NURS week 2
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Date Created: 01/14/16
Medical Genetics and Genetic counseling Prevalence • Humans have ~20,000-25,000 genes • The functions are unknown for over 50% of discovered genes • 5-10% of all cancers have a hereditary component • 10% of the chronic diseases (heart, diabetes arthritis) which occur in the adult populations have a significant genetic component • 50% of intellectual disability has a genetic basis • There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births Genetic Facts • Genetic does not always mean “inherited”. o Denovo: A child can have a genetic condition even if no one else in the family has the same condition. • Gene mutations can be benign or cause human disease. • There is a 3-5% background risk for each pregnancy to result in a child with a birth defect or genetic condition. • All humans are carriers of ~4-8 recessive (nonworking) genes. o Recessive = “hidden” so we usually don’t know which recessive genes we carry unless our child/family member is identified with a recessive, genetic condition. The Seattle Children’s Medical Genetics Team • Geneticists o Mike Bamshad, MD (Division Chief) o Margaret Adam, MD o Anita Beck, MD o James Bennett, MD o William Dobyns, MD o Ian Glass, MD o Anne Hing, MD o Heather Mefford, MD o Dan Miller, MD o Ghayda Mirzaa, MD o Angela Sun, MD o Stephanie Wallace, MD Genetic Counselors • Genetic counselors o Health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. • Genetic counseling o the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. Pedigree & Family History • Interpret family history to assess the chance of disease occurrence or recurrence • Obtain directed family history in pedigree form using standard symbols, including: o The patient's first degree (children, siblings, parents) and second degree (grandparents, grandchildren, aunts, uncles, nieces, nephews) relatives, and further removed as appropriate o Status of current pregnancies o Ethnic background o Presence of consanguinity Pedigree & Family History • Chromosomes > Gene > Protein o Smaller/ similar o Protein: collection of amino acid § Some amino acid like each other, some repel, some are neutral • This is what can lead to a mutation in the sequence o Chromosome: § First 22 = autosome § Last one: sex chromosome (x, y) o Gene: recipes § Deletion § Insertion § monsense § misseses • Patterns of Inheritance o Single Gene § Autosomal Dominant § Autosomal Recessive § X-Linked § Chromosomal § Multifactorial Autosomal Dominant § 50% of passing it on and have the condition § examples of dominant § Neurofibromatosis § Achondroplasia § Kabuki syndrome § Marfan syndrome § Huntington Disease § Familial Adenomatous Polyposis(FAP) § Waardenburg syndrome § Stickler syndrome Neurofibromatosis Type I § Caused by mutations on the NF1 gene § One of the most common single gene disorders in man § Occurs in 1 in 3000-4000 live births § Diagnosis based on clinical criteria: o Café au lait macules § Darker spots on the skin o Freckling § In areas that do not get high sun exposure (armpit, groin) o Peripheral or plexiform neurofibroma § Bundling of nerve fibers (lumps/painful) o Lisch nodules § Freckling in the iris § 100% by the age of 18 o Optic glioma o Distinct osseous lesion o Affected first degree relative Autosomal Recessive § Autosomal Recessive Conditions § Do not show symptoms, 25% of having a child with the condition if your partner is also a recessive for the gene o Cystic Fibrosis § (1/3200 Caucasian live births) o PKU § (Phenylketonuria) (1/15,000) § Metabolic condition o Sickle cell disease § (1/500 of African American births) o ~40% of all congenital hearing loss § (10% due to GJB2 gene/Connexin 26 protein) Cystic Fibrosis (CF) § Caused by mutations in the CFTR gene § Affects epithelia of the respiratory tract (primarily), exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands (used for clinical test), resulting in complex multisystem disease § Pulmonary disease is the major cause of morbidity and mortality in CF § The carrier frequency in North American Caucasians is approximately 1 in 29 Phenylketonuria (PKU) § Deficiency of phenylalanine (PAH) § Causes o Intellectual disabilities o Fair skin o seizures X-Linked § Higher prevalence in men because they only have 1 X chromosome § Fragile X syndrome § Hemophilia A – o Factor VIII Deficiency (1/7,500 male births) o affects how your blood clots § Duchenne and Becker Muscular Dystrophy o (~1/3,000 male births) o Becker: death not till middle age o Duchenne: death around 20 Fragile X Syndrome § Approximate incidence o 1 in 4000 in males o 1 in 8000 in females § Causes intellectual disability, learning challenges and behavioral difficulties (most common challenge) o Usually males are more severely affected than females § Physical characteristics o Long and narrow face, o Large ears, o Prominent jaw and forehead o Enlarged testicles (macroorchidism) after puberty § Trinucleotide repeat disorder that demonstrates anticipation (premutation expands to full mutation when passed from mother) o At FMR1 gene § CGC repeats § Full mutations: >200 CGC repeats • Intermediate: 45-54 CGC • Pre-mutation: 55-200 CGC repeats o Pre-mutation carriers are at risk for FXTAS (fragile X-associated tremor/ataxia syndrome) and primary ovarian insufficiency Chromosomal § Translocation o Balanced: no chromosomal loss, just a shift in location o Unbalanced: deletion of some part of chromosome while relocation § Consider testing o A child born with two or more major birth defects o A fetus with a major structural anomaly on U/S o Unexplained mental retardation especially in a person with dysmorphic features o Ambiguous genitalia o Multiple pregnancy losses o Family history of mental retardation and individuals with multiple congenital anomalies o Unexplained infertility § Examples of conditions § Down syndrome o (1/800 live births and increases with advanced maternal age) § Turner syndrome o – 45,X (1/2000 girls) o a girl only has 1 x chromosome § Sex chromosome: o 47,XXY; 47,XYY; 47,XXX § Chromosome deletions/duplications § 0.5% of all newborns have a chromosomal abnormality Down Syndrome – Trisomy 21 o Approximate incidence of 1 in 800 o The most common pattern of malformation in man o Characteristic facial features and physical characteristics o Nearly 50% of babies have congenital heart defects o Need routine screening because of the weakness in the heart o Want to be able to catch health issues that could arise easily and in the early stages o All individuals have developmental delay and some degree of intellectual disability 22q11.2 Deletion Syndrome o Incidence is approximately 1 in 4000 o Also known as Velo-Cardio-Facial syndrome or DiGeorge syndrome o Has a range of clinical findings o Congenital heart disease (74% of individuals), o Palatal abnormalities (69%), o Immune deficiency, o Learning difficulties, o Psychiatric disorders o Young children with the 22q11.2 deletion syndrome have delays o Motor milestones (mean age at walking of 18 months) o Emergence of language (many are nonverbal at age 2-3 years) o Autism/autistic spectrum disorders in approximately 20% Multifactorial o Harder to console/what the family will do with this knowledge o a combination of environmental and genetic factor o Symptoms are shown when the factors overlap o EX: smoking and never getting lung cancer o Males and females affected equally o No clear pattern o Skips generations o Few affected family members o Examples o Spina bifida o Isolated cleft lip/palate o 4-5% of passing on based solely on genetics o Isolated congenital heart disease Genetic Testing o Karyotype o Chromosomal Microarrays o Most common! o Looking for small extra material § Deletions/ insertions o FISH (Florescence In Situ Hybridization) o Smaller section of chromosome looking at o Sequencing o MLPA (Multiplex Ligation-Dependent Probe Amplification) o Testing Panels o Looking at multiple genes at the same time § Could be a few genes or thousands • Greater the genes the less accuracy • Good to be more targeted o Whole Exome Sequencing o Super expensive!! o Biochemical Use of Genetic Testing o Diagnostic Testing o Predictive Testing o If a person thinks they have a predisposition gene o Help for proactive decision making o Carrier Testing o Prenatal Testing o Preimplantation Genetic Diagnosis o When there is a family history and want to know how likely the fetus is to developing the syndrome o Newborn Screening o EX: heal pricking o Ancestry Testing Points to consider o DNA testing may yield diagnostic information at a lower cost and with less risk than other procedures o Diagnostic testing is usually appropriate in symptomatic individuals of any age o Establishing a diagnosis may require more than one type of genetic test (e.g. Angelman syndrome) o Confirming a diagnosis or gene carrier may alter medical management for the individual o Diagnostic testing of an individual may have reproductive or psychosocial implications for other family members o Genetic testing may not be necessary Presymptomatic/predictive testing o Predictive testing is MEDICALLY INDICATED o If early diagnosis allows interventions which reduce morbidity or mortality o Even in the absence of medical indications, predictive testing can influence life planning decisions o Identification of the specific gene mutation in an affected relative should precede predictive testing. o Predictive testing of