**6. Anti-epileptics**

Drugs such as Phenytoin and sodium valproate are known to cause birth defects. **Phenytoin**: This is known to cause fetal hydantoin syndrome; IUGR, Microcephaly, Limb defects, Hypoplastic nails and distal phalanges, Heart defects and cleft lip [18]. Up to 1 in 10 of babies whose mothers take sodium valproate are at risk of having a birth defect and up to 1 in 40 have developmental problems as they grow. Sodium valproate use in pregnancy can cause; Spina bifida or a cleft palate, Atrial septal defect, Hypospadias, polydactyl and craniosynostosis [19].

**Metabolic disease:** Metabolic diseases such as diabetes have for been known to be associated poor pregnancy outcomes. Diabetic women are at risk of recurrent miscarriages, unexplained intrauterine fetal death, intrauterine growth restriction, fetal macrosomia and congenital birth defects. IDDM affects 0.5% of pregnancies in industrialized countries [25], and is becoming more prevalent in Africa especially among the elites and opulent segment of the population who are increasingly adopting western life styles. Infants born of mothers with insulin-dependent diabetes [IDDM] have up to threefold risk of having a serious birth defect [4]. Birth defect prevalence in infants of diabetic mothers is related to the level of control of the disease and in middle and low income countries diabetic control is sub-optimal because of low quality health infrastructure. Common birth defects seen infants whose mothers were diabetics include; Heart defects, Spinal and brain defects,

*Fetal Congenital Anomalies in Africa: Diagnostic and Management Challenges*

*DOI: http://dx.doi.org/10.5772/intechopen.91994*

**How culture, beliefs and other factors influence prevalence of birth defects:** Low-income countries particularly those in Africa are in special a position regarding the prevalence of certain diseases and conditions. In Africa women get pregnant at the extremes of age. Pregnancy at the age of 35 years and above is associated with an increased birth prevalence of chromosomal trisomies, particularly Down syndrome [4]. In middle and low-income countries, a high percentage of women give birth over the age of 35 years without the availability of community education and universally available and accessible family planning services, medical genetic screening, prenatal diagnosis, or associated services [4]. The birth prevalence of chromosomal aneuploidies is therefore high in these countries [26]. The percentage of births in women over 35 years ranges from 11 to 15% in developing regions of the world, compared to 5–9% in industrialized countries [27]. Another important factor affecting birth defect prevalence in Africa is the practice of consanguineous marriage. Consanguineous marriage is accepted by 20% of world's population [4]. This culture increases the birth prevalence of autosomal recessive birth defects, almost doubling the risk of neonatal and childhood death from birth defects [26, 28, 29]. Poverty is an important element in disease causation. Poor people are exposed to various deprivations leading to poor nutrition and susceptibility to infections and their attendant impact on general wellbeing. Mothers in poverty are more likely to be malnourished before and during pregnancy, and are at greater risk of exposure to environmental teratogens such as alcohol and maternal infections [30]. This will lead to congenital anomalies in the fetuses carried by those affected. In Africa malaria is endemic. Healthy carriers of recessive hemoglobin disorders (Sickle cell anemia and Thalassemia) glucose-6-phosphate dehydrogenase (G6PD) deficiency have a well-documented survival advantage against lethal effects of malaria compared to non-carriers of these conditions. As a result of this, carriers are more likely to survive to reproductive age. Over the years this has led to an increase in the population prevalence of these in tropical Africa [4].

Consequently, the birth prevalence of thalassemia, sickle cell disease and G6PD deficiency is high in malaria endemic regions of the world such as Sub-Saharan Africa, Eastern Mediterranean and North Africa, South East Asia and Western

**Prenatal diagnosis its benefits and its challenges in Africa:** The benefits of

1. It provides an opportunity to classify the anomalies into lethal [e.g. Anencephaly, Bilateral renal agenesis] and non-lethal [e.g. Cleft lip,

prenatal diagnosis can be viewed from different angles.

2. Surgically correctable and non-surgically correctable

Pacific [31, 32].

Polydactyl]

**203**

Renal, Gastrointestinal tract defects and limb deficiencies.

