Congenital Abnormalities in New Born Babies

Congenital abnormalities among new born babies are also defined as congenital anomalies, birth defects, congenital disorders, congenital disease, neonatal disease and congenital malformations which occurred among babies due to some improper development, structural and functional anomalies such as kidney, heart, metabolic and other disorders and show their presence at the time of birth.

Newborn baby’s death rate is at peak because of this bad cause of congenital anomalies and preterm birth rate however some babies with such disorders suffer various types of chronic illnesses, disabilities and etc all through their life time. In order to reduce and check the increasing rate of congenital anomalies among babies, a big step was taken by the World Health Assembly in 2010 where they adopted a resolution in meeting with all Member States in order to promote the primary prevention measures and health of babies with congenital abnormalities. They implemented some strategies like:

  • It was made necessary to focus on the registration and surveillance systems all over the country.
  • Availability of the highly skilled expertise in order to strengthen the professional capacity to reduce the rate of birth defects.
  • Focusing on the research and studies on aetiology (causes) for the early diagnosis and prevention.
  • Promoting cooperation of the countries all over the world to balance the congenital disorders.

Those who affected with structural deformities are termed as congenital anomalies and congenital disorder when affected with genetic abnormalities. Neonatal disorders may be due to the improper intrauterine environment, errors in morphogenesis, chromosomal abnormalities, infection, outer environmental factors, improper vitamin intake, any substance (called teratogen) and etc. Some of the key facts related to the congenital abnormalities are mentioned below:

  • Congenital anomalies affect at least 1 per 33 new born babies which means around 3.2 million babies with birth defects take birth every year.
  • Most of the babies with congenital anomalies of heart defects, neural tube defects and Down syndrome suffer with severe disabilities whole life.
  • Around 270000 newborn babies with birth defects die during first 28 days after birth.
  • Genetic, infectious and environmental congenital disorders are difficult to identify however some congenital anomalies caused by the vaccination, improper folic acid and iodine intake and inadequate antenatal care can be identified and prevented.

Types of Congenital Abnormalities in Babies

Some of the congenital abnormalities from which a new born baby may be affected are listed below:

  • Oesophageal atresia and fistula: It is a type of congenital malformation to the natural breathing tube (trachea) and feeding tube (oesophagus). Both of the tube may be improperly formed in which upper oesophagus does not develop proper continuation to the stomach and lower oesophagus remains connected with trachea through the fistula (abnormal passage). After several weeks of baby birth the malformation is corrected with surgery.
  • Tracheoesophageal Fistula and Oesophageal Atresia: In this type of malformation there is a small opening between trachea and the oesophagus which requires proper surgery to get repaired.
  • Intestinal Atresia: It is an intestinal malformation a bowel segment (near duodenum) becomes narrow which creates problem in continuity with the GI tract. It requires a proper surgery to be repaired.
  • Malrotation with volvulus: Malrotation of the GI tract takes place in a baby during which migrations cannot be performed properly and part of GI tract gets connected to wrong place. It requires an emergency surgery to get fixed.
  • Hirschsprung’s disease: It is a GI tract malfunction in which the inner wall of the bowel does not develop proper nerve cells (ganglia) and causes bowel to contract but not relax and creates obstruction to the lower intestine. It requires very careful surgery to get corrected in which affected part is removed out and active parts are connected again.
  • Anorectal malformations: It is a malformation in which baby born with the absence of an anal opening instead it opened with small opening to the urinary tract or vagina. It requires the formation of new anus through the surgery.
  • Abdominal wall defects: Due to this abdominal wall defect some of the digestive system develops outside the body which requires surgical reinsertion of the intestine back to the body.
  • Ablepharia: It is the congenital absence or partial development of the eyelids.
  • Albinism: Absence of pigmentation to the eyes and skin and hair.
  • Anencephalia: Defect in brain development which causes small or missing brain hemispheres.
  • Ametria: Congenital absence of uterus among new born girl babies.
  • Color blindness: It is the genetic inability to distinguish between red and green colours.
  • Epispadias: Urethra is available on upper surface of the penis.
  • Clinodactyly: Availability of One or more toes and fingers at abnormal position.
  • Macroglossia: Large tongue.
  • Down syndrome: A baby with flat face and short stature as well as mental retardation.
  • Cheiloschisis: Baby having cleft lip or harelip.
  • Cleft palate: An availability of fissure in the hard palate.
  • Amelia: It is the absence of an arm or leg.
  • Meromelia: It is the absence of the part of an arm or leg.
  • Encephalocele: It is the protrusion of brain tissue from the fissure in skull.
  • Meningocele: It is the effect of central nervous system which causes sac protrusion from the brain.
  • Polysomy: A baby having one or more extra chromosomes in his/her somatic cells.
  • Hermaphrodism: A baby having both male and female characteristics.
  • Spina Bifida: It is the partial or complete leg paralysis and loss of control over bladder functioning due to the swelling over spine.
  • Umbilical hernia: Parts of the GI tract coming outside the stomach cavity due to the weak area around the belly button (umbilicus or navel).
  • Sickle cell disease: It is a genetic problem in which haemoglobin of the red blood corpuscles has tendency to disintegrate quickly which causes anaemia.
  • Cystic Fibrosis: A baby having inability to digest food.
  • Coeliac disease: A baby having allergy to gluten protein found in wheat and develop diarrhoea.
  • Clubfoot: A baby with his/her foot curved inwards or outwards.
  • Congenital dislocation of hip: A baby having disability in walking later in life.
  • Cerebral palsy: A baby with damaged brain parts controlling body movements.

