Exam 1, Week 1: Genetics, Family Planning, Preconception, and Menstrual Cycle

What are screenings tests?

non-invasive tests that assess the risk of genetic conditions, but do NOT provide a diagnoses

What are first trimester screening tests?

combines blood tests to measure plasma protein A and human chorionic gonadotropin with an ultrasound of the babies neck

What are second trimester screening tests?

a quad screen that measures 4 substances in the blood: alpha-feto, hCG, estriol and inhibin-A

What is cell free DNA testing?

a non-invasive test to analyze the fetal DNA and chromosome abnormalities

What are diagnostic tests?

invasive tests that CAN provide a definitive genetic diagnoses but carry small risks

What is chorionic villus sampling (CVS)?

a sample of the placenta is removed and tested for genetic analysis

What is an amniocentesis?

the sampling of amniotic fluid with fetal cells for genetic testing

What is a carrier screening?

it tests the parents for specific genetic conditions

What is preimplantation genetic testing?

It tests the embryos before transfer for those using IVF

What is a genotype?

the complete set of genetic information (DNA sequence) that represents the genetic makeup... the combo of alleles

What is a phenotype?

observable/physical characteristics or traits of an organism (ex: eye color, hair, height, skin color, blood type, etc.)

What is aneuploidy?

when there is an abnormal number of chromosomes in a cell, extra or missing

What is trisomy?

having 3 copies of a chromosome instead of 2 (ex: Down syndrome)

What is monosomy?

having only one copy of a chromosome (ex: Turners)

What is nullisomy?

complete absence of both chromosomes in a pair... incompatible with life

How does aneuploidy occur?

chromosomal nondisjunction in meiosis... failure to separate properly

Trisome 21 is

Down syndrome

Trisomy 18 is

Edwards syndrome

Trisomy 13 is

Patau syndrome

What are sex-linked disorders?

genetic conditions caused by mutations on the sex chromosomes, particularly the X chromosome so males are more likely to show whereas females have two x's so can cover it up

Common sex-linked disorders are

hemophilia, color blindness, Duchenne muscular dystrophy, fragile X, etc.

What is phenylketonuria?

inability to break down the amino acid phenylalanine, leading to intellectual disability

Who is more affected by X-linked disorders and why

males, they only have one X chromosome

inheritance pattern: autosomal dominant inherited disorders only require

one copy of the mutated gene to cause the condition

inheritance pattern: recessive disorders

both parents must be carriers for their child to have a 25% chance of affected, 25% chance unaffected and 50% chance for being a carrier.... You need two copies to show the trait and one copy to be a carrier

What are the 4 phases of the menstrual cycle

menstruation, follicular phase, ovulation, luteal phase

What is the menstrual phase?

Shedding of the endometrial lining.

What is the follicular phase?

The follicle develops, and the estrogen levels rise and the endometrium thickens

What is the ovulation phase?

release of mature egg into fallopian tube

What is the luteal phase?

corpus luteum forms and progesterone rises... if no pregnancy it degenerates

GnRH (gonadotropin-releasing hormone)

stimulates pituitary hormone release

FSH (follicle stimulating hormone)

stimulates follicle development

LH (luteinizing hormone)

triggers ovulation

estrogen

proliferates (thickens) endometrium

Progesterone

maintains the endometrium, prepares the uterus for potential implantation

red flags to report for your menstrual cycle

heavy bleeding >80 ml, severe pain, absence of periods, cycles

What is family planning?

the ability of individuals and couples to anticipate and attain their desired number of children and the spacing and timing of their births

most effective contraceptives

IUDS, implants, or sterilization

highly effective contraceptives

pills, patch, ring, injection

least effect contraceptives

condoms, diaphragm, spermicides

long acting reversible contraceptives

Intrauterine Devices, Copper IUDs, which are toxic to sperm, and Hormonal IUDs

emergency contraceptives

Plan B, Ella, Copper IUD

GTPAL

Gravida, Term, Preterm, Abortions, Living

what are the warning signs for hormonal contraceptives (ACHES)

Abdominal pain

Chest pain

Headaches

Eye problems

Severe leg pain

In postpartum women, fertility can return as early as

3 weeks

What are the mechanisms for hormonal contraceptive methods?

suppress ovulation, thicken the cervical mucus, block sperm entry, and thin lining

Combines oral contraceptives (COCs) vs Progestin-Only Pills (POPs)

COCs contain estrogen and progestin while POPS only have progestin

medical history includes

current conditions and medications, immunization status, prior surgeries, mental health history, etc.

