History and Physical Examination : Medical School Crash Course by AudioLearn

History & Physical Examination Medical School Crash Course™

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Table of Contents Preface .............................................................................................................................................. i Chapter 1: History Taking in Infants and Children ................................................................................1 Newborn History Taking ......................................................................................................................... 1 Components of the Neonatal History ..................................................................................................... 1 Family and Genetic History ..................................................................................................................... 1 Maternal Antenatal History Taking ......................................................................................................... 4 Labor and Delivery History ...................................................................................................................... 5 Postnatal History..................................................................................................................................... 6 Key Takeaways ........................................................................................................................................ 6 Quiz ......................................................................................................................................................... 6 Chapter 2: History Taking in Adults .....................................................................................................9 Overview ................................................................................................................................................. 9 Personal Profile ....................................................................................................................................... 9 Chief Complaint .................................................................................................................................... 10 History of Present Illness ...................................................................................................................... 10 Past Medical History ............................................................................................................................. 10 Review of Systems ................................................................................................................................ 12 Factors interfering with an Adult History Evaluation ............................................................................ 14 Key Takeaways ...................................................................................................................................... 14 Quiz ....................................................................................................................................................... 14 Chapter 3: Vital Signs and General Overview .................................................................................... 17 First Impressions ................................................................................................................................... 17 Respiratory Rate ................................................................................................................................... 17 Blood Pressure ...................................................................................................................................... 18 Pulse ..................................................................................................................................................... 20 Temperature ......................................................................................................................................... 20 Pulse Oximetry ...................................................................................................................................... 21 Key Takeaways ...................................................................................................................................... 22 Quiz ....................................................................................................................................................... 22 Chapter 4: Head and Neck Examination ............................................................................................ 25 The Eye Examination ............................................................................................................................. 25 Extraocular Movements ........................................................................................................................ 26

Visual Fields .......................................................................................................................................... 27 Ophthalmoscopic Exam ........................................................................................................................ 27 Head and Neck Lymph Nodes ............................................................................................................... 30 Ear Examination .................................................................................................................................... 31 Nose Examination ................................................................................................................................. 33 Sinus Examination ................................................................................................................................. 33 The Oropharyngeal Examination .......................................................................................................... 33 Thyroid Examination ............................................................................................................................. 34 Cranial Nerve Assessments ................................................................................................................... 35 Key Takeaways ...................................................................................................................................... 36 Quiz ....................................................................................................................................................... 36 Chapter 5: Chest and Cardiac Examination ........................................................................................ 39 Lung Examination.................................................................................................................................. 39 Inspection ............................................................................................................................................. 39 Palpation ............................................................................................................................................... 40 Percussion ............................................................................................................................................. 40 Auscultation .......................................................................................................................................... 40 Cardiovascular Examination .................................................................................................................. 42 Observation .......................................................................................................................................... 43 Palpation ............................................................................................................................................... 43 Auscultation .......................................................................................................................................... 44 Identifying Murmurs ............................................................................................................................. 44 Key Takeaways ...................................................................................................................................... 45 Quiz ....................................................................................................................................................... 45 Chapter 6: Abdominal Examination .................................................................................................. 48 Observation .......................................................................................................................................... 48 Auscultation .......................................................................................................................................... 49 Percussion ............................................................................................................................................. 49 Palpation ............................................................................................................................................... 50 Digital Rectal Examination .................................................................................................................... 51 Key Takeaways ...................................................................................................................................... 52 Quiz ....................................................................................................................................................... 52 Chapter 7: Genitourinary Examination .............................................................................................. 55

