Nigerian Journal of Paediatrics

An 8year review of major congenital abnormalities in a tertiary hospital in Lagos Nigeria

Niger J Paediatr 2016; 43 (3):175 – 179

ORIGINAL

Fajolu IB

An 8-year review of major

Ezenwa B

congenital abnormalities in a

Akintan P

tertiary hospital in Lagos, Nigeria

Ezeaka VC

DOI:http://dx.doi.org/10.4314/njp.v43i3.4

Accepted: 4th May 2016

Abstract : Background:

(42.5%) were females, 91 (54.5%)

Congenital abnormalities are de-

were male and 5(3.0%) had inde-

Fajolu IB (

)

fects present at birth and are in-

terminate sex. There was an in-

Ezenwa B, Akintan P, Ezeaka VC

creasingly becoming an important

crease in the yearly incidence from

Department of Paediatrics

College of Medicine, University of

cause of neonatal mortality. They

2007-2014

Lagos

can also result in disability in ma-

The most frequent abnormalities

Idi-Araba, Lagos, Nigeria.

jority of the survivors.

were in the central nervous system

Email: iretifaj@yahoo.co.uk

Objective: To describe the pattern

(31.7%), musculoskeletal system

and outcome of major congenital

(18.6%), complex congenital ab-

abnormalities (MCA) in a tertiary

normalities group (15.5%) and

hospital in Lagos, Nigeria.

urogenital system (11.4%). Fifty

Methods: The labour ward and

six (31.8%) infants died in the first

labour ward theatre delivery re-

week of life contributing 12.6% to

cords and admission records of

the overall early neonatal mortality

the in-born ward of the neonatal

during the study period. Overall

unit of a tertiary hospital were

case fatality rate was 42.0%; case

reviewed

retrospectively from

fatality was highest in the other

January 2007 to December 2014.

abnormalities group, followed by

The MCA were classified accord-

chromosomal, cardiovascular and

ing to the 10 revision of the In-

genitourinary system abnormalities

ternational Statistical Classifica-

respectively.

tion of Diseases and Related

Conclusion: The incidence of

Health Problems, (ICD-10). Mul-

MCA in this study is high espe-

tiple abnormalities were counted

cially in the central nervous sys-

once by the system with the most

tem. There was a steady increase

major anomaly. Abnormalities

in the yearly incidence during the

were grouped according to organ

study period. The overall case fa-

systems, sex and yearly distribu-

tality rate was also very high with

tion. Statistical analysis was based

a high contribution to early neona-

on systemic type, and neonatal

tal deaths

outcome.

Results: Out of 14581 deliveries

Keywords: Congenital abnormali-

during the study period, 167 had

ties; Early neonatal death; Lagos;

MCA, giving an incidence

Nigeria; Teratogens.

11.5 per 1000 total births; 71

Introduction

genital abnormalities although the frequency and type

may vary. Globally, congenital disorders are estimated

Congenital anomalies also known as birth defects, are

to be present in 7% of all births, with a total of 9 million

structural or functional abnormalities, including meta-

babies born annually with major congenital abnormali-

ties which can result in death or lifelong disability.

bolic disorders, which are present from birth, irrespec-

tive of whether the defect is caused by a genetic factor

or by prenatal events that are not genetic . These prena-

Between 2003 and 2007, the European Surveillance for

tal events can result in an arrest, delay or misdirection in

Congenital Anomalies (EUROCAT) in 22 countries

the development of a structure early in embryonic life

reported a incidence of 23.9 per 1000 births with 80% of

births being live births. In Nigeria, the reported inci-

with a resultant permanent effect. Congenital abnormali-

ties can be minor with minimal or no risk for disability

dence of congenital abnormalities vary from 2.1 to5.1%

amongst live births in Northern Nigeria to 15.9% of all

4,5

or death, or major with a significant risk of morbidity

births (including still births) in South west Nigeria.

and mortality. All population share the burden of con-

176

Congenital abnormalities are a major cause of infant

All babies delivered in the hospital are examined in the

morbidity and mortality and they were reported to have

labour ward or in the postnatal ward by a paediatric resi-

contributed 276,000 deaths (4·4%) in the neonatal pe-

dent doctor; those with abnormalities or with clinical

riod globally in 2013. They may also result in long term

features suggestive of abnormalities are identified and

disabilities which will ultimately have a significant im-

admitted in the neonatal unit for investigation and man-

pact on the child, family, health care system and the

agement. Other babies with other conditions requiring

society at large.