asymptomatic children at risk for adult onset disorders is not typically recommended when there is no known medical intervention (ACMG Policy Statement). Genetic Discrimination o Def: Genetic discrimination occurs when an institution/individual treats an individual differently based on their genetic status when that individual is not currently ill and may never become ill o Laws are in place to protect individuals from discrimination for health insurance and in the workplace o These laws do not provide protection for life insurance, long-term care insurance, or disability insurance Genetic Information Non-Discrimination Act of 2007 (GINA) o All health plans covered, including the individual market o Prohibits enrollment restrictions or changing premiums on the basis of predictive genetic information o Health plans and insurers cannot request or require that an individual take a genetic test, or reveal the test results o Prohibits health plans and insurers from pursuing or being provided information on predictive genetic information or genetic services o Workplace o Prevents discrimination in hiring, compensation and other personnel processes § Employers cannot require or request results from predictive genetic testing § Genetic testing can only be done to monitor the adverse effects of hazardous workplace exposures Genetic Medicine Genetics Consultation: reason for visit o A genetics consultation involves evaluation of an individual or family for one or more of the following: o Confirming, diagnosing or ruling out a genetic condition o Identifying medical management issues o Calculating and communicating genetic risks o Providing or arranging for psychosocial support o The Seattle Children’s Medical Genetics Team o Geneticist § MD providers o Nurse Practitioner o Genetic Counselor o Nurse § Not as hands on, more of the arrangement of the testing and make sure the testing is done properly and delivering results (normal results) Genetic Medicine clinics at Seattle Children's o General o Cardiac Genetics o Neurofibromatosis o Skeletal Health and Metabolic Bone Disease o Cancer o Craniofacial o Disorders of Sexual Development o Neurogenetics o Biochemical Genetics o Prenatal o Helping high risk pregnancies Referrals to Genetics Clinic o Developmental delay o Not doing well in school, not hitting the developmental milestones o Dysmorphic features o Multiple congenital anomalies o Single malformation o Small physical indicators of conditions o Growth difference o Known or suspected genetic condition o Family history of genetic condition Pediatric Genetics Consultation o Assessment: o Gather information prior to the visit o Evaluation: o Review medical and family history, perform a physical examination and review tests and imaging and try to put it all together. o Communication: o Discuss our impression and recommendations (diagnosis, further testing and imaging, medical surveillance, recurrence risk.) o Support: o Helping the family cope o Letthe family make the choice when and how often to have these genetic testing o Follow-up: o Maintaining ongoing care Developmental delay o Onset, severity, regression o The basics info o What is actually going on o the issue being present o Related neurocognitive diagnoses o Past medical history o Family history o Physical exam for growth o Head circumference o Dysmorphic features o Cutaneous findings o Neurologic exam o Molecular/cytogenetic testing, imaging Dysmorphic features and Congenital anomalies o Medical history o Family history o Physical exam for growth, head circumference, additional features o Resources o Cytogenetic or molecular testing, imaging Short and Tall stature o Medical History: o Onset, growth parameters, other health concerns o Family history: o Mid-parental height o Physical: o Asymmetry, head circumference o X-rays: o Bone age, skeletal survey o Figure out their skeletal maturity to determine the severity of the condition o Molecular Testing Known or suspected genetic condition o Updated Literature Review—What is the latest news on this condition o GeneTests o OMIM o Pubmed o Decipher o London Dysmorphology Database o Medical history, family history, exam o Testing, imaging, consults Tool box o GeneTests (www.genetests.org) o Set up as a database to figure out where to sends gene tests o Accurate information source! o PubMed-Literature Review o Look ofr up to date articles/publication in all of the medical field o OMIM (Online Mendelian Inheritance in Man) o Focused on genes and specific conditions related to genes o London dysmorphology database o Ability ot throw in distinguishable features but cannot pin point the exact condition o This database will give you the list of possible conditions o Text books