Breast Examination ............................................................................................................................... 55 Male Genital Examination ..................................................................................................................... 56 Testicular Examination .......................................................................................................................... 57 Prostate Examination ............................................................................................................................ 58 Pelvic Examination ................................................................................................................................ 58 Key Takeaways ...................................................................................................................................... 59 Quiz ....................................................................................................................................................... 59 Chapter 8: Motor Neurology Examination......................................................................................... 62 Upper Motor Neuron versus Lower Motor Neuron Disease ................................................................. 62 Testing the Muscle Groups ................................................................................................................... 62 Upper Extremity Function ..................................................................................................................... 63 Lower Extremity Function ..................................................................................................................... 63 Observations of the Motor System ....................................................................................................... 64 Motor Reflexes ..................................................................................................................................... 65 Key Takeaways ...................................................................................................................................... 66 Quiz ....................................................................................................................................................... 66 Chapter 9: Sensory Neurology Examination ...................................................................................... 69 Light Touch and Pain Sensations ........................................................................................................... 69 Proprioception ...................................................................................................................................... 69 Stereognosia and Graphesthesia .......................................................................................................... 69 Extinction .............................................................................................................................................. 70 The Basic Screening Test for Sensation ................................................................................................. 70 Sensation Losses in Peripheral Neuropathy .......................................................................................... 71 Sensations in Radiculopathy ................................................................................................................. 71 Sensations in Spinal Cord Injury ............................................................................................................ 71 Sensation in Brainstem Lesions ............................................................................................................. 72 Sensation in Thalamic Lesions ............................................................................................................... 72 Sensation in Cerebral Cortical Lesions .................................................................................................. 72 Key Takeaways ...................................................................................................................................... 72 Quiz ....................................................................................................................................................... 72 Chapter 10: Musculoskeletal Examination ........................................................................................ 75 Musculoskeletal Examination Tips ........................................................................................................ 75 Examination of the Knees ..................................................................................................................... 75

The Shoulder Examination .................................................................................................................... 77 Examination of the Wrist and Hand ...................................................................................................... 79 Examination of the Elbow ..................................................................................................................... 79 Examination of the Hip ......................................................................................................................... 80 Key Takeaways ...................................................................................................................................... 81 Quiz ....................................................................................................................................................... 81 Chapter 11: Mental Status and Psychiatric Examination .................................................................... 83 Mental Status Examination or MSE ....................................................................................................... 83 Delirium versus Dementia..................................................................................................................... 83 The Mini Mental Status Examination or MMSE .................................................................................... 84 The Psychiatric Assessment .................................................................................................................. 84 Substance Abuse Assessment ............................................................................................................... 85 Suicide Assessment ............................................................................................................................... 86 Aggression Assessment ......................................................................................................................... 87 Psychiatric Assessment of Cultural Issues ............................................................................................. 88 Psychiatric Assessment of Medical Health ............................................................................................ 89 Involving the Psychiatric Patient in the Treatment Process .................................................................. 90 Key Takeaways ...................................................................................................................................... 91 Quiz ....................................................................................................................................................... 91 Chapter 12: Examination of the Newborn ......................................................................................... 94 Basics of the Newborn Examination ..................................................................................................... 94 Head Assessment .................................................................................................................................. 95 Chest Examination ................................................................................................................................ 97 Skin Examination................................................................................................................................... 98 Abdominal Examination ........................................................................................................................ 99 Genitourinary Examination ................................................................................................................... 99 Extremity Examination .......................................................................................................................... 99 Neurological Examination ................................................................................................................... 100 Key Takeaways .................................................................................................................................... 100 Quiz ..................................................................................................................................................... 100 Summary ....................................................................................................................................... 103 Course Questions and Answers ...................................................................................................... 105

