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 Table of Contents  
ORIGINAL ARTICLE
Year : 2022  |  Volume : 29  |  Issue : 1  |  Page : 15-21

Epidemiological profile of congenital anomalies detected during antenatal ultrasound in three imaging centers in the city of Ouagadougou


1 Department of Medical Imaging and Interventional Radiology, CHU Bogodogo; Department of Medicine of the Faculty of Health Sciences, Training and Research Unit, Joseph Ki-Zerbo University, Ouagadougou, Burkina Faso
2 Department of Medical Imaging and Interventional Radiology, CHU Bogodogo, Ouagadougou, Burkina Faso
3 Department of Medicine of the Faculty of Health Sciences, Training and Research Unit, Joseph Ki-Zerbo University; Department of Radiology, CHU Pediatric Charles de Gaulle, Ouagadougou, Burkina Faso
4 Department of Medicine of the Faculty of Health Sciences, Training and Research Unit, Joseph Ki-Zerbo University; Department of Radiology, CHU Yalgado Ouédraogo, Ouagadougou, Burkina Faso

Date of Submission13-Sep-2021
Date of Acceptance27-Jun-2022
Date of Web Publication15-Nov-2022

Correspondence Address:
Dr. Benilde Marie-Ange Tiemtore-Kambou
CHU Bogodogo, 11 Bp 1652, Ouaga CMS 11, Ouagadougou
Burkina Faso
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/wajr.wajr_33_21

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  Abstract 


Objectives: To study congenital anomalies discovered during antenatal care in three medical imaging centers in the city of Ouagadougou. Specifically, the aim was to determine the prevalence of antenatal malformations on ultrasound, to identify the different types of malformations detected and to determine the average gestational age (GA) of discovery of CAMs in our context.
Materials and Methods: This was a retrospective and prospective multicenter cross-sectional study conducted in the imaging departments of the following three health facilities: the University Hospital of Bogodogo (CHUB), the Nina Polyclinic, and the Yati Medical Clinic. The study was carried out from January 1, 2016, to October 31, 2019. It included all women who had a fetal malformation during obstetrical ultrasound performed during the study period.
Results: Fetal malformations represented 1.10% of all obstetric ultrasounds performed in the three medical imaging centers in the city of Ouagadougou. The mean GA of discovery of CAMs was 27 weeks 2 days. The most common malformations were (in decreasing order) the central nervous system (67.10%), the urogenital system (18.62%), the abdomen (14.72%), the digestive system (13.85%), the skeleton (13.42%), the cardiovascular system (8.23%), and the respiratory system (5.19%). An abnormality of the amniotic fluid was associated with 35.50% of the malformations detected.
Conclusion: The prevalence of congenital anomaly in our study is similar to that of other studies and obstetric ultrasound plays a key role in its early antenatal diagnosis”.

Keywords: Antenatal diagnosis, congenital anomalies, obstetrical ultrasound


How to cite this article:
Tiemtore-Kambou BM, Nde-Ouedraogo NA, Lamien PD, Sieba IF, Kere-Nidjergou L, Bayala D, Koama A, Napon AM, Diallo O, Cisse R. Epidemiological profile of congenital anomalies detected during antenatal ultrasound in three imaging centers in the city of Ouagadougou. West Afr J Radiol 2022;29:15-21

How to cite this URL:
Tiemtore-Kambou BM, Nde-Ouedraogo NA, Lamien PD, Sieba IF, Kere-Nidjergou L, Bayala D, Koama A, Napon AM, Diallo O, Cisse R. Epidemiological profile of congenital anomalies detected during antenatal ultrasound in three imaging centers in the city of Ouagadougou. West Afr J Radiol [serial online] 2022 [cited 2022 Dec 5];29:15-21. Available from: https://www.wajradiology.org/text.asp?2022/29/1/15/361188




  Introduction Top


Congenital anomalies (CAs) are related to a disturbance in embryonic or fetal development.[1]

The delivery of a malformed child is experienced in African societies as a real tragedy, given the religious considerations surrounding it on the one hand[1] and the real moral weight that it constitutes for the families on the other hand.[2]

CAs are the leading causes of neonatal and infant mortality and disability; it is a real public health issue globally. According to the World Health Organization (2016),[3] each year 303,000 newborns die before the age of 28 days due to birth defects. The most common severe congenital disorders are CAs of the heart, neural tube, and trisomy 21.[3]

In Burkina Faso, a study done in Bobo-Dioulasso found a postnatal prevalence of 2.9%.[4]

Although CAs can be of genetic, infectious, or environmental in origin, it is most often difficult to determine the exact cause.[3]

Prenatal diagnosis allows for better management of the new-born and his or her family.[5] Medical imaging, particularly obstetrical ultrasound, is one of the means of making an antenatal diagnosis of congenital malformation.