What are teratogenic medications?

any drug that has the potential to cause birth defects or developmental abnormalities in an embryo or fetus when taken during pregnancy, timing is critical (3-8 weeks)

effects of teratogenic medications include

growth restrictions, functional defects, fetal death, developmental delays, etc.

examples of teratogenic meds include

Accutane, warfarin, ACE/ARBs, lithium, tetracyclines, etc.

MMR vaccine

measles, mumps, rubella

must be given at least 1 month before conception, can NOT be given during pregnancy as its a live vaccine

varicella vaccine

chickenpox

cannot be given during pregnancy as it's a live vaccine

What does TORCH stand for?

Toxoplasmosis

Other (syphilis, Zika, varicella)

Rubella

Cytomegalovirus

Herpes simplex

what is TORCH?

An acronym for a group of infections that cause serious complications and adverse fetal outcomes in pregnancy

Tdap vaccine

Tetanus, Diphtheria, Pertussis... can be given during pregnancy but ideally before, important for protection from pertussis,

Influenza

annual flu shot, can be given before or during pregnancy but the inactive vaccine only (no nasal spray)

COVID-19

can be given before or during pregnancy

Hep B and C

safe during pregnancy but ideal to complete before

Uterine Surgery Examples and their considerations

Ex: c-section, myomectomy, ablation, etc.

Consider: uterine scar integrity, waiting period before conception

Cervical Surgery Examples and their considerations

Ex: LEEP, cerclage, cone biopsies

Consider: cervical competence, increased risk of preterm labor

Fallopian Tube Surgery Examples and their Considerations

Ex: Tubal ligation, reconstruction, ectopic surgery

Consider: fertility potential, risk of repeat ectopic

What is an ectopic pregnancy?

Tubal pregnancy occurs when a fertilized egg develops outside the uterus

Ovarian Surgery Examples and their considerations

Ex: cystectomy, oophorectomy, endometriosis excision

Consider: ovarian reserve and hormone function

Abdominal/Pelvic Surgery Examples and their considerations

Ex: appendectomy, adhesion, trauma repair

Consider: adhesions, potential complications

Bariatric (weight loss) Surgery Examples and their considerations

Ex: bypass, banding, sleeve gastrectomy

Consider: nutritional status, absorption issues

Cardiac Surgery Examples and their Considerations

Ex: valve and defect repairs

Consider: cardiac function, anticoagulation needs

Thyroid Surgery Examples and their Considerations

Ex: total or partial thyroidectomy

Consider: thyroid hormone replacement, monitoring needs

Endocrine Disorders include

Diabetes/Pregestational, Thyroid disorders, PCOS

Cardiovascular Conditions include

hypertension, arrhythmias, DVT/PE, heart defects

Respiratory Condition Examples and their focuses

Ex: asthma, cystic fibrosis, sleep apnea

Focus on: medication, oxygen requirements, triggers, etc.

Mental Health Condition Examples and their considerations

Ex; depression, anxiety, bipolar, schizophrenia

consider: increased perinatal mood and anxiety disorders

Gastrointestinal Condition Examples and their considers

Ex: IBS, celiac disease, chronic liver conditions

consider: nutritional status, medications, and disease activity

Neurological Condition Examples and their focuses

Ex: Epilepsy, Migraines, MS

Focus on: seizure control, medication safety, neurological monitoring

Hematologic Condition Examples and Managment

Ex: Sickle cell, thalassemia, clotting disorders

Manage: anemia, clotting risks, counseling needs

Autoimmune Disorder Examples and their Considerations

Ex: Lupus, RA, MS

Considerations: disease flares, medications, complication risk

Examples of common recessive disorders

Cystic fibrosis, PKU, sickle cell, muscular atrophy

Examples of common dominant disorders

Huntington's