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Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
https://doi.org/10.1186/s12884-025-07640-x BMC Pregnancy and Childbirth
*Correspondence:
Promise E. Sefogah
promees@hotmail.com
Full list of author information is available at the end of the article
Abstract
Background Africa has a high burden of congenital anomalies due in part to limited preconception care, infections,
and environmental exposures. However, the true prevalence of congenital anomalies is unclear because of insucient
access to prenatal diagnostic services. We aimed to determine the rate of congenital anomalies, and characterize the
anomalies detected prenatally at a referral hospital in Ghana.
Methods We performed a four-year retrospective review of all fetal anomaly ultrasounds performed and congenital
anomalies detected from January 1st, 2020, to December 31st, 2023, at Korle Bu Teaching Hospital, Accra, Ghana. Data
were extracted from the electronic database on maternal age, gestational age at time of ultrasound, and occupation.
Detected congenital anomalies were identied, and each anomaly was categorized by ICD-10 code and EUROCAT
classication. Descriptive statistics were performed.
Results The mean maternal age and median gestational age at the time of ultrasound were 31.1 (SD 6.3) years
and 26.9 (IQR 22.5–31.0) weeks, respectively. 3,981 anatomy ultrasounds were performed during the study period,
and 7.0% (280/3,981) of fetuses had anomalies. Most (70.7%, 198/280) had anomalies detected in an isolated organ
system. Anomalies were most identied in the central nervous system (CNS) (45.0%, 126/280), genitourinary (GU)
(28.6%, 80/280), and gastrointestinal (GI) systems (21.8%, 61/280). The most common CNS anomaly identied was
ventriculomegaly (70.6%, 89/126), out of which 26.2% (33/126) had severe ventriculomegaly, with an overall detection
rate of 0.8% (33/3,981). The most common GU anomalies were congenital hydronephrosis (70.0%, 56/80), and
congenital posterior urethral valves (28.8%, 23/80). The most common GI anomalies were exomphalos (49.2%, 30/61),
and duodenal atresia (23.0%, 14/61). Unrelated to a specic organ system, 3.2% (9/280) of cases had hydrops and 6.1%
(17/280) had an associated soft marker of aneuploidy.
Conclusions Our study highlights the substantial burden of congenital anomalies detected through prenatal
ultrasound at a tertiary referral center in Ghana, with a notably high detection rate of severe ventriculomegaly. This
work underscores the feasibility and importance of performing detailed anatomy ultrasounds in Africa. Beyond the
Spectrum of congenital anomalies detected
through anatomy ultrasound at a referral
hospital in Ghana
AlimSwarray-Deen1,2, MorganYapundich3, SarahBoudova4, KwakuDoour-Dapaah1, JeOsei-Agyapong1,
PerezSepenu1, Alex K.Boateng1, Teresa A.Mensah1, PatrickAnum1, Nana EssumanOduro1, TheophilusAdu-Bredu5,
Promise E.Sefogah1,2*, JerryColeman1 and Samuel A.Oppong1,2
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Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
Background
Globally, congenital anomalies affect approximately 1 in
33 infants, resulting in 3.2 million birth defect-related
disabilities annually [1, 2]. In Africa, the burden of con-
genital anomalies is particularly pronounced due to a lack
of preconception care, limited access to prenatal care,
high rates of infectious diseases, nutritional deficiencies,
and environmental exposures [3]. ese anomalies can
lead to fetal demise, neonatal mortality, long-term dis-
abilities, and significant emotional and financial strain on
families. ey also impose substantial costs on healthcare
systems, especially in resource-limited settings where
long-term care for affected children is challenging.
e capacity to detect congenital anomalies during
pregnancy varies widely across the continent. In many
African countries, access to quality prenatal ultrasound
services is restricted by shortages of trained sonogra-
phers, inadequate healthcare infrastructure, and the high
cost of these diagnostic equipment [4–6]. Data on con-
genital anomalies in low- and middle-income countries
(LMICs) are scarce, and most of the available informa-
tion comes from postnatal studies in a limited number
of countries. As a result, the reported prevalence rates of
congenital anomalies in Africa are likely underestimates
of the true burden. is may also be in part due to the
under or missed reporting of congenital anomaly cases
resulting in in-utero or perinatal demise.
Accurate antenatal detection of certain congenital
anomalies is known to improve pregnancy outcomes by
enabling the implementation of appropriate in-utero and
perinatal multidisciplinary monitoring and management
strategies. However, there are significant disparities in the
access to these high-quality services across different geo-
graphic locations around the world. A systematic review
reported significant variability in the frequency of ante-
natal ultrasound examinations, with a median of 50.0%
in Africa compared to 90.7% in Asia [7]. ese dispari-
ties highlight the limited availability of detailed anatomy
scans in many LMICs, which likely contributes to differ-
ences in the reported prevalence of congenital anoma-
lies. Despite advancements in prenatal care, significant
challenges persist in resource-limited settings, including
inadequate training, limited access to high-quality equip-
ment, and inconsistent antenatal care practices [2, 7].
ere is a pressing need to systematically analyze the
spectrum of congenital anomalies detected through pre-
natal ultrasound scans to inform targeted interventions,
enhance counseling for expectant families, and develop
effective public health strategies [2, 8]. Risk factors for
congenital anomalies in LMICs may differ from those
in high-income countries (HICs) due to variations in
genetic, environmental, nutritional, and infectious expo-
sures. Consequently, the prevalence and types of anoma-
lies seen in LMICs may also differ.