Preface All encounters with patients, whether they be well or sick patients, start with a thorough history and physical examination. The history and physical examination is more than just talking to the patient and evaluating their complaints. A good history and physical examination will cover most of the body areas and will identify the presenting complaint diagnosis and fully assess the patient’s overall health. This course discusses the step-by-step approach to evaluating patients of all ages with varying complaints. The first chapter of the course will talk about the difficult task of obtaining a thorough history on a newborn, infant, or young child. They often have a very sparse medical history but may have a lengthy history to be obtained regarding their genetic risks, prenatal health history, and the history of events surrounding their birth and time following their birth. The comprehensive medical history is the focus of the second chapter in this course. A history should be obtained before doing any type of physical examination as it provides extremely useful information that can direct the physical examination allowing more important areas to be covered more thoroughly. There are parts of the medical history that are related to this current complaint, and parts that relate to the general health and past medical history of the patient. The third chapter of the course covers the initial impressions of the patient to be examined and the vital signs. The vital signs include the pulse, respiratory rate, blood pressure, and the pulse oximetry reading. These can be done by the provider or by an ancillary healthcare staff, such as a nursing assistant or nurse. This chapter covers these important aspects of the physical examination along with the initial impression of the patient. The fourth chapter in the course covers the head and neck examination. This includes an evaluation of the eyes, ears, nose, throat, a dental evaluation, and usually a brief examination of the cranial nerves. There are subspecialties for each of these evaluations, but the ordinary healthcare practitioner must know about how to perform these evaluations as part of a normal physical examination. The fifth chapter of this course is intended to cover the topic of the chest examination, which includes both the lungs and the cardiac examination. These are often examined together as part of a complete history and physical examination. In very basic examinations of the patient, the heart and lungs are often are evaluated. The normal and abnormal chest examination are covered as part of this chapter. The focus of the sixth chapter is the abdominal examination. This examination starts with simple observation of the abdomen, followed by auscultation. Things like percussion and palpation are always performed after auscultation, as they can increase due to abdominal manipulation. The abdominal examination should also include evaluation of the solid organs of the abdomen and the abdominal viscus. Multiple abdominal disorders can be identified through the physical examination. The seventh chapter of the course involves the examination of the genitourinary system in adults. The genitourinary tract needs to be examined carefully in both males and females. This section covers the i

examination of the genitourinary and reproductive tracts of males and females. The examination of the female breast is included as part of evaluating the female reproductive system. These are sensitive examinations but must be included as part of a thorough medical evaluation. The eighth chapter covers the motor portion of neurological examination. This examination involves body positioning, muscle tone, muscle strength (in all extremities), and involuntary movements. Some portions include only observation, while other portions of the examination involve specific acts that must be performed by the healthcare provider. The ninth chapter of the course discusses how to perform a basic sensory neurological examination. This includes assessing the patient for the ability to detect light touch, pain, proprioception, graphesthesia, stereognosis, and extinction. There are multiple common diseases that affect sensation, making this an important examination to do perform on all patients. The topic of chapter 10 in the course is the musculoskeletal examination. Muscle tone is usually assessed as part of the motor neurological examination, so this chapter is devoted to the examination of the joints. Joint examinations routinely performed on patients complaining of localized or generalized joint pain. The evaluation of all major joints is included as part of this chapter. The focus of the eleventh chapter of the course is the mental status examination and the psychiatric examination. Not every patient needs a mental status examination. However, if anyone struggles to answer questions or focus throughout the history, a mental status examination should be performed. The psychiatric exam, however brief, should be performed on every patient, particularly those with a history of mental and emotional problems. The purpose of the twelfth chapter of the course is to understand how best to perform a newborn examination. Newborns cannot give a history but there is usually a significant amount of information that can be obtained from the parents including the prenatal history, problems with the birth, and any issues since birth. A thorough physical examination is also performed to provide a good assessment of the newborn’s overall health.

Chapter 1: History Taking in Infants and Children This chapter covers the often difficult task of obtaining a thorough history on a newborn, infant, or young child. They often have a very sparse medical history, but may have a lengthy history to be obtained regarding their genetic risks, prenatal health history, and the history of events surrounding their birth and time following their birth.

Newborn History Taking A baby is considered a newborn for the first 28 days of its life. Premature babies or babies born with serious medical conditions are treated as newborns for much longer. The provider may see the newborn in a level 1 nursery, which cares for well infants born at least 36 weeks gestation or more, and do not require any special care or resuscitation. A level 2 nursery is a nursery where premature babys weighing more than 1500 g, or were born at 32 weeks. These infants require special care and observation, but are generally well infants. A baby in level 3 nursery care requires complex care. A variety of medical subspecialties care for these infants, who often require strict temperature regulation, ventilation, special nutritional needs, and treatment for premature complications. A level 4 nursery has all of the features of a level 3 nursery, but involves neonatal surgeons as these infants require surgical intervention.

