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CONCEPTION FETAL DEVELOPMENT & GENETICS Chapter 10
Mary L. Dunlap MSN, Fall 2015
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Fetal Development Measured in the number of weeks after fertilization
Average pregnancy lasts 280 days or 40 weeks from the date of the last menstrual period (LMP) Fertilization usually occurs 14 days after the LMP
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Three Stages of Fetal Development
Preembryonic stage: fertilization through the second week Embryonic stage: end of second week through the eighth week Fetal stage: ninth week until birth
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Preembryonic Stage (Stage 1)
Fertilization - union of the ovum and sperm in the outer 3rd of the fallopian tube creating a zygote The union restores the diploid number of 46 chromosomes
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Fetal Development Fertilization
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Preembryonic Stage (Stage 1)
Zygote undergoes cleavages (mitosis) as it is transported to the uterine cavity in 72⁰ Cleavages create a ball of 16 cells called a morula, which divides into cells that form fetal structures
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Preembryonic Stage (Stage 1)
Blastocysts - inner cells form the embryo and the amnion Trophoblasts - outer cells form the embryonic membranes, Chorion and placenta Implantation in the endometrium occurs between the 7th to 10th day.
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Embryonic Stage (Stage 2)
Fetal membranes start forming around the time of implantation Decidua- endometrial linning Chorion-placenta Embryonic germ layers- ectoderm, mesoderm, endoderm Amnion- lines the amniotic sac & forms the umbilical cord
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Embryonic Stage (Stage 2)
Amniotic Fluid Surrounds embryo, Helps maintain a constant body temperature for the fetus Permits symmetric growth and development Cushions the fetus from trauma
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Embryonic Stage (Stage 2)
Amniotic Fluid Function Allows the umbilical cord to be relatively free of compression Promotes fetal movement to enhance musculoskeletal development
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Embryonic Stage (Stage 2)
Umbilical cord Life line between mother and embryo 1 large vein & 2 small arteries (AVA) Wharton’s jelly surrounds the blood vessels preventing compression Term length 22 in. / 1 in. wide Central insertion site on the placenta
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Embryonic Stage (Stage 2)
Placenta Functioning by end of the 3rd wk. Produces hormones that control the basic physiology of the mother and near term mature fetal organs for life outside of the uterus Protects the fetus from immune attack by the mother Removes waste produced by the fetus
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Embryonic Stage (Stage 2)
Placental barrier prevents the mix of maternal blood with fetal blood Placental Hormones Human chorionic gonadotropin (hCG) Human placental lactogen (hPL) Estrogen, progesterone Relaxin
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Embryonic Stage Maternal Fetal circulation via the placenta
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Development Embryonic and Fetal Development Table 10-1 p 286-287
Use pictures and models 4 wk. 5 wk. 6 wk.
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Development Fetal Development
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Embryonic stage 3rd to 8th wk.
Development Embryonic stage 3rd to 8th wk. Neural tube forms Brain waves detectable Heart development completed and beats Arms and legs move Resembles a human being Weight 1gram
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Fetal Stage (Stage 3) 9Th week to Birth
12 wks.- heart beat heard with Doppler, sex is distinguishable, placenta formation completed 13-16 wks.- fetal movement (quickening) felt by mother 17-20 wks.- heart beat can be heard with a stethoscope All major systems are present- they need to grow & finish developing
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Fetal Stage (Stage 3) 21-24 wks.- lungs produce surfactant
24-32 wks.- alveoli begin to mature, eyelids can open and close, increase in subcutaneous fat 32-40 wks.- fetus kicks actively, lanugo decrease, weight 7-8 lb’s Length in
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12-15 wk. fetus
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Fetal Circulation Needed to sustain the fetus
Must develop quickly and accurately since the fetal nutrient needs Increase as the embryo advances to a fetus Oxygen received from the placenta Placenta functions for the fetal lungs and liver Carries highly oxygenated blood to vital organs ( heart, brain) while shunting away From less vital organs (lungs, liver)
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Fetal Circulation Three unique shunts Ductus Venosus Foramen Ovale
Ductus Arteriosus Fetal Circulation Prior to Birth Foramen Ovale & Ductus Arteriosus Ductus Venosus bypass liver & inters inferior vena cava Foramen Ovale- shunt blood from R to L atria Ductus Arteriosus- returning blood bypasses lungs, connects main pulmonary artery to aorta Fetal Circulation Placenta → umbilical vein →small amount of blood goes to liver via portal vein →remainder shunted away through Ductus Venosus to Inferior vena cava → to R Atrium where blood is shunted through an opening to the L Atrium flowing to the brain & upper extremities→ the remainder travels from the R atrium to the R ventricle Through the pulmonary artery to the nonfunctioning lungs→ returning blood is shunted through the Ductus Arteriosus →Descending aorta
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Fig Pg.- 291
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Genetics Human Genome Project 1990 International 13 year study
Goal map the human genome Better understanding how genetic changes contribute to disease Helped develop new strategies for prevention, diagnosing and treating diseases and disorders
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Genetics Genetic services are becoming an integral part of medical care. Diagnostic procedures have provide the opportunity to increase survival rates. Nursing needs basic knowledge to be able to help their patients.