Methods
Study site and patient population
is is a four-year facility-based retrospective review of
fetal anatomy ultrasound reports conducted between
January 1, 2020, and December 31, 2023, at Korle Bu
Teaching Hospital (KBTH), a leading tertiary referral
center in Accra, Ghana. KBTH has an average annual
delivery rate of 8,000 births and a broad catchment area
that includes the Greater Accra Region, Central Region,
Eastern Region, and other parts of Ghana. At KBTH, it
is recommended that all pregnant women undergo a
detailed anatomy ultrasound, usually scheduled between
18 and 22 weeks of gestation, or beyond this period, at
the time of referral, to optimize prenatal diagnosis and
care.
e study population comprised all pregnant women
who underwent fetal anatomy ultrasound during the
study period. is included women attending routine
anatomy ultrasounds as well as those referred to KBTH
from other facilities due to suspected anomalies or
abnormal growth findings.
Study procedures
All ultrasounds were performed by maternal-fetal medi-
cine (MFM) consultants or fellows in training who were
certified by the International Society of Ultrasound in
Obstetrics and Gynecology (ISUOG). All practitioners
had completed the ISUOG 20 + 2 guidelines training
for detailed anatomy evaluation and the Fetal Medicine
Foundation course on fetal abnormalities [9]. Most of
the scans were done using a GE LOGIQ 9 ultrasound
machine.
Routine mid-trimester fetal anatomy scans followed
the ISUOG 20 + 2 protocol, which includes a system-
atic assessment of 20 key anatomical structures, supple-
mented by two additional views under specific clinical
indications. Central nervous system (CNS) areas assessed
included the brain, ventricles, midline falx, choroid
plexus, and posterior fossa. Cardiac evaluation involved
the four-chamber view, outflow tracts, and the three-
vessel and trachea view. Abdominal organs examined
clinical benet, these data lay the groundwork for studies to identify the underlying causes of high rates of anomalies
to inform preventive policy and clinical interventions in low-resource settings.
Keywords Ultrasound, Anomalies, Defects, Congenital, Low-middle income country, Low-resource settings,
Ventriculomegaly
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Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
included the stomach, kidneys, and bladder, along with
a detailed assessment of the face profile, orbits, palate,
nose, lips, diaphragm, spine, and extremities.
For suspected anomalies referred from other centers,
targeted detailed morphology scans were performed.
ese extended beyond the standard protocol to include
additional imaging planes, focused biometry, and Dop-
pler interrogation where relevant. Extended neuro-
sonography or comprehensive cardiac assessments were
performed when indicated. All findings were systemati-
cally recorded using standardized templates and subse-
quently reviewed by a senior fetal medicine consultant
for confirmation and quality assurance.
Detailed anatomy ultrasound reports were archived in
a customized Microsoft SQL Server database (2017 ver-
sion), which was established in 2019 as part of the Hospi-
tal’s Maternal-Fetal Medicine Unit’s initiative to enhance
service delivery and training.
e research team comprehensively reviewed each
ultrasound report, including the corresponding ultra-
sound images and videos, to verify the primary diagnosis
and cross-referenced it with the documented ultrasound
findings ensuring accuracy and consistency. Once the
main diagnosis/anomaly was confirmed, it was classified
using the EUROCAT classification system, and a corre-
sponding ICD-10 code was assigned. Coding was per-
formed independently by two trained research assistants
to maintain reliability. Any discrepancies were resolved
through discussion and consensus, while particularly
complex cases were reviewed by the MFM team at KBTH
to determine the final coding. Regular review meetings
were held by the research team to address complex or
ambiguous cases and ensure standardized coding prac-
tices. Severe ventriculomegaly cases were categorized
based on a reported lateral ventricular dilation of ventri-
cle atrial diameter of ≥ 15mm and/or any comment in the
ultrasound report indicating hydrocephalus was present.
All coded data were securely stored in a password-pro-
tected Excel database, with patient identifiers removed
or anonymized for confidentiality. Ethical approval was
obtained from the Institutional Review Board at KBTH
(KBTH-STC 000140/2024).
Maternal demographic data including age, occupation,
residence, and date of delivery was obtained through
chart review. Determination of formal versus informal
employment was adjudicated by study staff. Estimated
gestational age (EGA) at the time of the ultrasound was
calculated from the estimated due date (EDD) reported
on the booking ultrasound scan. For cases with miss-
ing data, efforts were made to contact patients directly
through phone calls using the contact information avail-
able in their medical records. When direct outreach was
unsuccessful, data were marked as missing after multiple
attempts, ensuring transparency and consistency in data
reporting.
Statistical methods
e primary outcome was the rate of congenital anom-
alies, defined as the proportion of fetuses with one or
more anomalies (excluding isolated soft markers and
isolated hydrops), out of the total number of fetuses
who underwent detailed anatomy ultrasound. Multife-
tal pregnancies were included, with each fetus assessed
individually. No multifetal pregnancy had more than one
fetus affected by an anomaly. Isolated cases of hydrops
were excluded unless a structural anomaly was present,
as hydrops can result from non-structural causes such
as immune conditions, anemia, or infection, and our
study focused on structural anomalies. Secondary out-
comes included maternal demographics, the frequency
of anomalies by organ system, the frequency of anomalies
categorized according to ICD-10 code per organ system,
and the frequency of secondary CNS anomalies associ-
ated with ventriculomegaly. Descriptive statistics were
performed for maternal demographics including percent-
ages, medians and interquartile ranges. e frequency
of anomalies by organ system was calculated from the
number of fetuses with an anomaly in each organ sys-
tem out of the total number of fetuses with an anomaly.
e frequency of specific anomalies by ICD-10 code was
calculated from the number of fetuses with a given ICD-
10 code divided by the total number of fetuses with an
anomaly in the corresponding organ system. e fre-
quency of secondary CNS anomalies associated with
ventriculomegaly was calculated by first dividing them
into mild to moderate (10–15mm) versus severe ven-
triculomegaly (≥ 15mm lateral ventricle atrial diameter).
