Genetics and Prenatal Development Lecture Notes

Flashcards covering genetic concepts, chromosomal disorders, prenatal complications, and stages of childbirth based on lecture notes.

Genes

Made from DNA, these are recipes for proteins.

Mitosis

A process that makes an exact copy of the chromosomes.

Meiosis

A process that results in $4$ genetic differences.

Human Genome Project

A project that Indemnified $20,500$ genes.

Chromosome Structure

Consists of $46$ chromosomes ($23$ pairs), including $22$ pairs of autosomes and $1$ pair of sex chromosomes ($XY$ or $XX$).

Monozygotic (Identical)

Twins formed when one fertilized egg splits; they are genetically identical.

Dizygotic (Franteral)

Twins formed from two eggs fertilized by different sperm who share the same genetic materal as siblings.

Genotype

The sum total of all genes inherited.

Phenotype

The features that are actually expressed.

Homozygous

Inheriting the same version of a gene from both parents.

Heterozygous

Inheriting a different version of a gene from both parents.

Dominant

A gene that is expressed when paired with a different version.

Recessive

A gene that is expressed only when paired with a similar gene.

Polygenic

The results of several gens.

Incomplete Dominance

Occurs when a Dominment gene does not completely compress a recessive one.

Sickle Cell Disease

A condition with RBC that are sickled or shaped like a "c," occurring when the blood does not transport enough oxygen.

Fragile X Syndrome

A condition that causes the X chromosome to be more fragile.

cystic fibrosis

A genetic disorder that leads to the production of thick, sticky mucus that can clog the lungs and obstruct the pancreas.

• phenylketonuria*

A genetic disorder that leads to the buildup of phenylalanine in the body, which can cause intellectual disabilities and other health problems if untreated.

• Tay Sachs disease*

A genetic disorder that results in the destruction of nerve cells in the brain and spinal cord, typically occurring in infancy.

albinism

A genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes due to a deficiency in the enzyme tyrosinase.

• Huntington's disease*

A genetic disorder caused by a mutation in the HTT gene, leading to progressive neurodegeneration and motor dysfunction, typically manifesting in mid-adulthood.

• Tourette syndrome*

A neurodevelopmental disorder characterized by recurrent motor and vocal tics. It often begins in childhood and is associated with other psychiatric conditions.

achondroplasia

A genetic disorder resulting in short stature due to an abnormality in the FGFR3 gene, affecting bone growth.

hemophilia

A genetic disorder that impairs the body's ability to make blood clots due to mutations in clotting factor genes, leading to excessive bleeding.

• Duchenne muscular dystrophy*

A genetic disorder characterized by progressive muscle degeneration and weakness due to mutations in the dystrophin gene, primarily affecting boys.

Down Syndrome (Trisomy 21)

An Autosomal condition involving an extra chromosome 21.

Edward's Syndrome (Trisomy 18)

A chromosomal condition also known as trisomy 18.

Patau Syndrome (Trisomy 13)

A chromosomal condition also known as trisomy 13.

• turner syndrome

A genetic disorder affecting females characterized by the absence or structural alteration of one of the X chromosomes.

• Klinefelter syndrome

A genetic disorder affecting males, characterized by the presence of an extra X chromosome (47,XXY).

• genetic counseling*

A process that helps individuals understand and make informed decisions about inherited conditions and genetic disorders.

• behavioral genetics

the study of the interplay between genetics and behavior, examining how genetic factors influence individual differences in behavior and personality.

epigenetics

the study of changes in gene expression that do not involve changes to the underlying DNA sequence, often influenced by environmental factors.

• uterus anatomy

the structure and function of the uterus, including its layers (endometrium, myometrium, and perimetrium) and role in fetal development during pregnancy.

• natal development periods

the different stages of human development that occur before and after birth, which include prenatal, perinatal, and postnatal periods, each characterized by distinct biological processes and milestones.

ultrasound

a medical imaging technique that uses sound waves to visualize the developing fetus during pregnancy, allowing for assessment of growth and anatomical features.

• chorionic villus sampling

a prenatal test that involves taking a sample of tissue from the placenta to diagnose genetic conditions.

amniocentesis

a procedure used to extract amniotic fluid for testing, providing information about the genetic health of the fetus.

Teratogen Timing

These are most damaging during critical periods of development.

• fetal alcohol syndrome

A range of physical and developmental problems in a child resulting from maternal alcohol consumption during pregnancy.

Toxoplasmosis

A Parasite found in cat feces, undercooked meat, or contained water.

Maternal Age Factors (Over 35)

Associated with a higher risk of complications, though maturity can provide positive aspects.

Maternal Age Factors (Teenage)

Associated with a higher risk for both the mother and baby.

Gestational Diabetes

Affects $7\%$ of pregnancies; risks include premature birth, stillbirth, and breathing problems.

Gestational Diabetes Risk Factors

Includes age greater than $25$, obesity, and family history.

Rh Disease

Happens when a Rh-negative mother carries a Ph positive baby; maternal antibodies attack fetal rbs, causing anemia or jaundice.

Hypertension

Occurs in $8\%$ of pregnancies (gestational or chromic) and can lead to premature birth, low birthweight, and placental abruption.

Maternal Depression

Affects $1$ in $7$ pregnant women; high stress is linked to premature birth and development issues.

• calories per day to aid growth of fetus

A pregnant woman needs an additional 300 to 500 calories per day to support the growth and development of the fetus.

Minor Pregnancy Complications

Includes nausea, heartburn, gas, backache, leg cramps, and insomnia.

Ectopic Pregnancy

Occurs when a zygote implants in the fallopian tube instead of the uterus.

Preeclampsia (Toxemia)

Characterized by hypertension, protein in urine, and swelling.

Spontaneous Abortion

Loss of $10\%$ of pregnancies before the $12\text{ week}$.

Stages of Childbirth

1. Contraction, 2. Pass through the canal, 3. Placenta.

Braxton Hicks

False labor contractions that are helped by walking.

Timing of Contractions

The rule involves $5$ contractions that are $1\text{ min.}$ apart for $1\text{ hour}$..

episiotomy

A surgical incision made in the perineum to enlarge the vaginal opening during childbirth, often performed to prevent tearing.

Vernix

A white coating that moisturizes skin, provides natural lubrication during birth, offers antibacterial protection, and regulates body temperature.

Lanugo

Soft, fine hair found on premature babies that helps regulate temperature.

Induced Birth

A baby delivered before labor naturally begins.

Cesarean Section

A surgery to deliver the baby through the abdomen.

Lamaze

Technique that teaches muscle relaxation and breathing.

Epidural

A procedure used in over $50\%$ of hospital births.

Hypnobirthing

The use of self-hypnosis to reduce pain.

APGAR

Acronym for Appearance, Pulse, Grimace, Activity, Respiration.

Neonatal Behavioral Assessment Scale

An assessment with a scale of $0-3$.

Anoxia

A temporary lack of oxygen to the brain.

Low Birth Weight

Weight less than $5.5\,ibs$.

Preterm Baby

A baby born atlas than $37\text{ weeks}$.

Small-for-date/Gestational Term

A weight below the $10\text{th percentile}$ for gestational age.

Baby Blues

Feeling sadness for $3-5\text{ days}$ after birth.

Postpartum Depression

Clinical depression affecting $1$ in $8$ women during week $4$ following pregnancy.

Psychotic Features

Hallucinations and delusion following birth affecting $1$ in $500$ women.