Birth Defects may be Reduced by Routine Collection of Family History

Birth Defects may be Reduced by Routine Collection of Family History

Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. These abnormalities lead to mental or physical disabilities or are fatal. There are more than 4,000 different known birth defects ranging from minor to serious, and although many of them can be treated or cured, they are the leading cause of death in the first year of life. Moreover ;many women filling prescriptions that can increase risk of birth defects remain at risk of pregnancy.


A new study of nearly a half million girls and women shows that those born with birth defects are less likely to survive, especially during the first years of life, than others born without them. Survival is lowest for such catastrophic conditions as anencephaly, hydrocephalus, other syndromes and central nervous system irregularities and highest for cleft palate and lip, clubfoot and malformations of skin, hair, nails and genitals.

To reduce infant mortality we must find the causes of birth defects and implement strategies to prevent them. There has been great progress in finding and preventing some birth defects, such as congenital rubella, yet in the United States more than 150,000 babies are born each year with serious birth defects. Some causes of birth defects have been identified in the past 40 years -- human teratogens, chromosomal defects, and single-gene defects - but in about two thirds of cases the causes of birth defects remain unknown. Both environmental exposure and genetic predisposition are thought to help cause birth defects, but very few tools have been available to study their relative importance.

An egg or sperm cell may divide incorrectly, resulting in an egg or sperm cell with too many or too few chromosomes. When this cell with the wrong number of chromosomes joins with a normal egg or sperm cell, the resulting embryo has a chromosomal abnormality. A common type of chromosomal abnormality is called a trisomy. This means that an individual has three copies, instead of two, of a specific chromosome.

American women of childbearing age commonly take prescription drugs that can cause birth defects, but only about half are receiving contraceptive counseling from their doctors or other health care providers. About half of pregnancies in the United States are unintended, according to background information in a study.

There are two main types of birth defects: structural and functional/developmental. Birth defects such as congenital heart defects, neural tube defects, thalassemia, sickle cell disease, Down syndrome, and glucose-6-phosphate dehydrogenase deficiency, talipes /Clubfoot etc.

Structural birth defects are related to a problem with body parts. Some physical problems include cleft lip or cleft palate, heart defects, such as missing or misshaped valves, and abnormal limbs, such as a club foot. They also include neural tube defects, such as spina bifida, problems that are related to the growth and development of the brain and spinal cord.

Functional birth defects are related to a problem with how a body part or body system works. These problems often lead to developmental disabilities.

People usually think the last trimester of pregnancy is when developing brain function is most susceptible to damage. A single prenatal dose of methamphetamine -- commonly known as speed -- may be enough to cause long-term neurodevelopmental problems in babies, found by University of Toronto researchers. It’s an important finding, given the increasing use of club drugs among women of childbearing age.

U-M scientists have learned from their study of NPHP genes suggests that tiny hair-like projections called cilia, found on the surface of cells throughout the body, could be the key to congenital diseases affecting the kidneys and many other organs. Another study reported that women taking valproate alone had a fourfold increased risk of having a child with a major malformation

Additionally, the facial features seen with fetal alcohol syndrome may also occur in normal, healthy children. Alcohol related birth defects (ARBDs) refer to the physical defects that occur from fetal alcohol exposure.Infants conceived with use of intracytoplasmic sperm injection or in vitro fertilization have twice as high a risk of a major birth defect as naturally conceived infants.

Environment plays a strong part in repeated defects. Study reported that if a woman's first child had a birth defect, the risk of her second child's being affected was increased, but that this excess risk in the second child was lower if the woman moved after the birth of her first child than if she stayed in the same place. They attribute this difference to environment.

A study of construction workers in the Netherlands, conducted in part by the University of Alberta in Edmonton, Canada, links low birth weight and birth defects to paternal, airborne exposure to organic solvents such as paints, thinner and cleansers.

One of the first things every new parent does is count the baby's fingers and toes. But, women who smoke during pregnancy may be in for an unhappy surprise, because smoking increases the odds that a baby will be born with finger or toe deformities.
Just a half a pack a day increased the risk of having a baby with extra, missing or webbed fingers or toes by nearly 30 percent, according to a study in a recent issue of the journal Plastic and Reconstructive Surgery.

The Centers for Disease Control and Prevention sponsored workgroup explored 4 topics that emerged as leading issues: (1) optimizing use of family history in primary care; (2) linking obstetric and pediatric clinicians through preconception health care; (3) assessing potential campaigns to prevent chronic disease, starting with family history assessment in childhood; and (4) using birth defect family histories for prevention efforts.

Most recently a study by Department of Epidemiology, University of Iowa shown the significence of family history reports for evaluating major birth defects and stated that:

Patients with 1 or more affected family members may be at increased risk for having a child with a major birth defect; thus, accurate knowledge of these conditions among family members of their patients gives the clinician the ability to provide improved risk assessment and reproductive planning.

Such knowledge can also serve as motivation for patients to adhere to healthy behaviors such as folic acid use or smoking cessation. To evaluate the utility of collecting family history reports of major birth defects as a public health strategy, 6 key criteria were examined by reviewing the relevant published literature. Overall, the review showed that major birth defects satisfied several of the criteria.

Additional research is needed, however, regarding the awareness of parent reports of the occurrence of these conditions among relatives and how knowledge of birth defect diagnoses and related risk factors are transmitted among relatives. Such research needs to encompass not only immediate family members but also other first-degree and second-degree relatives. In summary, routine collection of family history reports of birth defects in pediatric practice holds promise as a public health strategy to reduce the burden of morbidity, mortality, and disability associated with major birth defects.

Prenatal Quad test:

The maternal blood triple and quad tests, also called the triple and quad screens, are a way to check for the risk of birth defects during pregnancy before a baby is born. The triple test measures the levels of 3 proteins and hormones during pregnancy from a sample of the mother's blood. The quad test measures 4 proteins and hormones.

Substances that may be measured in these tests are:

Alpha-fetoprotein (AFP), a protein produced by the baby's liver
Human chronic gonadotropin (hCG), a hormone produced by the placenta
Estriol (uE3), a hormone produced in the placenta and the liver of the baby
Dimeric inhibin-A (DIA), a protein made by the placenta.

Prenatal tests can identify the chance that a baby has certain congenital, genetic, chromosomal problems, fetal abnormalities, including heart problems. An experimental lung cancer screening test designed to look for precancerous genetic damage could help better identify patients at risk for the disease, while opening up the possibility for earlier diagnoses and preventive treatments, a new study suggests.

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