Within these subgroups we then reported the frequency
of fetuses with additional CNS anomaly by their ICD-10
codes. Statistics and graphs were generated using Micro-
soft Excel (2024).
Results
After excluding repeat ultrasounds (n = 29), 3,981 detaile d
anatomy ultrasounds were performed at KBTH from Jan-
uary 1st, 2020, to December 31st, 2023. Anomalies were
detected in 280 (7.0%, 280/3,981) fetuses (Fig.1).
Most cases (70.7%, 198/280) had anomalies detected
in a single organ system, with 131 (46.8%, 131/280) cases
having only an isolated anomaly detected. e mean
maternal age and median estimated gestational age at the
time of ultrasound were 31.1 (SD 6.3) years and 26.9 (IQR
22.5–31.0) weeks, respectively. Most women were mul-
tiparous (83.9%, 167/199) and reported informal employ-
ment status, which refers to work that is not regulated or
protected by formal labor laws—such as petty trading,
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Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
subsistence farming, domestic work, or self-employment
without official registration (68.2%, 148/217) (Table1).
e primary organ systems affected were the central
nervous system (CNS) (45.0%, 126/280), genitourinary
(GU) (28.6%, 80/280), and gastrointestinal (GI) systems
(21.8%, 61/280) (Fig.2).
e most common CNS anomaly ICD-10 code was
“Other specified congenital malformations of brain”
(70.6% of CNS cases, 89/126), which entirely comprised
ventriculomegaly cases. In addition to ventriculomeg-
aly, we identified 9 cases of anencephaly and 6 cases of
spina bifida, which were recorded separately (Appendix
1). Among the ventriculomegaly cases, 33 (37.1%, 33/89)
had severe ventriculomegaly (defined as a lateral ven-
tricle atrial diameter ≥ 15mm). Of these cases of severe
ventriculomegaly (SVM), 25 were isolated cases of SVM
with no other CNS lesion identified, 5 were associated
with spina bifida, 2 with Dandy-Walker Malformation,
and 1 with holoprosencephaly (Table2). Additionally, 8
(24.2%, 8/33) of the SVM cases had no other associated
CNS anomalies. Representative images of SVM captured
at KBTH are shown in Fig.3.
Of the mild-to-moderate ventriculomegaly (VM) cases,
33 (58.9%, 33/56) were isolated with no other associated
CNS malformation identified, 4 (7.1%, 4/56) were associ-
ated with spina bifida, 9 (16.1%, 9/56) with Dandy-Walker
Malformation, and 6 (10.7%, 6/56) with holoprosenceph-
aly (Table2). Additionally, 22 (39.3%, 22/56) of the mild-
to-moderate cases had associated non-CNS anomalies.
Fig. 1 Flow diagram of congenital anomaly report selection process. All detailed anatomy ultrasound reports performed in the four-year study period at
KBTH were isolated, and any report without an anomaly identied or repeat scan for an identical patient was removed. Additionally, isolated soft marker
and hydrops cases were removed to obtain the nal selection of congenital anomaly reports for analysis
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Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
e most common GU anomaly ICD-10 codes were
“Congenital hydronephrosis” (70.0% of GU cases, 56/80)
and “Congenital posterior urethral valves” (28.8% of GU
cases, 23/80). e most common GI anomaly ICD-10
Table 1 Maternal demographic characteristics for fetuses with
congenital anomalies
Demographic Characteristic n (%)
or median
(IQR)
Totaln = 280
Age (years)
(n = 280)
< 25 43 (15.4%)
25–30 91 (32.5%)
31–35 68 (24.3%)
> 35 78 (27.9%)
Paritya
(n = 199)
032 (16.1%)
158 (29.1%)
2–3 81 (40.7%)
≥ 4 28 (14.1%)
Estimated Gestational
Age at Diagnosis (in
weeks)
(n = 280)
< 14wks 3 (1.1%)
14–24wks 87 (31.1%)
> 24wks 190 (67.9%)
Employmentb
(n = 217)
Informal 148 (68.2%)
Formal 53 (24.4%)
Unemployed 16 (7.3%)
a: Only 199 out of the tot al 280 cases had a docume nted parity
b: Only 217 out of the total 280 ca ses had documented emp loyment status
Table 2 CNS congenital anomalies associated with cases of
ventriculomegaly
Associated CNS Anomaly/Lesion Reported
number of
cases (%)
Severe
Ventricu-
lomegaly
(> 15mm)
(N = 33)
No other CNS lesion 25 (75.8%)
Spina bidaa5 (15.2%)
Dandy-Walker Malformation 2 (6.1%)
Holoprosencephaly 1 (3.0%)
Mild to
moderate
Ventriculo-
megaly
(N = 56)
No other CNS lesion 33 (58.9%)
Spina bidaa4 (7.1%)
Congenital cerebral cysts 1 (1.8%)
Holoprosencephaly 6 (10.7%)
Congenital malformations of corpus
callosum
4 (7.1%)
Dandy Walker Malformation 9 (16.1%)
Other congenital malformations of brain 1 (1.8%)
a: one of these c ases was also associated w ith microcephaly
Fig. 2 Congenital Anomalies Identied in Detailed Anatomy Ultrasound by Organ System. Congenital anomalies as identied and reported by ICD-10
and EUROCAT classication were sorted by the organ system aected. The gure reports the absolute number of each reported anomaly, so a fetus with
multiple anomalies may be accounted for multiple times. The top two most prevalent diagnoses were reported for each respective organ system. The
“Other” category includes the combination of all other ICD-10 diagnoses that were not included in the top two most prevalent diagnoses for each organ
system. HEENT: head, eyes, ears, nose, throat system
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Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
codes were “Exomphalos” (49.2% of GI cases, 30/61) and
“Congenital absence, atresia and stenosis of duodenum”
(23.0% of GI cases, 14/61) (Fig.2). Representative images
of congenital hydronephrosis and gastroschisis captured
at KBTH are shown in Fig.4.