further care are also admitted. The diagnosis of congeni-

These abnormalities may be caused by environmental

tal abnormality was made by clinical examination and /

factors such as irradiation, smoking and alcohol con-

or imaging studies (x-ray, ultrasound, magnetic reso-

sumption in the mother,

8,9

or are inherited via abnormal

nance imaging or computerized tomographic scan) as

genes from the carrier or affected parent. Lack of access

indicated. Major congenital abnormalities were defined

to medical care, malnutrition, environmental exposure to

as abnormalities that are life threatening or has the po-

smoke, alcohol, irradiation, chemical and drugs are im-

tential of causing disability.

portant factors in the occurrence of congenital anoma-

lies. The presence of a major congenital abnormality in a

The major congenital abnormalities were then classified

by systems according to the 10 Revision of the Interna-

foetus or new-born evokes emotional parental responses

that require sensitive counselling, hence early recogni-

tional Statistical Classification of Diseases and Related

Health Problems, (ICD-10); multiple congenital abnor-

tion of these anomalies is important in planning care for

the baby and support for the family to minimise the risk

malities were counted only once by the system with the

of abuse.

most major anomaly. The congenital abnormalities were

further grouped according to organ and systems and by

With increasing industrialization, worsening poverty,

sex and analyzed on yearly distribution. The abnormali-

self-medication practices, patronage of traditional birth

ties were analysed on the basis of anatomical and sys-

attendants and ingestion of herbal concoctions by preg-

temic type, and also on the basis of neonatal outcome.

nant women in developing countries like Nigeria; preg-

Data were analysed using the statistical package of so-

nant women are more likely not to take routine antenatal

cial sciences (SPSS) version 22; frequencies and per-

drugs like folic acid which has been shown to prevent

centages were generated; the student t-test and chi

abnormalities like neural tube defects. They are also

square were used as tests of statistical significance and a

more likely to be exposed to infections like syphilis that

p value of <0.05 was considered as significant.

increase the risk of congenital abnormalities. There is

Ethical approval was obtained from the Health research

therefore a need for continuous update on the types of

and ethics committee of the Lagos University Teaching

MCA in our environment. This is required in order to

Hospital.

follow the trend and variability so as to aid policy deci-

sions especially in the area of prevention and provision

of care and support for the affected children and their

families and also help in counselling affected families.

Results

While a considerable reduction in cases of congenital

abnormalities have been achieved in the developed

During the eight year review period, there were 14581

countries; more than 90% of births and 95% of deaths of

deliveries and 167 of these infants had major congenital

children with congenital abnormalities occur in develop-

abnormalities giving an incidence of 11.5 per 1000 total

ing countries. The aim of this study therefore is to de-

births. There were 71 (42.5%) female, 91 (54.5%) male

scribe the pattern and outcome of major congenital ab-

and 5(3.0%) with indeterminate sex. Fifty-seven

normalities in babies delivered at a tertiary hospital in

(34.1%) of these neonates were born before 37 com-

Lagos.

pleted weeks of gestation.

The yearly incidence of congenital abnormalities is

shown in Figure 1; the incidence of congenital abnor-

malities increased over the past eight years of review

Methodology

with the 2014 incidence-(2.17/1000 live births) being

greater than five times the 0.37/1000 live births seen in

The labour ward and theatre records of all deliveries and

2007.

the admissions records of all neonates with major con-

genital abnormalities admitted into the inborn ward of

Fig 1: Trend in yearly congenital abnormality rates

the neonatal unit of the Lagos University Teaching Hos-

pital from January 2007 to December 2014 were re-

viewed retrospectively. The hospital has a radiology

department that is equipped with facilities for X-ray,

ultrasound scan, computerized tomographic scan and

magnetic resonance imaging. The department of paediat-

rics in the hospital has an echocardiogram machine with

neonatal probes for diagnosing structural abnormalities

of the heart. The hospital has facilities for neurosurgical,

paediatric surgical and urological surgeries.