o Colleagues and experts Symmetric vs. asymmetric o nutritional asymmetric - typically affects weight, then height and lastly head circumference Age of onset (prenatal vs. postnatal) Proportionate vs. disproportionate o proportionate - systemic (endocrine/metabolic) o disproportionate - local (skeletal) Growth Deficiency o Normal Variants o Familial short stature o Constitutional Growth Delay o Pathologic o Disproptional § Skeletal dysplasias o Proportional § post Body Proportions o Is this patient's growth a normal variant? o Mid-Parental Height o Familial short stature o Child's height is within 2 SD of mid-parental height o What is the child’s height age? o What is the child’s bone age? o Constitutional growth delay o Height age will correlate with bone age and both will be less than chronological age. Is this patients growth deficiency pathologic? o Normal Variants o Familial short stature o Constitutional Growth Delay o Pathologic o Upper/Lower Segment Ratios averages by age and ethnicity Birth 1.7 1 year of age 1.5 10 years of age 1.0 Adults: Males 0.975 Females 1.025 Ethnicity: Asians ~ 1.1 Caucasians ~ 1.0 Blacks ~ 0.9 If patient's stature isn't normal variant and body proportions are normal. What next? o Initial work up of proportionate short stature: o thyroid panel o IGF-1, IGF-BP3 o CBC, basic metabolic panel, UA o bone age o Pubertal growth does not allow catch-up growth. o Patients should be evaluated and treated prior to puberty. Disproportionate short stature o "Genetic" short stature: o bone age often close to chronological age o Prenatal or postnatal o average birth length is 20 in Ø < 5% is < 18 in (47 cm) at full-term o US/LS ratio Ø short trunk (< 0.9) Ø short limbs (> 1.1) o X-rays o Skeletal Dysplasias Dysplasia (Greek) dys - difficult or disordered & plassein - to form o short limbs - rhizomelic, mesomelic, acromelic o cranio- o spondylo- o epiphyseal o metaphyseal o diaphyseal o congenita o tarda o 250 skeletal dysplasias have been described Achondroplasia o Autosomal dominant - 1/15,000 Ø 98% Gly380Arg o 80-90% sporadic, advanced paternal age o 100% penetrant, minimal variability o Physical examination findings: o rhizomelic short stature o prominent forehead o megalencephaly o low nasal bridge o midface hypoplasia o extra skin folds o trident hands o hypotonia o joint laxity o lumbar lordosis Marfan syndrome o Autosomal dominant connective tissue disorder that o affects 1-2 per 10,000 o Eye o Myopia o Ectopia lentis (60%) o Retinal detachment o Early cataracts o Glaucoma o Skeletal o Tall stature o Long limbs and digits o Joint laxity and restriction o Chest shape difference o Flat feet, inrolling ankles o Protrusio acetabuli o Facial differences (long faces, deep set eyes, down slant of the eyes, flat cheek bones, small and receded chin, narrow palate, dental crowding) o Cardiovascular o Aortic root dilation, tear and rupture o Other arterial aneurysms o Mitral valve prolapse and regurgitatio Systemic Score: o The 2010 Revised Ghent Nosology for Marfan syndrome relies on seven rules: o In the absence of family history: o Aortic Root Dilatation Z score ≥ 2 AND Ectopia Lentis = Marfan syndrome o Aortic Root Dilatation Z score ≥ 2 AND FBN1 = Marfan syndrome o Aortic Root Dilatation Z score ≥ 2 AND Systemic Score ≥ 7pts = Marfan syndrome o Ectopia lentis AND FBN1 = Marfan syndrome Prenatal Development and Birth Ira Kantrowitz-Gordon, PhD, CNM, ARNP Learning Objectives • Provide an overview of prenatal development, pregnancy, and birth • Understand social and psychological cultural contexts of pregnancy and fetal development Maternal Health U.S How are we doing? • We are not doing too well o 18/100,000 women die every year when pregnant § this statistic is increasing o highest in African American women • Preterm Birth: Global/Local o Local: 10-15% § We have the same value as sub Saharan Africa for preterm births § Again highest numbers for African American women • Unintended Pregnancy o 50% planned o 31% mistimed o 19% unwanted o Make more money > pregnancy that you are intended to have o More prevalent for unwanted/mistimed pregnancies in southern states Environmental Context • Exposures and Birth Defects o Embyotic development happens really fast! § Within the first 8 weeks the majority of the bodies organs have started to form • Early Prenatal Care Too Late? o A person does not get prenatal care till the fetal period (9ish weeks) Risks Related to Exposures • Most common exposures come from legal substances • Teratogenicity o Timing: § Earlier can be worse o Dose- threshold o Chronicity of exposure o Metabolism- § Genetically determined • Tobacco, ETOH, Cocaine o Each inhale of the cigarette affects the baby § Each inhale is a hit to