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Genetic Disorders Result from abnormalities in patterns of inheritance or chromosomal abnormalities
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Chromosomal Abnormalities
1 in 33 infants born in the U.S. have birth defects and genetic disorders Numeric abnormalities Structural abnormalities
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Numeric Abnormalities
Often result due to failure of the chromosome pair to separate Few of these abnormalities are compatible with normal development and end in spontaneous abortion Two common abnormalities Monosomies and Trisomies
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Numeric Abnormalities
Monosomies-missing a chromosome only one instead of a pair Trisomies - three of a particular chromosome Trisomy 21(Down syndrome)
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Structural Abnormalities
Breakage and loss of a portion of one or more chromosomes and the broken ends rejoin incorrectly Altered structure can be a deletion, duplication, inversion or translocation Mutation
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Structural Abnormalities
Cystic fibrosis Phenylketonuria Sickle cell Tay-Sacks
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Structural Abnormalities
Huntington's disease Polycystic kidney disease Cri du Chat syndrome Fragile X syndrome
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Threats to Development
The following are capable of inducing abnormal fetal structure or function by interfering with normal fetal development Teratogens Medications TORCH infections Placenta functioning end of 3rd wk Teratogens- alcohol, tobacco, caffeine, recreational drugs TORCH T- Toxoplasmosis single cell parasite uncooked meat cat feces & soil causes damage to fetal eyes & brain O- other infections chicken pox HIV Syphilis congenital abnormalities R- rubella mental retardation C- cytomegalovirus H- herpes
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Genetic Evaluation and Counseling
Genetic counseling is an evaluation of an individual to confirm, diagnose or rule out a genetic condition.
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Genetic Evaluation and Counseling
Ideal time: before conception “ preconception counseling provides the opportunity to identify, reduce, and plan for potential risks.
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Genetic Evaluation and Counseling
Reasons an individual should be referred to genetic counseling (see Box 10-2 Pg.302)
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Genetic Evaluation and Counseling
Genetic Testing Genetic Counseling Discussion about Genetic Counseling
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Nurse’s Role Discussing costs, benefits, and risks of using health insurance, and potential risks of discrimination Recognizing ethical, legal, and social issues Safeguarding privacy and confidentiality Monitoring emotional reactions after receiving information
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Nursing Role Providing emotional support
Referring to appropriate support groups Beginning the preconception counseling process and referring for further genetic information Taking a family history (Box 10-4 Pg. 257)
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Nursing Role Scheduling genetic testing Explaining the purposes, risks/benefits of all screening and diagnostic tests (see Laboratory and Diagnostic Tests 10-1 Pg. 258) Answering questions and addressing concerns
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Prenatal Testing and Hard Choices
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Antepartum Testing Understanding Prenatal testing
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Antepartum Testing Alpha-fetoprotein Amniocentesis
Chorionic villus sampling Percutaneous umbilical blood sampling Fetal nuchal translucency Level II ultrasound Triple marker test
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Antepartum Testing Alpha-fetoprotien Diagnostic Amniocentesis
Chorionic Villus Sampling CVS Percutaneous umbilical blood sampling PUBS Fetal nuchal translucency Types of Ultrasounds 7 min Quad screen
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