Journal of Birth Defects is an official Open Access, peer-reviewed, scholarly research journal which aims to share the latest and advance information, studies and researches related to causes, diagnosis and treatments of birth defects. It publish the most complete and reliable source of information in the mode of original articles, review articles, case reports, short communications, etc. covering all the aspects of Birth Defects.
The aims and scope of the journal includes current findings in the area of Congenital heart disease, Down syndrome, Cleft lip and cleft palate, Spina bifida, Club foot, Phenylketonuria, Edwards' syndrome, Missing or Undeveloped Limbs, Sickle-Cell Disease, PKU (phenylketonuria), Fragile X Syndrome, cystic fibrosis, congenital dislocated hip, Tay-Sachs disease, etc.
The journal accepts manuscripts in the form of original research article, review article, short communication, case report, letter-to-the-Editor and Editorials for publication in an open access platform. All the articles published in the journal can be accessed online without any subscription charges and will receive the benefit of extensive worldwide visibility.
Processing of the articles will be done through the Editorial Manager System for hassle free operation by the authors and the publisher. It helps in maintaining the quality of the peer review process and provides easy access to the authors to track the process of manuscript evaluation and publication in an automated way. All the submitted manuscripts undergo peer review done by the external subject matter experts under the aegis of the Editor-in-Chief or assigned Editorial committee member of the Journal of Birth Defects. Approval of at least two independent reviewers and the editor is mandatory for any manuscript to be considered for publication.
Submit manuscript as an e-mail attachment to the Editorial Office at [email protected]
PDA is a heart problem that is frequently noted in the first few weeks or months after birth. It is characterized by the persistence of a normal fetal connection between the aorta and the pulmonary artery which allows oxygen-rich (red) blood that should go to the body to recirculate through the lungs. All babies are born with this connection between the aorta and the pulmonary artery. While your baby was developing in the uterus, it was not necessary for blood to circulate through the lungs because oxygen was provided through the placenta. During pregnancy, a connection was necessary to allow oxygen-rich (red) blood to bypass your baby's lungs and proceed into the body. This normal connection that all babies have is called a ductus arteriosus. At birth, the placenta is removed when the umbilical cord is cut.
Your baby's lungs must now provide oxygen to his or her body. As your baby takes the first breath, the blood vessels in the lungs open up, and blood begins to flow through them to pick up oxygen. At this point, the ductus arteriosus is not needed to bypass the lungs. Under normal circumstances, within the first few days after birth, the ductus arteriosus closes and blood no longer passes through it.
In some babies, however, the ductus arteriosus remains open (patent) and the condition now becomes known as patent ductus arteriosus (PDA). The opening between the aorta and the pulmonary artery allows oxygen-rich (red) blood to recirculate into the lungs. Patent ductus arteriosus occurs twice as often in girls as in boys.
Pulmonary valve stenosis is a condition in which a deformity on or near your pulmonary valve, the valve that influences the blood flow from your heart to your lungs, slows the blood flow. Adults occasionally have the condition as a complication of another illness, but mostly, pulmonary valve stenosis develops before birth as a congenital heart defect.
Pulmonary valve stenosis ranges from mild and without symptoms to severe. Mild pulmonary stenosis doesn't usually worsen over time, but moderate and severe cases may worsen and require surgery. Fortunately, treatment is highly successful, and most people with pulmonary valve stenosis can expect to lead normal lives.
The aorta is the main artery that carries blood out of the heart to the rest of the body. Blood flows out of the heart and into the aorta through the aortic valve. In aortic stenosis, the aortic valve does not open fully. This decreases blood flow from the heart. As the aortic valve narrows, the left ventricle has to work harder to pump blood out through the valve. To do this extra work, the muscles in the ventricle walls become thicker. This can lead to chest pain. As the pressure continues to rise, blood may back up into the lungs. Severe aortic stenosis can limit the amount of blood that reaches the brain and the rest of the body. Aortic stenosis may be present from birth (congenital), but most often it develops later in life. Children with aortic stenosis may have other conditions present from birth. Aortic stenosis mainly occurs due to the buildup of calcium deposits that narrow the valve. This is called calcific aortic stenosis.
