Prevention of genetic disorder ( pgd ) 3

how to avoid genetics disorder

1. Prevention of genetic disorder Done by: Wafa Bahshwan Hind alshankiti Hanan bamousa Hayah selali Under the supervision: Dr.Mohammad Al- hefny 3/15/18 1

2. Prevention of genetic disorder What is genetic disease ? Methods to prevent genetic disorder . Screening program in KSA and worldwide ( PMS ,NNS ) . PGD Teratology and teratogens ( definition , effect ,example ) Maternal health during pregnancy . 3/15/18 2

3. 1- What is genetic disease ? A genetic disease or disorder is the result of changes, or mutations, in genes or chromosome . (Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes). 3/15/18 3

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5. 2.1 - genetic counseling Genetic counseling  is a process to evaluate and understand a family's risk of an inherited medical condition. A  genetic counselor  is a healthcare professional with specialized training in medical  genetics  and  counseling . 3/15/18 5

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7. 2.2.1- Carrier screening Carrier screening is used to identify people who carry one copy of a gene mutation that when present in two copies causes a genetic disorder 3/15/18 7 offered to individual who have a family history of a genetic disorder & people in a ethnic group with an increased risk of specific genetic conditions if both parents are tested , the test can provide information about a couples risk of having a child with a genetic condition.

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9. 2.2.2-Prenatal screening Prenatal screening  is offered during pregnancy to help identify fetuses that have certain diseases ex; (Down syndrome) These usually involve blood tests , an ultrasound and some times Chorionic Villus Sampling   3/15/18 9 They test baby overall development and check to see if baby is at risk for genetic conditions. They also check baby for heart defects, cystic fibrosis, and other developmental problems

10. ِ EX of Diseases diagnosed by Prenatal screening 3/15/18 10

11. Diagnosis used in prenatal screening 3/15/18 11

12. 2.2.3- NNS in Saudi Arabia There is more than 30 board certified clinical geneticists in Saudi Arabia. 3/15/18 12 The first Saudi national newborn screening program was for congenital hypothyroidism and was established in November 1989 More recently, the MOH has assumed full responsibility of newborn screening, which is now performed as a national program.

13. 2.2.3- Neonatal screening (NNS) Neonatal screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth. 3/15/18 13

14. ِEX of Disorder diagnosed by NNS galactosemia sickle-cell anemia 3/15/18 14

15. How is the neonatal screening done? 3/15/18 15

16. 2.2.4- PMS in Saudi Arabia years ago Saudi Arabia has a high prevalence of hereditary hemoglobin disorders 3/15/18 16 premarital screening in Saudi Arabia markedly reduced the number of at-risk marriages, which may considerably reduce the genetic disease . Now couples who are going to married should pass on this screening and it’s provided free in Accredited Premarital Screening Centers

17. 2.2.4- Premarital Screening  (PMS) Premarital Screening  Is a test in which couples that are going to get married are tested for genetic, infectious and blood transmitted diseases to prevent any risk of transmitting any disease to their children It’s done by taking blood sample from both of them                    3/15/18 17

18. What tests are done in Premarital Screening 3/15/18 18 N.B: father cannot pass the infection directly to the  baby but mother can gives her baby the infection during delivery

19. ِ EX of Diseases diagnosed by PMS: sickle-cell anemia 3/15/18 19

20. 2.2.5 - Preimplantation genetic diagnosis ( PGD ): (PGD) is a screening test used to determine if genetic or chromosomal disorders are present in embryos produced through in vitro fertilization (IVF). 3/15/18 20

21. Ovary stimulation oocyte retrieval sperm collecting preimplantation genetic diagnosis Transfer of the fetus Steps of PGD : 1- giving some hormones (FSH) as pills to stimulate ovary to produce high number of ovum 2- (ovum-pick up) Collecting ovum from uterus 3- Intracytoplasmic sperm injection (ICSI) sperm is injected into an egg to fertilization in vitro 5- transformation of the normal embryo after the screening inside the uterus *Description of each step is in the same color from the opposite site 1 2 3 4 5 4- screening of the chances of genetic defects within embryos 3/15/18 21

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23. 2.3- Vaccinating and supplementation Vaccinating : antigenic material to stimulate an individual's immune system ex ; ( Vaccines against rubella to prevent genetic defects in the fetus ) figure A Supplementation: Are medicines which given before and during pregnancy ex ; (folic acid to prevent of neural tube defect in newborn) figure B,C a b c 3/15/18 23

24. 3- Teratology and teratogens Teratogen: Any agent that can disturb the development of an embryo or fetus (cause a birth defect ). About 4 to 5 percent of birth defects are caused by exposure to a teratogen. Teratology: ⁃ Teratology is the science that studies birth defects , the causes, mechanisms, and patterns of abnormal development. and its goals are: (1) to describe and determine etiology ( علم أسباب الأمراض ). (2) to explore mechanisms involved in the production of birth defects. (3) to devise means of prevention  .

25. 3.1-What is the harmful teratogen ?

26. 3.2-The effect of Teratogen Teratogens may be do their effect and cause these results:   • mutations • chromosomal abnormality • disturbances in cell division • changes in nucleic acid composition and protein synthesis • reduction of energy supply for embryonic and foetal development • disturbances of enzyme systems • disturbances in the regulation of water and electrolyte balance • changes in membrane characteristics

27. 3.2-The effect of Teratogen

28. They should also use caution when taking certain medications. Some medications that are normally safe can cause serious birth defects . . pregnant should start taking folic acid supplements before conception To prevent defects of the spine and brain defects . drug groups may cause birth defects in a developing fetus; some antibiotic ,high doses of vitamin A,, ACE (angiotensin converting enzyme) inhibitors Many birth defects can’t be prevented, but there are some ways to lower the risk of having a baby with a birth defect: 4-Maternal health during pregnancy

29. Exercise: Moderate exercise is not only considered safe for pregnant women, it’s encouraged and thought to benefit both mom and growing baby Nutrition: Eating a nutritious diet during pregnancy is linked to good fetal brain development, , and it reduces the risk of many birth defects. Maintaining a healthy weight also helps reduce the risk of complications during pregnancy. 4-Maternal health during pregnancy

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