Part of Congenital anomaly statistics 2019
Appendix two: Technical details
Incidence and birth prevalence
Incidence is the total number of new cases of disease occurring in a population in a specified time period, whereas prevalence is the total number of all cases in a population at one point in time. Conventionally, as in this report, congenital anomaly registers report prevalence estimates. This is because a proportion of pregnancies with an anomaly will miscarry spontaneously before being identified. It is also not possible to provide a population estimate of the total number of pregnancies at risk of a congenital anomaly as there is no reliable estimate of the total number of pregnancies, given some result in miscarriage and terminations of pregnancy for fetal anomaly (TOPFA). Prevalence estimates are reported per 10,000 total births (live and stillbirths); these are referred to as birth prevalence estimates even though the pregnancy may not result in a registered birth because of late miscarriage or TOPFA.
Confidence intervals
Confidence intervals are calculated around many different types of statistic used in public health analysis. Comparisons are often made between 2 or more different rates. In this report, examples include estimated birth prevalence comparisons between different regions of registration, maternal age category and type of congenital anomaly. Basic statistical testing is undertaken by comparing the confidence intervals of estimated birth prevalence to see if they overlap - with non-overlapping confidence intervals being considered as statistically significantly different.
The confidence intervals used in this report are calculated using the Poisson distribution (Bégaud et al, 2005).
Denominators
The number of total (live and still) births in England reported by the Office of National Statistics is used to calculate total birth prevalence and live birth prevalence of congenital anomalies. These are obtained from the PHE Data Lake. We also obtain the number of births from each of the UK Crown Dependencies; Isle of Man, Jersey and Guernsey. These are added to the total births for the respective regions; North West and Wessex and also to the overall total births for England.
Geographical coverage of the NCARDRS regions
NCARDRS is made up of 10 reporting regions in England (Figure 1, main report). Regional boundaries used in this report are the EUROCAT reporting regions for England. To preserve the longitudinal trend, they are consistent with the legacy registers for these regions (East Midlands and South Yorkshire, Northern, South West, Thames Valley and Wessex). Table 1 lists the Local Authorities that are included in each region.
|
NCARDRS region |
Local authorities |
|
|
East of England |
Peterborough |
Broxbourne |
|
|
Luton |
Dacorum |
|
|
Southend-on-Sea |
Hertsmere |
|
|
Thurrock |
North Hertfordshire |
|
|
Bedford |
Three Rivers |
|
|
Central Bedfordshire |
Watford |
|
|
Cambridge |
Breckland |
|
|
East Cambridgeshire |
Broadland |
|
|
Fenland |
Great Yarmouth |
|
|
Huntingdonshire |
King’s Lynn and West Norfolk |
|
|
South Cambridgeshire |
North Norfolk |
|
|
Basildon |
Norwich |
|
|
Braintree |
South Norfolk |
|
|
Brentwood |
Babergh |
|
|
Castle Point |
Ipswich |
|
|
Chelmsford |
Mid Suffolk |
|
|
Colchester |
St Albans |
|
|
Epping Forest |
Welwyn Hatfield |
|
|
Harlow |
East Hertfordshire |
|
|
Maldon |
Stevenage |
|
|
Rochford |
West Suffolk |
|
|
Tendring |
East Suffolk |
|
|
Uttlesford |
|
|
East Midlands and South Yorkshire (EMSY) |
Amber Valley Ashfield |
Leicester Lincoln |
|
|
Barnsley |
Mansfield |
|
|
Bassetlaw |
Melton |
|
|
Balby |
Newark and Sherwood |
|
|
Bolsover |
North East Derbyshire |
|
|
Boston |
North East Lincolnshire |
|
|
Broxtowe |
North Kesteven |
|
|
Charnwood |
North Lincolnshire |
|
|
Chesterfield |
North West Leicestershire |
|
|
Corby |
Northampton |
|
|
Daventry |
Nottingham |
|
|
Derby |
Oadby and Wigston |
|
|
Derbyshire Dales |
Rotherham |
|
|
Doncaster |
Rushcliffe |
|
|
East Lindsey |
Rutland |
|
|
East Northamptonshire |
Sheffield |
|
|
Erewash |
South Derbyshire |
|
|
Gedling |
South Holland |
|
|
Harborough |
South Kesteven |
|
|
High Peak |
South Northamptonshire |
