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amniocentesis
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test that evaluates the amniotic fluid surrounding the fetus
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aneuploidy
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abnormal number of chromosomes
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anovulation
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complete absence of ovulation
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antral follicle
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small ovarian follicle that can be seen and counted on transvaginal ultrasound
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autosomal dominant
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type of inheritance that occurs when only one copy of the dominant allele is needed to express the trait
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autosomal recessive
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type of inheritance that requires the presence of both recessive alleles for the trait to be expressed
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autosome
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body chromosome
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azoospermia
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complete absence of sperm cells
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chromosome
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contains thousands of genes, which make up the basic unit of heredity and are composed of proteins and DNA
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cryopreservation
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freezing of embryos after in vitro fertilization for later use
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diploid
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cell containing two sets of chromosomes, such as the body cells
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fallopian tube
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small tube that allows the passage of the egg from the ovary to the uterus
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fertility
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person’s ability to become pregnant
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fertilization
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penetration of an ovum by a single sperm cell
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gamete intrafallopian transfer (GIFT)
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procedure that includes ovulation induction and laparoscopic egg retrieval (performed through an incision in the abdomen instead of transvaginally), the mixing of retrieved eggs and sperm provided by the male partner, and the transfer of those gametes immediately into the fallopian tube for fertilization to occur inside the body
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gonadotoxin
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chemical or substance that can affect the production of sperm or ova
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haploid
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cell containing one set of chromosomes, such as the gametes
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hysterosalpingography
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infusion of radioactive dye through a small catheter in the cervix and into the uterus and fallopian tubes.
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in vitro fertilization (IVF)
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intense process that involves the stimulation of superovulation, the removal of eggs through surgical aspiration, fertilization in the lab, and transfer of resulting embryos back to the female patient
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infertility
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inability to become pregnant after 1 year of regular sexual intercourse without using any form of birth control
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intrauterine insemination (IUI)
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medical procedure performed by medical providers or specially trained nurses, in which specially washed sperm cells are injected through a catheter into the uterus
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karyotype
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simple blood test where the sample is treated with a special stain that allows the chromosomes to be visualized, sorted into their 23 matching pairs so that they can be identified and evaluated
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laparoscopy
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minimally invasive surgical procedure that allows direct observation of the uterus and other pelvic structures
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meiotic
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occurring by the process of meiosis, when a parent cell divides to produce two daughter cells, each with only one set of chromosomes
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mitotic
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occurring by the process of mitosis, when a single parent cell divides to produce two daughter cells with the full set of parental chromosomes
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multifactorial inheritance
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controlled by multiple genes
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newborn screen
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capillary blood test that occurs after birth; mandated by U.S. law but is run by each state and recommends testing for 31 core disorders and an additional secondary 26 disorders
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nondisjunction
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abnormal separation of chromosomes (or lack of separation) during mitosis or meiosis that results in an extra chromosome, or set of chromosomes, found in one daughter cell, with the other daughter cell missing chromosomes
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oligoovulation
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pattern of irregular ovulation
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oligospermia
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low sperm count
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ovarian reserve
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number of immature eggs that remain in the ovary
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ovulation
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release of a mature egg
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polyploidy
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abnormal number of chromosome sets
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prenatal screening
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series of tests that occur during pregnancy to determine the risk that the fetus has an aneuploidy, neural tube defect, or other abnormality suggestive of a genetic disorder
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primary infertility
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lack of fertility in a person who has never been pregnant
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primary ovarian insufficiency (POI)
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ovarian failure before the age of 40
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secondary infertility
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lack of fertility in a person who has previously carried and delivered a pregnancy
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semen analysis
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simple test that evaluates the quantity and quality of sperm in a sample
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sonohysterogram
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in-office procedure that can be performed to evaluate the uterine lining and cavity
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spermatogenesis
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production of mature sperm cells
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superovulation
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development and maturation of several egg follicles
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third party reproduction
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use of a third party, usually a sperm donor, an egg donor, or a gestational carrier, in conjunction with an IVF cycle
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unifactorial inheritance
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controlled by single genes
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varicocele
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mass of varicose veins in the spermatic cord
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vertical transmission
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tendency of disorders to run in families across multiple generations
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X-linked
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type of inheritance in which genes carried on the X chromosome are passed down to the next generation
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zygote
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diploid cell that results from the joining of an egg and sperm
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zygote intrafallopian transfer (ZIFT)
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procedure that starts as a traditional GIFT, but fertilization is allowed to occur in the laboratory; once the fertilized eggs have formed zygotes, they are transferred back into the fallopian tubes