Perinatal/Newborn Screening

Question 1

Prenatal History

Answer 1

-Prenatal care
-Xenobiotics: drugs, alcohol, nicotine
-Maternal health problems during pregnancy (BP, BG)
-Fetal health
-Mother’s feelings about pregnancy
-History of maternal infectious disease (HSV, HIV)

Question 2

Perinatal History

Answer 2

-Birth experience
-Complications during birth
-APGAR score

-Birth size/weight:
*Low Birth Weight (LBW): <2500 grams
*Very Low Birth Weight (VLBW): <1500 grams
*Extremely Low Birth Weight (ELBW): <1000 grams

Question 3

APGAR Score

Answer 3

-Part of perinatal history
-5 categories, 3 points each (0, 1, or 2 points) - Highest is 10 pts
-Recorded at 1 minute and 5 minutes after birth
-If the newborn scores a 7 at the 5 minute test, repeat APGAR every 5 minutes for 20 minutes or until the newborn scores greater than a 7 in 2 consecutive tests

-Appearance:
*2 = Normal color throughout
*1 = Acrocyanosis
*0 = Bluish-gray or pale

-Pulse:
*2 = >100 bpm
*1 = <100 bpm
*0 = Absent

-Grimace:
*2 = Pulls away, sneezes, coughs with stimulation
*1 = Facial movements only with stimulation
*0 = No movement, “floppy” tone

-Activity:
*2 = Active, spontaneous
*1 = Arms & legs flexed with little movement
*0 = No movement, “floppy” tone

-Respirations:
*2 = Normal rate and effort, good cry
*1 = Slow or irregular breathing, weak cry
*0 = Absent

Question 4

Newborn Assessment - Averages

Answer 4

-Average length = 20 in
-Average weight = 7.5 lbs
-Average head circumference = 13.5 in (measure up to 2 years of age)

Question 5

Newborn Assessment - Gestational age

Answer 5

-Gestational age:
*<37 weeks: Pre-term
*37-38 weeks: Early term
*39-40 weeks: Term (best health outcomes)
*41 weeks: Late term
*42 weeks or later: Post-term

Question 6

Newborn Assessment - Appropriate for Gestational Age, percentiles

Answer 6

-Appropriate for gestational age (AGA): Length, weight, and head circumference are between 10th and 90th percentile.

Question 7

Newborn Assessment - SGA and IUGR

Answer 7

-Intrauterine growth restriction (IUGR):
*Small for gestational age (SGA) - symmetric: <10th percentile in all categories - can be due to genetic issues, intrauterine issues (bacterial uterine infection, inborn errors or metabolism, and congenital or chromosomal abnormalities)
*Small for gestational age (SGA) - asymmetric: head circumference and length are within normal range, but weight is <10th percentile - usually happens due to acute fetal compromise after 24 weeks gestation - maternal HTN, pre-eclampsia, abruption, or residing at high altitudes

Question 8

Newborn Assessment - LGA

Answer 8

-Large for gestational age: weight >90th percentile - usually due to:
*Maternal diabetes
*Beckwith-Wiedemann syndrome: congenital growth disorder, large body size at birth and taller-than-average height during childhood, a large tongue, and hypoglycemia
*Hydrops fetalis: large amounts of fluid build up in a baby’s tissues and organs, causing extensive edema

Question 9

Newborn Assessment - Vital Signs

Answer 9

-Temperature: 97-98.6F - >100.4F = fever (38C)
-Pulse: 120-160 bpm
-RR: 30-60 breaths pm
-BP: SBP 67-84 mmHg, DBP 35-53 mmHg (BP screening started at age 3, unless there is cause for concern)

Question 10

Newborn Assessment - Skin

Answer 10

-Central vs. Peripheral Cyanosis
*Central cyanosis: normal skin, blue nails - usually indicates an underlying condition - also affects the mucous membranes
*Peripheral cyanosis: cold and clammy, only skin is affected - can improve with warmth