|
|
Hinckley and Bosworth |
Wellingborough |
|
|
Kettering |
West Lindsey |
|
London and South East |
Medway |
Mid Sussex |
|
|
Brighton and Hove |
Worthing |
|
|
Eastbourne |
City of London |
|
|
Hastings |
Barking and Dagenham |
|
|
Lewes |
Barnet |
|
|
Rother |
Bexley |
|
|
Wealden |
Brent |
|
|
Ashford |
Bromley |
|
|
Canterbury |
Camden |
|
|
Dartford |
Croyden |
|
|
Dover |
Ealing |
|
|
Gravesham |
Enfield |
|
|
Maidstone |
Greenwich |
|
|
Sevenoaks |
Hackney |
|
|
Shepway |
Hammersmith and Fulham |
|
|
Swale |
Haringey |
|
|
Thanet |
Harrow |
|
|
Tonbridge and Malling |
Havering |
|
|
Tunbridge Wells |
Hillingdon |
|
|
Elmbridge |
Hounslow |
|
|
Epsom and Ewell |
Islington |
|
|
Guildford |
Kensington and Chelsea |
|
|
Mole Valley |
Kingston upon Thames |
|
|
Reigate and Banstead |
Lambeth |
|
|
Runnymeade |
Lewisham |
|
|
Spelthorne |
Merton |
|
|
Surrey Heath |
Newham |
|
|
Tandridge |
Redbridge |
|
|
Waverley |
Richmond upon Thames |
|
|
Woking |
Southwark |
|
|
Adur |
Sutton |
|
|
Arun |
Tower Hamlets |
|
|
Chichester |
Waltham Forest |
|
|
Crawley |
Wandsworth |
|
|
Horsham |
Westminster |
|
Northern |
Allerdale |
Middlesbrough |
|
|
Carlisle |
Newcastle upon Tyne |
|
|
Copeland |
North Tyneside |
|
|
County Durham |
Northumberland |
|
|
Darlington |
Redcar and Cleveland |
|
|
Eden |
South Tyneside |
|
|
Gateshead |
Stockton-On-Tees |
|
|
Hartlepool |
Sunderland |
|
North West |
Halton |
West Lancashire |
|
|
Warrington |
Wyre |
|
|
Blackburn with Darwen |
Bolton |
|
|
Blackpool |
Bury |
|
|
Cheshire East |
Manchester |
|
|
Cheshire West and Chester |
Oldham |
|
|
Barrow-in-Furness |
Rochdale |
|
|
South Lakeland |
Salford |
|
|
Burnley |
Stockport |
|
|
Chorley |
Tameside |
|
|
Fylde |
Trafford |
|
|
Hyndburn |
Wigan |
|
|
Lancaster |
Knowsley |
|
|
Pendle |
Liverpool |
|
|
Preston |
St.Helens |
|
|
Ribble Valley |
Sefton |
|
|
Rossendale |
Wirral |
|
|
South Ribble |
|
|
South West |
Bath and North East Somerset |
Plymouth |
|
|
Bristol, City of |
Sedgemoor |
|
|
Cheltenham |
South Gloucestershire |
|
|
Cornwall |
South Hams |
|
|
Cotswold |
South Somerset |
|
|
East Devon |
Stroud |
|
|
Exeter |
Swindon |
|
|
Forest of Dean |
Taunton Deane Teignbridge |
|
|
Gloucester |
Tewkesbury |
|
|
Isles of Scilly |
Torbay |
|
|
Mendip |
Torridge |
|
|
Mid Devon |
West Devon |
|
|
North Devon |
West Somerset |
|
|
North Somerset |
Wiltshire (excluding Salisbury) |
|
Thames Valley |
Aylesbury Vale |
South Bucks |
|
|
Bracknell Forest |
South Oxfordshire |
|
|
Cherwell |
Vale of White Horse |
|
|
Chiltern |
West Berkshire |
|
|
Milton Keynes |
Windsor and Maidenhead |
|
|
Oxford |
Wokingham |
|
|
Reading |
Wycombe |
|
|
Slough |
|
|
Wessex |
Basingstoke and Deane |
North Dorset |
|
|
Bournemouth |
Poole |
|
|
Christchurch |
Portsmouth |
|
|
East Dorset |
Purbeck |
|
|
East Hampshire |
Rushmoor |
|
|
Eastleigh |
Southampton |
|
|
Fareham |
Test Valley |
|
|
Gosport |
West Dorset |
|
|
Hart |
Weymouth and Portland |
|
|
Havant |
Wiltshire (Salisbury only) |
|
|
Isle of Wight |
Winchester |
|
|
New Forest |
|
|
West Midlands |
Birmingham |
Shropshire |
|
|
Bromsgrove |
Solihull |
|
|
Cannock Chase |
South Staffordshire |
|
|
Coventry |
Stafford |
|
|
Dudley |
Stoke-on-Trent |
|
|
East Staffordshire |
Stratford-on-Avon |
|
|
Herefordshire, County of |
Tamworth |
|
|
Lichfield |
Telford and Wrekin |
|
|
Malvern Hills Newcastle-under-Lyme |
Walsall Warwick |
|
|
North Warwickshire |
Wolverhampton |
|
|
Nuneaton and Bedworth |
Worcester |
|
|
Redditch |
Wychavon |
|
|
Rugby |
Wyre Forest |
|
|
Sandwell |
|
|
Yorkshire and Humber |
Bradford |
Leeds |
|
|
Calderdale |
Richmondshire |
|
|
Craven |
Ryedale |
|
|
East Riding of Yorkshire |
Scarborough |
|
|
Hambleton |
Selby |
|
|
Harrogate |
Wakefield |
|
|
Kingston upon Hull |
York |
|
|
City of Kirkless |
|
Table 1. Geographical coverage of the NCARDRS regions in this report
Data collection
Congenital anomalies are defined as being present at delivery, originating before birth, and include structural, chromosomal and genetic anomalies. Screening during pregnancy can detect some congenital anomalies, while some are found at birth. Others are detected as a baby grows older.