However, the genetic component remains the most important way to better understand the causes of these malformations and to prevent the appearance of anomalies in other generations.[3]

The aim of our study was to make an epidemiological and sonographic approach to CAs in antenatal care.

This work could also serve as an advocacy for the establishment of a national registry of CAs.


  Materials and Methods Top


It was a multicenter retrospective and prospective cross-sectional study in 3 imaging departments. The study was conducted from January 1, 2016, to October 31, 2019. Included in the study were pregnant women who presented for at least one obstetric ultrasound scan whose results detected an embryo or fetus with a congenital anomaly at all three facilities during the study period.

Using a collection sheet, we collected data from obstetric ultrasound reports. The variables studied were mother's age, ultrasound precriptors, ultrasound indications, and ultrasound data (number of fetuses, biometric study, age of pregnancy, morphological examination, presensation, amniotic fluid, and placenta). The data were entered and analyzed using Epi Info software version 7.1.3.3 (Division of Health Informatics & Surveillance (DHIS), Center for Surveillance, Epidemiology & Laboratory Services (CSELS)).

The malformations in fetuses with multiple anomalies were classified based on the severity of the anomaly. The most lethal malformation was classified as the main one, while the associated anomalies were classified from first to third in descending order of the severity.


  Results Top


A total of 21090 obstetric ultrasound records were analyzed. CAs were detected in 231 fetuses with a prevalence of 1.10%.

Requests for obstetric ultrasound were made by gynecologists in 80.9% of cases, in 13.42% of cases by general practitioners, and in 6.49% by nurses and midwives.

Maternal age was recorded for 195 (84.4%) of the pregnant women, and ages were between 14 and 45 years with an average age of 28.52 ± 7.05 years. The 26–30 age group was the most represented among pregnant women with CAs [Figure 1].
Figure 1: Distribution of pregnant women according to age groups

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Ultrasound was requested in 61.48% of cases for prenatal assessment and in 36.36% of cases for confirmation of malformations.

Sex was determined in one hundred fetuses, 53% of which were male and 47% female. The average gestational age (GA) of embryos/fetus at presentation was 27 weeks 2 days ± 7 weeks 6 days with GA ranging between 10 and 39 weeks 5 days.

CAs were discovered in 121 (52.38%) cases in the third trimester, 79 (34.20%) in the second trimester, and 32 (13.42%) were detected in the first trimester. Two hundred and twenty-one (95.67%) CAs were detected in singleton pregnancies compared to 10 (4.33%) from twin pregnancies. These malformations involved only one twin in 9 cases and both twins in 1 case.

The most common malformations were detected in fetuses in the following descending order: the central nervous system (CNS) (155, 67.10%) [Figure 2], urogenital system (43, 18.62%), abdomen wall (34, 14.72%), digestive system (31, 13.85%), skeletal system (31, 13.42%), skin tissue (22, 9.52%), the cardiovascular system (19, 8.23%), and the respiratory system (12, 5.19%).
Figure 2: Fetal ultrasound of a 23 WA fetus in sagittal (a) and coronal (b) sections. They show sonographic signs of anencephaly, objectifying an absence of the cranial vault (') and bilateral hypertrophy of the eyeballs giving the appearance of a frog (a)

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We found 155 (66.6%) brain abnormalities [Figure 2]. Encephalic dysraphies were diagnosed in 28 (12.12%) cases, ventriculomegaly in 61 (26.41%) cases, holoprosencephaly in 14 (9.03%) cases, and cerebellar hypoplasia in 10 (4.33%) cases [Table 1].
Table 1: Frequency of brain anomalies (n=119)

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Ventriculomegaly was bilateral in 41 (17.75%) cases, unilateral in 9 (3.90%) cases, tetraventricular in 6 (2.60%) cases, and triventricular in 5 (2.16%) cases [Figure 3].
Figure 3: Site of ventriculomegaly

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Cranial biometric anomalies were found in 35 (15.15%) of fetuses. Macrocephaly was most common in 29 (12.55%) of fetuses, followed by microcephaly in 4 (1.73%) fetuses and cranial dysmorphia in 2 (0.87%) fetuses.

