REVIEWER NI VINACE

CHAPTER 7

Infertility is a term used to describe the inability to conceive a child or sustain a

pregnancy to birth

Subfertility is a delay in conceiving.

Sterility is the inability to conceive because of a known condition, such as the absence of a
uterus.

spermatogenesis (production of sperm cells)

sperm count is the number of sperm in a single ejaculation or in a milliliter of

semen.

cryptorchidism (undescended testes)

sperm motility (movement of sperm)

right way to do a semen sample

● Abstain from intercourse or masturbation for about 3 days.

● Use a clean, dry plastic or glass container with a secure lid to collect the sample.
● Collect the specimen as close as possible to your usual time of sexual activity.
● Avoid using any lubricants before you collect the specimen.
● After you’ve collected the specimen in the container, close it securely and write down
the time you collected it.
● Take the specimen to the laboratory or healthcare provider’s office immediately so it
can be analyzed within 1 hour of collection.
● Keep the specimen at body temperature while transporting it. Carrying it next to your
chest is one way to do this.

mumps orchitis testicular inflammation

hypospadias (urethral opening on the ventral surface of the penis)

epispadias (urethral opening on the dorsal surface)

Peyronie disease (a bent penis)

Erectile dysfunction or the inability to achieve an erection (formerly called impotence)

Premature ejaculation (ejaculation before penetration)

Anovulation (absence of ovulation or release of ova from the ovary)

Pelvic inflammatory disease (PID) is infection of the pelvic organs: the uterus,
fallopian tubes, ovaries, and their supporting structures

sonohysterosalpingogram is a sonographic examination of the fallopian tubes and uterus

using an ultrasound contrast agent introduced into the uterus

hysterosalpingogram is similar to a sonohysterosalpingogram except a radiopaque contrast

medium is used and the fallopian tubes are revealed by X-ray.

Endometriosis refers to the implantation of uterine endometrium

Hysteroscopy is visual inspection of the uterus through the insertion of a hysteroscope (a thin
hollow tube) through the vagina, cervix, and into the uterus.

Laparoscopy is the introduction of a thin, hollow, lighted tube (a fiber optic telescope or
laparoscope) through a small incision in the abdomen

Surrogate embryo transfer is an assisted reproductive technique for a woman who does not
produce ova.

gamete intrafallopian transfer (GIFT) procedures, ova are obtained from ovaries
exactly as in IVF.

surrogate mother is a woman who agrees to carry a pregnancy to term for a subfertile
couple or an LGBT couple

Adoption is an alternative for subfertile and LGBT couples

CHAPTER 8

Genetics is the study of the way such disorders occur.

Chromosomes are threadlike structures of nucleic acids and protein found in

the nucleus of most living cells, carrying genetic information in the form of genes

karyotype a graphic representation of the chromosomes present

genetic disorders are disorders that can be passed from one generation to
the next
Cytogenetics is the study of chromosomes by light microscopy and the method by which
chromosomal aberrations are identified.

Genes are the basic units of heredity

two like genes (alleles)

phenotype refers to his or her outward appearance or the expression of

genes.

genotype refers to his or her actual gene composition.

(one from the mother and one from the father)—is said to be homozygous

(a healthy gene from the mother and an unhealthy gene from the father, or
vice versa), the person is said to be heterozygous

Alternative insemination by donor (AID) is an option for couples if the genetic

disorder is one inherited by the male partner or is a recessively inherited disorder carried by
both partners

trisomy 13 syndrome (Patau syndrome), the child has an extra chromosome 13 and is
severely cognitively challenged.

trisomy 18 syndrome (Edwards syndrome) have three copies of

chromosome 18.

Cri-du-chat syndrome is the result of a missing portion of chromosome 5.

Turner syndrome (gonadal dysgenesis) has only one functional X

chromosome.

Klinefelter syndrome are males with an extra X chromosome.

Fragile X syndrome is the most common cause of cognitive challenge in males

Trisomy 21 (Down Syndrome), the most frequently occurring chromosomal disorder

POSSIBLE QUESTIONS WITH ANSWERS

infertility
inability to conceive a child or sustain a pregnancy to birth

infertile couple
one who has not become pregnant after at least 1 year of unprotected coitus

subfertility
term used rather than infertility today because it denotes that couple has a potential to conceive

affects 11 - 14% wanting to conceive

Primary subfertility
no previous conceptions

In vitro fertilization
The union of sperm and ovum under laboratory conditions

Secondary subfertility
previous pregnancies occurred; however, couple is not able to presently conceive

Sterility
Is the inability to conceive because of a known condition, such as the absence of a uterus

Fertility assessment
Health history
Physical assessment
Fertility testing

Limited sperm count

Any condition that significantly increases body temp such as chronic infection from tuberculosis
or recurrent sinusitis has the potential to raise scrotal heat enough to lower a sperm count

Testing for spermicides number and availability

Analysis of pituitary hormones (FSH, LH)
Semen analysis
Sperm penetration assay and antisperm antibody testing

Anovulation
Absence of ovulation or release of ova from the ovary

Cytogenetics
study of chromosomes by light microscopy

How many newborns inherit a genetic disorder

1 out of 20

What percent of pediatric admissions may be for genetic influenced disorders

70

Genes
basic units of heredity that determne both physical and cognitive characteristics of people

Chromosomes
composed of DNA woven into strands in the nucleus of all body cells

Genome
the compelete set of genes present (50000-100000)

homozygous
characterized by having two corresponding genes that are identical a person who has two like
genes for a trait, two healthy genes from example

Heterozygous
if the genes differ, a healthy gene from the mother and an unhealthy gene from the father, or
vice versa, for example

Dominant genes
a characteristic that is apparent even when the gene is inherited from only one parent.
huntington disease in an example

Recessive genes
occurs when both parents have recessive genes for the disease. cystic Fibrosis is an example

Multifactorial (polygenic) inheritance

appear to occu from multiple gene combinations. Type 1 diabetes, heart disease, pyoric
stenosis, cleft lip and palate, neural tube disorders, HTN, and mental illness

Mitochondrial inheritance
male carriers cannot pass a disorder carried in the mitochondria to any of their children. Female
carriers will pass mitochondria disorders to 100% of their children

Imprinting
refers to the differential expression of genetic material and allows researchers to identify if the
chromosomal material has come from the male or female parent

Nondisjunction disorders
disorders that occur in the chromosomal division is uneven

Deletion disorders
part of the chromosome breaks during cell division
Mosaicism
the presnece of two or more populations of cells within one person; some with a normal set of
chromosomes and others with extra or missing chromosomes

Isochromosomes
a chromosome accidentally divides by a horizontal separation instead of a vertical separation,
resulting in a new chromosome with mismatched long and short arms

Karyotyping
sample of venous blood or scraping of buccal membrane cells

Maternal serum screening (MSAFP)

a glycoprotein produced by the fetal liver (down syndrome test)

Chorionic villi sampling

retrieval and analysis taken from the placenta

Amniocentesis
withdrawal of amniotic fluid thru the abdominal wall for analysis

Percutaneous umbilical blood sampling

removal of blood from the fetal umbilical cord @17 weeks using amniocentesis method

Fetal imaging
MRI and U/S to assess fetus for size and structural disorders of internal organs spine and limbs

Fetoscopy
visually inspect fetus for gross disorders using a fiber optic fetoscope via a small incision on
moms abdomen into the uterus

Preimplantation diagnosis
both sperm and ova are assessed for DNA before implantation in the uterus or tubes, possible
for IVF procedures