**Hydroxyurea:** This drug is used in the management of Sickle cell disease and in acute myeloid leukemia. Sickle cell disease is common disease in Africa and has diverstating consequences and Hydroxyurea is used reduce crises and decrease anemia. This drug can cause fetal malformations including; Partial ossification of the cranial bones, absence of eye sockets, hydrocephalus, bipartite sternebrae and missing lumbar vertebrae.

**Warfarin:**Warfarin is used for anticoagulation and the fetuses of pregnant women on treatment with the drug may develop Fetal Warfarin syndrome, Hypoplasia of nasal bridge, Laryngomalacia, Pectus carinatus, Atrial septal defect, Patent Ductus arteriosus, Ventriculomegally, stippled epiphyses, telebrachydactyly and IUGR [20]**.**

**Alcohol:** Alcohol consumption is very common in African communities and both local and bottled brews are consumed. This considered as traditional. Alcohol consumption in pregnancy is associated Fetal alcohol syndrome [FAS] characterized by; intellectual disability, behavior problems, IUGR and congenital heart defect can occur in an individual whose mother drunk alcohol during pregnancy [21]. I western Cape province of South Africa, more than 4% of 6- to 7-year-old school children had FAS. Comparable studies in Johannesburg found **2.7%** of children with FAS [22]. This raises concern about prevalence of FAS in middle and low-income countries where alcohol is available and used by women of reproductive age [23].

**Traditional medicine consumption:** Consumption of traditional medicine is common in Africa. These medicines are prepared from different herbs and other substances whose chemical composition is unknown. These preparations may contain chemical agents with teratogenic effects and cause congenital birth defects. Some birth defect which may be considered idiopathic may perhaps be caused by these traditional medications. Research is needed to determine the chemical constituents of some traditional medications to determine their teratogenic potential.

#### **7. Deficiencies of essential elements and vitamins**

Malnutrition as stated earlier is an important problem in African communities. Most of the essential elements are needed for normal fetal development. Malnourished women of reproductive age may lack these essential substances and could be at risk having babies with various forms of birth defects. An important vitamin whose deficiency leads to birth defect is folic acid and has been implicated as a cause of neural tube defect. Its use as a supplement in the preconception period and early pregnancy has been shown protect development of neural tube defects. Iodine deficiency is also implicated as a cause of birth defects [Iodine Deficiency Disorder characterized by intellectual disability motor and auditory disabilities] The severity depends on the level of deficiency in the mother. In 1998, an estimated 60,000 babies were born worldwide with severe iodine deficiency disorder (Cretinism), and an estimated 28 million pregnancies were still at risk of less severe Iodinedeficiency disorder from maternal iodine deficiency [24].

**Exposure to pesticides/Herbicides:** In Africa subsistence farming is source of livelihood and many women of reproductive age are engaged in it. Today there is a plethora of chemical agents used as pesticides and herbicides on the farm without wearing protective gear. As women are of the farming populations they are exposed to these potentially teratogenic chemicals and may thus be at risk of having their fetuses affected resulting in birth defects. There is the need for authorities to look in to the importance and use of these agents by instituting strict controls and regulations to catastrophic effects on the population.

*Fetal Congenital Anomalies in Africa: Diagnostic and Management Challenges DOI: http://dx.doi.org/10.5772/intechopen.91994*

**Metabolic disease:** Metabolic diseases such as diabetes have for been known to be associated poor pregnancy outcomes. Diabetic women are at risk of recurrent miscarriages, unexplained intrauterine fetal death, intrauterine growth restriction, fetal macrosomia and congenital birth defects. IDDM affects 0.5% of pregnancies in industrialized countries [25], and is becoming more prevalent in Africa especially among the elites and opulent segment of the population who are increasingly adopting western life styles. Infants born of mothers with insulin-dependent diabetes [IDDM] have up to threefold risk of having a serious birth defect [4]. Birth defect prevalence in infants of diabetic mothers is related to the level of control of the disease and in middle and low income countries diabetic control is sub-optimal because of low quality health infrastructure. Common birth defects seen infants whose mothers were diabetics include; Heart defects, Spinal and brain defects, Renal, Gastrointestinal tract defects and limb deficiencies.

