You are pregnant…great news. Are you worried whether your baby will be born with birth defects. Worldwide, at least 7.9 million people are born each year with a birth defect. 85% of the world’s birth defects occur in developing countries. There are more than 7,000 kinds of birth defects that are known to occur. Study finds 400,000 children born with new mutations each year worldwide. Congenital anomalies are responsible for the death of more than 300,000 infants worldwide. These all news kind of scares an expectant mother. According to Parents Magazine, 78 percent of expectant mothers rated birth defects as their number one concern.
For many babies born with a birth defect, there is no family history of the condition. Some birth defects like cleft lip or spina bifida are easy to see. Others, like heart defects, are not. – National Birth Defects Prevention Network
Birth defects may affect appearance, organ function, or physical or mental development. They can be minor or severe. Most birth defects are present within the first three months of pregnancy, when the organs are still forming. Some birth defects are harmless, while others require long-term medical treatment. Birth defects have a serious physical and emotional impact, not only on those affected, but also on their families.
Birth defects: what causes it ?
Birth defects can be a result of genetics, lifestyle choices and behaviors, exposure to certain medicines and chemicals, infections during pregnancy, or a combination of these factors. For example spina bifida is a structural birth defect clinically obvious at birth and hemophilia is a functional birth defect that may present clinically only in infancy or childhood and some birth defects, like Fetal Alcohol Syndrome develop in babies because of alcohol consumption during pregnancy. Some birth defects can be corrected before or shortly after birth. Severe birth defects, such as cerebral palsy or spina bifida, can cause long-term disability or death.
In India birth defects prevalence varies from 61 to 69.9/1000 live births. Annual birth of Down syndrome babies is around 37,000 taking incidence of down syndrome as 1.4/1000 live birth. In India consanguineous (close relatives) marriages varies from as low as 1% to 4% in the northern region to as high as 40-50% in the southern region. Carrier frequencies for sickle cell hemoglobin ranges from 17% to 30% or more in Indian population.
Risks that increases having a baby with birth defect
- The parents have another child with a genetic disorder
- There is a family history of a genetic disorder
- One parent has a chromosomal abnormality
- Drug use, alcohol consumption, or smoking during pregnancy
- Advanced maternal age of 35 years or older
- Inadequate prenatal care
- Unplanned pregnancies
- Poor maternal nutritional status
- Consanguineous (close relatives) marriages
- Untreated viral or bacterial infections, including sexually transmitted infections
- Use of certain high-risk medications such as isotretinoin (acne/pimple treatment) and lithium
Preventing Birth defects: It’s possible to a great extent
Although some congenital defects cannot be prevented, improvements in health care, nutrition, and education can reduce their frequency and phenotypic severity. The increase use of prenatal genetic screens can also help in limiting the frequency and the severity of birth defects. It is estimated that 70% of birth defects are preventable.
- If a mother wishes to have a healthy baby, it is best to start preparing prior to conception. If you wait to start eating healthy until you are already pregnant, the fetus will fail to get important nutrients in the first weeks of development, a time when the foundations of your baby’s organs are forming.
- The majority of birth defects occur during the first 3 months of pregnancy, when the baby’s organs are forming. It’s very essential that mothers eat healthy, nutrient rich food. Many a times people miss out this first stage as they may not be aware that they are pregnant or they delay visits to hospitals thinking it’s not a crucial time.
- Folic acid reduces the risk of neural tube defects affecting the brains and spines of babies. If all pregnant women took 400 mcg of folic acid each day during the initial stages of pregnancy, up to 70% of neural tube defects could be prevented.
- Not only women, men should also ensure that they take in adequate levels of folate before planning for a baby.
- Recent study has found that women who ate a vegetable-rich diet during the year before pregnancy had a significantly lower risk of having a baby with certain birth defects as women who ate an unhealthy high-sugar diet
- If Diabetes is not managed properly, then it can affect the chances of a baby being born with a birth defect. Blood sugar needs to be kept at a healthy level.
- Smoking during pregnancy have been identified to cause 20% of oral clefts (lips and palates). A pregnant mother who does not smoke and breathes in secondhand smoke has a higher chance of delivering a stillborn baby or a baby with a defect. There is a 23% higher risk of delivering a stillborn baby and 13% higher chance of giving birth to a child with congenital birth defects.
- The babies of women who are overweight have an increased risk of birth defects. Overweight mothers also have an increased risk of miscarriage and complications related to delivery and labor.