Congenital anomaly data are collected from a number of different sources including:
• maternity units
• neonatal units
• diagnostic departments (paediatric, neonatal, clinical genetics, antenatal ultrasound, fetal medicine, pathology)
• genetic laboratories
• NHS trust IT departments
• child health systems
• local audit schemes
• disease-specific registers
• neighbouring national registers
This multiple source reporting enables NCARDRS to achieve the highest possible ascertainment of congenital anomalies in the population. Much of the focus to date has been on ensuring high ascertainment and completeness of cases nationally and ensuring consistency and standardisation across the country.
A single data management system has been developed and NCARDRS has a growing team of dedicated registration officers and analysts. NCARDRS currently takes electronic data from over 500 NHS providers across the country.
Data is collected on all suspected and confirmed congenital anomalies identified in utero, at birth or at any point in childhood. In addition to babies that are liveborn or stillborn that have congenital anomalies, information about TOPFA at any gestation and miscarriages where an anomaly is present is also collected. NCARDRS only report anomalies that are recorded in pregnancies that end in a late miscarriage (20 to 23 weeks gestation) as ascertainment of all miscarriages with congenital anomalies is not possible.
NCARDRS collects information about the mother and child, including postcode of residence, mother’s age, pregnancy length, pregnancy outcome, when and how the anomaly was identified and the details of each anomaly. Some identifiable information is collected on the mother and child but only enough information to avoid duplicate registrations and for the validation of cases, ensuring accurate matching between antenatally diagnosed anomalies and postnatal notifications.
Data quality
All 10 reporting regions have submitted data to the European Surveillance of Congenital Anomalies (EUROCAT) since the 2018 birth year cohort and followed their data quality procedures, ensuring collection of a number of core variables. More information can be found in the EUROCAT Guidelines for data registration. In addition, there is an established national process and system for data collection, processing and quality assurance, adopting internationally approved methods of coding, recording and analysis.
Inclusion criteria
All livebirths, fetal deaths with gestational age (GA) greater than or equal to 20 weeks and TOPFA (at any gestational age) with at last one registered anomaly delivered in England are included for reporting.
Coding and reporting
NCARDRS codes congenital anomalies according to the paediatric adaptation of ICD-10 produced by the British Paediatric Association (BPA). The BPA classification specifies more clinical terms than ICD-10, and provides greater granularity for analytical purposes through the use of 5th character extensions to many ICD-10 codes. NCARDRS uses the EUROCAT congenital anomaly subgroup categories for reporting. These subgroups use ICD10 codes with the BPA extension to group together conditions by body system and anomaly type. Table 2 reproduces the EUROCAT congenital anomaly subgroup categories. Table 3 lists the exclusions applied to the categories in Table 2.
|
Subgroups |
ICD10-BPA |
Comments |
Excluded minor anomalies |
|
All anomalies |
Q-chapter, D21.5, D82.1, D18.10, P35.0, P35.1, P37.1 |
|
Exclude all minor anomalies as specified in exclusion list below |
