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 populations to be made, planning of resources facilitated and assistance for parents making informed decisions on whether to enter the screening programme.
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 populations to be made, planning of resources facilitated and assistance for parents making informed decisions on whether to enter the screening programme.
Authors: Anne C McKechnie; Kathy A Johnson; Maureen J Baker; Sharron L Docherty; Steven R Leuthner; Suzanne Thoyre Journal: J Pediatr Nurs Date: 2020-05-18 Impact factor: 2.145
Authors: Melissa Hill; Sian Ellard; Jane Fisher; Naomi Fulop; Marian Knight; Mark Kroese; Jean Ledger; Kerry Leeson-Beevers; Alec McEwan; Dominic McMullan; Rhiannon Mellis; Stephen Morris; Michael Parker; Dagmar Tapon; Emma Baple; Laura Blackburn; Asya Choudry; Caroline Lafarge; Hannah McInnes-Dean; Michelle Peter; Rema Ramakrishnan; Lauren Roberts; Beverly Searle; Emma Smith; Holly Walton; Sarah L Wynn; Wing Han Wu; Lyn S Chitty Journal: NIHR Open Res Date: 2022-07-18
Authors: Michael D Quartermain; Sara K Pasquali; Kevin D Hill; David J Goldberg; James C Huhta; Jeffrey P Jacobs; Marshall L Jacobs; Sunghee Kim; Ross M Ungerleider Journal: Pediatrics Date: 2015-08 Impact factor: 7.124
Authors: Sunayna Best; Karen Wou; Neeta Vora; Ignatia B Van der Veyver; Ronald Wapner; Lyn S Chitty Journal: Prenat Diagn Date: 2017-07-25 Impact factor: 3.050
Authors: Jennifer Hammond; Jasmijn E Klapwijk; Melissa Hill; Stina Lou; Kelly E Ormond; Karin E M Diderich; Sam Riedijk; Celine Lewis Journal: J Genet Couns Date: 2020-07-07 Impact factor: 2.717