NCM 107 Procreative Health

Procreation

Refers to the sexual act of bearing an offspring

• Woman's age

• Family history of genetic disorders

• Birth defect in a previous baby

• Previous miscarriages

• Chromosomal abnormality in a prospective parent

Factors that increase the risk of genetic disorders

• Liberation of an ovum/egg

• Internal fertilization of the ovum

• Transport of the fertilized ovum

• Implantation of the blastocyst

• Formation of a placenta

• Birth of the Child

• Suckling and care of the child

Human Reproduction Stages

Creation

A belief that the universe and the various forms of

life were created by God out of nothing (Encyclopedia

Britannica, 2019), and they reproduce thorough sexual

intercourse

Evolution

Humans evolved over the years through natural occurrences

and from the growth and development of monkeys and

other creatures

Charles Darwin

a British naturalist who proposed the

theory of biological evolution by natural selection

descent with modification

He defined evolution as _______________ the idea

that species change over time, give rise to new species, and

share a common ancestor

Genetic screening

To determine whether a couple is at

increased risk of having a baby with

a hereditary genetic disorders

theory of biological evolution by natural selection

Charles Darwin was a British naturalist who proposed the

One or both partners know they have a genetic abnormality
Family members have a genetic abnormality
Partners belong to a high-risk ethnic group

Genetic Screening

Recommended when:

assessing the couple's family history
analysis of blood or tissue samples

Genetic Screening

Involves:

Intermarriages

Ethnic Background

Cause of death of family members

Health of all living first and second degree relatives

Family History Assessment

Sickle-cell disease

Ethnic group at risk: African, African American, or Mediterranean heritage

• Crescent-shaped RBC

Tay-Sachs disease

Ethnic group at risk: Ashkenazi (eastern and central European) Jewish or French Canadian ancestry

• destruction of nerve cells in the brain and spinal cord

Dominant and Recessive Traits

• inheritant patterns of certain traits

• Color of hair, eyes

• Describes how likely it is for a certain phenotype to pass from parent offspring
  

Recessive Trait

• carried in the persons gene without
  appearing in that person.

• only expressed when an
  individual inherits two copies of it, one from each parent.

Dominant Trait

• appears in the person

• will always be expressed, even if
  only one copy is present.

Alleles

two copies of gene

Phenotype

set of obervable characteristics of an individual

Carriers

Have an abnormal gene for a disorder but do not have any symptoms

Sex-linked traits

Genetic characteristics determined by genes located on sex chromosomes

• Hemophelia

• Color blindess

• Duchenne muscular dystrophy

• Fragile X syndrome

X-linked recessive disorders

Male infertility

Y-linked recessive traits

Sex-linked diseases

are passed down through families through one of the X or Y (Sex) chromosomes

Dominant Inheritance

an abnormal gene from one parent causes disease, even though the matching gene from the other parent is normal.

Recessive inheritance

Both matching genes must be abnormal to cause disease
If only one gene in the pair is abnormal, the disease does not occur or it is mild

Thalassemia

Inadequate hemoglobin

cystic fibrosis

disease of the secretory glands

Amniotomy

also known as artificial rupture of membranes (AROM) and by the lay description "breaking the water,
" is the intentional rupture of the amniotic sac by an obstetrical provider

Amniotomy

• Under the guidance of an ultrasound, a sterile needle is iinserted through the abdominal wall into the amniotic sac

• the amniotic fluid is withdrawn in the needle

• amniotic fluid has fetal cells that are separated from the amniotic fluid

• cultured

• tests were performed

  • Chemical analysis

  • DNA analysis

  • Chromosomal analysis

• treatment of the fetus

• termination of the pregnancy

If the fetus has the disorder

Karyotype

picture of a person's chromosomes. Isolated,
stained, and examined under a microscope. The picture is cut up and aranged from largest to smalest.

Autosomes

first 22 chromosomes

sex chromosomes

23rd chromosome

Trisomy 13

• presence of a third copy of chromosome 13 in some or all of the body's cells.

• Holoprosencephaly

• Microcephaly

• small or absent eyes

• cleft lip/palate

• low-set ears

• intellectual and developmental disabilities

Patau Syndrome

Trisomy 13 or…?

Trisomy 18

• presence of a third copy of chromosome 18.

• The condition is often diagnosed during pregnancy, and the prognosis for babies with Trisomy 18 is very poor.

• Low birth weight

• Microcephaly

• low-set ears

• prominent occiput and heels

• clenched fists

• malformations of lungs, kidneys, digestive tract

• intellectual and developmental disabilities

Cri-du-Chat

• Result of missing portion of chromosome 5

• Abnormal crying (high pitched)

• Small head

• wide eyes

• Downward slant to the palpebral fissure of the eye

Turner Syndrome

• Gonodal dysgenesis

• 45XO

• Has only 1 functional chromosome

• Short stature

• low-set hairline

• edema

• neck are webbed and short

• a common genetic condition that affects males, caused by the presence
  of an extra X chromosome.

• Tall stature

• Gynecomastia

• Small, firm testes

• female type pubic hair

• the most common inherited cause of intellectual disability. It is a genetic condition caused by a mutation on the FMR1 gene

• Developmental delays, learning
  disabilities, and intellectual disability.

• features of autism
  spectrum disorder

• ADHD

• Long, narrow face

• flexible joints

• enlarged testicles

Down Syndrome

• Trisomy 21

• Pregnancy of women over 35 years of age

• Nose is broad and flat

• neck is short

• eyelids have extra fold of tissue

• back of the head is flat

• low-set ears

40-50 years

life-span of persons with down syndrome