|
Nervous system |
Q00*, Q01*, Q02, Q03*, Q04*, Q05*, Q06*, Q07* |
|
Q04.61, Q07.82 |
|
Neural tube defects |
Q00*, Q01*, Q05* |
|
|
|
Anencephalus and similar |
Q00* |
|
|
|
Encephalocele |
Q01* |
Exclude if associated with anencephalus subgroup |
|
|
Spina Bifida |
Q05* |
Exclude if associated with anencephalus or encephalocele subgroups |
|
|
Hydrocephalus |
Q03* |
Exclude hydranencephaly. Exclude association with NTD subgroup |
|
|
Severe Microcephaly |
Q02 |
Exclude association with NTD subgroup |
|
|
Arhinencephaly or holoprosencephaly |
Q04.1, Q04.2 |
|
|
|
Eye |
Q10*-Q15* |
|
Q10.1-Q10.3, Q10.5, Q13.5 |
|
Anophthalmos or microphthalmos |
Q11.0, Q11.1, Q11.2 |
|
|
|
Anophthalmos |
Q11.0, Q11.1 |
|
|
|
Congenital cataract |
Q12.0 |
|
|
|
Congenital glaucoma |
Q15.0 |
|
|
|
Ear, face and neck |
Q16*, Q17*, Q18* |
|
Q17.0-Q17.5, Q17.9, Q18.0-Q18.2, Q18.4- Q18.7, Q18.80, Q18.9 |
|
Anotia |
Q16.0 |
|
|
|
Congenital Heart Defects |
Q20*-Q26* |
Exclude Patent ductus arteriosus with gestational age (GA) less than 37 weeks Exclude peripheral pulmonary artery stenosis with GA less than 37 weeks |
Q21.11, Q25.0 if GA less than 37 weeks, Q25.41, Q25.6 if GA less than 37 weeks, Q26.1 |
|
Severe CHD |
Q20.0, Q20.1, Q20.3, Q20.4, Q21.2, Q21.3, Q22.0, Q22.4, Q22.5, Q22.6, Q23.0, Q23.2, Q23.3, Q23.4, Q25.1, Q25.2, Q26.2 |
|
|
|
Common arterial truncus |
Q20.0 |
|
|
|
Double outlet right ventricle |
Q20.1 |
|
|
|
Transposition of great vessels |
Q20.3 |
|
|
|
Single ventricle |
Q20.4 |
|
|
|
Ventricular septal defect |
Q21.0 |
|
|
|
Atrial septal defect |
Q21.1 |
|
Q21.11 |
|
Atrioventricular septal defect |
Q21.2 |
|
|
|
Tetralogy of Fallot |
Q21.3 |
|
|
|
Tricuspid atresia and stenosis |
Q22.4 |
|
|
|
Ebstein's anomaly |
Q22.5 |
|
|
|
Pulmonary valve stenosis |
Q22.1 |
|
|
|
Pulmonary valve atresia |
Q22.0 |
|
|
|
Aortic valve atresia or stenosis |
Q23.0 |
|
|
|
Mitral valve anomalies |
Q23.2, Q23.3 |
|
|
|
Hypoplastic left heart |
Q23.4 |
|
|
|
Hypoplastic right heart |
Q22.6 |
|
|
|
Coarctation of aorta |
Q25.1 |
|
|
|
Aortic atresia or interrupted aortic arch |
Q25.2 |
|
|
|
Total anomalous pulm venous return |
Q26.2 |
|
|
|
Patent ductus arteriosus as only CHD in term infants (GA +37 weeks) |
Q25.0 |
Livebirths only |
|
|
Respiratory |
Q30.0, Q32*-Q34* |
Exclude Q33.6 |
Q32.0, Q33.1 |
|
Choanal atresia |
Q30.0 |
|
|
|
Cystic adenomatous malformation of lung |
Q33.80 |
|
|
|
Oro-facial clefts |
Q35*-Q37* |
Exclude association with holoprosencephaly or anencephaly subgroups |
|
|
Cleft lip with or without cleft palate |
Q36*, Q37* |
Exclude association with holoprosencephaly or anencephaly subgroups |
|
|
Cleft palate |
Q35* |
Exclude association with cleft lip subgroup. Exclude association with holoprosencephaly or anencephaly subgroups |
|
|
Digestive system |
Q38*-Q45*, Q79.0 |
|
Q38.1, Q38.2, Q38.50, Q40.0, Q40.1. Q40.21, Q43.0, Q43.20, Q43.81, Q43.82 |
|
Oesophageal atresia with or without tracheo- oesophageal fistula |
Q39.0-Q39.1 |
|
|
|
Duodenal atresia or stenosis |
Q41.0 |
Exclude if also annular pancreas subgroup |
|
|
Atresia or stenosis of other parts of small intestine |
Q41.1-Q41.8 |
|
|
|
Ano-rectal atresia and stenosis |
Q42.0-Q42.3 |
|
|
|
Hirschsprung's disease |
Q43.1 |
|
|
|
Atresia of bile ducts |
Q44.2 |
|
|
|
Annular pancreas |
Q45.1 |
|
|
|
Diaphragmatic hernia |
Q79.0 |
|
|
|
Abdominal wall defects |
Q79.2, Q79.3, Q79.5 |
|
|
|
Gastroschisis |
Q79.3 |
|
|
|
Omphalocele |
Q79.2 |
|
|
|
Urinary |
Q60*-Q64*, Q79.4 |
|
Q61.0, Q62.7, Q63.3 |
|