**How culture, beliefs and other factors influence prevalence of birth defects:** Low-income countries particularly those in Africa are in special a position regarding the prevalence of certain diseases and conditions. In Africa women get pregnant at the extremes of age. Pregnancy at the age of 35 years and above is associated with an increased birth prevalence of chromosomal trisomies, particularly Down syndrome [4]. In middle and low-income countries, a high percentage of women give birth over the age of 35 years without the availability of community education and universally available and accessible family planning services, medical genetic screening, prenatal diagnosis, or associated services [4]. The birth prevalence of chromosomal aneuploidies is therefore high in these countries [26]. The percentage of births in women over 35 years ranges from 11 to 15% in developing regions of the world, compared to 5–9% in industrialized countries [27]. Another important factor affecting birth defect prevalence in Africa is the practice of consanguineous marriage. Consanguineous marriage is accepted by 20% of world's population [4]. This culture increases the birth prevalence of autosomal recessive birth defects, almost doubling the risk of neonatal and childhood death from birth defects [26, 28, 29]. Poverty is an important element in disease causation. Poor people are exposed to various deprivations leading to poor nutrition and susceptibility to infections and their attendant impact on general wellbeing. Mothers in poverty are more likely to be malnourished before and during pregnancy, and are at greater risk of exposure to environmental teratogens such as alcohol and maternal infections [30]. This will lead to congenital anomalies in the fetuses carried by those affected. In Africa malaria is endemic. Healthy carriers of recessive hemoglobin disorders (Sickle cell anemia and Thalassemia) glucose-6-phosphate dehydrogenase (G6PD) deficiency have a well-documented survival advantage against lethal effects of malaria compared to non-carriers of these conditions. As a result of this, carriers are more likely to survive to reproductive age. Over the years this has led to an increase in the population prevalence of these in tropical Africa [4]. Consequently, the birth prevalence of thalassemia, sickle cell disease and G6PD deficiency is high in malaria endemic regions of the world such as Sub-Saharan Africa, Eastern Mediterranean and North Africa, South East Asia and Western Pacific [31, 32].

**Prenatal diagnosis its benefits and its challenges in Africa:** The benefits of prenatal diagnosis can be viewed from different angles.


grow. Sodium valproate use in pregnancy can cause; Spina bifida or a cleft palate,

**Hydroxyurea:** This drug is used in the management of Sickle cell disease and in acute myeloid leukemia. Sickle cell disease is common disease in Africa and has diverstating consequences and Hydroxyurea is used reduce crises and decrease anemia. This drug can cause fetal malformations including; Partial ossification of the cranial bones, absence of eye sockets, hydrocephalus, bipartite sternebrae and

**Warfarin:**Warfarin is used for anticoagulation and the fetuses of pregnant women on treatment with the drug may develop Fetal Warfarin syndrome, Hypoplasia of nasal bridge, Laryngomalacia, Pectus carinatus, Atrial septal defect, Patent Ductus arteriosus, Ventriculomegally, stippled epiphyses, telebrachydactyly and IUGR [20]**. Alcohol:** Alcohol consumption is very common in African communities and both local and bottled brews are consumed. This considered as traditional. Alcohol consumption in pregnancy is associated Fetal alcohol syndrome [FAS] characterized by; intellectual disability, behavior problems, IUGR and congenital heart defect can occur in an individual whose mother drunk alcohol during pregnancy [21]. I western Cape province of South Africa, more than 4% of 6- to 7-year-old school children had FAS. Comparable studies in Johannesburg found **2.7%** of children with FAS [22]. This raises concern about prevalence of FAS in middle and low-income countries where alcohol is available and used by women of reproductive age [23]. **Traditional medicine consumption:** Consumption of traditional medicine is common in Africa. These medicines are prepared from different herbs and other substances whose chemical composition is unknown. These preparations may contain chemical agents with teratogenic effects and cause congenital birth defects. Some birth defect which may be considered idiopathic may perhaps be caused by these traditional medications. Research is needed to determine the chemical constituents of

Atrial septal defect, Hypospadias, polydactyl and craniosynostosis [19].

*Congenital Anomalies in Newborn Infants - Clinical and Etiopathological Perspectives*

some traditional medications to determine their teratogenic potential.