The problem mostly affects older people. Calcium buildup of the valve happens sooner in people who are born with abnormal aortic or bicuspid valves. In rare cases, calcium buildup can develop more quickly when a person has received chest radiation (such as for cancer treatment). Another cause is rheumatic fever. This condition can develop after strep throat or scarlet fever. Valve problems do not develop for 5 to 10 years or longer after rheumatic fever occurs. Rheumatic fever is becoming rarer in the United States. Aortic stenosis occurs in about 2% of people over 65 years of age. It occurs more often in men than in women.
Clubfoot describes a range of foot abnormalities usually present at birth (congenital) in which your baby's foot is twisted out of shape or position. In clubfoot, the tissues connecting the muscles to the bone (tendons) are shorter than usual. Clubfoot is a fairly common birth defect and is usually an isolated problem for an otherwise healthy newborn. Clubfoot can be mild or severe. About half of children with clubfoot have it in both feet. If your child has clubfoot, it will make it harder to walk normally, so doctors generally recommend treating it soon after birth. Doctors are usually able to treat clubfoot successfully without surgery, though sometimes children need follow-up surgery later on.
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema.
Sickle cell anemia is an inherited form of anemia — a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body.
Normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell anemia, the red blood cells become rigid and sticky and are shaped like sickles or crescent moons. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.
There's no cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent problems associated with the disease.
Congenital hip dislocation (CHD) occurs when a child is born with an unstable hip. It’s caused by abnormal formation of the hip joint during their early stages of fetal development. Another name for this condition is “developmental dysplasia of the hip.” This instability worsens as your child grows.
The ball-and-socket joint in the child’s hip may sometimes dislocate. This means that the ball will slip out of the socket with movement. The joint may sometimes completely dislocate.
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood.
Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.
Esophageal atresia and fistula are malformations in which the natural breathing tube, known as the trachea, and the feeding tube, called the esophagus, are improperly formed. Most often the upper esophagus lacks a connection to the stomach while the lower esophagus connects to the trachea through an abnormal passage called a fistula. Babies with these types of malformations are fed with total parenteral nutrition (TPN) or with a feeding tube directly into the stomach. During this time, the baby gains strength and the esophagus will continue to grow. After several weeks, the malformation is repaired with surgery. About 20% of babies with these types of malformations will also have other complications, such as heart disease.
Hirschsprung’s disease is a condition in which nerve cells called ganglia have not formed on the inner wall of the bowel. This causes the bowel to contract and not relax, obstructing the lower intestine. Boys are about 10 times more likely to have the disease than girls. Again, surgery is used to correct the malformation. Surgeons will identify the bowel section without ganglia, cut it out, and reattach the two ends of healthy bowel. Sometimes a colostomy, or the surgical removal of some of the bowels, is necessary, and the surgeons will do the final repair at six to 12 months of age. Many babies who have undergone this procedure will develop and lead normal lives, since enough functioning bowel remains for digestion. However, a small number of babies with Hirschsprung’s disease also have an inflammation of the large intestine called colitis, which may complicate surgery and can be life threatening.
Some babies are born with malformations of the anus, rectum, or both. There are several general types. They have varying degrees of severity and are treated with surgery. These malformations are often specific to boys and girls. The malformation can come in the form of an absence of an opening where the anus should be; a fistula, or small opening from the rectum to the urinary tract or to the vagina; and many variations from these general categories. Depending on the exact nature and severity of the malformation, babies may be left completely continent, with full control over their bowel movements; partially continent; or incontinent. In general, surgeons will close the fistula and, in the case of a missing anus, create an opening and gently pull though the bottom of the bowel, creating a new anus.
Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.
Acardia is a very rare, serious malformation that occurs almost exclusively in monozygous twins (twins developing from a single egg). This condition results from artery to artery connections in the placenta causing a physically normal fetus to circulate blood for both itself and a severely malformed fetus whose heart regresses or is overtaken by the pump twin's heart.
Author(s): Dulani Siddhisena* and Himanshu Goel
Background: Congenital anomalies are becoming an increasingly important contributor towards paediatric morbidity as a consequence of improved survival and higher standards of care. Aims: To exa ... Read More