Musculoskeletal (MSK) and cardiovascular anomalies
were also identified in 15.4% (43/280) and 10.0% of the
anomaly cases (28/280), respectively. A comprehensive
list of ICD-10 codes and associated EUROCAT classifica-
tion systems for all the identified anomalies is available in
Supplemental Table 1.
Discussion
is study provides the first review of antenatally-
detected congenital anomalies in Ghana, demonstrating
the utility of implementing routine anatomy ultra-
sounds in a resource-limited setting. Among 3,981 ultra-
sounds conducted at Korle-Bu Teaching Hospital over
a four-year period, we identified a 7% rate of congenital
anomalies, with most cases affecting an isolated system
and CNS anomalies being the most common. Our find-
ings highlight the potential impact of prenatal anom-
aly screening in improving the detection of congenital
anomalies particularly in resource-limited settings.
e rate of congenital anomalies in our study (7%) is
higher than reported rates in high-income regions such
as the United States (3.0%) and Europe (2.4%) [10, 11].
Several factors may explain this high rate. First, our study
was conducted in a tertiary referral hospital, where we
receive a high proportion of complicated pregnancies,
including referrals specifically for suspected anomalies.
As such, our data includes both routine mid-trimester
fetal morphology scans and detailed morphology scans
for suspected anomalies, which likely enriched the study
population for abnormalities. Second, like many studies
from Africa, our findings are based on hospital-based
populations, which tend to reflect a higher-risk cohort
compared to the community- or population-based stud-
ies typically conducted in Western countries [12–15].
Additionally, the recent establishment of a maternal-fetal
medicine unit at our center has expanded access to high-
resolution anomaly scanning, contributing to improved
detection rates.
In our study, congenital anomalies were detected in
7.0% of fetuses who underwent anatomy scans. is
detection rate aligns with or exceeds rates reported
from other hospital-based studies in African countries,
including Egypt (7.4%), Ethiopia (18.5%), Kenya (19.4%)
and Nigeria (11.1%) [12–15]. ese figures are mark-
edly higher than population-based prevalence estimates
reported in countries such as India (1.8%), Iran (2.3%),
and the United Kingdom (1.3%) [16–18], likely reflecting
differences in study design, access to diagnostic services,
and underlying risk profiles.
e elevated rates in African contexts may reflect a
combination of environmental and socio-economic fac-
tors. Key risk factors include teratogenic exposures such
as maternal infections (e.g., cytomegalovirus, rubella, and
Fig. 3 Representative ultrasound images identied congenital central nervous system anomalies. (a) Severe ventriculomegaly with dilatation of the
posterior horns of the lateral ventricles (hollow arrows); (b) Severe ventriculomegaly (hollow arrow) with fenestration of the falx cerebri (solid arrow); (c)
Dandy-Walker malformation showing severe hypoplasia of the cerebellar vermis (hollow arrow) and an enlarged fourth ventricle; (d) Vein of Galen mal-
formation presenting as a cystic lesion with bidirectional color ow on Doppler (hollow arrow); (e) Open spina bida with associated myelomeningocele
(hollow arrow); (f) Encephalocele with a large posterior cranial defect (solid arrow) and herniated brain tissue (hollow arrow)
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Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
toxoplasmosis) and environmental pollutants [11]. Addi-
tionally, lack of folic acid supplementation, late initiation
of prenatal care, and the presence of chronic diseases can
further increase the risk of these anomalies. ere may
be genetic factors contributing to these elevated rates,
such as higher rates of inherited abnormalities, founder
effects, or consanguineous marriages. e use of certain
drugs and uncontrolled herbal medications during preg-
nancy adds to these risks, highlighting the need for com-
prehensive prenatal care and public health interventions
[19].
Central nervous system (CNS) anomalies were the
most frequently detected anomalies in our study, com-
prising 45% of cases. Similar trends in CNS anomalies
were observed in Ethiopia (66%) and Kenya (48%) [20,
21]. Our findings particularly highlighted the predomi-
nance of severe ventriculomegaly, where we found 33
cases /3981 total ultrasounds (829 per 100,0000). is
elevated figure is even more pronounced compared to
the reported values in the systematic review by Dewan et
al., where they elucidated the highest incidence of con-
genital hydrocephalus in Africa (145 per 100,000 births)
and Latin America (316 per 100,000 births) compared to
HICs, such as the United States/Canada (68 per 100,000
births) [22]. It is unclear why rates of SVM are nearly
8-fold higher than what has been reported elsewhere in
Africa. One key difference between this meta-analysis
and our data is that the meta-analysis focused on cases
of post-natally diagnosed hydrocephalus whereas this
current study reviewed antenatally diagnosed cases fol-
lowing detailed ultrasounds. It is possible that fetal or
neonatal demise may result in lower reported rates of
infantile hydrocephalus. However, other factors may also
play a role. Future research should explore the genetic,
environmental, and socio-economic factors associated
with SVM, and assess the impact of interventions such as
folic acid supplementation and prevention of infections
known to be associated with CNS anomalies, including
cytomegalovirus, toxoplasmosis, and Zika virus.