Bilateral renal agenesis including Potter syndrome |
Q60.1, Q60.6 |
Exclude unilateral |
|
|
Multicystic Renal dysplasia |
Q61.40, Q61.41 |
|
|
|
Congenital hydronephrosis |
Q62.0 |
|
|
|
Bladder exstrophy and/or epispadias |
Q64.0, Q64.1 |
|
|
|
Posterior urethral valve and/or prune belly |
Q64.20, Q79.4 |
|
|
|
Genital |
Q50*-Q52*, Q54*-Q56* |
|
Q52.3, Q52.5, Q52.7, Q55.20, Q55.21 |
|
Hypospadias |
Q54* |
|
|
|
Indeterminate sex |
Q56* |
|
|
|
Limb |
Q65*-Q74* |
|
Q65.3-Q65.6, Q66.2-Q66.9, Q67.0-Q67.8, Q68.0, Q68.10, Q68.21, Q68.3-Q68.5, Q74.00 |
|
Limb reduction |
Q71*-Q73* |
|
|
|
Club foot – talipes equinovarus |
Q66.0 |
|
|
|
Hip dislocation and/or dysplasia |
Q65.0–Q65.2, Q65.80, Q65.81 |
|
|
|
Polydactyly |
Q69* |
|
|
|
Syndactyly |
Q70* |
|
|
|
Other anomalies or syndromes |
|
|
|
|
Skeletal dysplasias |
Q74.02, Q77*, Q78.00, Q78.2- Q78.8 |
|
|
|
Craniosynostosis |
Q75.0 |
|
|
|
Congenital constriction bands or amniotic band |
Q79.80 |
|
|
|
Situs inversus |
Q89.3 |
|
|
|
Conjoined twins |
Q89.4 |
|
|
|
Congenital skin disorders |
Q80*-Q82* |
|
Q82.5, Q82.80 |
|
VATER/VACTERL |
Q87.26 |
|
|
|
Vascular disruption |
Q04.35, Q41.1, Q41.2, Q41.8, |
|
|
|
anomalies |
Q71.0, Q71.2, Q71.3, Q72.0, |
||
|
|
Q72.2, Q72.3, Q73.0, Q79.3, |
||
|
|
Q79.5, Q79.80, Q79.82, Q87.06 |
||
|
Laterality anomalies |
Q20.6, Q24.0, Q33.81, Q89.0, Q89.3 |
|
|
|
Teratogenic syndromes with malformations |
Q86*, P35.0, P35.1, P37.1 |
|
|
|
Fetal alcohol syndrome |
Q86.0 |
|
|
|
Valproate syndrome |
Q86.80 |
|
|
|
Maternal infections resulting in malformations |
P35.0, P35.1, P37.1 |
|
|
|
Genetic syndromes + |
Q44.71, |
Exclude Associations and |
|
|
microdeletions |
Q61.90, |
sequences |
|
|
|
Q74.84, |
Exclude |
|
|
|
Q75.1, Q75.4, Q75.81, Q87*, Q93.6, D82.1 |
Q87.03, Q87.04, Q87.06, Q87.08, Q87.24, Q87.26 |
|
|
Chromosomal |
Q90*-Q92*, Q93*, Q96*- Q99* |
Exclude microdeletions Q93.6 |
|
|
Down’s syndrome |
Q90* |
|
|
|
Patau’s syndrome |
Q91*4-Q91*7 |
|
|
|
Edwards’ syndrome |
Q91*0-Q91*3 |
|
|
|
Turner’s syndrome |
Q96* |
|
|
|
Klinefelter’s syndrome |
Q98*0-Q98*4 |
|
|
Table 2. EUROCAT congenital anomaly subgroups
|
|
|
|
Head |
|
|
Aberrant scalp hair patterning |
|
|
Brachycephaly |
|
|
Flat occiput |
|
|
Depressions in skull, lacunar skull, temporal flattening |
Q67.40 |
|
Dolichocephaly |
Q67.2 |
|
Plagiocephaly – head asymmetry |
Q67.3 |
|
Third fontanelle |
|
|
Macrocephalus |
Q75.3 |
|
Facial asymmetry |
Q67.0 |
|
Compression facies |
Q67.1 |
|
Other cong deformities of skull, face and jaw (including all types of abnormally shaped skull without synostosis) |
Q67.4 |
|
Skull, late closure |
|
|
Dysmorphic face Broad, prominent forehead |
Q18.9 |
|
Coarse facies |
|
|
Flattened face |
|
|
Frontal bossing or wide forehead |
|
|
Mid face hypoplasia |
|
|
Pointed facies |
|
|
Round head shape |
|
|
Sloping forehead |
|
|
Metopic ridge, high metopic suture |
|
|
Wormian bones |
|
|
Bony occipital spur |
|
|
Eyes |
|
|
Anisocoria |
|
|
Dacryocystocele |
H04.6 |
|
Epicanthic folds |
Q18.9 |
|
Epicenthus inversus |
Q18.9 |
|
Exophthalmos |
H05.2 |
|
Upward slanting palpebral fissures |
Q10.3 |
|
Downward slanting palpebral fissures |
Q10.3 |
|
Short palpebral fissures |
Q18.9 |
|
Congenital ectropion |
Q10.1 |
|
Congenital entropion |
Q10.2 |
|
Other congenital malformations of eyelid |
Q10.3 |
|
Oval shaped pupils |
|
|
Prominent or protruding eyes |
H05.2 |
|
Dystopia canthorum |
Q18.9 |
|
Hypertelorism |
Q75.2 |
|
Hypotelorism |
Q18.9 |
|
Stenosis of stricture of lacrimal duct |
Q10.5 |
|
Synophrys |
Q18.80 |
|
