,215,140. Suspected cases were analysed separately as false positive ultrasound diagnoses. Results 35 confirmed cases of SCT delivered between 1995–2012. Total and live births prevalences were 0.29 per 10,000 births (95% CI 0.19–0.38) and 0.21 per 10,000 live births (95% CI 0.13–0.29). Sex ratio (M:F) was 1:2.4. 22 cases were diagnosed prenatally (median gestation 20+1 weeks), the sensitivity of antenatal ultrasound was 62.3% (95% CI 46.8–78.9). The uptake of termination following prenatal diagnosis was 31.2%. There were 6 antenatal false positives; therefore the positive predictive value of antenatal ultrasound was 78.6% (95% CI 63.4–93.8). The confirmed anomalies for the false positives cases were spinal and neural tube defects. Histopathology was ascertained in 27 cases at surgery/postmortem, the tumours were benign (52%), immature (37%), and mixed (11%). Altman staging (final confirmed) was recorded in 25 cases; the majority of cases were stage II (56.0%). A comparison of prenatal ultrasound and MRI was made. The survival to 1 year of age amongst liveborn cases (n = 25) was 84.0% (95% CI 69.6–98.4), and amongst all cases with spontaneous outcomes (excludes terminations) was 75.0% (95% CI 59.0–91.0). Conclusion This population-based series indicates that prenatal ultrasound is relatively sensitive and specific in diagnosing SCT. The survival rate in liveborn cases is good.