Every year, millions of babies across the world are born with birth defects that have severe consequences on their quality of life. These congenital diseases are one of the leading causes of death in babies and young children. However, some birth defects are minor and cause no problems. Let us learn about the types, symptoms and prevention of birth defects and congenital anomalies in babies.
Birth defects or congenital disease are development problems that happen when the baby is in the womb. These congenital anomalies affect how the organs and body parts form, how they function, how their bodies turn food into energy and in some cases the mental development of the baby.
They may be minor that do not cause much harm to the child or severe that may need long-term medical treatment. In rare cases, some congenital diseases can be fatal.
Are Birth Defects Detected During Pregnancy?
Most birth defects are present in the first three months of pregnancy. During pregnancy, prenatal tests are vital to detect abnormalities in the mother’s or baby’s health. These may be possible indications of congenital diseases in the baby.
First Trimester Abnormal Maternal Blood Test Results
During pregnancy, doctors recommend blood tests to check for underlying health conditions in mother and baby. These blood tests measure the amounts beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A).
Second Trimester Quad Screening
Between weeks 15 and 20 of pregnancy, your doctor may request for a maternal serum alpha-fetoprotein (MSAFP) or a quad screen. The AFP blood test determines how much AFP is in the mother’s blood. High or low levels of AFP show the possibility of a baby with a birth defect.
Anomalies in the Ultrasound
An ultrasound can also point at birth defects in the baby.
Abnormal Amniocentesis Test Results
In an amniocentesis test, the doctor collects a small amount of amniotic fluid to measure the baby’s protein levels. These test results might indicate certain birth defects.
Percutaneous Results
In this test, the doctor inserts a needle through the mother’s abdominal wall into the umbilical cord for a blood sample.
Chorionic Villus Sampling (CVS) Results
This test for congenital disease uses a small sample of cells taken from the placenta.
Fetal MRI results
A fetal MRI helps detect abnormalities in the fetal spine and brain that are not visible in an ultrasound.
Symptoms of congenital disease depend on the specific body parts, or body functions affected.
Some birth defect symptoms after baby birth include:
There are two main types of birth defects.
Structural birth defects are physical abnormalities in the baby’s body. These can include:
Cleft Lip Or Cleft Palate
A cleft lip or a cleft palate is an opening or split in the upper lip or the roof of the mouth. It occurs when the developing facial structures in an unborn baby don’t close completely.
Congenital Heart Defects
Sometimes, during fetal development, the heart and blood vessels do not grow properly. Congenital heart defects are structural problems caused because of abnormal formation of the heart such as missing or misshaped valves.
Congenital Limb Defect
A congenital limb defect is when an arm or leg doesn’t form normally as a baby grows in the uterus causing missing or abnormal limbs.
Clubfoot is a common congenital abnormality where the tissues connecting the muscles to the bone (tendons) are shorter than usual. This causes the baby’s foot to be twisted out of shape or position.
To know more, click here – Club Foot causes and treatments
Abdominal Wall Defects
Abdominal wall defects are birth defects that affect the baby’s abdominal wall. It allows the digestive organs of the baby to protrude through an abnormal hole in the abdomen. Omphalocele and gastroschisis are two types of abdominal wall defects.
Neural Tube Defects
NTDs are birth defects because of the neural tube not closing completely in early fetal development, causing improper development of the skull or spine.
The common NTDs are
Spina Bifida –
This involves the incomplete development of the spinal cord or its coverings.
Anencephaly –
This occurs when the neural tube fails to close at the top. Infants born with this condition either stillborn or die soon after baby birth.
Encephalocele –
This occurs when the tube does not close near the brain, causing the brain and membranes to protrude through the skull.
Iniencephaly –
Where the infant’s head is bent severely backwards. Babies born with this condition rarely live more than a few hours.
Lower Urinary Tract Obstructions
A lower urinary tract obstruction (LUTO) is a rare congenital disease in the fetus that can result in an enlarged bladder caused by a blockage in the urethra.
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) is a genetic disease characterized by a hole in the diaphragm. This allows contents of the abdomen (stomach, intestines and liver) to migrate into the chest, impacting the growth and development of the lungs.
Functional birth defects are related to how a body part or body system functions. These problems can include:
Brain Abnormalities
These include intellectual and developmental disabilities, behavioral disorders, speech difficulties, movement problems or seizures.
Some birth defects that affect the nervous system are
Sensory Birth Defects
Sensory birth defects affect the function of the eyes and ears. It can contribute to visual impairment and hearing loss.
Metabolic Birth Defects
Metabolic disorders cause conditions that limit the body’s ability to rid itself of waste materials or harmful chemicals. Two common metabolic disorders are
Phenylketonuria –
This results in decreased metabolism of the amino acid phenylalanine
Congenital hypothyroidism – Babies with this condition cannot produce enough thyroid hormone for the body’s needs.
Degenerative disorders
These are conditions that may not be obvious at birth but steadily get worse. Examples of degenerative disorders are:
There is no cure for birth defects yet. But children can be treated to help reduce the challenges they face. The treatment modalities will depend on the severity of the birth defect.
Some minor congenital diseases do not need any treatment,while the more severe structural anomalies may need surgery shortly after birth age and general health.Very often, children with birth defects will also benefit from medications, physical or occupational therapy, education intervention, and other types of help.
Folic Acid Prevents Birth Defects Prevention
Maternal deficiency in B Vitamins, especially Folic Acid, increases the chances of congenital disease in the baby. Doctors always prescribe Folic Acid supplements before and during early pregnancy to prevent birth defects in the baby.
Hera Pro Tip: 400 mcg of folic acid each day during the initial stages of pregnancy can significantly reduce the risk of birth defects in babies..- HERA
Hera’s prenatal vitamins ensure that every pregnant mother gets her daily dose of Folic Acid for a healthy baby.
Are Birth Defects Genetic?
Birth defects are caused by a complex mix of factors. This also includes flaws, mutations or changes in the genes. The parents may pass on genetic abnormalities to their baby, or a particular defect may be present in the family history of one or both parents.
The bottom line,
There are many types of birth defects. While it is impossible to prevent all birth defects, there are advances in medicine that allowed doctors to diagnose birth defects and treat them.
Folic acid can reduce the risk of certain birth defects. Besides consuming a diet rich in folic acid, it is important for women of reproductive age to consume 400 mcg of folic acid each day.