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amniocentesis
test that evaluates the amniotic fluid surrounding the fetus
aneuploidy
abnormal number of chromosomes
anovulation
complete absence of ovulation
antral follicle
small ovarian follicle that can be seen and counted on transvaginal ultrasound
autosomal dominant
type of inheritance that occurs when only one copy of the dominant allele is needed to express the trait
autosomal recessive
type of inheritance that requires the presence of both recessive alleles for the trait to be expressed
autosome
body chromosome
azoospermia
complete absence of sperm cells
chromosome
contains thousands of genes, which make up the basic unit of heredity and are composed of proteins and DNA
cryopreservation
freezing of embryos after in vitro fertilization for later use
diploid
cell containing two sets of chromosomes, such as the body cells
fallopian tube
small tube that allows the passage of the egg from the ovary to the uterus
fertility
person’s ability to become pregnant
fertilization
penetration of an ovum by a single sperm cell
gamete intrafallopian transfer (GIFT)
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
gonadotoxin
chemical or substance that can affect the production of sperm or ova
haploid
cell containing one set of chromosomes, such as the gametes
hysterosalpingography
infusion of radioactive dye through a small catheter in the cervix and into the uterus and fallopian tubes.
in vitro fertilization (IVF)
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
infertility
inability to become pregnant after 1 year of regular sexual intercourse without using any form of birth control
intrauterine insemination (IUI)
medical procedure performed by medical providers or specially trained nurses, in which specially washed sperm cells are injected through a catheter into the uterus
karyotype
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
laparoscopy
minimally invasive surgical procedure that allows direct observation of the uterus and other pelvic structures
meiotic
occurring by the process of meiosis, when a parent cell divides to produce two daughter cells, each with only one set of chromosomes
mitotic
occurring by the process of mitosis, when a single parent cell divides to produce two daughter cells with the full set of parental chromosomes
multifactorial inheritance
controlled by multiple genes
newborn screen
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
nondisjunction
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
oligoovulation
pattern of irregular ovulation
oligospermia
low sperm count
ovarian reserve
number of immature eggs that remain in the ovary
ovulation
release of a mature egg
polyploidy
abnormal number of chromosome sets
prenatal screening
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
primary infertility
lack of fertility in a person who has never been pregnant
primary ovarian insufficiency (POI)
ovarian failure before the age of 40
secondary infertility
lack of fertility in a person who has previously carried and delivered a pregnancy
semen analysis
simple test that evaluates the quantity and quality of sperm in a sample
sonohysterogram
in-office procedure that can be performed to evaluate the uterine lining and cavity
spermatogenesis
production of mature sperm cells
superovulation
development and maturation of several egg follicles
third party reproduction
use of a third party, usually a sperm donor, an egg donor, or a gestational carrier, in conjunction with an IVF cycle
unifactorial inheritance
controlled by single genes
varicocele
mass of varicose veins in the spermatic cord
vertical transmission
tendency of disorders to run in families across multiple generations
X-linked
type of inheritance in which genes carried on the X chromosome are passed down to the next generation
zygote
diploid cell that results from the joining of an egg and sperm
zygote intrafallopian transfer (ZIFT)
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
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