The Making of Defects less Babies.

A lot of things happen in the making of a baby. There must be fertilization of the egg(s) by the sperm before conceptions take place. The product of conception, the embryo continues to develop to the fetal stage after about nine weeks. While in the womb, the fetus expectedly continues normal development through the first, second and third trimesters for the mother to usher to life, all things being equal at the point of delivery, a normal ‘bouncing’ baby after about nine months gestation.

But it is not all pregnancy that goes through a seamless developmental experience. While still in the womb, some fetus can suffer affliction. They can become abnormal visibly, abnormal internally, or abnormal chemically. When any of these happens, a baby with birth defects, medically known as congenital deformation, with health challenges, is ushered into life.

Medical experts define congenital anomalies as structural or functional anomalies that occur during baby’s life in the womb. According to experts, congenital malformations develop prenatally, they are medical conditions acquired from the womb. These conditions may be identified before or at birth, or later in life. These medical conditions, experts say, range from mild to more severe. Some affect the organs or a single body part, while others can affect development, how the body works, or the senses.

Foot with congenital anomalies. Credit Dynamiks Home Care Inc.

Many congenital anomalies result in social stigma and discrimination, which can lead to embarrassment, isolation and other reductions in community interaction. Birth Defects also have a high economic cost; long-term disability creates significant impact on individuals, families, health care systems and societies. These effects are amplified in low- and middle-income countries where lack of accessibility and availability of support services may make living with an impairment more difficult.

In a study in African Journal of Pediatric Surgery “Prevalence and pattern of birth defects in the two tertiary hospitals in Enugu, South East Nigeria” Chukwubuike KE, et al affirm that congenital anomalies have medical, surgical and aesthetic consequences. Major birth defects, according to the study report, include severe anatomical anomalies that compromise life, while minor birth defects are structural anomalies that have no serious consequences and are corrected by simple surgical techniques.

Prevalence

World Health Organization (WHO) 2015 report identifies congenital anomalies to be the causes of death in about 276,000 newborns under one month of age every year. By 2016, the figure increased to 303,000 neonates. Causes of congenital anomalies, according to the report include environmental teratogens, genetic factors and multifactorial inheritance.

Adverse effects of birth defects include worldwide, lifelong disability and mortality of children.  Medical reports say about 3.6 million children under the age of five die per year because of birth defects. Medical reports also claimed 3.2 million live-born children are disabled for life, with direct effect on children, family, health care systems and communities

Globally, the prevalence of birth defect varies from region to region. In the United States, approximately one in every 30 birth is born with a birth defect, causing about 20% of infant death. According to the European observation of Congenital Anomalies (EUROCAT), the general rate of birth defects in Europe was estimated to be 24.86 per 1,000 births during 2010-2014. In addition, according to the WHO report on population-based registry in Europe, the rate of multiple congenital anomalies was 51 per 1,000 live births every year.

Based on the WHO report in 2013, the rates of entire structural and functional birth defects in the regions of Eastern Mediterranean and South-East Asia were 69 per 1,000 live births and 51 per 1,000 live births every year, respectively.

The prevalence of birth defects among newborn infants were also varied widely in sub-Saharan African countries. It was found to be 1.43 per 1000 in Gabon and 68.4 per 1000 in South Africa. However, there are insufficient reports on the prevalence and associated risk factors of congenital anomalies in sub-Saharan African countries, mainly due to paucity of data. However, the available data show a relatively high prevalence of birth defects in Nigeria and other developing countries compared to the developed countries. 94% of congenital anomalies reports say occur in low- and middle-income countries. Possible causes include lack of screening and prenatal care, insufficient access to nutritious foods for pregnant women, use or contact with alcohol or tobacco, and increased exposure to infection or environmental contaminants.

Medical reports say Congenital anomalies are one of the main causes of the global burden of disease, and low- and middle-income countries are disproportionately affected because of lack of facilities to treat reversible conditions.

Causes

Recall our episode on “whence cometh miscarriage”, we noted that one of the major causes of miscarriage is genetic/chromosomal abnormality. According to our report, nature expels fetus with genetic issues from further development thus resulting in miscarriage. Unfortunately, some fetus with genetic issue escapes natural expulsion, thus causing various deformation of the baby in the womb.