Components of the Neonatal History There are three main components of a neonatal history, each of which should be addressed when evaluating a newborn infant. • • •

Mother’s and father’s medical and genetic history Obstetrical history of pregnancy Antepartum and intrapartum history

Family and Genetic History Common and rare diseases can occur in clusters in the same family. The most common diseases, such as heart disease, diabetes, and certain cancers are often discovered with a thorough family history. Rarer diseases, such as metabolic diseases, sickle cell disease, cystic fibrosis, and clotting factor diseases, also run in families but can be more difficult to assess because they are not very common. It is important to ask about diseases in siblings, parents, and grandparents, as the most common diseases will tend to present in this group of relatives. For rare diseases, the provider may have to ask about the health of distant relatives. 1

Autosomal dominant diseases tend to be the easiest to discern. This is because the parent is often afflicted with the disease, and has a 50% chance of passing the disease to their offspring. X-linked recessive diseases and autosomal recessive diseases have parents who are carriers but do not have symptoms, making it important to ask about distant relatives. Some parents will have been genetically screened, so they may already know they are a carrier of certain autosomal recessive traits. The family’s genetic history has very important information that can predict current and future illnesses in a newborn infant. Having a positive family history for hypertension may not be important in the newborn age; however, this will be a child that should be followed closely for hypertension as they age. Some genetic diseases will have an environmental component. If a child is found to be genetically predisposed to a disease, they may be able to avoid certain lifestyle or environmental components that will reduce their risk of developing that disease. This is especially true for certain cardiovascular, autoimmune, and conditions like hypertension and cancer. While newborns never get breast cancer, it may be important determine if their mother or father carries the BRCA1 or BRCA2 gene mutation. Both of these mutations can lead to early breast or ovarian cancer. These children will need to have early screening for these cancers. There are three gene mutations that predispose a person to early Alzheimer’s disease. If early Alzheimer’s disease runs in the family, the child can be screened early in life and interventions against getting the disease can be implemented before they develop symptoms. However, there are some ethical issues around to knowing a person is at risk for this disease and family members who want to know beforehand should receive genetic counseling. Some genetic diseases have a high rate of spontaneous mutations. These include hemophilia A, trisomy 21, Duchenne muscular dystrophy, and chromosomal deletion syndromes. In such cases, a negative family history does not rule out the possibility that the child may have the disease. The general family medical history should include three generations, starting with the grandparents, then the parents, and then the siblings of the affected baby. The names and birth dates should be recorded as well as the ethnicity of all family members. Both common and rare diseases should be asked about in all generations. If anyone has died, their age at death and the cause of their death should be recorded. The mother’s previous pregnancy outcomes and the pregnancy outcomes of close family relative should be recorded as this might identify diseases that can affect an infant early in age. In some cases, it is important to ask about the health of the baby’s cousins, aunts, and uncles as this may uncover genetic diseases not present in the grandparents or parents. Some diseases are better understood by drawing a pedigree. A pedigree is a visual representation of the family tree, including living and dead family members, and including any diseases that might be passed on from generation to generation. It is a good way to visualize patterns of inheritance, and can be updated at any time. The healthcare provider can do a quick genetic screen by having the parents fill out a questionnaire about the different genetic diseases that might run in the family. The pediatrician can look over this 2