the baby • Environmental toxins o Pesticides, heavy metals, industrial bi-products • Diagnostic testing o X-rays, radiopaque dyes o Causes exposure Medications Exposure Risks • Case studies are the only ethical way we can study these drugs and there effects Prescription • Accutane • Contraceptives o No negative effects on the child due to the similarities in hormones types and quantities • Anti-epileptics • Opiates o Babies can get addicted and can go through withdrawal when born Over the counter • Ibuprofen o Increases the risk of blastocyst implantation failing (sometimes) o Increase heart trouble • Pseudoephedrine o Increase blood pressure… Fetal Development Blastocyst § Fertilized egg rapidly divides § Overall no growth in size § Forms ball of cells § Implantation complete about 12 days after fertilization • Has an inner cell mass and cavity inside the trophoblast o The inner cell is what becomes the actual fetus • Implantation takes about 12 days Embryonic Stage • 2 to 8 Weeks after Conception • Neural tube develops. • Forms foundations of all body organs and systems • Many organs and systems begin to function. Fetal Stage • End of Week 8 until Birth • Growth from 1/4 ounce and 1 inch to 7 pounds and 20 inches in length • Refinement of all organ systems o Allows for a bit of outside functioning of the child • Neuronal proliferation o Axons are sent out throughout the body • Viable at Week 24; full-term at Week 39 o Able to stay alive • Early fetal development • Blastocyst to fetus PRENATAL BEHAVIOR/ BIRTH OUTCOME • Fetuses can differentiate between familiar and novel stimuli by 32 to 33 weeks. • Newborns can remember prenatal stimuli and react accordingly. o Reading a book to the belly at night o Causes a physiological calming when read the book after the baby is born • Very active fetuses tend to be active children o Can be labeled “hyperactive” later on in life Maternal Health • Why preconception health matters o This could bring up the idea that overall the health of women in the US is not the most important this would help explain the high birth mortality Chronic Illnesses • Examples o Diabetes (pre-gestational) § 1 in 4 o Epilepsy § Some of the medication are the causes o Lupus § Cause still births • Effects o Illness on pregnancy/fetus o Pregnancy on illness § Have to take in to account the health of the mother and the illnesses she has Pre-gestational diabetes Age • First pregnancies are occurring later—average age is now 25.1 years. • Women over 35 have higher risks for pregnancy complications. • Teenage mothers have higher risks during and after birth. • US rate 26.5 births/1000 women 15-19 (CDC) Obesity and Birth Outcomes • Gestational Hypertension, Diabetes • Macrosomia, shoulder dystocia • Cesarean birth • NICU admission • Stillbirth • Dose dependent effect Pre-pregnancy BMI Dutch Hunger Winter 1944-1945 • The Germans starved the Dutch population in the winter • Average calorie intake o 500-1000 kcal/day • Were able to follow the people who were born in those periods o Depending on the trimester that the baby was in when starved would show different levels of long term affects Developmental Programming • Recent research has suggested the influence of early life stress on the pathophysiology of depression later in life • Longitudinal study of anxiety in pregnancy and effects on offspring in 86 mothers; 68 children followed through age 14-15 o Antenatal exposure to maternal anxiety at 12–22 weeks pregnancy was in both sexes associated with a high, flattened cortisol day-time profile o This altered cortisol response was associated with depression in female adolescents • Optimal health of women in pregnancy and afterwards makes sense for women and children. Stress and Mental Health Rubin’s Developmental Tasks (hierarchy of needs) • Ensuring a safe passage through pregnancy and childbirth • Ensuring acceptance of child by significant persons in her family • Binding in to her unborn child • Learning to give herself (after birth) • Bonding with the baby o Fetal presence, growth, and movements become more part of the woman’s “experiential self” o Begin the work of bonding and attachment when the fetus becomes real § Hearing the heartbeat § Quickening § Ultrasound o Interacting with fetus Perinatal Mood Disorders (get in the way with bonding) • 7.4 – 12.0% of pregnant women experience a depressive disorder nd rd o Higher in 2 & 3 trimester • Pregnancy not protective for most mood and anxiety disorders. o Relapse rate 26% when antidepressants continued o Relapse rate 68% when discontinued • Diagnosis often missed due to failure to screen or disclose o It is seen that you should be happy when you are pregnant o Is not screened for in doctor appointments