Fetal medical conditions can be some of the most daunting and difficult things that a family may face while expecting a new baby. The uncertainty of a diagnosis can be especially hard to cope with, and in some cases, genetic testing may be the only way to obtain a definitive answer. Genetic testing provides a glimpse into the potential health of a baby and can offer valuable insight into the risks associated with certain medical conditions.
Fetal Chromosomal Abnormalities
Chromosomal abnormalities are the most common birth defects, affecting approximately 15 percent of all babies. Chromosomal abnormalities may be detected by amniocentesis and chorionic villus sampling (CVS).
Chromosomal abnormalities are most often detected during the first trimester because of the increased risk of miscarriage with chromosomal abnormalities during this time.
The risk of miscarriage is generally highest when an abnormality is present in a critical region of the chromosome. For example, if the mother has a chromosomal abnormality in the short arm (paternal) of chromosome 5, the risk of miscarriage is higher than if the mother has a chromosomal abnormality in the long arm (maternal) of chromosome 5.
Congenital Heart Defects
Congenital heart disease (CHD) is one of the most common chromosome abnormalities that can be detected by blood tests or ultrasounds. CHD can be detected in utero by amniocentesis or chorionic villus sampling (CVS).
Although CHD is often detected by amniocentesis, CVS is preferred for high-risk pregnancies because it results in fewer complications. The risk of miscarriage with CHD is generally highest during the first trimester and decreases after 12 weeks gestation.
The risk of miscarriage with CHD is generally higher if a single-fiber heart defect is present because of the increased probability that the fetus will have a fatal event.
Cerebral palsy is a group of disorders that affect movement and coordination in a person’s body. Cerebral palsy can be caused by several genetic conditions that cause problems with brain development or central nervous system development. Many of these conditions are inherited in an autosomal recessive pattern, meaning that only one copy of the gene responsible for the condition is needed for it to be passed on to a child.
One such condition that can be diagnosed by genetic testing is cerebral palsy. The most common form of cerebral palsy is spastic diplegia, which is often caused by a genetic disorder called spinal muscular atrophy (SMA). This condition is often tested for by genetic testing and often diagnosed before birth.
Cerebral palsy can also be caused by birth trauma that’s often associated with medical negligence. At that point, it’s within the family’s discretion if they’re like to file a personal injury lawsuit.
Fetal Alcohol Syndrome (FAS)
Fetal alcohol syndrome (FAS) is a group of disorders that can result from exposure to alcohol during pregnancy. FAS includes many conditions such as growth retardation, facial anomalies, poor central nervous system (CNS) development, and mental retardation. FAS can be diagnosed by genetic testing and is often diagnosed before birth.
The most common form of FAS is fetal alcohol syndrome (FAS), which causes growth retardation, facial anomalies, poor CNS development, and mental retardation. FAS can be diagnosed by genetic testing and is often diagnosed before birth.
Neural Tube Defects
Neural tube defects (NTDs) are a group of birth defects that affect the development of the brain and spinal cord in an unborn baby. They are caused by the failure of the neural tube to close properly during the early stages of pregnancy. The neural tube is an embryonic structure that gives rise to the brain and spinal cord. When the neural tube does not close properly during development, it can cause serious birth defects, such as anencephaly, spina bifida, and encephalocele.
NTDs can have serious consequences for the health of an unborn baby, including physical and neurological problems. For example, babies born with anencephaly are usually stillborn or die shortly after birth due to the lack of a functioning brain. Babies born with spina bifida can suffer from physical disabilities, such as paralysis of the lower limbs, bowel and bladder control issues, and hydrocephalus. Encephalocele can cause brain damage and other neurological deficits.
NTDs are usually detected during prenatal screening tests such as ultrasound and amniocentesis. Treatment for NTDs depends on the type and severity of the defect. In some cases, surgery may be needed to close the neural tube and reduce the risks associated with the condition. In other cases, medications may be used to reduce the risk of complications.
Prevention of NTDs is possible through folic acid supplementation during the early stages of pregnancy. Folic acid is a B-vitamin that helps the neural tube close properly. Women are encouraged to take a daily supplement of 400 micrograms of folic acid during the first trimester of pregnancy to reduce their risk of having a baby with NTDs.
NTDs can have a serious impact on the health and well-being of an unborn baby and their family. Early detection and treatment of NTDs can improve the chances of a healthy outcome for the baby. It is important that women talk to their doctor about their risk for NTDs and get the necessary prenatal tests to detect any potential problems.
Genetic testing can be used to diagnose a variety of fetal medical conditions, including diabetes mellitus, Down syndrome, and neural tube defects. In some cases, early detection and treatment of these conditions can improve the health and well-being of the baby. It is important for women to talk to their doctor about their risk for fetal medical conditions and get the necessary prenatal tests to detect any potential problems.