questionnaire and attempt to get additional answers regarding any positive responses. Approximately one out of five couples will give a positive response to this type of questionnaire, with about 8% of couples requiring some type of formal genetic counseling. The most common reason for formal genetic counseling is advanced maternal age, which includes an advanced age of any gamete donor. Common questions asked in genetic screening questionnaires include maternal age, history of chromosomal abnormality, history of neural tube defects, history of cystic fibrosis, history of mental retardation, history of miscellaneous genetic disorders, history of stillbirths, ethnicity of the parents, and drug or medication use in pregnancy. Some positive responses to the genetic screening tool will require a referral to a geneticist for complex genetic counseling. The finding of an autosomal recessive trait in a second or third degree relative places the infant at a very low risk of also having the disorder unless the couple is closely related to one another. Certain autosomal dominant disorders with decreased penetrance and certain X-linked recessive disorders can only be identified by evaluating distant relatives’ disease history. Drug and other toxic exposures before pregnancy can be mutagenic to gametes, resulting in a spontaneous mutation not directly inherited by the parent. The parental ages need to be recorded, although the offspring of fathers who are of advanced age have fewer risks than the offspring of mothers who are of advanced age. However, men who are 50 years of age, or older, carry a risk of having a child with a spontaneous genetic mutation. Ethnicity is important as well. Ashkenazi Jews tend to intermarry and have a higher risk of having a child with Tay-Sachs disease, which is autosomal recessive. About one in 27 Ashkenazi Jews will be carriers for the disease. Because many Jews do not know their ethnic origin, is recommended that all Jewish couples, or couples where one member is Jewish, be screened for Tay-Sachs and Canavan disease. Mediterranean individuals should be screened for beta thalassemia and African Americans should be screened for sickle cell trait. Chorionic villus sampling, or amniocentesis, should be performed if the screening test for Tay-Sachs or Canavan disease is positive. Similar definitive testing should be done for sickle cell trait, familial dysautonomia, beta thalassemia, alpha thalassemia, or cystic fibrosis. This will help determine the genotype of the fetus and prepare the family, should they choose to go through with the pregnancy. Ashkenazi Jews need special attention. Approximately one in seven people of this heritage will be heterozygous for Niemann-Pick disease, Gaucher disease, Tay-Sachs disease, Bloom syndrome, and similar disorders. These people can be screened during pregnancy or prior to having children, and should utilize the best genetic counseling available. While there are legal requirements for the screening of diseases like phenylketonuria and congenital hypothyroidism, other screening tests are purely voluntary and should not be forced upon couples who do not want to know the genotype of their child, or who will not make any changes in their pregnancy if the child has the disease. Screening is also useless if nothing can be done to alter the course of the disease. This is why metabolic screenings for phenylketonuria and congenital hypothyroidism are required. Both of these diseases are easily managed when discovered early enough in childhood. Those 3

diseases that cannot be treated in childhood are generally not screened for. These include Tay-Sachs disease, Duchenne muscular dystrophy, and trisomy diseases. Screening for heterozygosity in autosomal recessive diseases can be performed in couples who would make different mating choices if they knew they were likely to have a child afflicted with an autosomal recessive disease. The screening should be done before becoming pregnant; however, early pregnancy screening with the option to have a planned miscarriage can also be done. Only a few disorders of neonates are actually cost-effective enough to be done in the neonatal period. These include congenital hypothyroidism, sickle cell anemia, and phenylketonuria. There are numerous other diseases that could be tested for (and some are mandated by state law); however, they are so rare that they are not cost effective to perform. The goal of genetic history-taking is to identify whether the infant is at high-risk or low-risk for a disorder. Infants identified as high-risk through genetic history-taking can be confirmed as having, or not having, the disorder through blood testing or karyotyping. This can lead to early diagnoses and treatment interventions for the baby who has the disease. Sometimes, it is determined that the baby doesn’t have a particular disease but that the parents or parent carries the disease in their genetic makeup. This can alter their plans to have further children, or encourage them to screen subsequent fetuses early in the course of later pregnancies. Being completely nondirective when counseling the couple of a baby or fetus is probably not realistic. There are verbal and nonverbal ways of influencing couple who are trying to make health decisions regarding their baby, fetus, or future children. Even so, it is important to objectively give the couple the facts and the options available to them. The more they know about the disorder and its implications, the better informed they can be when deciding on a personalized treatment plan. It is especially difficult to counsel a couple with a previously abnormal pregnancy outcome or a child who died or is severely afflicted with a genetic disease. Time must be taken to determine the risk the couple has of a similar outcome with their current pregnancy. Doing so helps them make decisions about whether to be tested completely, and whether they will have an abortion should the child be afflicted with the same condition as their sibling. Genetic counseling, while helpful to the infant and its parents may carry a social stigma if the test returns positive, and may affect their ability to get health insurance in the future. Children found to be at a high risk for a serious disease in the future may not be as employable and may be denied fullcoverage insurance if the information about their genetic status is made public. It is unclear whether or not the clinician has the legal obligation to disclose the findings of genetic testing.