Comparatively, genitourinary (GU) anomalies were
the most frequently reported anomalies in studies from
Nigeria and Saudi Arabia, while these ranked second in
our findings (28.6%) [23, 24]. Variations in the distribu-
tion of anomalies across regions may stem from differ-
ences in risk exposures, such as nutritional deficiencies,
infections, or environmental factors, as well as disparities
in healthcare access and diagnostic capabilities. Genetic
factors may also play a role, including undiagnosed inher-
ited conditions, and possible consanguinity.
Limited access to routine antenatal care, diagnostic
resources, and expertise could potentially lead to under-
detection of certain anomalies, resulting in variations
in reported prevalence across regions. Regions with
better-equipped healthcare systems and trained per-
sonnel can identify a broader range of anomalies, while
Fig. 4 Representative ultrasound images of identied congenital gastrointestinal and genitourinary anomalies. (a) Severe (Grade 3) hydronephrosis
with associated ureteral dilation (hollow arrows); (b) Megacystitis (hollow arrow) with a “keyhole sign” indicating posterior urethral valves (solid arrow);
(c) Multicystic dysplastic kidney showing an enlarged, hyperechoic kidney with multiple non-communicating cysts (hollow arrows); (d) “Double bubble”
sign suggestive of duodenal atresia (hollow arrows); (e) Omphalocele with an abdominal wall defect (solid arrow) and herniated viscera enclosed in a
membrane (hollow arrow); (f) Gastroschisis with free-oating bowel loops in the amniotic uid (hollow arrows)
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Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
resource-limited settings may only detect more apparent
conditions.
Interestingly, the detection rate of cardiac anomalies
in our study was relatively low (10.0% of total identified
anomalies) compared to global trends, where cardiovas-
cular defects are commonly reported as the most fre-
quent severe congenital anomalies [7, 25]. is lower
detection rate may reflect limitations in operator exper-
tise and equipment, particularly since diagnosing cardiac
anomalies often requires specialized skills and advanced
imaging techniques like fetal echocardiography. In
resource-limited settings, the lack of trained personnel
and high-resolution equipment makes it challenging to
identify subtle or complex heart defects. ese dispari-
ties highlight the need for targeted training and techno-
logical advancements to improve diagnostic accuracy and
enhance the detection of cardiac anomalies in the Ghana-
ian setting.
e median estimated gestational age at diagnosis in
our study was 26.9 weeks, highlighting a delay compared
to the recommended window of less than 24 weeks ges-
tation for second-trimester anatomy ultrasounds [26].
is delay may be attributed to late initiation of antenatal
care (ANC), as many pregnant women in low-resource
settings face barriers such as significant travel distances
to access ultrasound services or initiate care late in preg-
nancy [27, 28]. e timing of diagnosis plays a critical
role in the subsequent management of fetal anomalies.
Early ultrasound screening (< 14 weeks) can detect up
to 33% of anomalies, with combined first- and second-
trimester ultrasounds improving detection rates to 83%
[26]. However, second-trimester ultrasounds remain
crucial for identifying most structural anomalies, where
major anomalies were primarily detected in the absence
of first-trimester screening programs [26, 29, 30]. e
late timing of detailed anatomy ultrasounds in our cohort
limited the opportunities for early interventions, such
as termination before viability or in-utero management,
including procedures such as in-utero shunting for lower
urinary tract obstruction, and fetal surgery for condi-
tions like spina bifida. Moreover, delayed ultrasounds can
compromise the accuracy of EDDs and EGAs, potentially
impacting pregnancy outcomes by leading to incorrect
assessments of fetal growth, mistimed interventions, or
inappropriate decisions about delivery timing.
A critical challenge to address for improving antena-
tal care in Ghana is ensuring that the infrastructure and
expertise demonstrated in this study can be scaled up
and sustained across the country. While this study suc-
cessfully performed detailed anomaly ultrasounds, this
was made possible by the presence of maternal-fetal
medicine specialists and access to appropriate ultrasound
equipment at this tertiary referral center. While no uni-
versal benchmark exists, estimates from high-resource
settings suggest one MFM specialist per 2,000–5,000
births and one sonographer per 750–1,000 scans per
year [31]. Ghana, with fewer than 15 MFM special-
ists and limited numbers of trained sonographers for a
population exceeding 30million, falls significantly short
of these estimates. Also, the limited availability of high-
quality ultrasound equipment remains significant barri-
ers to widespread implementation [32–34]. Addressing
these challenges through standardized training programs
and investments in diagnostic infrastructure is essential
to replicate the quality of anomaly detection seen in this
study across more facilities in Ghana and similar low-
resource settings.
