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Transcript

DEFINITION OF TERMS o Mutation – mistake in copying genetic code which creates permanent o Fertilization – also known as alteration in genetic material conception, is the process by which sperm and ovum (sex cells) combi...

DEFINITION OF TERMS o Mutation – mistake in copying genetic code which creates permanent o Fertilization – also known as alteration in genetic material conception, is the process by which sperm and ovum (sex cells) combine to o Autosomes – not affiliated to sexual create a single cell called zygote, which expression o Sex Chromosomes – 23rd then duplicates itself again and again pair which indicates the baby’s sex by cell division. (XX, female: XY, male) o Ovulation – rupture of mature o Alleles – produce alternative follicle in either ovary and expulsion of expressions of characteristics its ovum which occurs every month until menopause o Homozygous – if two alleles are the same o Dizygotic Twins – also known as Fraternal Twins o Heterozygous – if two alleles are different ▪ Two separate eggs being fertilized by two different sperms o Dominant – allele that is always expressed or shows up as a trait in that ▪ Can be same or different sex person ▪ May have genetic basis o Recessive – usually doesn’t show unless paired with another recessive o Monozygotic Twins – resulted from trait the cleaving of one fertilized egg and are generally genetically identical o Polygenetic Inheritance – interaction of several genes o Heredity – genetic transmission of heritable characteristics from parents to o Phenotype – observable offspring characteristics o Deoxyribonucleic Acid – long, o Genotype – underlying genetic spiraling ladder whose steps are made makeup of pairs of chemical units called bases o Epigenesis – environment can ▪ Adenine, Thymine, Cytosine, influence when and which genes turn Guanine on and off o Chromosomes – coils of DNA of ▪ Refers to chemical molecules smaller segments called genes o attached to a gene that alter the way a Mitosis – cell division of non-sex cells cell “reads” the gene’s DNA o Meiosis – cell division of sex cells. ▪ Cells are susceptible to epigenetic modification during critical periods such as puberty and pregnancy o Carriers – carry one bad copy of recessive gene and one good one o Genotype-Environment Interaction – effects of similar environment conditions on genetically different individuals o Genotype-Environment Correlation – environment often reinforces genetic differences a. Passive Correlations: parents tend to provide environment that encourages the development of that trait b. Reactive or Evocative: children with differing genetic makeups evoke different reactions from others, other people react to the children’s genetic makeup c. Active: actively selects or create experiences consistent with their genetic tendencies ▪ Niche-Picking – tendency to seek out environments compatible with one’s genotype o Nonshared Environmental Effects – result from the unique environment in which each child in a family grows up o Infertility – inability to conceive a child o In Vitro Fertilization – eggs and sperm are combined in a laboratory dish PRENATAL DIAGNOSTIC TESTS 1. Ultrasound Sonography – high frequency sound waves are directed into the pregnant woman’s abdomen ▪ No risk to the woman or fetus ▪ Detect abnormalities, no. of fetuses, and sex Raised Basal Body Temperature 2. Fetal MRI – uses powerful magnet and radio images to generate detailed GERMINAL STAGE images of the body’s organs and structures o from fertilization to about 2 weeks of gestational age 3. Chorionic Villus Sampling – small sample of placenta is removed o Zygote enters into cell division (mitosis) while making its way to the ▪ Small risk of limb deformity fallopian tube 4. Amniocentesis – sample of amniotic o Differentiation – specialization of fluid is withdrawn and tested for the cells to perform various tasks chromosomal and metabolic disorders 5. Maternal Blood Screening – o Blastocyst – fluid-filled sphere identifies pregnancies that have an which floats freely in the uterus until elevated risk for birth defects Prenatal 6th day after fertilization then it Development implants itself in the uterine wall o Gestation – period between o Trophoblast – outer layer of cells conception and birth that later provides nutrition and support for the embryo ▪ Between 37 and 41 weeks o Ectoderm – outer layer (becomes ▪ Gestational Age: dated from the first outer layers of skin, nails, hair, teeth, day of an expectant mother’s last sensory organs, and the nervous menstrual cycle Stages of Prenatal system) Development o Endoderm – inner layer (becomes o Cephalocaudal Principle – digestive system) development proceeds from head to the lower extremities o Mesoderm – middle layer (becomes inner layers of skin, muscles, skeleton, o Proximodistal – development and excretory and circulatory systems) proceeds from the center to outer parts of the body o Amniotic Sacs – encloses the o Breathe, kick, turn, etc. o Facial developing embryo, protecting it and expressions of pain at 36 weeks giving it a room and grow o Responds to mother’s voice o Placenta – allows oxygen, nourishment, and wastes to pass o Fetuses know when they approach between mother and embryo the near end of