Genetics and Crises Interventions



Genetics and Crises Interventions

Introduction

Aneuploid fetus is the abnormality in the fetal chromosomal arrangements. Aneuploid represents the abnormal chromosomal numbers. It is the most common genetic abnormality during diagnosis through prenatal ultrasonography. Aneuploidy can be triploid, trisomic and monosomic, involving changes in the chromosomal number 21, 18, and 13, X or Y. These abnormalities usually appear in the first and second trimester of pregnancy (Benacerraf R Beryl, 2013). The aim behind the study is to evaluate the risks associated for the development of an Aneuploid fetus in a pregnant mother, which further aggravate the chances of development of Huntington disease.

The pregnant women have to test for the amniocentesis with in the first trimester of pregnancy to avoid any further complication with in the fetus and mother herself.

The diagnostic tests carried out during pregnancy for the determination of any abnormal developments in the pre birth fetus is amniocentesis. The influencing factors that may to amniocentesis include age of mother, family or genetic history, and to the pregnant mother's history. Serious chromosomal disorders i.e. Down's syndrome, sickle or biconcave cell anemia and spinal bifida detected through amniocentesis. The existence of fetal Aneuploidy in a pregnant mother diagnosed through the CCF (Circulating cell free) DNA as an analyte. The studies have shown that the fetal DNA composed of 3-20% of cell free circulating DNA in the maternal plasma (Jensen, T. J., et al, 2013).

It established through various studies that the fetal neural examination in the first trimester of pregnancy in between, 11-14 weeks is authentic and reliable screening process for the determination of fetal Aneuploidy.

The Huntington disease classified as an autosomal disorder due to progressive corrosion of the rational activities, inflexibility, progressive chorea and bradykinesia. It is a rare neurodegenerative disorder due to the mutation in the IT-15, which involve the repeated sequences of (CAG), a trinucleotide sequence which at the Huntington (mHtt) amino end encode glutamine. The diagnosis of pregnant women with the Huntington disease has a serious impact on the fetal growth and chances of psychopathological disturbances in the neonate (Rosas, H., Salat, et al, 2008).

Discussion Analysis

Pregnant mother with Aneuploidy and tests for amniocentesis and Huntington's disease

The women AA with the symptoms of Aneuploid fetus, after diagnosis, are in a state of shock. AA reported for the depression phases initially and advised by her gynecologist for the immediate further screening. Aneuploidy is the abnormal change in the chromosomal sequences, in the genes. The AA diagnosed with the Aneuploidy and suspected for the extra copy of the chromosome number 21. AA suspected for a birth defect and can develop congenital abnormality in the neonate. The chromosome being the storehouse of the DNA represents a crucial constituent of life. The nurse advised AA to make a decision regarding the amniocentesis and further examination and lab testing for herself and fetus to eradicate the risk indicating the presence of Huntington's disease. At this stage, the AA is facing mental and emotional disturbance she has reported for persistent depression and anxiety ...