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| While the vast majority of babies are born healthy, approximately 2-3% of all babies are born with some type of birth defect or genetic condition. Genetic counseling is the process of providing individuals and families with information and support on the nature, inheritance and implications of genetic and related conditions. Genetic counseling offers tests to assess the risks for passing on various genetic diseases. |
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| Those benefitting from genetic counseling would be women who are age 35 or older, couples with recurrent miscarriages, individuals with family histories of birth defects and/or genetic conditions, patients planning fertility treatments such as intrauterine inseminations (IUI), in vitro fertilization ( IVF) and pre-implantation genetic diagnosis (PGD). Couples with male factor infertility, patients with questions regarding genetic screening or gender selection, prospective egg donors and directed semen donors, as well as newly pregnant patients who are over age 35 or who have questions regarding prenatal testing options, would also benefit. |
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| | Using PGD, healthy, chromosomally normal embryos can now be distinguished from nonviable and diseased ones. This is particularly helpful for women over 35, since chromosomal problems account for a large percentage of miscarriages and infertility in these women. This is chiefly due to the fact that as a woman ages, her eggs decrease in both number and quality .Consequently, over time, a couple's chances of becoming pregnant with a healthy baby decrease, and the rate of miscarriage climbs. In fact, if a healthy 40 year-old woman in excellent health does conceive, her chances of having a chromosomally abnormal embryo are over 50% without PGD, resulting in infertility, inevitable miscarriage, or fetal abnormality. |
| | Traditionally, the overall appearance of embryos conceived by IVF have been assessed microscopically to predict their chances of implanting. According to Dr. Michael Doyle pre-implantation genetic diagnosis (PGD) takes fertility treatment to a new level. By screening the genetic information contained within the embryo prior to deciding which embryos to transfer, genetically normal embryos can be selected and transferred back to the patient. "These pre-screened embryos are much more likely to implant", explains Dr. Doyle,"and when they do, the chance of a problem is much lower." |
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| James W. Speer, MS, Certified Genetic Counselor on staff at Connecticut Fertility Associates believes that the optimal time to perform genetic testing is before a couple begins trying to conceive. With a specialized graduate degree in the areas of medical genetics and counseling, Mr. Speer meets with patients and determines which genetic conditions are the most appropriate screening options based on family history and ethnicity. |
| Mr. Speer has found that, "Most of the genetic screening tests are for conditions which are inherited in an autosomal recessive manner, which means that both parents would need to be carriers in order to have an affected child. It is common for the female partner to be tested initially, and if she is found to be a carrier for a particular genetic condition, it is recommended that the male partner consider testing. If both members of the couple are carriers for the same genetic condition, I review the implications of these results, and discuss appropriate testing options." |
| Some of these options include preimplantation genetic diagnosis (PGD) and prenatal diagnosis. Testing during pregnancy may involve chorionic villus sampling (CVS), usually done between 10 and 12 weeks of pregnancy, or amniocentesis which is typically performed between 16 and 18 weeks of pregnancy. |
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| Screening for the following genetic disorders are available: Cystic Fibrosis, Sickle Cell Disease, Alpha Thalassemia, Beta Thalassemia Fragile X Syndrome, and for conditions with increased frequency in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, Familial Dysautonomia, Fanconi Anemia group C, Bloom syndrome, Gaucher disease, Niemann-Pick disease type A, Glycogen storage disease type 1A , Maple syrup urine disease, and Mucolipidosis type IV. |
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| Mr. Speer is available for consultations on Tuesdays and Fridays at Connecticut Fertility Associates' Bridgeport office. |