the pregnancy o Umbilical Cord – connects the o Grasping reflex embryo to the placenta o 6 months or more fetuses can survive EMBRYONIC PERIOD outside the womb o from 2 to 8 weeks (First 2 months) o o 24-37 months babies need help in Major body systems (respiratory, breathing digestive, and nervous system) develop ENVIRONMENTAL known as Organogenesis INFLUENCES o Critical Period – most vulnerable to o Teratogen – environmental agent that destructive influences can interfere with normal prenatal o Spontaneous Abortion (Miscarriage) development – expulsion from the uterus of an o Teratology – field of study that embryo that is unable to survive investigates the causes of birth defects outside the womb NUTRITION MATERNAL o Stillbirth – miscarriage occurred after WEIGHT 20 weeks of gestation (approx. 5 months) o Women of normal weight are less likely to have birth complications o Males are more likely to be spontaneously aborted or to be stillborn o Overweight women have risk of having longer deliveries, need more FETAL PERIOD health care services, gestational o from 8 weeks to Birth diabetes, cesarean delivery, birth defects etc. o Appearance of the first bone cells o Omega-E, DHA, Folic Acid for the o Final stage of gestation development of nervous system o Grows rapidly to about 20x its MALNUTRITION previous length o Results to fetal growth restriction o Finishing touches and low birth weight PHYSICAL ACTIVITY AND o Caffeine has slightly increased risk WORK for miscarriage, stillbirth, and low birth weight babies o Moderate exercise is recommended to reduce back pain, risks for o Rubella almost certain to cause gestational diabetes and etc. deafness and heart defects to babies DRUG INTAKE o Toxoplasmosis – caused by parasite in the bodies of cattle, sheep, and pigs, o Thalidomide – caused stunted limbs, and in the intestinal tracts of cats that facial deformities, and defective organs causes fetal brain damage, severely o Another set of drugs that are harmful impaired eyesight, seizures, for pregnant women: Antibiotics, miscarriage, etc. certain Barbiturates, Opiates, o Diabetic mothers are most likely to Accutane have babies that have heart and neural o Opioids are associated with small tube defects babies, fetal death, preterm labor, and MATERNAL ANXIETY, STRESS, aspiration of meconium AND DEPRESSION o Babies born with drug-addicted o Stress and anxiety has been mothers tend to experience withdrawal associated with more irritable and once they are born and no longer active temperament in newborns receive drugs o Chronic stress can result in preterm o Neonate Abstinence Syndrome – delivery sleep disturbance, tremors, difficulty regulating the body, irritability, crying o Depression may cause premature and etc. birth or developmental delays o Fetal Alcohol Syndrome – MATERNAL AGE characterized by a combination of retarded growth, face and body o Chance of miscarriage or stillbirth malformations, and disorders of the rises with maternal age central nervous system o Adolescent Mothers tend to have o Maternal smoking was identified to premature or underweight babies be the most important factor for low- OUTSIDE ENVIRONMENTAL birth weight babies HAZARDS o Tobacco also increases the risks of o Includes air pollution, radiation, miscarriage, growth retardation, chemicals stillbirth, SIDS, etc. o Fetal exposure to low level of environmental toxins may result to asthma, allergies, lupus o X-Rays could triple the risk of having full-term, low-birth weight babies PATERNAL FACTORS o Exposure to lead, marijuana, tobacco, radiation, pesticides, etc. may result in abnormal or poor-quality sperm o Babies who fathers had diagnostic x- rays within the year prior to conception o Midwifery – profession that provides or had a high lead exposure at work health care to women during tends to have low birth weight and pregnancy, birth, and even postpartum slowed fetal growth. period o older fathers may be significant o Doula – caregiver who provides source of birth defects due to damaged continuous physical, emotional, and or deteriorated sperm such as educational support for the mother dwarfism, schizophrenia, bipolar before, during, and after childbirth disorder, ASD METHODS OF CHILDBIRTH PRENATAL CARE o Electronic Fetal Monitoring – used o Prenatal cell-free DNA Scans – fetal to track the fetus’ heartbeat during DNA is extracted from the mother’s labor and delivery and to indicate how blood and tested for early detection of the fetal heart is responding to the genetic problems stress of uterine contractions BIRTH PROCESS ▪ can provide valuable information in high-risk deliveries o Labor – process of giving birth ▪ extremely high false-positive rate o Parturition – series of uterine, cervical, and other changes which o Three kinds of drugs are used for begins 2 weeks before the delivery labor: o Braxton-Hicks Contractions – false a. Analgesia – pain reliever such as contractions o Real labor contractions tranquilizers, barbiturates, and are more frequent, rhythmic, and narcotics painful, and they increase in frequency and intensity b. Anesthesia – used in the late first ▪ Performed if the baby is lying stage labor and during delivery to block crosswise, if the baby’s head is too sensation in an area of the body or to large, complications, or if the mother