Strengths and limitations
ere are multiple strengths to this study. First, it is the
only study, to our knowledge, to report on the rate and
spectrum of congenital anomalies identified antenatally
in Ghana, providing essential baseline data for the region.
is addresses a significant knowledge gap in the litera-
ture, and this can help inform clinical practice and health
policy interventions. Second, the study employed a sys-
tematic approach to anomaly identification and classifi-
cation, using ICD-10 and EUROCAT standards to ensure
consistency and accuracy. irdly, the large and diverse
sample size enhances the generalizability of the findings
from this study. Finally, by focusing on antenatal detec-
tion, the study demonstrates the feasibility of perform-
ing detailed anatomy ultrasounds in a resource-limited
setting and highlights the opportunities for pregnancy
termination, preparation for immediate postnatal care,
delivery planning, and patient counseling. is serves
as a model for expanding antenatal care in similar low-
resource regions.
ere are also limitations to this study. Inherent to the
retrospective study design, we were limited by missing
data and the inability to confirm anomalies postnatally,
which may have affected diagnostic accuracy. Addition-
ally, data on the underlying causes of anomalies—such
as genetic, environmental, or infectious etiologies—were
not available for this retrospective analysis. Given the
limited access to digital resources and unreliable inter-
net access, demographic data and other data points such
as gravidity, parity, and EGA were not reported for all
patients. Additionally, most anomalies were detected at
a late gestational age (median: 26.9 weeks). As the fetus
matures, anomalies often become more apparent due to
better anatomical differentiation. However, challenges
such as fetal position and limited imaging windows, par-
ticularly in later gestation, can impact detection rates.
Furthermore, as a referral center, anomalies are often
identified at peripheral facilities and referred to the FMU
for confirmation and management, contributing to the
Content courtesy of Springer Nature, terms of use apply. Rights reserved.
Page 9 of 11
Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
later gestational age at detection. is pattern is consis-
tent with referral practices worldwide.
Although KBTH records approximately 8,000 deliv-
eries annually, only 3,981 detailed anatomy scans were
included in this review. is discrepancy is partly due to
financial barriers, as ultrasound is not covered by Gha-
na’s National Health Insurance Scheme and must be paid
for out-of-pocket. Additionally, some women presented
as referrals in labor, and others with scans from exter-
nal facilities, which were not captured in our database.
As such, the anomaly rate reported reflects only those
scanned at KBTH and does not represent the true preva-
lence in the broader population.
Despite these limitations, our findings have impor-
tant clinical and research implications. On an individual
level, the study provides essential insights into the spec-
trum and rate of congenital anomalies detected through
antenatal ultrasounds, critical for clinicians counsel-
ing affected families and managing these complex preg-
nancies. At the hospital and national levels, the results
inform public health policy for preventive interventions
including public education, and resource allocation that
prioritizes investments in training, diagnostic equipment,
and maternal-fetal medicine services. On a global level,
the study highlights differences in the rates and types of
congenital anomalies between LMICs and HICs. ese
differences are crucial for shaping global health policies,
understanding regional health disparities, and guiding
research into the genetic, environmental, and socio-eco-
nomic factors contributing to anomalies. is knowledge
can help improve prenatal care worldwide and inform
future research aimed at reducing the burden of congeni-
tal anomalies in LMICs.
e differences in the prevalence of congenital anom-
alies between LMICs and HICs highlight the need
for region-specific approaches to patient counseling,
resource allocation, and research prioritization. Future
research should investigate the causes of congenital
anomalies in Ghana, focusing on genetic, environmental,
and infectious factors. Postnatal follow-up and long-term
outcome studies are needed to understand the natural
history and impact of these conditions. KBTH serves
as a model for demonstrating the feasibility of conduct-
ing high-quality anomaly ultrasounds in LMICs, despite
resource constraints. By categorizing anomalies by
organ system and identifying trends, this research lays
the groundwork for improving prenatal diagnostics, and
corrective/therapeutic interventions in appropriately
selected cases to optimize newborn outcomes.
Conclusions
We report a 7% rate of congenital anomalies at the larg-
est referral hospital in Ghana. ere was a variety of con-
genital abnormalities seen, with a significant proportion
(70%) identified in the CNS, and a particularly high fre-
quency of severe ventriculomegaly. is study demon-
strates, that with access to the appropriate ultrasound
technology, LMICs, such as Ghana, can identify these
anomalies during the antenatal period. Timely antenatal
diagnosis of such anomalies is critical to allow for patient
decision-making, intervention, and planning. Given
the significant number of patients currently receiving
detailed anatomy ultrasounds late in pregnancy, after the
period of feasible intervention, more concerted efforts
are needed to encourage and complete such screening
procedures earlier in pregnancy in Ghana. Additionally,
given the high rate of CNS abnormalities among this
patient population, further research is needed to inves-
tigate the inciting genetic, environmental, and infectious
factors, as well as other factors contributing to such high
rates of congenital anomalies.
Abbreviations
CNS Central nervous system
GU Genitourinary
GI Gastrointestinal
LMICs Low- and middle-income countries
HICs High-income countries
KBTH Korle Bu Teaching Hospital
MFM Maternal-fetal medicine
ISUOG International Society of Ultrasound in Obstetrics and Gynecology
EGA Estimated gestational age
EDD Estimated due date
HEENT Head, eyes, ears, nose, throat system
VM Ventriculomegaly
SVM Severe ventriculomegaly
Supplementary Information
The online version contains supplementary material available at h t t p s : / / d o i . o r
g / 1 0 . 1 1 8 6 / s 1 2 8 8 4 - 0 2 5 - 0 7 6 4 0 - x.
Supplementary Material 1
Acknowledgements
We would like to express our sincere gratitude to Cheryl Moyer from the
University of Michigan, who served as the Fogarty Mentor to both Alim
Swarray-Deen and Morgan Yapundich, for her invaluable guidance and
mentorship throughout the research process.We would also like to thank the
maternal-fetal medicine physicians and support sta at the Comprehensive
Fetal Diagnostic Center at Korle-Bu Teaching Hospital, whose work helped to
support this study and improve the health of Ghanaians.