Malnutrition as stated earlier is an important problem in African communities. Most of the essential elements are needed for normal fetal development. Malnourished women of reproductive age may lack these essential substances and could be at risk having babies with various forms of birth defects. An important vitamin whose deficiency leads to birth defect is folic acid and has been implicated as a cause of neural tube defect. Its use as a supplement in the preconception period and early pregnancy has been shown protect development of neural tube defects. Iodine deficiency is also implicated as a cause of birth defects [Iodine Deficiency Disorder characterized by intellectual disability motor and auditory disabilities] The severity depends on the level of deficiency in the mother. In 1998, an estimated 60,000 babies were born worldwide with severe iodine deficiency disorder (Cretinism), and an estimated 28 million pregnancies were still at risk of less severe Iodine-

**Exposure to pesticides/Herbicides:** In Africa subsistence farming is source of livelihood and many women of reproductive age are engaged in it. Today there is a plethora of chemical agents used as pesticides and herbicides on the farm without wearing protective gear. As women are of the farming populations they are exposed to these potentially teratogenic chemicals and may thus be at risk of having their fetuses affected resulting in birth defects. There is the need for authorities to look in

to the importance and use of these agents by instituting strict controls and

**7. Deficiencies of essential elements and vitamins**

deficiency disorder from maternal iodine deficiency [24].

regulations to catastrophic effects on the population.

**202**

missing lumbar vertebrae.

3. It helps to identify those defects that are amenable to intra-uterine surgery and those that can be managed postnatally.

Prenatal diagnosis has positively impacted on our knowledge of congenital anomalies that is why it is essential even in low-income countries. Prenatal ultrasound diagnosis of congenital defects is one of the black points of African ultrasonography [33]. Ultrasound as an instrument for prenatal diagnosis is now available in many African countries but its application in prenatal diagnosis still faces a lot of challenges. The number of congenital defects diagnosed is very low and nearly always late in pregnancy [33]. This does not provide opportunity for meaningful and timely interventions. As there are no established screening programs in Africa, diagnosis of congenital defects is opportunistic and happens by chance. Malforma-

*Fetal Congenital Anomalies in Africa: Diagnostic and Management Challenges*

3.Lack of ultrasound facilities in rural Africa where the bulk of the population

6.Accessibility and affordability are important issues even where the services are

In general, prenatal diagnosis for congenital anomalies is opportunistic and most often it happens by chance. Because of wide spread poverty the largest proportion

**9. Management of prenatally diagnosed congenital anomalies in Africa**

Management/Treatment of any clinical condition including congenital anomalies is hinged on accurate and reliable diagnosis. Accurate diagnosis requires well trained personnel and appropriate equipment. A comprehensive management will also require the services of different specialists [Obstetricians, Neonatologists, Pediatric surgeons**,** special care nurses trained in care of infants with congenital anomalies]. These are all hard to come by in Africa. People generally recognize gross physical anomalies, hidden anomalies are not appreciated before birth [e.g. Cardiac anomalies]. It is only when the child is born and start manifesting with clinical symptoms that the parents will appreciate the problem. When a child is born with gross anomalies such anomalies may be associated with some syndrome. When the gross anomaly is corrected the genetic syndrome problem will remain and will manifest itself. Parents will attribute the manifestations of the genetic syndrome to metaphysical causes. It is thus difficult to make them understand the real cause and the possible remedy. As facilities for genetic/chromosomal analysis are few and in most cases non-existent it becomes difficult to make

4.Absence of dedicated screening programs for congenital anomalies

5.Absence of laboratories for genetic and chromosomal analysis

of pregnant women are excluded from the opportunity.

tion detection rates do not exceed 20% [34–36] (**Table 4**).

