Chromosomal Disorders

Causes of Chromosomal Disorders during Pregnancy and
Their respective Diagnosis Methods
Coraima De Jesús Martínez
Inter American University of Puerto Rico

Abstract
This paper points the main causes of chromosomal malfunctions during pregnancy stages, such as nondisjunctions and the methods used to diagnose these as well. Most of these malfunctions may lead to spontaneous abortions or anincreased risk of the child presenting a genetic disorder or a syndrome. Spontaneous abortions are mostly caused by chromosomal disorders that can be diagnosed prenatally, despise the tendency the diagnosis methods have of presenting erroneous results, the genetic source extracted from the fetus for sampling influences in the error rate as well. Since some genetic disorders are not treatable,there are methods that can help you prevent future abortions or determine beforehand if the fetus is not healthy or has some kind of genetic disorder, for example the Preimplantation Genetic Diagnosis (PGD), Fluorescence in situ hybridization (FISH) and Chorionic Villus Sampling (CVS) are some of the most common methods used. This paper exposes how habits and other factors, such as maternal andpaternal age may conspire altogether to causing a genetic disorder during pregnancy or a spontaneous abortion, in the same way it explains the benefits of having diagnosis tests before or during pregnancy.

Keywords: Chromosomal disorders, nondisjunction, Preimplantation Genetic Diagnosis, Fluorescence in situ hybridization, Chorionic Villus Sampling

Causes of Chromosomal Disorders duringPregnancy and
Their respective Diagnosis Methods
Have you ever wondered what goes on inside your body? How amazing cellular and molecular procedures conspire all together to form human life? As we all know these procedures don’t always go right due to internal and external factors that can be harmful and can lead to fatal consequences, such as unexpected abortions or children with various types ofgenetic syndromes. When these events occur, the parents should consider acknowledging the cause the problem and the reason as well. With the advanced technology now a day, gynecologists, geneticists and scientists have managed to develop few methods to diagnose and treat genetic malfunctions at a prenatal stage. Can you imagine going through the pain of having an abortion and not knowing what hadgone wrong, or trying desperately to become a parent and not being able to because of several failed attempts? Factors like age or bad habits can contribute to these results.
Some chromosomal abnormalities are caused by external factors such as smoking habits during pregnancy or a damaged karyotype in the mother and can have an absolute effect with the health status of the child. So a person’shealth actually starts before the person is even born. For example, a person’s mother might already have a damaged chromosome that she passes on to the person. In fact, in his article “Are children of older fathers at risk for genetic disorders?,” Jung (2003) affirms that when a child presents a “recessive disorder” it is because the mother had the disorder in a recessive allele which means that itwas not expressed in her phenotype; it was just there not active, but it became active and was expressed on the phenotype of the progeny (p.195). In fact, the damage to the chromosomes will have an effect on whether the fetus makes it to term or is even born in the first place. During his investigation “Chromosomal anomalies in first-trimester miscarriages,” Ljunger (2005) affirmed thatapproximately half of the women, who presented an abortion, did have a damaged karyotype (p.1103). Even damage that is considered chosen can sometimes be beyond the person’s control. We’ve all heard that smoking can damage a fetus, but the mother’s inclination to smoke may be because one of her chromosomes is already damaged or predisposed that way. In the article, “Genetic influences on smoking cessation...