is block consciousness bleeding internally ▪ Epidural Block – regional anesthesia ▪ Not recommended prior to 39 weeks that blocks the lower part of the body of gestation unless there is an indication of fetal lung maturity ▪ Pudendal Block – vaginal anesthesia ▪ Breech Position – baby’s buttocks c. Oxytocin – hormone that promotes are the first part to emerge from the contraction (Pitocin) vagina which can cause respiratory o Natural Childbirth – method that problems aims to reduce the mother’s pain by ▪ Complications: bleeding, infection, decreasing her fear by providing damage to pelvic organs, post- information about childbirth and operative pains, riskier future teaching her and her partner to use pregnancies breathing methods and relaxation techniques during delivery o Bradley Method – husbands as coaches, relation for easier birth and prenatal nutrition and exercise o Prepared Childbirth or Lamaze method – special breathing technique to control pushing in the final stages of labor o Vaginal Delivery – usual childbirth o Benefits: surge of hormones that clear the lungs and excess fluid, mobilize stored fuel to nourish cells, ASSESSING THE NEWBORN and send blood to the heart and brain o APGAR Scale – widely used to o Cesarean Delivery – baby is assess the health of newborns at 1-5 removed from the mother’s uterus mins after birth through an incision made in her abdomen o Lanugo – fuzzy prenatal hair o Vernix Caseosa – oily protection against infection that dries within the first few days o Anoxia – lack of oxygen o Hypoxia – reduced oxygen supply o Anoxia or Hypoxia occur during delivery result of repeated compression ▪ 7-10, condition is good of the placenta and umbilical cord that ▪ 5, developmental difficulties could leave permanent brain damage, mental retardation, behavior problems ▪ 3 or below, emergency and the baby or even death might not survive o Meconium – stringy, greenish-black ▪ 9-10 score, risk of developing ADHD waste matter formed in the fetal in childhood intestinal tract o Brazelton Neonatal Behavioral o Neonatal Jaundice – skin and Assessment Scale – performed within eyeballs look yellow caused by 24-36 hrs. after birth to assess immaturity of the liver neurological development, reflexes, and reactions PRE-TERM AND LOW BIRTH WEIGHT INFANTS o Neonatal Intensive Care Unit Network Neurobehavioral Scale – o Low Birth Weight Infants – weigh assessment of the newborn’s behavior, less than 5 pounds and 8 ounces at birth neurological and stress response, and ▪ Very Low birth Weight – less than 3 regulatory capacities pounds 4 ounces o Newborn Screening for Medical ▪ Extremely Low Birth – less than 2 Conditions - check for rare genetic, pounds hormone-related, and metabolic conditions that can cause serious health o Pre-term Infants – born three weeks problems or more before pregnancy reach full term (before the completion of 37 o Boys tend to be slightly longer and weeks of gestation) heavier than girls o Small for Date Infants (Small for o First born weigh less that later born Gestational Age Infants) – those o Fontanels – where the bones of the whose birth weight is below normal skull don’t meet when the length of pregnancy is considered o Progestin – might help in reducing o Sudden and dramatic hormone preterm birth production o Extremely Preterm – born less than o Estrogen and progesterone levels 28 weeks gestation drop steeply and remain low until the ovaries start producing again o Very Preterm – less than 33 weeks EMOTIONAL AND o Kangaroo Care – involves skin-to- PSYCHOLOGICAL skin contact in which the baby, wearing ADJUSTMENT only diaper, is held upright against the parent’s bare chest to help stabilize the o Emotional fluctuations are common preterm’s heartbeat, temp, and breathing o Postpartum Blues – 2-3 days after birth they feel depressed, anxious, and o One condition commonly faced by upset preterm babies is respiratory distress syndrome wherein there is a lack of o Postpartum Depression – involves a surfactant (lung coating substance) that major depressive episode that typically keeps air sacs from collapsing occurs about four weeks after delivery or at least a two-week period of having o Postmature Babies – tend to be long trouble coping with their daily task and this because they have kept growing in the womb but have had an o Postpartum Depression could affect insufficient blood supply toward the how the mother interacts with her end of gestation infant o Sudden Infant Death Syndrome – o Fathers may also experience crib death; sudden death of an infant depression or they may feel replaced by under age 1 which cause of death the baby remains unexplained BONDING POSTPARTUM PERIOD o Formation of connection, especially a o Period after childbirth physical bond between parents and the newborn in the period shortly after o Lasts for about 6 weeks or until the birth mother’s body has completed the adjustment and returned to nearly o Newborn MUST have close contact prepregnant state with the mother in the first few days of like to develop optimally is NOT true PHYSICAL ADJUSTMENT o Loss of sleep that the primary caregiver experiences during this period

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genetics fertilization prenatal diagnostics biology
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