1.Poorly trained/untrained service providers

2. Inappropriate/obsolete equipment

*DOI: http://dx.doi.org/10.5772/intechopen.91994*

**8. Reasons for the challenges**

reside

available

**205**


Prenatal diagnosis is testing for disease or condition in a fetus before it is born [1]. The aim of prenatal diagnosis is to detect birth defects which can morphological, genetic or biochemical. It involves different processes and it can be broadly classified in two, invasive and noninvasive. The invasive test requires taking fetal tissue which could be blood [Cordocentesis], placental tissue [Chorionic villus sampling] and amniotic fluid [Amniocentesis]. The non-invasive tests involve the use of ultrasound to image the various structures of the fetus to identify the normal or the abnormal. Ultrasound thus detects morphological aberrations [e.g. gastroschisis, omphalocele, anencephaly], or serve as a means of getting access to fetal tissues for further testing [CVS, Fetal amnio and Cordocentesis]. With further advancement in scientific techniques non-invasive test can now be done on maternal blood [Harvesting fetal cells in maternal blood and subjecting them to genetic testing]. In Africa prenatal diagnosis and screening for congenital defects is at the stage of infancy as the personnel and facilities are few and in most places nonexistent, where available accessibility and affordability becomes an issue (**Table 3**).


#### **Table 3.**

*Prenatal ultrasonography in Africa.*


#### **Table 4.**

*Percentage of prenatal diagnostic techniques.*

*Fetal Congenital Anomalies in Africa: Diagnostic and Management Challenges DOI: http://dx.doi.org/10.5772/intechopen.91994*

Prenatal diagnosis has positively impacted on our knowledge of congenital anomalies that is why it is essential even in low-income countries. Prenatal ultrasound diagnosis of congenital defects is one of the black points of African ultrasonography [33]. Ultrasound as an instrument for prenatal diagnosis is now available in many African countries but its application in prenatal diagnosis still faces a lot of challenges. The number of congenital defects diagnosed is very low and nearly always late in pregnancy [33]. This does not provide opportunity for meaningful and timely interventions. As there are no established screening programs in Africa, diagnosis of congenital defects is opportunistic and happens by chance. Malformation detection rates do not exceed 20% [34–36] (**Table 4**).

## **8. Reasons for the challenges**

3. It helps to identify those defects that are amenable to intra-uterine surgery and

4. It helps decide when best to deliver, how to deliver and where to deliver

*Congenital Anomalies in Newborn Infants - Clinical and Etiopathological Perspectives*

5. It provides us with a window to counsel the parents on the nature of the defect, treatment options and prognosis and thus assist them make an

6.Where management is not available at the facility where diagnosis made,

or the abnormal. Ultrasound thus detects morphological aberrations [e.g.

gastroschisis, omphalocele, anencephaly], or serve as a means of getting access to fetal tissues for further testing [CVS, Fetal amnio and Cordocentesis]. With further advancement in scientific techniques non-invasive test can now be done on maternal blood [Harvesting fetal cells in maternal blood and subjecting them to genetic testing]. In Africa prenatal diagnosis and screening for congenital defects is at the stage of infancy as the personnel and facilities are few and in most places nonexistent, where available accessibility and affordability becomes an issue (**Table 3**).

**Urban Area Rural Area Geographical area One examination** ≥ **3 examinations One examination** ≥ **3 examinations** North Africa 88% 53% 20% 5% Sub-Saharan Africa 32% 14% 6% 1% Southern Africa 68% 38% 18% 6%

**Geographical area North Africa Sub-Saharan Africa Southern Africa** Ultrasonographic PD <50% <10% <25% Biochemical PD <5% — <5% Invasive PD <2% — <2% Financial arrangement Private — Private

Prenatal diagnosis is testing for disease or condition in a fetus before it is born [1]. The aim of prenatal diagnosis is to detect birth defects which can morphological, genetic or biochemical. It involves different processes and it can be broadly classified in two, invasive and noninvasive. The invasive test requires taking fetal tissue which could be blood [Cordocentesis], placental tissue [Chorionic villus sampling] and amniotic fluid [Amniocentesis]. The non-invasive tests involve the use of ultrasound to image the various structures of the fetus to identify the normal

those that can be managed postnatally.

appropriate and timely referral can be made.

informed choice.

*Source: Matres Mundi International Africa.*

*Prenatal ultrasonography in Africa.*

*Source: Foulkese Set al. [10].*

*Percentage of prenatal diagnostic techniques.*

**Table 3.**

**Table 4.**

**204**


In general, prenatal diagnosis for congenital anomalies is opportunistic and most often it happens by chance. Because of wide spread poverty the largest proportion of pregnant women are excluded from the opportunity.
