Overview of the chapter topics:
The beginnings: From conception to birth.
Important terms to know.
Development from zygote to newborn.
Birth process.
Formation of a new family.
Humans as a species share a remarkable genetic similarity.
Each individual is unique, with distinct characteristics.
Chromosome and Gene Information:
Humans possess approximately 21,000 genes on 46 chromosomes arranged in pairs.
Out of these, 22 chromosome pairs are closely matched; the 23rd pair determines sex (XX for females, XY for males).
Gametes:
Reproductive cells, sperm (male) and ova (female).
Each gamete contains 23 chromosomes.
Zygote: Formed when an ovum and sperm combine, resulting in a total of 46 chromosomes (23 from each parent).
Definitions of key genetic terms:
Genome: Complete set of genetic instructions.
Allele: Different versions or forms of a gene.
Genotype: An organism's genetic makeup or potential.
Phenotype: Observable characteristics resulting from genotype.
Copy Number Variations:
Involves genes with repeated or deleted base pairs; more common than single-gene variations.
Dominant and Recessive Genes:
Dominant genes have a more significant impact on phenotype than recessive genes.
Dominant genes can mask the traits of recessive genes.
X-linked genes:
Special variant of the dominant-recessive inheritance pattern.
Types of twins:
Monozygotic (Identical) twins: Form from one zygote that splits early in development.
Dizygotic (Fraternal) twins: Result from two separate ova fertilized by two different sperm.
Three main periods of prenatal development:
Germinal period: First 14 days after conception.
Embryonic period: Third to eighth week of development.
Fetal period: Ninth week until birth.
First 14 days post-conception:
Begins with zygote duplication.
Placenta development and implantation occur (around 10 days).
By third to eighth week:
Formation of the neural tube, critical for brain and spine development.
Early features such as head shape and facial structures develop.
Heart starts to beat and limbs begin to separate.
From ninth week to birth:
Genital formation and the influence of sex hormones on brain development.
Significant brain growth occurs during the fourth to sixth months.
By three months, the fetus weighs about 3 ounces.
Defined as the point at which a preterm newborn could survive outside the womb with medical assistance:
Approximately 22 weeks post-conception.
At this stage, the brain can regulate essential body functions, such as breathing.
Survival statistics during developmental periods:
Germinal Period: 65% don't survive.
Embryonic Period: 20% aborted spontaneously.
Fetal Period: 5% suffer spontaneous abortion before viability.
Birth: Roughly 27% of zygotes develop into living newborns.
Most people (92%) don’t have serious genetic conditions.
Up to half of zygotes may have abnormal chromosome numbers leading to spontaneous abortion.
99% of newborns have a complete set of 46 chromosomes.
Some conditions related to trisomy (additional chromosome):
Patau syndrome: 1 in 10,000 births.
Edwards syndrome: 1 in 5,000 births.
Down syndrome: 1 in 700 births.
Genetic issues affecting sex chromosomes:
Infants born with atypical numbers of sex chromosomes may face cognitive and fertility issues.
Common gene disorders:
Recessive disorders: Early-onset Alzheimer’s, muscular dystrophies, Marfan syndrome, Huntington’s chorea.
X-linked recessive conditions: Hemophilia, Duchenne muscular dystrophy, Fragile-X syndrome.
Common genetic disorders: Sickle-cell disease, cystic fibrosis.
Major human traits typically arise from multiple genes,
Some genes may be beneficial while others can lead to conditions like anxiety.
Provides guidance to prospective parents about genetic risks.
Importance of excellent communication skills.
Agents causing prenatal abnormalities include:
Viruses, chemicals, drugs, chronic stress.
Damage can occur during critical exposure periods.
Fetal alcohol syndrome (FAS): Consequences of alcohol exposure during pregnancy.
Some zygotes inherit genes making them more susceptible to teratogens,
Male fetuses show higher vulnerability to such agents.
Defined categories:
Low birthweight (LBW): Under 5½ pounds.
Very low birthweight (VLBW): Under 3 pounds 5 ounces.
Extremely low birthweight (ELBW): Under 2 pounds 3 ounces.
Risks associated with low birthweight include:
Developmental delays and increased impairment rates.
Long-term effects manifesting in smaller brain volumes and lower IQ in childhood.
Labor initiation:
Triggered by signals from the fetal brain causing uterine contractions.
Average duration for first births: 12 hours; later births: around 7 hours.
Stages of labor:
Stage 1: Early and active labor.
Stage 2: Delivery.
Stage 3: Afterbirth.
Delivery settings:
Variations exist between nations and localities.
Common settings: Hospitals, homes, birthing centers, midwives, and doulas.
Risks associated with non-hospital births:
Potential for higher infant mortality and lack of insurance coverage.
Benefits:
Typically lower costs and reduced medical interventions.
Advantages:
Quick removal of fetus, scheduled births.
Disadvantages:
Potential issues with breastfeeding and higher risks of medical complications in infants.
Apgar scale: Measures newborn health on a scale from 0-10; below 5 indicates emergency.
Components: Appearance, Pulse, Grimace, Activity, Respiration.
Brazelton Neonatal Behavioral Assessment:
Assesses newborn responsiveness, tracking 46 behaviors and 20 reflexes.
Significance of bonding:
Importance of early contact, cross-fostering, and kangaroo care.
Potential problems for mothers:
Physical and psychological challenges including baby blues and postpartum depression.
Role of fathers and support systems:
Importance of paternal involvement in maternal health and stress management for fetal well-being.