Maternal Antenatal History Taking Part of a newborn history evaluation is to assess the mother’s previous pregnancies, their complications, and any pregnancy complications during the recent pregnancy. Things that should be asked about include seizures in pregnancy, the need for a Cesarean section (and why), postpartum hemorrhaging, 4

previous late-pregnancy stillbirths, preterm births in the past or with this pregnancy, prior neonatal losses, multiple spontaneous abortions, gestational age at most recent pregnancy, and pregnancyrelated complications. Any major illnesses during the pregnancy should be uncovered as certain infectious diseases can affect the fetus. Important maternal factors include the maternal age, the mother’s blood type and sensitization status, the presence of previous transfusions, maternal bleeding disorders, heart disease or hypertension in the mother, diabetes in the mother, maternal STIs (especially herpes, hepatitis B, and HIV disease), and recent maternal exposure to infectious diseases. Things in the family history that are important to ask about include known genetic diseases and historical facts that suggest an undiagnosed genetic disease. Metabolic disorders are usually autosomal recessive, hemophilia is autosomal recessive, cystic fibrosis is autosomal recessive, and polycystic kidney disease is usually autosomal dominant. Undiagnosed diseases can show up as multiple early deaths in related infants. Previous pregnancy outcomes should be asked about, including any history of fetal demise that was undiagnosed, frequent miscarriages, deaths in the neonatal period, preterm births, post-term deliveries, fetal birth defects, neonatal respiratory distress, neonatal pathological jaundice, or bradycardia/apnea spells. Undiagnosed fetal or neonatal deaths could indicate an undiagnosed genetic disorder that needs further investigation. A maternal drug history during this pregnancy should be undertaken. Drugs like magnesium, lithium, alcohol, tobacco, cocaine, beta blockers, and other substances of abuse can harm the infant and can affect the child long term, and must be inquired about. With regard to the most recent pregnancy, the gestational age at birth should be noted as there can be problems with both preterm and post-term deliveries. The LMP should be recorded, as well as when the first heart tones were heard. Any ultrasound results can be helpful in confirming dates and identifying some types of birth defects. Amniocentesis or CVS results can identify single gene mutations or major chromosomal abnormalities. The results of the rubella screen should be recorded, along with the RPR result, HIV screen, hepatitis B surface antigen screen, Group B strep culture, and whether or not antibiotics were given for this infection. Serious perinatal infections can be avoided by treating a woman about to give birth with antibiotics. Pregnancy-related things that can affect the newborn include preeclampsia in pregnancy, bleeding late in the pregnancy, trauma during the pregnancy, and surgery necessary in pregnancy. A woman with gestational diabetes carries a risk of having a child with neonatal hypoglycemia shortly after birth, so this is especially important to ask about as it affects the workup and care given to the newborn infant.

Labor and Delivery History Issues around labor and delivery are important to ask when doing a newborn history. The method of birth, including the presentation are important to know. The presence of premature rupture of 5

membranes or prolonged rupture of membranes (greater than eighteen hours before birth) are important to note. Record the total length of labor before delivery and note whether the labor was longer than 24 hours (prolonged labor). Maternal fevers in labor are important to know, as is a history of non-reassuring fetal heart tones or evidence of fetal distress during labor. Drugs given in labor may affect the fetus after birth (especially narcotics and general anesthesia.) Meconium-stained amniotic fluid may be significant. The need for oxygen in labor may indicate prolonged fetal distress. Ask if the delivery was spontaneous or required vacuum-assistance as this can result in a cephalohematoma if done repeatedly. Incorrectly-placed forceps-assisted deliveries can result in skull or facial trauma. If there was a need for a cesarean section, the indications for this need to be determined. Intrapartum questions that affect the health of the newborn include the presence of shock in the other or infant, respiratory distress, asphyxia prior to birth, fever or hypothermia in the infant, hypoglycemia, low APGAR scores (the latter number best reflecting long-term outcome), and an examination of the placenta for abnormalities.