Facial anomalies frequency was 11(4.76%)[Table 2].
Table 2: Frequency of facial anomalies (n=11)

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Spinal dysraphism accounted for 25 (10.82%) CAs. We found 14 (6.06%) myelomeningoceles, and 11 (4.76%) meningoceles.  Chiari malformation More Details was found in 8 (3.46%) fetuses. It was a Type 2 of Chiari in 5 (2.16%) of fetuses and a Type 3 in 3 (1.30%) fetuses. CAs of skin coating were found in 22 (9.52%) fetuses. There were 4 (1.73%) cases of skin thickening, 17 (7.31%) cases of enlarged nuchal translucency, and 1 (0.43%) case of cystic hygroma [Figure 4].
Figure 4: (a) Meningeal hernia filled with CSF, (b) protruding behind the spine, anechoic

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The mean nuchal translucency was 9.46 ± 3.16 mm with extremes between 3.3 and 15.

The cardiovascular system was affected in 19 (8.23%) fetuses. There were 13 (5.63%) cases of cardiomegaly, 4 (1.73%) cases of pericardial effusion, and 2 (0.87%) cases of ventricular septal defect.

We found 11 (4.76%) cases of bilateral pleurisy and 1 (0.43%) case of thoracic hypoplasia.

CAs of the genitourinary system were present in 61 fetuses. Nephromegaly was present in 33 (14.29%) cases, pyelectasis in 11 (4.76%) cases, multicstic kidneys in 9 (3.90%) cases, and hydrocele in 4 (1.73%) [Table 3].
Table 3: Distribution of anomalies of the genito urinary system (n=61)

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We identified 53 (22.94%) fetuses with CA from the abdominal wall [Figure 5] and digestive system. Ascites were associated with CAs of CNS in 6.06%, abdominal wall defect in 4.32%, and thoracic anomalies in 2.16% of cases.
Figure 5: (a)Abdominal wall defect materialized by a (b) hepatic hernia in this gastroschisis

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Limb deformities affected lower limb in 28 cases with club foot in 15 (6.49%) cases. Upper limb was affected in 17 (37.77%) cases with limping hand in 5 (1.73%) cases [Table 4].
Table 4: Distribution of limb anomalies (n=45)

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The monomalformations in our study were 76.62% versus 23.38% of polymalformations [Table 5].
Table 5: Distribution of polymalformations according to the affected organs (n=54)

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The presentation of the fetus was cephalic in 137 (64.93%), variable in 44 (20.5%), and transverse in 3 (1.42%) cases.

Placenta was well inserted in 206 (93.64%) cases and low inserted in 14 (6.36%) cases.

The amniotic fluid was normal in 149 (64.50%) and abnormal in 82 (35.50%) cases.

CNS anomalies were associated with polyhydramnios in 39 (16.88%) cases, with oligohydramnios in 11 (4.76%) cases, and with anhydramnios in 2 (0.87%) cases.

Abdominal wall and digestive system anomalies were associated with polyhydramnios in 14 (6.06%) cases, with oligohydramnios in 4 (1.73%) cases, and with anhydramnios in 6 (2.6%) cases.

Urinary tract anomalies were associated with hydramnios in 10 (4.36%) cases and in 3 (1.30%) cases with oligohydramnios [Figure 6].
Figure 6: Frequency of malformation according to amniotic fluid quantity anomalies

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  Discussion Top


The prevalence of CAs in our series was 1.10%, a result similar to that of N'Timon et al.,[6] which reported a prevalence of 0.8%. It is however lower than those of Welffens et al.[7] and Myriam,[8] which reported a prevalence of 2.9% and 2% respectively. This difference could be explained by the large variability in the size of the samples studied, the duration, and the inclusion criteria of the different studies. The prevalence and type of malformations are different from country to another.[6] This may suggest the role of environmental, genetic, and ethnic variations as risk factors.

The most represented professioners who requested for obstetric ultrasound were gynaecologists followed by general practitioners and then nurses/midwives. The high proportion of requesting doctors in our study could be explained by the fact that our study was conducted in urban areas where a nurse is less empowered to consult.

The average age of the mothers in our study was 28-year-old. This result is consistent with those of Myriam[8] and Néossi Guena et al.,[9] which found an average age of 30 and 26 years, respectively. The young age of the population in general could explain this predilection of anomalies in this age group.

