genetic birth defects

There are different reasons for birth defects in newborns including those that appear after birth however not all of the birth defects in newborns are environmental caused some are considered genetic birth defects. When a baby or fetus has a defective or missing gene then they may have what is considered genetic birth defects. An unborn child inherits one of each pair of chromosomes from each parent. If there is a problem with those genes there may be a birth defect. But there are other causes of birth defects too. Birth defects may be seen in the womb before birth. Some are treatable. Some require surgery. Some are minor with no complications. With over 4000 known birth defects over fifty percent have no known cause.

Birth defect information

There are various forms of birth defects and genetic birth defects are one of the broad categories of birth defects. Genetics deals with the molecular structure and functions of the genes. It also studies the patterns of inheritance of genes from one or both of the parents to their offspring. Besides genetic birth defects there are other reasons for birth defects like the mother’s diet, her vitamin intake or lack thereof, her glucose levels, certain infections like sexually transmitted ones. Alcohol use and abuse, certain antibiotics or prescription drugs used around the time of conception or ovulation may cause birth defects. There are many things that may have long term effects on fetal growth during the term of a mother’s pregnancy.

How parents pass genes

Genetics is the science of genes and heredity. An abnormality of the inherited gene may cause genetic birth defects. Babies inherit one of each pair of chromosomes from each parent. One or both of the parents can pass on to the unborn baby a bad gene or defective gene. Some of the genetic birth defects can only occur when both parents pass on a defective gene. Sometimes this type of birth defect happens only from a mother’s gene. Even the structure of the chromosomes may be faulty which may cause the birth defect. The baby may have too few or too many chromosomes some of which may be damaged. 

Some of the genetic birth defects

Generally genetic birth defects are considered to be in the metabolic category and they often are not visible. Most of them are considered to be recessive. An example of genetic birth defects is Tay-Sachs. Besides genetic causes some birth defects may occur under a combination of genetic and environmental reasons. One of these types of birth defects is Duchenne which is muscular dystrophy which is a progressive muscular weakness. Another is Hemophilia which is a blood clot disorder. Perhaps a rarer one in the US is Anotia/Microtia which is the absence of one or both ears. Down syndrome is one of the genetic defects that are caused by a chromosomal disorder which is one of the more common birth defects.

Tay-Sachs disease

This is one of the genetic birth defects that a baby gets due to a lack of enzyme that is required to break down fatty substances in the brain cells. When these fatty substances begin to build up they will destroy the brain cells. The result may be the baby is blind, paralyzed or is dead by the age of five. The symptoms generally begin to appear at the age of six months. All forms of this disease are inherited. There is no known treatment or prevention at this time for Tay-Sachs disease. However there is a test to find out if the parents may be the carrier of this gene. It may result because of mutations in different genes.

Marfam Syndrome

This is a connective tissue disorder and is one of the forms of genetic birth defects. The connective tissues are those things or think of strands, which hold the other tissues together. It is caused by mutations in the fibrillin genes. Marfam syndrome can affect all races and ethnic groups and both males and females. Most of the symptoms can be managed so long as they were diagnosed early. It can affect all the major body systems like the heart and blood vessels.


This is a form of dwarfism. This also the oldest recorded birth defect. It is a genetic disorder of the bone growth resulting in abnormal body proportions. Your physician may detect it before the birth of the child using X-rays or a physical exam. Generally the person has poor muscle tone. The skeleton cannot be made normal.

Cystic Fibrosis

This is a genetic disease that generally affects Caucasians. Often referred to as CF it is an inherited disease that affects the lungs and digestive system. It happens when the unborn child inherits a defective gene for the same disease from their two healthy parents and it is often referred to as a recessive inheritance. There is no cur for it at present. It was only defined officially in 1989 when the abnormal gene was discovered. So the study of birth defects is a continuing and ongoing struggle. It effects the salt movement and water in and out of the cells like the lungs and pancreas. It makes thick mucus which causes breathing problems. It is the most common life threatening genetic disorder in the US.

Prevention of genetic birth defects

Genetic birth defects are not preventable. This form of birth defect happens from defective genes and considering the human body has about 25,000 genes per cell and the human body has 100 trillion cells. Cells are the smallest unit of life classified in a living thing. So there are many chances for defective cells leading to this type of birth defect. So if you have a family history of this type of birth defect you certainly need to pay attention during prenatal consultations. If you or your partner has genetic birth defects or if you already have a child with a birth defect you need to share this information with the physician so they know about it.