177

Seventy of the newborns with congenital abnormalities

Table 2: Case fatality rates in major congenital abnormalities

died, giving a case fatality rate of 42.0%. Fifty six of

distributed according to specific systems/groups

these deaths were early neonatal deaths and they ac-

System

No of

Early neo-

Case fatality

counted for 12.6% of the overall 446 early neonatal

cases

deaths

natal deaths

Rate

deaths during the study period.

(N=167)

(N=70)

N (%)

(%)

Central nervous

9 (69.3)

24.5

All the cases requiring surgical intervention were co-

Cardiovascular

3 (100)

42.9

managed with the surgeons; some were managed conser-

Respiratory

1 (100)

20.0

Digestive

6 (66.7)

56.3

vatively, some had surgeries, some either died before

Urogenital

4 (80.8)

31.6

surgery or had to be discharged to allow parents source

Musculoskeletal

10 (83.3)

40.0

for funds for surgery later as there are currently no free

Chromosomal

4 (80.0)

45.5

services for children in the hospital.

Others

19 (90.5)

80.8

The ICD-10 classification of the abnormalities is shown

in Table 1; the systems with the most frequent abnor-

malities were the central nervous (31.7%), muscu-

Discussion

loskeletal (18.0%) and the urogenital systems (11.4%)

and digestive (9.6%) systems respectively. Complex

The overall incidence of congenital abnormality during

abnormalities that did not fall in any system (classified

the study period was 11.5 per 1000 total births. This is

as other abnormalities by ICD-10 system) also contrib-

lower than the 15.8 per1000 total births reported by

uted 15.5% to the total number of cases seen.

Iroha et al in a study in Lagos, Nigeria 20 years ago

Table 2 shows the case fatality rates and the percentages

and the 24 per 1000 births reported in Lebanon

of deaths that were early neonatal deaths in the various

2009. The slightly higher rate in the earlier study in La-

groups of abnormalities. The case fatality rates were

gos may be due to the fact that it included results of au-

highest in the other abnormalities group, followed by the

topsy of neonates that died while this present study did

digestive system, chromosomal abnormality and cardio-

not. The incidence from Lebanon rates was quite high

vascular system, while all the deaths in the respiratory

and may be explained by the significant number of con-

and cardiovascular systems were early neonatal deaths.

sanguinity reported amongst parents of infants with

MCA and also the significant number of mothers who

Table 1: ICD-10 classification of congenital abnormalities

seen in Lagos University Teaching Hospital.

consumed alcohol amongst the MCA group.

ICD 10 Classification

Percentage

The incidence of MCA in this study was higher than the

Q00-Q07-CNS

31.7

rates reported from studies from Northern and Southern

Dysraphism (7 Spina bifida, 3 encepha-

Nigeria done over a decade ago with an incidence of

locoele)

5.5/1000 births and 4.0/1000 births

Hydrocephalus (5 with spina bifida)

respectively. The

Anencephaly

explanation for this difference is not very clear as con-

Poroencephaly

sanguinity which has been associated with congenital

Q20-28-Respiratory system

3.0

abnormalities is common in Northern Nigeria and the

Pulmonary hypoplasia

Southern part of Nigeria where the other study

Choanal atresia

was

Laryngomalacia

done is an oil producing area with a higher risk of envi-

Q30-34- Cardiovascular system

4.2

ronmental pollution; thus a higher incidence would have

Dextrocardia

been expected in these areas. Both studies were however

Acyanotic congenital disease

Cyanotic congenital cardiac disease

done over a decade ago. A study from Iran done about

Venous abnormalities

the same period with the current study (2004-2012)

Q35-Q45 - Digestive system

9.6

however reported a similar incidence (11.2/1000

Cleft lip and cleft palate

births).