We found a predilection for congenital malformations in women in the age group range of 26–30 years (27.18%). This was similar to the result of Néossi Guena et al.,[9] which found a predilection for the age group of 25–29 years.

Prenatal assessment was the most frequent indication for obstetric ultrasound scan in our study. This could be explained by the increasing number of prenatal monitoring in this urban context.

In our study, CAs were mostly diagnosed in the third trimester Our results are similar to those of Welffens et al.[7] who found 60% of fetal anomalies in the third trimester. However, they are different to those of Néossi Guena et al.[9] in which fetal anomalies were detected mainly in the second trimester in 71% of cases, against 14% in the third trimester, and 5% in the first trimester. This difference could be explained by the fact that in our context, ultrasounds are mostly requested in the third trimester, as many women start their prenatal visits late.

Fetal anomalies were found mostly in monofetal/embryonic pregnancies in this study. Our results are similar to those of Myriam,[8] which found 88% of fetal anomalies in monofetal/embryonic pregnancies. Singleton pregnancies are most common. In effect for Gilles Pison, one pregnancy out of 40 is twin.[10]

We found male predominancein the fetuses with CAs in our study with a sex ratio of 1.13. This result is similar to that of Mouafo et al.[11] in Abidjan, which also found a male predominance with a sex ratio of 1.75. On the other hand, Youl,[4] Myriam,[8] and Néossi Guena et al.[9] noted in their studies a predominance of the female sex estimated, respectively, at 0.68, 0.25, and 0.64. This difference could be explained by the large variability in the size of the samples studied, the duration, and the inclusion criteria of the different studies.

The CAs encountered in our study were dominated by CNS malformations followed by renal anomalies and abdominal wall anomalies.

This finding is similar to those of Néossi Guena et al.,[9] which found a predominance of CNS malformations (46.34%), which was followed by renal (19.51%) and abdominal wall (12.19%) anomalies. Our results also corroborate those of N'Timon et al. in Togo[6] with a predominance of CNS anomalies (39.74%), followed by urogenital system anomalies (30.77%).

The easier detection of cranioencephalic anomalies could explain these rates. These congenital malformations, known to be of multifactorial origin, can in some cases be prevented by simple measures accessible even to countries with limited resources such as Burkina Faso. These measures include awareness-raising against alcohol consumption during pregnancy and periconceptional folic acid supplementation.[12],[13]

In our series, the prevalence of neural tube closure defects was 22.94%. This was mainly (23, 9.96%) cases of anencephaly. Néossi Guena et al.[9] found in their study 9.80% of anencephaly. This could be due to the presence of external environmental factors (such as Vitamin B9 deficiency) and genomic factors or hyperthermia during maternal infections.[4]

The average nuchal translucency was 9.46 ± 3.16 mm with extremes between 3.3 and 15. Our results are lower than those of Le Lous,[14] which reported an average nuchal translucency of 4.8 mm. The importance of measuring the thickness of nuchal translucency lies in the fact that this measurement makes it possible to predict the birth of a newborn with Down syndrome when it is correlated with age and the dosage of serum markers. The normal is 3 mm.[15] The older the age, the greater the positive predictive value of this noninvasive marker.

Fetal cardiovascular anomalies were demonstrated in 19 (8.23%) fetuses. Our results are lower than those of EL Guindi et al.,[16] which found 34 cardiac anomalies in their study. This difference could be explained by the large variability in sample size, duration, and inclusion criteria in our study or could this be due to expertise.

Pulmonary CAs were marked by bilateral pleurisy in 11 fetuses (4.76%) and one case (0.43%) of thoracic hypoplasia. Nephromegaly (14.29%) was followed by pyelectasis (4.76%) and multicystic kidneys (3.90%) for renal CAs. Néossi Guena et al.[9] in their study found a bronchogenic cyst and a predilection for multicystic kidneys (12.20%). This difference could be explained by the large variability in sample size, duration, and inclusion criteria in our study.

Monomalformations were more in our study (76.62%). These results are consistent with those of Youl[4] and those of Konaté,[17] which found to be 80.3% and 71.4%, respectively. Could this be due to underdetection of other associated malformations?

