Termination of pregnancy for fetal anomaly: a population-based study 1995 to 2004.

Terminations of pregnancy for fetal anomaly (TOPFAs) were analysed over a 10-year period from a population-based congenital anomaly register covering 646,342 births. A total of 3189 cases of TOPFA were identified, prevalence of 49.3 per 10,000 registerable births. The rate of TOPFA at all gestations and at less than 16 weeks increased significantly. There were 102 cases of liveborn TOPFAs (3.2%). The proportion of liveborn TOPFAs after 22 weeks of gestation decreased significantly but below 22 weeks remains unchanged. TOPFA is increasing in frequency, occurring earlier in pregnancy. Live birth is a possible important outcome.

An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004.

BACKGROUND: Adequate contemporary information to counsel patients with a prenatal diagnosis of holoprosencephaly is lacking. We addressed this using data from the West Midlands Congenital Anomaly Register (WMCAR), a population-based malformation register, during a time where technological improvements have been stable and anomaly screening is well established. METHODS: Cases were defined using the ICD 10 code for holoprosencephaly. Cases of livebirths, stillbirths and termination at all gestations were included in the study. The diagnosis was verified by a pathology or definitive radiological report with cross validation from the regional pathology, clinical genetics, cytogenetics and fetal medicine databases. RESULTS: There were 113 cases reported of holoprosencephaly for the years 1995-2004. This represents a prevalence of 1.7 per 10,000 births and terminations, with no change in prevalence over time. There was a decreased risk of holoprosencephaly in the white population [white vs. nonwhite; RR 0.53(0.36-0.79)]. Karyotypical abnormality was noted in 46% of cases where the karyotype was known. Trisomy 13 was the most common chromosomal abnormality. Correct allocation of a diagnosis of holoprosencephaly by ultrasound occurred in 77% of cases, with another 12% having a severe intracranial abnormality but was not reported as holoprosencephaly. In 4%, a prenatal diagnosis of holoprosencephaly was not made. Termination of pregnancy was performed in 80% of all cases. CONCLUSION: Holoprosencephaly is a morbid condition associated with significant secondary etiologies.

Outcome after prenatal diagnosis of hypoplastic left-heart syndrome: a case series.

BACKGROUND: Traditionally, after prenatal diagnosis of hypoplastic left-heart syndrome (HLHS) couples have been offered termination of pregnancy or comfort care. Success of postnatal surgical options such as the Norwood procedure have been associated with survival of up to 60%. Whether survival is affected by the congenital anomaly being identified prenatally or postnatally remains uncertain. METHODS: We reviewed all cases of prenatally diagnosed HLHS referred to the Fetal Medicine Unit at Birmingham Women's Hospital over 6 years between 1994 and 1999. FINDINGS: 87 cases of HLHS were referred at a median gestational age (95% CI) of 23 (19-37) weeks. Of these, 53 (61%) chose prenatal karyotyping. The overall frequency of abnormal karyotype was found in seven of 59 cases (12%) and associated structural anomalies in 18 of 87 (21%). After counselling, 38 of 87 couples (44%) chose termination of pregnancy. Of the remaining 49 fetuses, 11 (23%) were not considered for postnatal surgery because of parental choice and they died after compassionate care. Of the 36 babies who had surgery postnatally, 12 survived (33%). We recorded a survival rate of 38% for the stage-1 Norwood procedure in the prenatally diagnosed HLHS in our centre. These data suggest that at the point of prenatal detection, the overall survival rate for fetuses with HLHS is 25% (if terminated pregnancies are excluded). INTERPRETATION: Fetal echocardiography allows early diagnosis of HLHS and gives clinicians the opportunity to triage this group dependent on prenatal findings, including karyotyping and the exclusion of other structural anomalies. These prospective data provide up-to-date information on the basis of which parents can make decisions.

Confidential regional enquiry into mature stillbirths and neonatal deaths--a multi-disciplinary peer panel perspective of the perinatal care of 238 deaths.

AIM OF STUDY: To examine the sub-optimal factors relating to the care of stillbirths and neonatal deaths of birthweight 2.5 kg and above. DESIGN: Regional confidential enquiry into stillbirths and neonatal deaths by multi-disciplinary panel. METHODS: All 238 stillbirths and neonatal deaths of 2.5 kg and above in West Midlands Region, UK in the year 1991 were studied. Documents from each death were peer-reviewed by four assessors, one from each of the 4 disciplines, selected randomly from a pool of 24 senior obstetricians, paediatricians, general practitioners and midwives. Panel consensus for each death was reached to identify relevant factors related to sub-optimal care which might have prevented or would reasonably be expected to prevent an adverse outcome (Grades II & III sub-optimal care). RESULTS: A total of 149 (62.7%) deaths were considered by the panel to have grade II or III factors. Of these, 151 (68.9%) were found in the antepartum period, 44 (20.1%) in the intrapartum period and 24 (11.0%) in the postpartum period. The majority (78.1%) of these factors involved clinical practice of care providers. Factors related to patient/family, equipment and staffing constituted 19.6%, 1.4% and 0.9% respectively. Important sub-optimal factors identified were lack of appreciation of antenatal and intrapartum risks factors (17.8%), the failure of proper interpretation and management of antepartum and intrapartum cardiotocography (12.8%), failure of adherence to accepted practice or standard care (12.8%), inadequate skills in neonatal resuscitation (4.5%) and adverse patient-related factors (19.6%). CONCLUSION: Substantial scope exists for confidential multi-disciplinary peer review audit of current obstetric and neonatal care in the region in formulating a strategy to reduce perinatal mortality.

The value of screening for Down's syndrome in a socioeconomically deprived area with a high ethnic population.

OBJECTIVE: To assess the utility of biochemical antenatal screening for Down's syndrome in a socioeconomically deprived area with a high proportion of Asian women from the Indian Subcontinent. DESIGN: Audit of Down's syndrome biochemical screening service over a four-year period. SETTING: Teaching hospital and community antenatal clinic in inner city Birmingham. POPULATION: Women booked between October 1992 and December 1996. METHODS: Blood for screening was collected between 14 and 21 weeks gestation, alpha-fetoprotein and intact human chorionic gonadotrophin were measured in serum and the risk of Down's syndrome was calculated. MAIN OUTCOME MEASURES: Uptakes of screening and amniocentesis, screen positive rate, odds of being affected given a positive result, miscarriages associated with amniocentesis offered following a high risk result, detection rate, number of Down's cases prevented and a cost analysis. Outcome measures were compared between Asians and Caucasians. RESULTS: Overall 11,974 women (71%) accepted serum screening. The screen positive rate was 8.3% in Asians and 5.0% in Caucasians. The uptake of amniocentesis in women following a high risk result was 54% overall (35% Asian, 67% Caucasian). Nineteen cases of Down's syndrome were identified, of which 13 occurred in women who opted for biochemical screening. The detection rate of the biochemical screening programme was 85% (11/13). Of these 11 cases, six (none of whom were Asian) elected to have an amniocentesis, of whom four thereafter had a termination. CONCLUSION: In this study the public health benefits of screening for Down's syndrome in a socioeconomically deprived area with a high Asian population, were small.