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Genetic Testing for Inheritable Diseases, Recurrent Miscarriages

All healthy humans are born with 46 chromosomes that are part of every cell in the body. Chromosomes are divided into 22 matching pairs and one pair of sex chromosomes. These cell structures each carry the genetic material, or DNA, that makes every individual unique.

You receive genes from both of your biological parents; half from your mother and half from your father. The genes determine which features you inherit, such as hair and eye color, blood type, and other characteristics — like your father’s nose or your mother’s mouth.

Inheritable Diseases

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Estradiol Levels

Estradiol is a type of estrogen, the major sex hormone in women. It is secreted by the ovarian follicles. As the follicles grow and develop each month, they produce estradiol. This sets the rest of the reproductive cycle in motion.

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What Is a Fertility Consultation?

Dr. Brad Miller, a fertility doctor and founder of RMA Michigan, explains the tests that are involved during a fertility consultation.

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Why is it Important for the Male Partner to Have a Fertility Evaluation?

Dr. Natan Bar-Chama of RMA New York discusses the importance of males having a fertility work up. It is now known that when a couple has infertility problems, up to 30% is due to male factor infertility.

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Anti-Mullerian Hormone (AMH) Fertility Test

The AMH test (Anti-Mullerian Hormone) is a blood test to help the fertility doctor assess the woman's ovarian reserve. The test measures the levels of AMH in a woman's blood and is helpful in determining whether a woman has premature ovarian aging (diminished ovarian reserve) or premature ovarian failure.

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Infertility Causes

Dr. Tina Koopersmith from West Coast Women's Reproductive Center discusses the causes of infertility. It has been found that women are not solely to blame for infertility as 40% due to a male factor and 20% of the time there are multiple factors in both partners.

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Surgical Tests: Hysteroscopy and Laparoscopy

If blood tests and other diagnostic tests do not determine the cause of your infertility, your health care professional may suggest one or two surgical tests to try to diagnose or treat the problem. One test lets the doctor see inside the uterus and the other shows the outside of the uterus, the ovaries, and fallopian tubes.

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What Tests Are Included in The Fertility Workup?

Dr. Anate Brauer from Greenwich Fertility Center discusses what tests are involved in the fertility workup. The fertility workup checks your ovaries and eggs as well as your uterus and tubes. It is necessary that your ovaries are normal and healthy and that have a normal number of good quality eggs. In addition, the male also needs to have a fertility work up to check his sperm.

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Your Current and Future Fertility: AMH and Egg Freezing

Haven’t met the right partner, or not ready to have a baby on your own? Focused on your career right now? Just not ready to be a mom? Perfectly understandable. But if baby-making is on your future to-do list, and you could get information about your current fertility, or preserve your future fertility, wouldn’t it make sense to look into it? That’s where AMH testing – info on your current fertility, and egg freezing – preserving your future fertility, come in.

Why Ovarian Reserve Testing Is Misleading

A blog by Kara Nguyen, MD, MPH, RMA of Central Pennsylvania at PinnacleHealth, August 5, 2015
There is no one perfect test for ovarian reserve. There is no test that can tell a woman how many eggs she has left or if the egg she is releasing any given month is a healthy one. Several tests are used routinely as indirect measures of ovarian reserve but it is a misnomer to call them tests of “ovarian reserve” because these tests do not tell us the actual quantity of eggs available. Some common tests that your doctor may order include baseline FSH and estradiol levels, AMH, and preantral follicle counts.

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