Blue sclera |
Q13.5 |
|
Crocodile tears |
Q07.82 |
|
Ears |
|
|
Primitive shape |
Q17.3 |
|
Lack of helical fold |
Q17.3 |
|
Asymmetric size |
Q17.3 |
|
Posterior angulation |
Q17.3 |
|
Microtia or small ears |
Q17.2 |
|
Macrotia |
Q17.1 |
|
Protuberant ears |
Q17.3 |
|
Absent tragus |
|
|
Double lobule |
Q17.0 |
|
Accesorry auricle, preauricular appendage, tag or lobule |
Q17.0 |
|
Auricular pit |
|
|
Pointed ear, Vulcan ear, simple ear |
Q17.3 |
|
Preauricular sinus or cyst |
Q18.1 |
|
Narrow external auditory meatus |
|
|
Low set ears |
Q17.4 |
|
Bat ear, prominent proturberant ear |
Q17.5 |
|
Congenital absence of ear lobe |
|
|
Darwin’s tubercle |
|
|
Unspecified and minor malformation of ear |
Q17.9 |
|
Nose |
|
|
Small or hypoplastic nares |
Q18.9 |
|
Notched alas |
|
|
Anteverted nares |
Q18.9 |
|
Bifid tip of nose |
Q18.9 |
|
Broad nasal root, anomaly of nasal root |
Q18.9 |
|
Depressed nasal bridge |
Q18.9 |
|
Deviation of nasal septum |
Q67.41 |
|
Dysmorphic nose |
Q18.9 |
|
Flat nose |
Q18.9 |
|
Flattened nasal bridge |
Q18.9 |
|
Pinched nose |
Q18.9 |
|
Prominent nasal bridge |
Q18.9 |
|
Saddle nose |
Q18.9 |
|
Small pointed nose |
Q18.9 |
|
Underdeveloped nasal bones |
Q18.9 |
|
Upturned nose |
Q18.9 |
|
Wide nasal root |
Q18.9 |
|
Oral regions |
|
|
Borderline small mandible or minor micrognathia |
|
|
Aberrant frenula |
|
|
Absentor hypoplasia depressor anguli oris (asymmetric crying face) |
|
|
Alveolar crest |
|
|
Anomalies of philtrum, elongated philtrum |
Q18.9 |
|
Bifid uvula or cleft uvula |
Q35.7 |
|
Borderline small mandible or minor micrognathia |
|
|
Disturbances in tooth eruption |
|
|
Enamel hypoplasia |
|
|
Glossoptosis |
|
|
Malformed teeth |
|
|
High arched palate |
Q38.50 |
|
Tongue tie or cyst of tongue |
Q38.1 |
|
Macroglossia or hemi-hypertrophy of tongue |
Q38.2 |
|
Macrostomia |
Q18.4 |
|
Malformed teeth |
|
|
Microstomia |
Q18.5 |
|
Macrocheilia |
Q18.6 |
|
Microcheilia |
Q18.7 |
|
Microglossia |
|
|
Microstomia |
Q18.9 |
|
Mid-oral tongue position |
|
|
Neonatal teeth |
|
|
Prominent jaw |
Q18.9 |
|
Retrognathia or receding chin |
Q67.4 |
|
Short philtrum |
Q18.9 |
|
Thin lips |
Q18.9 |
|
Ranula |
|
|
Neck |
|
|
Broad neck |
Q18.9 |
|
Congenital thymic hypoplasia |
|
|
Short neck |
Q18.9 |
|
Mild webbed neck |
|
|
Sinus, fistula or cyst of branchial cleft |
Q18.0 |
|
Thymus involution |
|
|
Thyreoglossal cyst |
|
|
Preauricular sinus or cyst |
Q18.1 |
|
Other branchial cleft malformations |
Q18.2 |
|
Congenital malformation of face and neck, unspecified |
Q18.9 |
|
Torticollis |
Q68.0 |
|
Hands |
|
|
Duplication of thumbnail |
|
|
Arachnodactyly |
|
|
Enlarged or hypertrophic nails |
Q84.5 |
|
Single or abnormal palmar crease |
Q82.80 |
|
Unusual dermatoglyphics |
|
|
Clinodactyly (5th finger) |
Q68.10 |
|
Short fingers (4. 5. th finger) |
|
|
Accessorry carpal bones |
Q74.00 |
|
Other congenital malformations of nails |
Q84.6 |
|
Overlapping fingers |
|
|
Small fingers |
|
|
Subluxation of phalangeal bones |
|
|
Feet or limb |
|
|
Bulbous toes |
|
|
Syndactyly (second to third toes) |
|
|
Gap between toes (first to second) |
|
|
Short great toe |
|
|
Recessed toes (fourth, fifth) |
|
|
Enlarged or hypertrophic nails |
Q84.5 |
|
Prominent calcaneus |
|
|
Clicking hip, subluxation of unstable hip |
Q65.3-Q65.6 |
|
Metatarsus varus or metatarsus adductus |
Q66.2 |
|
Hallux varus – other cong varus deformities of feet |
Q66.3 |
|
Talipes or pes calcaneovalgus |
Q66.4 |
|
Talipes calcaneovarus |
Q66.1 |
|
Congenital pes planus |
Q66.5 |
|