Author contributions
ASD, PES, JC and SAP co-designed the study. ASD, MY, KDD, JOA, PS, AKB, TAM,
PA, NEO participated in proposal writing and data collection. MY performed
the data analysis. ASD & SB participated in data analysis and review. SB
supervised proposal writing, data collection, and manuscript drafting. ASD,
MY, and SB drafted the initial manuscript. KDD, JOA, PS, AKB, TAM, PA, NEO,
PES, TAB, JC and SAO reviewed the manuscript. All authors participated in
manuscript writing and review and have approved the nal manuscript for
submission.
Funding
Alim Swarray-Deen and Morgan Yapundich were supported by the National
Heart, Lung, and Blood Institute and the Fogarty International Center of the
National Institutes of Health under grant #D43TW009345, awarded to the
Northern Pacic Global Health Fellows Program. Morgan Yapundich also
Content courtesy of Springer Nature, terms of use apply. Rights reserved.
Page 10 of 11
Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
acknowledges nancial support from the Fulbright U.S. Student Program,
sponsored by the U.S. Department of State. The contents of this research are
solely the responsibility of the authors and do not necessarily represent the
ocial views of the Fulbright Program, the National Institutes of Health, or the
Government of the United States.
Data availability
The datasets generated and/or analyzed during the current study are not
publicly available in order to maintain participant privacy but are available
from the corresponding author on reasonable request.
Declarations
Ethics approval and consent to participate
This study was approved by the Korle-Bu Teaching Hospital Institutional
Review Board (IRB) (KBTH-STC 000140/2024). As this was a retrospective
study utilizing anonymized data from medical records, the requirement for
individual informed consent was waived by the IRB in accordance with KBTH
guidelines. We conrm that the study was performed in accordance with the
ethical standards as laid down in the 1964 Declaration of Helsinki and its later
amendments or comparable ethical standards.
Consent for publication
Not applicable.
Competing interests
The authors declare no competing interests.
Corresponding author
Promise E. Sefogah, promees@hotmail.com.
Author details
1Department of Obstetrics & Gynaecology, Korle Bu Teaching Hospital,
Accra, Ghana
2Department of Obstetrics & Gynaecology, University of Ghana Medical
School, Accra, Ghana
3Wake Forest University School of Medicine, Winston-Salem, NC, USA
4Department of Obstetrics and Gynecology, Division of Maternal-Fetal
Medicine, Thomas Jeerson University, Philadelphia, PA, USA
5Nueld Department of Women’s and Reproductive Health, University of
Oxford, Oxford, UK
Received: 2 March 2025 / Accepted: 21 April 2025
References
1. Organization WH. Congenital disorders 2023 [Available from: h t t p s : / / w w w . w h
o . i n t / n e w s - r o o m / f a c t - s h e e t s / d e t a i l / b i r t h - d e f e c t s
2. Zaki U, Qazi SH, Shamim U, Fatima S, Das JK, Bhutta ZA. Optimal Strategies for
Screening Common Birth Defects in Children of Low- and Middle-Income
Countries: A Systematic Review. Neonatology. 2024:1–21.
3. Moges N, Anley DT, Zemene MA, Adella GA, Solomon Y, Bantie B, et al.
Congenital anomalies and risk factors in Africa: a systematic review and
meta-analysis. BMJ Paediatrics Open. 2023;7(1):e002022.
4. Yetwale A, Kabeto T, Biyazin T, Fenta B. Prenatal ultrasound utilization and
its associated factors among pregnant women in Jimma town pub-
lic health institutions, Ethiopia. Health Serv Res Managerial Epidemiol.
2022;9:233339282210858.
5. Aliyu LD, Kurjak A, Wataganara T, De Sá RAM, Pooh R, Sen C et al. Ultrasound
in Africa: what can really be done? J Perinat Med. 2016;44(2).
6. Luntsi G, Ugwu AC, Nkubli FB, Emmanuel R, Ochie K, Nwobi CI. Achieving
universal access to obstetric ultrasound in resource constrained settings: A
narrative review. Radiography (Lond). 2021;27(2):709–15.
7. Goley SM, Sakula-Barry S, Adofo-Ansong N, Isaaya Ntawunga L, Tekyiwa
Botchway M, Kelly AH, et al. Investigating the use of ultrasonography for
the antenatal diagnosis of structural congenital anomalies in low-income
and middle-income countries: a systematic review. BMJ Paediatr Open.
2020;4(1):e000684.
8. Kamla I, Kamgaing N, Billong S, Tochie JN, Tolefac P, de Paul Djientcheu V.
Antenatal and postnatal diagnoses of visible congenital malformations in a
sub-Saharan African setting: a prospective multicenter cohort study. BMC
Pediatr. 2019;19(1):457.
9. Salomon LJ, Alrevic Z, Berghella V, Bilardo CM, Chalouhi GE, Da Silva
Costa F, et al. ISUOG practice guidelines (updated): performance of the
routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol.
2022;59(6):840–56.
10. Parker SE, Mai CT, Caneld MA, Rickard R, Wang Y, Meyer RE, et al. Updated
National birth prevalence estimates for selected birth defects in the united
States, 2004–2006. Birth Defects Res Clin Mol Teratol. 2010;88(12):1008–16.
11. Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe.
Adv Exp Med Biol. 2010;686:349–64.
12. ElAwady H, AlGameel A, Ragab T, Hassan N. Congenital anomalies in neo-
nates in Fayoum Governorate, Egypt. East Mediterr Health J. 2021;27(8):790–7.
