pre marital genetic counseling

PRE-MARITALGENETIC

COUNSELING P R E S E N T E D B Y,

P A T E L M A N S I 2 N D Y E A R M . S C ( N )

S A C O N

DEFINITION

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Most genetic disorder are quite rare and affect one person in several thousand or millions.

PURPOSES

• Provide concrete, accurate information about inherited disorders.• Reassure people who are concerned that their child may inherit a

particular disorder that the disorder will not occur.• Allow people who are affected by inherited disease to make informed

choice about future reproduction.• Educate people about inherited disorder and the process of

inheritance.

• Offer support by training health care professionals to people who are affected by genetic disorders.• Comprehend the medical facts, including diagnostic, probable

course of the disorder and available management.• Possible adjustment to the disorder in an affected family member.

CAUSES AND RISK FACTOR

• Family history of a genetic disease.

• Consanguineous marriage.

• Environmental factor such as smoking, acclimate, physical and mental abuse, exposure to toxins, pathogen, radiation and chemical.

• High birth rate• Recurrent abortion or still birth deliveries• Certain cancer

IMPROPER ANTENATAL CARE

LACK OF EXERCISE

DIAGNOSTIC TEST FOR GENETIC DISEASE BEFORE MARRIAGE 

CARRIER TESTING This is used to identify people who carry one copy of gene mutation that, when present in two copies causes a genetic disorder. If both parents are tested, the test can provide information about a couple’s risk of having a child with a genetic condition\

PREMARITAL GENETIC COUSELING COMPONENT

A PARENT WITH GENETIC DISORDER.

If the adult onset genetic disorder (cancer, hypertension, diabetes mellitus, hemophilia, thalassemia, pre term baby, down syndrome, congenital heart disease, ) should diagnose before their marriage  

• If from one of parent is carrier of genetic disease, the offspring may have 25% chance will have disease and 25% chance to become a carrier of a genetic disease, And 50% will not affect by it.

• If both the parents are carrier than there will be 50% of chance have a carrier child, 25% will have unaffected child and 25% will be affected from genetic disease.

LIFE STYLELife style with potential negative effects are sedentary life style over eating or poor nutrition, insufficient rest sleep, poor personal hygiene. Other habit process negative effects are use of Tobacco and alcohol.

AGE OF CONCEPTION BERORE 17: The children of teenage mother are more likely to be born prematurely with the low birth weight.

AFETR 30: As age increased the more chance for down syndrome new born, or mental retarded baby. Not only baby but mother get affect with complication of pregnancy, induced diabetes and high blood pressure etc.

CONSAGUINITYConsanguineous couples face increased the risks of having children with autosomal recessive disorders. Consanguinity means the property of being from the same kinship as another person. in that aspect, consanguinity is the quality of being descended from the same ancestor as another person. There are 4 degree of consanguinity  

1st degree: Sister marry Brother their Child has 50% chance genetic disease  2nd degree: Sister’s son marry with brother’s daughter their child may have 25% chance to get genetic disease. 

3rd degree: Great grandson marry with great granddaughter their child having 12.5% chance for genetic disease.  4th degree: Son of great granddaughter marry with daughter of great grandson having 6.25% of chance child with genetic disease. 

DIET PATTERNAdequate nutrition is important during life time. Some may eat more (over eating), some may eat less food (less eating). The BMI is an attempt to quantify the amount of tissue mass in an individual, and then categorized that person as underweight or obese. commonly accepted BMI ranges are under weight :18.5, they should gain their weight by healthy, wholesome and balanced diet (which include all vitamins and minerals) obese: over 30 and they should avoid junk food, tinned and fatty food. In case of salt intake should 5gram per day.  

ENVIRONMENTAL EFFECTNearly all disease result from a complex interaction between an individual’s genetic make-up and the environmental agents that he or she is exposed to. examples of environment agent mold, ozone, pesticides, air pollution, cleaning solutions, dust mites, chemicals (phenol, aluminum) exposure to radiation and medications.

PREVENTIVE MEASURES FOR GENETIC DISEASE AV O I D S M O K I N G A N D A L C O H O L .

Regular exercise.

Avoid exposure to toxins, pathogen, radiation and chemicals

premarital genetic screening couple at risk.

Pre-and peri conceptional supplementation of vitamins, including folic acid (3month before planning for pregnancy, 3 month after conception), for women in reproductive age group to reduce the risk of neural tube defect.

• Encourage women to procreate at the ideal reproductive ages (20-30 years) to reduce non-disjunction chromosomal disease.• Improve quality of birth care.

Rubella immunization.

Avoid consanguineous marriage.