- There are many infections a mother can catch that can increase the risk of birth defects.
- Getting enough iodine in the diet can help prevent some types of birth defects
- Prenatal exposure to bisphenol A (BPA), a chemical commonly used in plastics and food and beverage containers, may disrupt the actions of certain genes, possibly contributing to birth defects.
- Women who get rubella during the first three months of pregnancy have an increased risk of having a baby with a heart defect
- Use of opioid-based painkillers (codeine and hydrocodone) in early pregnancy could double the risk of babies being born with serious heart defects
- Working in beauty and nail salons, paint factories, metal cleaning operations, and in the agricultural industry can also increase the chance of having a child born with birth defects.
- Pain medication can lead to spina bifida or gastroschisis – a hole in the abdominal wall.
- Exposure to certain medications (such as chemotherapy drugs, thalidomide, and the antiseizure drug phenytoin) during the first trimester of pregnancy may play a role in causing heart defects.
- Some medications and vaccines that are normally safe can cause serious birth defects when taken by pregnant women.
- Men working in certain jobs – including computer scientists, landscapers and hairdressers – have been found to be associated with a higher risk of having children with birth defects.
- Avoid active Zika areas and protect yourself against mosquitoes, wash your hands frequently, don’t change dirty cat/dog litter, stay away from wild animals and their waste, get STD testing done, avoid unpasteurized milk, soft cheeses and certain types of meats
- Genetic counseling is also an important part of preparing for a healthy pregnancy
Environmental Agents Studied in Relation to Birth Defects
Healthy mom, Healthy baby
Adding to your diet healthy fresh foods, and avoiding junk food and fast foods, is truly one of the best gifts you can give to your child. The more high-quality foods you consume, the better health start your baby will receive. Stay healthy before and during the course of pregnancy.
Birth defects: in depth
Most birth defects originate before conception and are due to abnormalities of the genetic material— chromosomes and gene. Genetic abnormalities can be inherited, in which case they are found in families, or they can occur as an isolated event in a particular pregnancy. They include chromosomal abnormalities, single gene defects and conditions known as multifactorial disorders, which are caused by the interaction of genes and the environment.
Causes of birth defects originating after conception are primarily non-genetic. In these disorders, the genetic material inherited by the fetus is normal and the birth defect is caused by an intra-uterine environmental factor. These include teratogens that interfere with normal growth and development of the embryo or fetus, mechanical forces that deform the fetus, and vascular accidents that disrupt the normal growth of organs. This category accounts for an estimated 5-10 percent of all birth defects
The most common structural defects are:
- Heart defects – The heart develops during the first 8-9 weeks of fetal growth, so these problems usually develop early on.
- Cleft lip or palate – There’s an opening or split in the lip or roof of the mouth
- Spina bifida – The spinal cord doesn’t develop properly
- Clubfoot – The foot points inward instead of forward. Boys are affected almost twice as often as girls.
- Cerebral Palsy – Difficulty controlling the movements using muscles, loss or impairment of motor function
- Marfan syndrome – genetic disorder that affects the body’s connective tissue
- Developmental dysplasia of the hip – Round upper end of the thighbone doesn’t sit inside the socket of the pelvis
The most common functional or developmental birth defects are:
- Down syndrome – Causes delay in physical and mental development
- Autism – Scientists have found that 20 out of 23 chromosomes have regions that may be important for autism
- Sickle cell disease – Abnormal sickle-like shape of the red blood cells causes chronic anemia
- Cystic fibrosis – Damaged lungs and digestive system
- Anencephaly – Improper development of parts of the brain
- Fragile X syndrome – Causes mental impairment that ranges from learning disabilities to intellectual disabilities
- Fifth disease – Causes dangerous form of anemia, heart failure, and in some cases fetal death
Explore the complete birth defect list here:
Birth defect and Diagnosis:
Many birth defects can be diagnosed during pregnancy. Prenatal ultrasounds is mostly used to diagnose birth defects in utero. More in-depth screening options, such as blood tests and amniocentesis (taking a sample of the amniotic fluid), may also be done. The availability of chromosomal microarray analysis (CMA), and next-generation sequencing (NGS)-based methods, such as targeted gene-panel sequencing and, whole-exome sequencing (WES), has also resulted in the ability to diagnose more fetal genetic conditions from samples obtained through amniocentesis or chorionic villus sampling (CVS).