As for polymalformations, the most frequent were those with associating anomalies of the face and limbs. The muscles of the limbs have growth markers common to those of the face.[18] This result is almost identical to that of Youl,[4] which found a more frequent association of musculoskeletal anomalies with those of the face or the digestive tract or the nervous system. The rate of polymalformations (23.38%) in our study is similar to that of Konaté,[17] which found to be 28.6%.

The absence of additional genetic information (familial or fetal) did not allow us to link the different polymalformations to syndromic entities.

Cephalic presentation is the most common of the presentations as found by Lansac et al.[19] with a frequency of 90%, which explains why the majority of fetuses with anomalies have this presentation.

The amniotic fluid was abnormal in 82 (35.50%) cases with association of CNS abnormality and polyhydramnios in 39 (16.88%); CNS abnormality and oligohydramnios in 11(4.61%) and association CNS abnormality anhydramnios in 2(0.87%).

Amniotic fluid anomalies associated with malformations results are different from those of Néossi Guena et al.,[9] which found that 52.60% of malformations were associated with oligohydramnios and 42.10% with hydramnios. Polyhydramnios is a sign of tenderness and high specificity for prenatal diagnosis of fetal malformations; its presence must require a meticulous search for fetal anomalies.[20]


  Conclusion Top


Congenital malformations have been found in mothers in their twenties. Ultrasound was performed to confirm a malformation in more than half of the cases. The predominant malformations were in male children and discovered in the 3rd trimester in the majority of cases. CNS malformations were the most numerous followed by those of the urogenital system. The monomalformations translated the characteristic of this study to three quarters. A good characterization of these malformations and the different malformative associations would be an asset to establish a register of congenital malformations in our context by developing a multidisciplinary center for prenatal.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
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Youl H. Recognizable Birth Defects In Newborns in the Department of Pediatrics From the Souro Sanou University Hospital Center thesis Med. Ouagadougou: Ouaga I Joseph Ki-Zerbo University; 2011. p. 98.  Back to cited text no. 4
    
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Myriam R. The Antenatal Diagnosis of Fetal Malformations About 92 Cases. Thesis: Specialty in Gyneco-obstetrics. Fes: Sidi Mohammed Ben Abdellah University of Morocco; 2012. p. 153.  Back to cited text no. 8
    
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11.
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De Wals P, Tairou F, Van Allen MI, Uh SH, Lowry RB, Sibbald B, et al. Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med 2007;357:135-42.  Back to cited text no. 12
    
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O'Leary CM, Nassar N, Kurinczuk JJ, De Klerk N, Geelhoed E, Elliott EJ et al. Prenatal alcohol exposure and risk of birth defects. Pediatrics 2010;126:e843-50.  Back to cited text no. 13
    
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Le Lous M. Performance of Early Morphological Ultrasound At 16 weeks of amenorrhea in the follow-up of hyperclarities Nucales, These Méd N 140. Paris: University Paris Descartes Faculty of Medicine; 2015. p. 52.  Back to cited text no. 14
    
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Seror V, Ville Y. Prenatal screening for Down syndrome: Women's involvement in decision-making and their attitudes to screening. Prenat Diagn 2009;29:120-8.  Back to cited text no. 15
    
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El Guindi W, Dreyfus M, Carles G, Lambert V, Herlicoviez M, Benoist G. Contribution of volume ultrasound in the evaluation and prenatal care of cardiovascular anomalies fetal. J Gynecol Obst Biol Reprod 2014;43:56-65.  Back to cited text no. 16
    
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Konate LC. External Congenital Malformations Of Newborns In the Gynecology and Obstetrics Departments of the CHU-YO and From CHU-CDG Surgery: Apropos of 49 Cases. Thesis of Med. Ouagadougou: University of Ouagadougou; 2008. p. 99.  Back to cited text no. 17
    
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Vasquez MP, Soupre V, Picard A. malformations of the face, those you need to know. Francophone Society of Pediatric and Prenatal Imaging. XXX Pediatric Radiology Days -Trousseau 16,17,18. 2008.p. 15.  Back to cited text no. 18
    
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Kouamé NN'goan‐Domoua AM, Nikiéma Z, Konan AN, N'guessan KE, Sétchéou A, Tra‑Bi ZO et al. Polyhydramnios: Warning sign during antenatal ultrasound diagnosis of fetal morphological abnormality? J Radiol Diagn Interv 2013;94:449-53.  Back to cited text no. 20
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
 
 
    Tables

  [Table 1], [Table 2], [Table 3], [Table 4], [Table 5]



 

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