Postnatal History Inquiring about the infant’s first few days and weeks of life is important. Things that are important are level of alertness and sleeping behaviors, type of feeding (breast versus formula-feeding), number of wet diapers per day, and number of bowel movements per day. If breastfeeding, ask about any drugs or medications the mother is taking and whether or not she has been sick or febrile since giving birth. It is also important to ask about the home environment, including exposure to sick siblings, safety in the home, and exposure to secondhand smoke.

Key Takeaways • • • • •

The infant can’t give a history so the parents must provide the necessary health information. A genetic history and genetic screening (in some cases) can identify babies at risk for genetic diseases. The mother should be asked about problems with past pregnancies. Problems with the current pregnancy, including labor and delivery need to be asked about. The health of the infant in the first few days and weeks after birth should be part of an infant history.

Quiz 1. What nursery level will a premature infant born at 28 weeks gestation require if they do not need any type of surgery? a. Level 1 b. Level 2 6

c. Level 3 d. Level 4 Answer: c. This type of infant will need special care from multiple subspecialties and will require a level 3 nursery. 2. What is not considered part of a newborn history evaluation? a. Dietary history b. Intrapartum history c. Genetic background d. Pregnancy-related history Answer: a. The least helpful part of the newborn history evaluation is a dietary history. The intrapartum history, the genetic background, and the pregnancy-related history are all important parts of the newborn evaluation. 3. What type of inheritance pattern is the easiest to determine when evaluating a newborn for a genetic disease? a. Autosomal recessive b. Autosomal dominant c. X-linked recessive d. Polygenetic diseases Answer: b. Autosomal dominant diseases are easy to assess because at least one parent is known to have the disease themselves. 4. Which is not usually inquired about as part of a genetic screening history? a. Maternal age b. History of Down syndrome c. Smoking history in pregnancy d. Ethnicity Answer: c. All of the above inquired about a genetic screening history, except for maternal smoking history in pregnancy. However, the use of drugs or medications during pregnancy is asked about. 5. Above what age is a man likely to have a child at a greater risk for a spontaneous mutation? a. 35 b. 40 c. 45 d. 50 Answer d. Men above the age of 50 have a higher risk of having a child with a spontaneous genetic mutation. 6. What disease is not generally tested for through amniocentesis or CVS, when a parent is a carrier of the disease? 7

a. Pernicious anemia b. Beta thalassemia b. Cystic fibrosis d. Tay-Sachs disease Answer: a. Excluding pernicious anemia, all of the above genetic diseases are tested for through CVS or amniocentesis should the parents be carriers and want to know the genotype of their affected fetus. 7. Which genetic disease in the family is usually autosomal dominant? a. Cystic fibrosis b. Polycystic kidney disease c. Metabolic diseases d. Hemophilia Answer: b. All of the above are autosomal recessive excluding polycystic kidney disease, which is autosomal dominant. 8. What is the most important thing to discuss when talking about previous pregnancies with a new mom? a. Previous drug use in other pregnancies b. Previous gestational diabetes c. History of psychiatric disease in pregnancy d. History of perinatal deaths in previous pregnancies Answer: d. The finding of prior perinatal deaths is important and may indicate an undiagnosed genetic disorder in the family. 9. The use of which drug is least important when discussing the infant’s prenatal exposure? a. Lithium b. Acetaminophen c. Alcohol d. Cocaine Answer: b. The use of acetaminophen is safe during pregnancy, but the others carry risks to the fetus and newborn and should be asked about. 10. Why should the APGAR Scores be asked about at the time of a newborn history? a. Because they indicate the gestational age of the infant. b. Because they can predict long-term neurological outcome. c. Because they can be low in febrile illnesses. d. Because they indicate the probability of congenital defects. Answer: b. Low APGAR scores after 5-10 minutes can predict long-term neurological outcomes.