Hip dysplasia and other specified or unspecified hip anomalies |
Q65.8, Q65.9 |
|
Metatarsus varus – other cong valgus deformities of feet |
Q66.6 |
|
Overlapping toes |
|
|
Pes cavus |
Q667 |
|
Rocker bottom feet |
Q6680 |
|
Clubfoot of postural origin – other cong deformities of feet |
Q668 |
|
Congenital deformity of feet, unspecified |
Q669 |
|
Skin |
|
|
Hemangioma if no treatment is required |
|
|
Pigmented naevus – cong non-neoplastic naevus |
Q82.5 |
|
Neavus flammeus |
Q82.50 |
|
Strawberry naevus |
Q82.51 |
|
Lymphangioma if no treatment is required |
|
|
Angioma |
|
|
Persistent lanugo |
|
|
Mongoloid spot (whites) |
Q82.52 |
|
Depigmented spot |
|
|
Unusual placement of nipples or wide spaced nipples |
|
|
Accessory nipples |
Q83.3 |
|
Accessory skin tags |
Q82.81 |
|
Cafe-au-lait spot |
|
|
Epibulbar dermoid |
|
|
Heterochromia of hair |
|
|
Hypoplasia of toe nails |
Q84.6 |
|
Skeletal |
|
|
Cubitus valgus |
|
|
Prominent sternum or pectus carinatum |
Q67.7 |
|
Prominent sternum |
|
|
Depressed sternum or pectus excavatum |
Q67.6 |
|
Sternum bifidum |
Q76.71 |
|
Shieldlike chest, other cong deformities of chest |
Q67.8 |
|
Congenital deformity of spine |
Q67.5 |
|
Genua valgum |
|
|
Genus varum |
|
|
Genu recurvatum |
Q68.21 |
|
Duplication of ribs |
|
|
Congenital bowing of femur |
Q68.3 |
|
Congenital bowing of fibula and tibia |
Q68.4 |
|
Congenital bowing of long bones of leg, unspecified |
Q68.5 |
|
Congenital bowing of upper limb |
|
|
No ossification of os coccyx |
|
|
Ovoid configuration of vertebrae |
|
|
Spina bifida occulta |
Q76.0 |
|
Sacral dimple |
L05.9 |
|
Cervical rib |
Q76.5 |
|
Fused rib, single |
|
|
Absence of rib or hypoplastic rib |
Q76.60 |
|
Accessory rib |
Q76.62 |
|
Congenital lordosis, postural |
Q76.43 |
|
Abortive 12th rib |
|
|
Coronal clefts of vertebrae, incomplete |
|
|
Bipartite vertebrae |
|
|
Bifid ribs |
|
|
Brain |
|
|
Arachnoid cysts |
|
|
Asymmetric ventricles, normal size |
|
|
Banana shaped cerebellum |
|
|
Cerebellar hypoplasia, mild |
|
|
Cerebral atrophy |
|
|
Cyst of septum pellucidum |
|
|
Enlarged cisterna magna, isolated |
|
|
Jaw-winking syndrome, Marcus Gunn's syndrome |
Q07.80 |
|
Periventricular leukomalacia |
|
|
Single congenital cerebral cyst |
Q04.61 |
|
Thin or hypoplastic corpus callosum |
|
|
Ventriculomegaly less than 15 mm |
|
|
Choroid plexus cysts |
|
|
Anomalies of septum pellucidum |
|
|
Cardiovascular |
|
|
Absence or hypoplasia of umbilical artery, single umbilical artery |
Q27.0 |
|
Absence of vena cava superior |
|
|
Functional or unspecified cardiac murmur |
R01.1 |
|
Cardiomegaly |
I51.7 |
|
Cardiomyopathy |
I42.9 |
|
Deviation of the heart axis |
|
|
Patent ductus arteriosus if GA less than 37 weeks |
Q25.0 if GA less than 37 weeks |
|
Peripheral pulmonary artery stenosis |
Q25.6 if GA less than 37 weeks |
|
Patent or persistent foramen ovale |
Q21.11 |
|
Persistent left superior vena cava |
Q26.1 |
|
Persistent right aortic arch |
Q25.41 |
|
Persistent right umbilical vein |
|
|
Congenital heart block |
Q24.6 |
|
Pulmonary |
|
|
Accessory lobe of lung |
Q33.1 |
|
Congenital laryngeal stridor |
Q31.4 |
|
Laryngomalacia |
Q31.40 |
|
Tracheomalacia |
Q32.0 |
|
Azygos lobe of lung |
Q33.10 |
|
Bronchomalacia |
Q32.2 |
|
Single cyst of the lung |
Q33.00 |
|
Hyperplasia of thymus |
|
|
Pleural effusion |
|
|
Pulmonary hypoplasia, secondary |
|
|
Relaxation of diaphragm |
|
|
Thymus involution |
|
|
Vocal cord palsy |
|
|
Gastro-intestinal |
|
|
Hiatus hernia |
Q40.1 |
|
Abdominal cyst not needing surgery |
|
|