Intestinal atresia

Imperforate anus

There was an increase in the yearly incidence during the

Q50-Q64-Urogenital system

11.4

study period with the incidence for the year 2014 being

Ambiguous genitalia

over 5 times that of 2007. The reason for this may be the

Posterior urethral valve

problems of urbanisation such as exposure to environ-

Multicystic kidneys

Hypospadias

mental pollution and modernisation including exposure

Hydronephrosis

to radiation from electronic gadget such as mobile

Undescended testes

phones and computers with its attendant effects on the

Q65-Q79-Musculoskeletal system

18.0

populace. The association of environmental pollutants

Skeletal dysplasias

Limb abnormalities

such as heavy metals, pesticides and hydrocarbons with

congenital abnormalities have been documented. It is

Abdominal wall defects

Prune belly syndrome

therefore expected that the incidence in more industrial-

Craniosynostosis

ised countries should be high; however low rates are

Q80-Q89-Other anomalies (Conjoined

15.5

twins, complex anomalies )

reported. This could be misleading considering the fact

Q90-Q99-Chromosomal

6.6

that facilities for prenatal diagnosis are available with

Trisomy 21

the option of termination of any pregnancy with the di-

Edward’s syndrome

agnosis of congenital abnormality. This is exemplified

Others

178

in the EUROCAT study where 53% and 33% of spina

above are more important contributors of mortality in

bifida and Downs syndrome were prenatally diagnosed

developing countries like Nigeria, it appears that the

and terminated.

incidence of congenital abnormalities is rising. Thus

reducing the incidence of MCA will go a long way to

In Nigeria, many women do not attend antenatal care

reduce the infant mortality rate and also reduce the num-

clinics and when they do, they register late usually after

ber of affected families who have to cope with either the

the first trimester when organogenesis would have been

loss of a child or bear the burden and stigma of caring

completed; thus they miss out on early commencement

for a disabled child. In addition, this will also reduce the

of folic acid which is known to protect against neural

burden on the community and nation as a whole. A

tube defects which had the highest occurrence in this

good starting point for the above will be commencement

study. Neural tube defects were also the most common

of surveillance for congenital abnormalities in all coun-

abnormality in some earlier studies.

4,12

tries so as to have a database of the pattern and possible

aetiology of these congenital abnormalities.

The system with the highest frequency of abnormalities

in some other Nigerian studies was the gastrointesti-

nal.

5,16

This may be due to difference in the classifica-

tion of disorders; the current study used the ICD-10 sys-

Conclusion

tem which is recommended for uniformity in disease

classification while other studies did not state the

The incidence of congenital abnormalities in Lagos Uni-

method used in the classification. One of the studies

versity Teaching Hospital has increased over the past

classified omphalocoele under gastrointestinal abnor-

eight years with a greater than 5-fold increase from 2007

malities while ICD-10 classifies it under the muscu-

to 2014; the commonest system affected was the central

loskeletal system. This is of importance if a congenital

nervous system. Congenital abnormalities also contrib-

abnormality database is to be created so that entries

uted significantly to perinatal mortality.

made are the same for specific abnormalities using stan-

dard classification systems.

It is therefore important to educate the populace on sim-

ple preventive measures such as folic acid use even be-

The overall case fatality for congenital abnormalities

fore conception and avoidance of possible teratogens

was 42%, however when the different systems were

such as exposure to radiation (including telephone re-

analysed, the case fatality was highest in the other ab-

lated radiation), alcohol, certain drugs, tobacco, pesti-

normalities group, most of the babies in this group had

cides and infections like syphilis as these may go a long

complex congenital abnormalities that were not com-

way in reducing the incidence of congenital abnormali-

patible with life and 90.5% of these deaths were early

ties. There is need for further studies to determine the

neonatal deaths. All the deaths in the cardiovascular and

risk factors, possible causes for this increasing incidence

respiratory systems were early neonatal deaths and oc-

and also the burden of care of these children on the fam-

curred before any surgical intervention could be

ily and community. In addition, a national database for

planned. Eighty percent of the deaths among the neo-

congenital abnormalities needs to be opened and mor-

nates with MCA occurred in the first week of life, con-

bidity in these children should also be documented so as

tributing significantly to the early neonatal deaths during

to plan and advocate for adequate care for these vulner-

the study period; thus interventions to reduce the inci-

able children.

dence of congenital abnormalities will go a long way in

reducing overall under- five mortality.

Most developed countries have tackled sepsis; have im-

Acknowledgement

proved services for care of the preterm infant and better

access to both antenatal and neonatal care services;

The authors wish to thank the residents and the intern

hence congenital abnormalities now rank high as cause

doctors that assisted in data collection.

of infant mortality. Even though these factors mentioned

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