Genetic Risk Evaluation Before Attempting to Conceive With Fertility T…

Genetic Risk Evaluation Before Attempting to Conceive With Fertility T…




Fertility treatment is a rare opportunity to detect and prevent the transmission of genetic diseases to future children. In addition to genetic screening, embryo testing can be performed during in vitro fertilization-IVF to detect those that do not carry the disease and exclude unhealthy ones. This course of action is called PGD-preimplantation genetic diagnosis. Genetic concerns arise because of prior genetic or family histories or encountered during routine screening prior to fertility treatments. As technology advances, the main challenge remains identification of carriers of genetic diseases employing thorough history and screening tests by a reproductive endocrinologist and possibly genetic counseling. Be prepared, you and your partner, to tell your reproductive endocrinologist about disease history of you and other family members.

GINA-The Genetic Information Nondiscrimination Act of 2008 that took complete effect in 2010, prohibits the discrimination in health coverage or employment based on genetic information

Genetic screening, who is at risk?

Routine genetic screening for each individual or associate desiring pregnancy. Screening is based on shared genetic issues based on ancestry-ethnic group. Initially only one partner need to be screened and if the test is positive the other partner needs to be screened.

Everybody should be screened for Cystic fibrosis-CF and possibly Spinal muscular atrophy-SMA1.

Ashkenazi jewish ancestry should be screened to Canavan disease, CF, Tay Sch disease, familial dysautonomia. Some extend this screening to Fanconi Anemia, Bloom,Gaucher, Neiman Pick, Mucolipoidosis IV, Glycogen storage disease Ia, Maple serup urine disease and familial hyperinsulinism, Nemaline myopathy, DLD defeciency, Joubert and Usher syndromes.

Sephardic jewish ancestry should be screened for CF and Tay Sach disease. Some add Familial Mediterranean Fever, Ataxia Telangiectasia, Fanconi anemia, 11B hydroxylase defeciency, glycogen storage disease IIIa, Factor VII defeciency and other diseases.

French Canadian ancestry should be screened to Tay Sach’s disease

Mediterranean ancestry (Greek, italian, arabic..) Should be screened for Thalassemia B,

Asian descent (Japanese, pakistani, chinese..) Thalassemia a,

African Americans should be screened for Sickle cell disease

reduced ovarian save. Screening of young women with reduced ovarian save should be considered for Fragile X syndrome pre-mutation and also for Chromosomal abnormalities e.g. things considered together as a pattern Turner syndrome, using a karyotype-a test to detect the number and shape of chromosomes.

Male factor infertility. Men with very low counts less than 5 to million per mL or with no sperm in the ejaculate should be screened for CF and its variants, Kleinfelter syndrome and microdeletions of Y chromosome.

Recurrent pregnancy loss. Sometimes in associate reporting two or more losses especially early in the first trimester, one partner may carry a hidden chromosomal abnormality. One chromosome is carried on top of another, they are transmitted to the baby together increasing the risk that the newborn would have an additional chromosome-trisomy.

One parent, a prior child or family member affected with a genetic disease. If the disease is well defined, the affected individual should be tested first for the exact alteration of the DNA causing the disease-the mutation. The associate are then tested for the same mutation.

One parent or a child affected with chromosomal abnormalities. If a prior baby carried a chromosomal abnormality, both patent karyotype should be obtained to exclude that one of them carry an abnormality and to prevent its recurrence to future babies.

One parent or family members carrying an inherited predisposition to cancer. Some individuals carry an inherited predisposition for cancer due to inheriting certain mutations. Commonly multiple family members across several generations were diagnosed with specific cancers at an earlier age e.g.




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