Accessory spleen |
|
|
Choledochal cyst |
Q44.4 |
|
Congenital adrenal hypoplasia |
Q89.11 |
|
Congenital cholestasis |
|
|
Congenital mesenteric cyst |
Q45.83 |
|
Cyst of spleen |
|
|
Dilatation of intestine |
|
|
Hepatomegaly |
R16.0 |
|
Liver cyst |
|
|
Plica of anus |
|
|
Splenomegaly |
|
|
Pyloric stenosis |
Q400 |
|
Diastasis recti |
|
|
Umbilical hernia |
|
|
Inguinal hernia |
K40.9 |
|
Meckel’s diverticulum |
Q43.0 |
|
Functional gastro-intestinal disorders |
Q40.21, Q43.20, Q43.81, Q43.82 |
|
Transient choledochal cyst |
|
|
Anterior anus without surgery |
|
|
Renal |
|
|
Vesico-ureteral-renal reflux |
Q62.7 |
|
Enlarged or thickened bladder |
|
|
Hydronephrosis with a pelvis dilatation less than 10 mm |
|
|
Hyperplastic and giant kidney |
Q63.3 |
|
Single renal cyst |
Q61.0 |
|
External genitals |
|
|
Deficient or hooded foreskin |
|
|
Undescended testicle |
Q53* |
|
Unspecified ectopic testis |
|
|
Retractile testis |
Q55.20 |
|
Hydrocele of testis |
|
|
Phymosis |
|
|
Bifid scrotum |
Q55.21 |
|
Buried penis |
|
|
Congenital chordee |
Q54.4 |
|
Congenital adrenogenital disorders |
E25.0 |
|
Congenital malformation of vulva |
Q52.7 |
|
Congenital torsion of ovary |
Q50.2 |
|
Curvature of penis |
|
|
Hypoplasia of penis or micropenis |
|
|
Hymen imperforate |
Q52.3 |
|
Fusion of labia |
Q52.5 |
|
Prominent labia minora |
|
|
Enlarged clitoris |
|
|
Vaginal skin tag |
|
|
Cysts of vulva |
|
|
Transient ovarian cyst |
|
|
Developmental ovarian cyst(s) |
Q50.1, Q50.10, Q50.11 |
|
Embryonic cyst of broad ligament |
Q50.5 |
|
Foreskin tethered to the scrotum |
N47 |
|
Hypertrophy of hymen |
|
|
Phimosis |
N47 |
|
Seminal vesicle cyst |
|
|
Testicular torsion |
N44 |
|
Other |
|
|
Congenital malformation, unspecified |
Q89.9 |
|
Chromosomal |
|
|
Balanced chromosomal rearrangements |
Q95* |
|
Balanced translocations or inversions in normal individuals |
|
|
Balanced autosomal rearrangement in abnormal individual |
Q95.2 |
|
Individuals with marker heterochromatin |
|
|
Individuals with autosomal fragile site |
|
Table 3. List of exclusions
Down’s syndrome, Edwards’ syndrome and Patau’s syndrome
Source data and completeness
Data in electronic form are regularly sent to NCARDRS by every NHS cytogenetic laboratory in England, giving complete national ascertainment from this data feed. Laboratories follow a specific case definition, to ensure national consistency and data quality. Data are supplied for antenatal and postnatal testing (the latter category including fetal losses as well as livebirths), and for all test methods used in cytogenetics laboratories.
Inclusion and exclusion criteria
All babies with Down’s syndrome, Edwards’ syndrome or Patau’s syndrome delivered in 2019 according to the case definition previously described with a confirmed cytogenetic laboratory diagnosis provided as part of care from NHS and private providers who submit data to NCARDRS are included within this report. This includes results obtained from conventional karyotyping (full or targeted), rapid aneuploidy testing (usually by FISH or QF-PCR), or microarray analysis. All specimen types are included, including prenatal (amniocentesis, chorionic villus sampling, fetal blood), postnatal (blood, buccal swab) and postmortem (solid tissue). Babies with a positive non-invasive prenatal testing (NIPT) and a clinical suspicion of Down’s syndrome, Edwards’ syndrome or Patau’s syndrome based on postnatal phenotype, but with no further testing, are also included in this report.
Last edited: 20 September 2024 11:10 am
