Genetic Testing for Inheritable Diseases, Recurrent Miscarriages

There are 46 chromosomes present in all the healthy human beings, which are present in every cell of the body. Chromosomes include one pair of sex chromosomes and 22 matching pairs, which carry genetic material (or DNA). Each chromosome makes unique individual.

You receive genes from each of your biological parents; 0.5 from your mother and 0.5 from your father. The genes verify that options you inherit, like hair, blood type, eye color and different features - like your mother's nose or your father's mouth.

• Inheritable Diseases

  Diseases can be developed through inheritance or can be carried via genes such as Tay-Sachs and hemophilia that are passed from parents to children. This might happen due to the flaws in chromosomes.

  Amniocentesis and chorionic villus sampling are the genetic tests, which are performed during pregnancy to determine any abnormalities. If a woman is having a history of miscarriage and problems in getting pregnant then there is a genetic test to detect infertility. This test also detects any chromosomal anomaly in the individual.

  Genetic problems with the embryo are accountable for a high percentage of fetal loss before 12 weeks of gestation.

• Chromosomal analysis

  This test looks at the number, structure and arrangement of chromosomes, which is found in the sample of cells.

  In men it is indicated, if the man is azoospermic, or has very low count and motility of sperms.

In a woman who has irregular periods and had delayed menarche got period after taking medicine, need evaluate.

• Recurrent Miscarriages

Miscarriage is one among the foremost disturbing experiences which can happen to any female. When two or more miscarriages happen then women are considered to have recurrent miscarriage.

Causes:

• Chromosomal anomalies
  Up to 72% of miscarriages are caused by chromosomal abnormality. A lot of common in females above 35years.
• Uterine abnormalities
  Uterine abnormalities account for 10 to 20% of continual miscarriages beyond 12 weeks of pregnancy. There can be a partial or a complete septum in the uterus conditions called subseptate - a septate uterus.Fibroid distorting the uterine cavity can be another reason.
• Incompetent Cervix;
  Incompetent cervix could cause abortion by 17 or 18 weeks. A surgical sew round the cervix is called a cervical cerclage.The situation can be salvaged most of the time by putting a suture around the cervix in the procedure.

Authored By Dr. N.P. Vijayalakshmy MBBS, M.D., D.G.O