13. Birhanu K, Tesfaye W, Berhane M. Congenital anomalies in neonates admitted
to a tertiary hospital in Southwest Ethiopia: A cross sectional study. Ethiop J
Health Sci. 2021;31(6):1155–62.
14. Wagathu ROA. Describing congenital anomalies among newborns in Kenya:
A hospital based study. Int J Health Sci Res. 2019;9(4).
15. Adeboye M, Abdulkadir M, Adegboye O, Saka A, Oladele P, Oladele D et al.
A Prospective Study of Spectrum, Risk Factors and Immediate Outcome of
Congenital Anomalies in Bida, North Central Nigeria. Annals of Medical and
Health Sciences Research. 2016;6(6).
16. Rankin J, Pattenden S, Abramsky L, Boyd P, Jordan H, Stone D, et al. Prevalence
of congenital anomalies in ve British regions, 1991-99. Arch Dis Child Fetal
Neonatal Ed. 2005;90(5):F374–9.
17. Bhide P, Kar A. A National estimate of the birth prevalence of congenital
anomalies in India: systematic review and meta-analysis. BMC Pediatr.
2018;18(1):175.
18. Vatankhah S, Jalilvand M, Sarkhosh S, Azarmi M, Mohseni M. Prevalence
of congenital anomalies in Iran: A review Article. Iran J Public Health.
2017;46(6):733–43.
19. Adane F, Afework M, Seyoum G, Gebrie A. Prevalence and associated factors
of birth defects among newborns in sub-Saharan African countries: a system-
atic review and meta-analysis. Pan Afr Med J. 2020;36:19.
20. Mogess WN, Mihretie TB. Prevalence and associated factors of congenital
anomalies in Ethiopia: A systematic review and meta-analysis. PLoS ONE.
2024;19(4):e0302393.
21. Onyambu CK, Tharamba NM, Onyambu CK, Tharamba NM. Screening for con-
genital fetal anomalies in low risk pregnancy: the Kenyatta National hospital
experience. BMC Pregnancy Childbirth. 2018;18:1. 2018-05-23;18(1).
22. Dewan MC, Rattani A, Mekary R, Glancz LJ, Yunusa I, Baticulon RE, et al. Global
hydrocephalus epidemiology and incidence: systematic review and meta-
analysis. J Neurosurg. 2019;130(4):1065–79.
23. Akinmoladun JA, Ogbole GI, Lawal TA, Adesina OA. Routine prenatal
ultrasound anomaly screening program in a Nigerian university hospital:
redening obstetrics practice in a developing African country. Niger Med J.
2015;56(4):263–7.
24. Eltyeb EE, Halawi MHA, Tashari TBM, Alharbi K, Alsayari OS, Albarrak DA, et al.
Prevalence and pattern of birth defects in Saudi Arabia: A systematic review
of observational studies. Pediatr Rep. 2023;15(3):431–41.
25. Boyd PA, Tonks AM, Rankin J, Rounding C, Wellesley D, Draper ES, et al.
Monitoring the prenatal detection of structural fetal congenital anomalies in
England and Wales: register-based study. J Med Screen. 2011;18(1):2–7.
26. Buijtendijk MF, Bet BB, Leeang MM, Shah H, Reuvekamp T, Goring T, et al.
Diagnostic accuracy of ultrasound screening for fetal structural abnormalities
during the rst and second trimester of pregnancy in low-risk and unselected
populations. Cochrane Database Syst Rev. 2024;5(5):CD014715.
27. Amoah B, Anto EA, Osei PK, Pieterson K, Crimi A. Boosting antenatal care
attendance and number of hospital deliveries among pregnant women in
rural communities: a community initiative in Ghana based on mobile phones
applications and portable ultrasound scans. BMC Pregnancy Childbirth.
2016;16(1):141.
28. Sendra-Balcells C, Campello VM, Torrents-Barrena J, Ahmed YA, Elattar M,
Ohene-Botwe B, et al. Generalisability of fetal ultrasound deep learning
models to low-resource imaging settings in ve African countries. Sci Rep.
2023;13(1):2728.
29. Bardi F, Bergman JEH, Bouman K, Erwich JJ, Duin LK, Walle HEK, et al. Eect
of prenatal screening on trends in perinatal mortality associated with
congenital anomalies before and after the introduction of prenatal screening:
Content courtesy of Springer Nature, terms of use apply. Rights reserved.
Page 11 of 11
Swarray-Deen et al. BMC Pregnancy and Childbirth (2025) 25:500
A population-based study in the Northern Netherlands. Paediatr Perinat
Epidemiol. 2021;35(6):654–63.
30. Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT. Systematic review of
First-Trimester ultrasound screening for detection of fetal structural anoma-
lies and factors that aect screening performance. Obstet Gynecol Surv.
2018;73(4):185–7.
31. Rayburn WF, Klagholz JC, Elwell EC, Strunk AL. Maternal-fetal medicine work-
force in the united States. Am J Perinatol. 2012;29(9):741–6.
32. Sun H, Wu A, Lu M, Cao S. Liability, risks, and recommendations for ultrasound
use in the diagnosis of obstetrics diseases. Heliyon. 2023;9(11):e21829.
33. Gorleku PN, Setorglo J, Ofori I, Edzie EKM, Dze-Tettey K, Piersson AD et
al. Towards the scale and menace of unregulated sonography practice in
Ghana. J Global Health Rep. 2020;4.
34. Gadeka DD, Esena RK. Barriers to quality care in medical imaging at a
teaching hospital in Ghana: sta perspective. J Med Imaging Radiat Sci.
2020;51(3):425–35.
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