What are the Causes and Risk Factors of Congenital Abnormalities

Here we would discuss some of the causes and risk factors causing congenital abnormalities in the new born babies however many causes of the congenital anomalies are not linked to the specific cause:

  • Socioeconomic factor is one of the indirect reasons of the congenital anomalies affects countries with less resource and families having less or no macronutrient and micronutrient in diet as well as higher exposure to the agents inducing abnormal prenatal development due to chromosomal abnormalities.
  • Genetic factors are main reasons of congenital anomalies which almost double the risk of neonatal death, mental disabilities and etc.
  • Maternal infections (syphilis and rubella) or infections during birth cause congenital diseases in the babies which generally occurs in low or middle income countries.
  • Lack of proper maternal diet is one of the most common reasons of the birth defects among babies. Diet having iodine deficiency, folates insufficiency, inadequate iron, calcium and other minerals hinder proper growth and development of the baby.
  • Obese or diabetic mothers are also prone to have baby with congenital anomalies.
  • Environmental factors like maternal exposure to pesticides, alcohol, tobacco, medications, psychoactive substances, harmful chemicals, maternal high dose of vitamin A, long exposure to radiation, living near mines and etc makes a mother more prone to have baby with congenital anomalies.

Preventive Measures for Congenital Abnormalities

Some of the congenital abnormalities or anomalies can be detected before baby birth and prevented however some of them caused due to genetic reasons cannot be prevented. Some of the congenital abnormalities preventive measures which must be promoted among people are mentioned below:

  • Pregnant woman must follow pre and peri conception care services and prenatal health care services which may help in detecting, diagnosing and treating the problem which in turn decreases the frequency of congenital anomalies.
  • Pregnant woman must follow the proper and healthy diet plan throughout her reproductive years and pregnancy. She must take diet full of vitamins, minerals, protein, folic acid and iodine as well as free of harmful substances and alcohol.
  • She must take care of her health and try to control the pre-conceptional and gestational diabetes by the regular counselling, check up, weight management, diet and etc.
  • She must know to avoid long exposure to the hazardous environmental substances like heavy metals, pesticides, harmful medications all through the pregnancy.
  • She should be promoted for the proper vaccination of baby after delivery especially against rubella virus.
  • Increasing the knowledge and strength of health professional staff about the birth defects prevention.

How to Deal with Congenital Abnormalities

It is hard for a mother to deal with the congenital anomalies detected of her baby however patience, care, follow up and protection is very necessary to cope with such condition.

  • A woman before conception must go for screening in order to get identified for the risk of genetic congenital disorders in her baby.
  • She must follow the healthy diet plan throughout the pregnancy.
  • She must go for the antenatal screening as well for the identification of carrier screening, Rhesus blood group incompatibility, maternal serum test, Down syndrome or neural tube defects during first trimester, severe foetal anomalies during second trimester, alcohol, tobacco and other psychoactive medication side effects in her.
  • She must go for the early clinical examinations and screenings of the baby for the check up of various common disorders like metabolic, haematological, hormonal disorders, deafness, heart defects and etc as early detection has probability of life-saving treatments and prevention of physical, mental, intellectual, visual and auditory disabilities.
  • She must go through the proper treatment procedures (which may involve paediatric surgery for structural anomalies and medications for functional anomalies like thalassaemia, sickle cell disorders, hypothyroidism and etc) under any well established health services available.
  • She can get support of rehabilitation services form any specialized rehabilitation centre.