Maternity Overview & the Preconception Period

Autosomal-recessive disorder

One defective gene carry the disorder and can pass it on to a child but do not have it themselves

What are examples of autosomal-recessive disorder?

1. cystic fibrosis

2. sickle call anemia

3. thalassemia

4. Tay-Sachs disease

Autosomal-dominant disorder

When one or both parent’s genes carry the defect

What are examples of autosomal-dominant disorders?

1. Huntington’s Disease

2. family history of hypercholesterolemia

3. xeroderma pigmentation

What is carrier testing?

genetic testing that identify individuals who carry one copy of a gene mutation when there is family history of a genetic disorder

What is preimplantation testing?

genetic testing that identifies genetic changes in embryos conceived through IVF

What is prenatal testing?

Tests that can identify genetic disorders early on, such as Downs Syndrome, hemophilia, and Tay-Sachs disease

What is unique about X-linked inheritance?

the mutated gene can only be located on the X chromosome and men who inherit that mutated X chromosome will present with the trait

What is an example of an X linked disorder?

hemophilia

What is unique with Y-linked inheritance?

The mutation is located only in the Y chromosome and the disease can be passed from father to son

What is newborn screening?

tests that detect genetic disorders that can be treated early on in life

Who are at a higher risk for conceiving a child with a genetic disorder?

1. women older than 35

2. history of pregnancy that resulted in genetic disorder

3. one or both parents having a genetic disorder

4. family history of genetic disorder

What should a pregnant woman avoid doing to avoid toxoplasma?

• avoid contact with cat feces

• avoid eating rare beef or lab

What is a teratogen?

drug, viruses, or infections that could cause fetal defects

When is a baby most vulnerable to the effects of teratogens?

first 8 weeks of gestation

What are some examples of teratogens?

1. alcohol and face drugs

2. ACE inhibitors

3. warfarin

4. chicken pox

5. rubella

6. syphilis

7. toxoplasmosis

8. zika

What is the difference between the ovarian cycle and the endometrial cycle?

the ovarian cycle = maturation of ovum

the endometrial cycle = change in endometrium

What are the three steps of the ovarian cycle and which hormones play a role in each?

1. follicular phase, FSH and LH from anterior pituitary causes follicle to mature → maturing follicle releases estrogen

2. ovulatory phase, begins when estrogen peaks then decreases when LH and progesterone surges, then follicle releases egg

3. luteal phase → follicle forms into corpus luteum and releases progesterone and estrogen

what are the phases of the endometrial cycle and which hormones play a role in each?

1. proliferative phase, estrogen makes the endometrium thicken and become more vascular

2. secretory phase, progesterone makes endometrium further thicken. if pregnant → begins to secrete glycogen. if not → degrades

3. menstrual phase

What is oogenesis?

the formation of a mature egg (ovum)

What is ovulation?

the release of an oocyte

What hormones control oogenesis and what are their roles?

FSH stimulates the follicle to grow and secrete estrogen

Estrogen promotes maturation of ovum

What is the difference between meiosis and mitosis?

Meiosis creates haploids (contains half the number of chromosomes)

Mitosis creates diploid daughter cells (full amount of chromosomes)

What hormones play a role in spermatogenesis?

1. FSH stims spem production

2. LH stims testosterone production

3. Testosterone stims the maturation of sperm

Where does fertilization usually occur?

ampulla

What is a fertilized oocyte called and how many chromosomes are there?

a zygote and 46 chromosomes (diploid)