Medical experts and journals say 50% of congenital anomalies cannot be linked to a specific cause.

Most birth defects are caused by genetic or environmental factors or a combination of the two.

Genetic or inherited causes include:

• chromosomal defects – caused by too few or too many chromosomes, or problems in the structure of the chromosomes, such as Down syndrome and extra copy of chromosome 21 and sex chromosome abnormalities
• single gene defects – a mutation in one gene causes the defect
• dominant inheritance – when one parent (who may or may not have the disease) passes along a single faulty gene, such as achondroplasia and Marfan syndrome
• recessive inheritance – when both parents, who do not have the disease, pass along the gene for the disease to the child, such as cystic fibrosis and Tay Sachs

Environmental factors include:

• drug & alcohol
• disease the mother has that can increase the chance for the baby to be born with a birth defect.

Multifactorial birth defects are caused by a combination of genes and environmental exposures. A baby can inherit a gene that increases sensitivity to an environmental trigger. Such as in the birth defects of cleft lip or palate, certain heart defects, and neural tube defects.

Common Birth Defects

Birth defects are categorized as structural or functional and developmental.

Structural defects are when a specific body part is missing or malformed. The most common structural defects are:

• heart defects
• cleft lip or palate, when there’s an opening or split in the lip or roof of the mouth
• spina bifida, when the spinal cord doesn’t develop properly
• clubfoot, when the foot points inward instead of forward

Functional or developmental birth defects cause a body part or system not to work properly. These often cause disabilities of intelligence or development. Functional or developmental birth defects include metabolic defects, sensory problems, and nervous system problems. Metabolic defects cause problems with the baby’s body chemistry.

The most common types of functional or developmental birth defects include:

• Down syndrome, which causes delay in physical and mental development
• sickle cell disease, which occurs when the red blood cells become misshapen
• cystic fibrosis, which damages the lungs and digestive system 

Risk Factors & Prevention

Pregnant women sometimes inadvertently put the baby in the womb at the risk of defects by what they do or fail to do. Medical experts and journals say women must not compromise healthy living before and during pregnancy. Decision to become a mother must be preceded by staying healthy. That’s because the first few weeks of pregnancy is crucial for the health and development of the baby.

According to experts, all pregnant women have some risk of delivering a child with a birth defect. The risk however increases under certain conditions:

They identify the following as risk factors of congenital defects:

• Family history of birth defects or other genetic disorders
• Smoking – Babies born to mothers who smoke tend to be lower in birthweight; in addition exposure to second hand smoke can harm the fetus
• Unhealthy diet – Eating a balanced diet before and during pregnancy is not only good for the mother’s overall health, but essential for providing the developing fetus with essential nutrients for proper growth and development.
• Unhealthy weight– Women who are overweight may experience medical problems such as high     blood pressure and diabetes, and women who are underweight may have babies with low birthweight.
• Mother’s health condition-Medical management of pre-existing conditions – Take control of any current such as diabetes or high blood pressure.

• Folic acid – Taking 400 micrograms of folic acid each day can help lower the risk of neural tube defects, or birth defects of the brain and spinal cord. The vitamin is also found in some green leafy vegetables, nuts, beans, citrus fruits and fortified breakfast cereals.
• Avoid exposure to alcohol and drugs during pregnancy .  Inform your physician of any medications and herbal supplements you are taking, as they can all have adverse effects on the developing fetus.
• Avoid exposure to harmful substances – These include lead, pesticides and radiation (i.e., X-rays), which may harm the developing fetus.
• Lower your risk for infection. Pregnant women should avoid eating undercooked meat and raw eggs and avoid all contact and exposure to cat feces and cat litter, which may contain parasites. Other sources of infection include insects that have been in contact with cat feces.

• Untreated viral or bacterial infections, including sexually transmitted infections
• use of certain high-risk medications, such as isotretinoin and lithium

• Take a daily vitamin – Begin taking a prenatal vitamin daily, prescribed by your doctor, to make sure your body gets all the necessary nutrients and vitamins needed to nourish a healthy baby.

• Maternal age of 35 years or older
• Inadequate prenatal care
• Genetic Screening & Counselling: Before you say “I DO” go for screening and counselling.

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