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Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study

Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study
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 populations to be made, planning of resources facilitated and assistance for parents making informed decisions on whether to enter the screening programme.
2-7
Boyd, Patricia A.
d5eca465-32aa-4066-8823-16c8b8b7fe33
Tonks, Ann M.
17f5e134-db64-403e-bf81-8171d75893bf
Rankin, Judith
ddb311fa-7fd1-4d3a-a10a-727fc52320a9
Rounding, Catherine
21b05f79-8ab1-4dd7-bcd3-8363041c849d
Wellesley, Dianna
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Draper, Elizabeth S.
9c1d3580-fa21-4268-a182-6ffc62d0520a
Boyd, Patricia A.
d5eca465-32aa-4066-8823-16c8b8b7fe33
Tonks, Ann M.
17f5e134-db64-403e-bf81-8171d75893bf
Rankin, Judith
ddb311fa-7fd1-4d3a-a10a-727fc52320a9
Rounding, Catherine
21b05f79-8ab1-4dd7-bcd3-8363041c849d
Wellesley, Dianna
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Draper, Elizabeth S.
9c1d3580-fa21-4268-a182-6ffc62d0520a

Boyd, Patricia A., Tonks, Ann M., Rankin, Judith, Rounding, Catherine, Wellesley, Dianna and Draper, Elizabeth S. (2011) Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study. Journal of Medical Screening, 18 (1), 2-7. (doi:10.1258/jms.2011.010139). (PMID:21536809)

Record type: Article

Abstract

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.

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Published date: March 2011
Organisations: Human Development & Health

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Local EPrints ID: 196361
URI: http://eprints.soton.ac.uk/id/eprint/196361
PURE UUID: 13857402-ca4b-4277-83bb-d866b8f5db80

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Date deposited: 06 Sep 2011 13:29
Last modified: 14 Mar 2024 04:07

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Contributors

Author: Patricia A. Boyd
Author: Ann M. Tonks
Author: Judith Rankin
Author: Catherine Rounding
Author: Dianna Wellesley
Author: Elizabeth S. Draper

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