Balancing Risks • Depression o Maternal burden of illness o Miscarriage o Preterm birth, low birth weight o Child behavioral and psychological abnormalities • Antidepressants (SSRIs) o Heart defects (rare) o Persistent pulmonary hypertension (rare) o Neonatal withdrawal syndrome § transient irritability: common Neonatal Withdrawal Syndrome (Depression) • Transient (1-2 weeks) neonatal symptoms in <30% of late third trimester exposure to antidepressants • Increased or decreased muscle tone, irritability, jitteriness, hypothermia, abnormal breathing pattern, tremor, feeding problems • Discontinuing medication prior to delivery may increase risk of maternal relapse Long-Term effects of Antidepressants • Most studies do not suggest negative effects on child neurodevelopment with SSRIs exposure during pregnancy or breastfeeding • Child cognitive and behavioral status often poorly assessed, and mixed samples in many studies • Hard to separate effects of treatment from effects of underlying illne s Prenatal Care • Types of providers: Obstetricians, nurse-midwives, family physicians, maternal-fetal medicine, genetics counselors, social workers, etc. • Individual care or group care (CenteringPregnancy) o Monthly group visit for 2ish hours § Allows for more time in sharing, making friends, longer health info talks • Early prenatal care (1 trimester) • The Midwifery Model of Care o Recognizes the woman as a unique individual in context of her family and community o Supports and protects the normal physiologic process of labor and birth o Establishes the woman as active partner in her own care § Make the mother be active in her plan care • Goals of Prenatal Care o Health, education, and prevention § Monitor fetal growth and well-being • The mother is the best for information and drawing conclusions o Early detection of disease (gestational diabetes, hypertension) o Prevent stillbirth and birth injury o Prevent maternal mortality o Measuring fundal height § Cm = weeks pregnant o Electronic Fetal Monitoring § Check the babies health and brain § Do low risk stress test o Ultrasound information § Fetal anatomy § Fetal growth § Cervical length § Fetal well-being § Placenta/amniotic fluid • Tests o Blood type o Infections o Diabetes testing o Blood pressure § Some conditions can not be cured § The cure is to get the baby out (induced labor) o Urine protein • Genetic Testing o Options (quad screen, nuchal translucency, CVS, amniocentesis, NIPT) o Why do any of these? § To detect health issues/ birth defects § Knowledge for both health care and parents § To determine if you want to continue the pregnancy o How does it impact developing relationship? • Diagnostic Tests o Both CVS and amniocentesis are tools for sampling fetal cells § Some capture cells fro the fetus that is sloughed off or take cells from the placenta o Cell-free DNA testing § Some of the babies cells will actually makes its way into the mothers blood stream § These cells can be detected Labor and Birth • Labor: An Overview • 1 Stage o Contractions which effect progressive dilation of the cervix nd • 2 Stage o Pushing baby through the vagina and birth of the baby • 3 Stage o Birth of the placenta and umbilical cord THE THREE STAGES OF LABOR • Open the pelvis o Lunging and squatting • Ease the back o Hands and knees o kneeling • Upright o Standing swaying • 2 stage positions o “Women should be encouraged to give birth in comfortable positions, which are usually upright.” (Cochrane Database 2004) o don’t lie down on your back…. • “Purple pushing” o Sustained valsalva bearing down efforts may slightly shorten second stage o Negative effects § De-oxygenation of the fetus § Damage to perineal/urinary/pelvic anatomy § Increased maternal fatigue, lactic acidosis • Physiologic pushing o The sounds help you push better!!!! • Spontaneous efforts • Two phases to 2 stage • Open glottis • Shorter pushes • Noise (grunting) • No counting Cesarean Deliveries • Why are Cesarean deliveries performed? o A life saving procedure o Happens a bit too much… • Why to do it o Fetal distress o Poor progress during labor (impatience, malposition, size) o Breech presentation o Severe maternal illness THE APGAR SCALE • The Evidence o 30 studies (n=1925) found that immediate mother and infant skin-to skin-contact: • Keeps the newborn warmer • Reduces infant crying in the first hour of life • Improves breastfeeding initiation and duration • Improves infant sleeping and maternal attachment behavior Skin-to-Skin • Skin-to-skin is not swaddling o Recommended for the first hour of life • Promotes heat transfer from mother to infant • Promotes bonding and breastfeeding • Increases newborn’s blood sugar
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