Question 11

Newborn Assessment - Skin

Answer 11

-Milia: pinpoint white papules on the face - spontaneously dissolve
-Miliaria: obstructed sweat gland - “prickly heat”
-Erythema toxicum (red blotches): most common newborn rash - usually appears by days 2-5 after birth, and disappears by day 14
-Cafe au lait spots: flat, subtle discoloration on flank - if more than 6 spots more than 5-6mm in size, consider neurofibromatosis (development of tumors that may affect the brain, spinal cord, and the nerves)
-Junctional nevi: large moles - if there are many, consider tuberous sclerosis (rare genetic disease that causes non-cancerous tumors to grow), or xeroderma pigmentosum (“dry skin”), or neurofibromatosis
-Mongolian spots: flat birthmark - common color is blue - benign and usually lightens over time - document all Mongolian spots, as they may be confused with abuse
-Port wine stain: can be benign or concerning for Sturge-Webber syndrome (serious neurological condition that can cause seizures, musculoskeletal weakness, developmental delays, glaucoma)
-Strawberry mark (hemangioma): raised, soft, red lumps - more common in premature babies - typically fade over time from the inside out - if they do not fade, they can be treated with BB drops (timolol)

Question 12

Newborn Exam - Neuro

Answer 12

-LOC, alertness
-Hypo/hypertonic - head should stay in place for 1-2 seconds
-Posture - Normal posture is flexion of arms and legs over trunk, hips abducted and partially flexed with knees flexed, arms abducted elbows flexed, and fists clenched
-Reflexes - must be symmetrical - asymmetrical reflexes can indicate neuro issues

Question 13

Newborn Exam - Primitive Reflexes

Answer 13

-All are present at birth, but it is important to know when they disappear

-Rooting: 4 months (turning of the head when stroking the cheek)
-Sucking: 2 months (can control sucking by this age - sucking anything that touches the roof of the mouth)
-Moro: 3-4 months (test by releasing the newborn’s head in order to observe the nervous system’s response to surprise - babies will either abduct or adduct their arms)
-Grasp (palmar, plantar): 5-6 months, 1-2 years
-Placing (stepping): 2-5 months
-Tonic neck: 3 months
-Babinski: 12 months or when walking (can be present until 2 years - stroke infant’s lower foot causes fanning of the toes)

Question 14

Newborn Exam - Head/Neck

Answer 14

-Caput succedaneum: crosses sutures - simple swelling, and resolves within 2-3 days
-Cephalohematoma: does not cross sutures - requires further exam - increased risk for hyperbilirubinemia because of blood pooling - usually caused by trauma during birth (vacuum delivery)
-Frontal bossing (protruding forehead): seen in premature babies and those with Ricketts disease (poor nutrition - think about places with poor nutrition is common)
-Microcephaly: small head, head circumference 2 SDs below the mean - genetic conditions like trisomy 21
-Macrocephaly: large head, head circumference 2 SDs above the mean - hydrocephalus

Question 15

Newborn Exam - Hair Patterns & Growth

Answer 15

-More than 1 whirl can indicate genetic abnormality
-White forelock and depigmentation can occur with deafness, developmental delay, or Waardenburg syndrome (group of genetic conditions that can cause hearing loss and changes in color of the hair, skin, and eyes)

Question 16

Newborn Exam - Fontanels

Answer 16

-Anterior fontanel (diamond-shaped): closes by around 18 months
-Posterior fontanel (triangular-shaped): may not be palpable at birth, closes by 1-2 months

-Should be flat and soft - if bulging, can indicate increased pressure/swelling (hydrocephalus, etc) - if sunken, can indicate dehydration

Question 17

Newborn Exam - Eyes

Answer 17

-Red reflex: If replaced by…
*White spot: retinoblastoma or cataracts
*Black spot: no pathway from lens to retina - congenital cataracts, corneal scar, or ocular hemorrhage
-Sclera: if deep blue, think osteogenesis imperfecta (brittle bone disease)
-Coloboma: “snake eyes”, slit in the middle of the eye
-Salt & pepper speckling: Brushfield spots (Trisomy 21)
-Heterochromia: Different colored eyes - not a concern

Question 18

Newborn Exam - Ears/Nose/Throat

Answer 18

-Pits or skin tags in front of the ears can indicate kidney disease
-Microstomia (small mouth): Trisomy 13 and 18
-Macrostomia (large mouth): mucopolysaccharidoses (group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans - sugar molecules)
*Fish mouth: Fetal alcohol syndrome - thin upper lip and smooth philtrum - triangular upper lip
-Cleft lip/palate: Check with gloved finger upon birth
-Epstein pearls: white-yellow cysts on the gums and roof of the mouth - not considered abnormal - usually revolve by 1-2 weeks

Question 19

Newborn Exam - Chin

Answer 19

-Micrognathia: lower jaw is smaller than normal - can indicate…
*Pierre-Robin Syndrome: rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction
*Treacher-Collins Syndrome: rare, genetic condition affecting the way the face develops — especially the cheekbones, jaws, ears and eyelids - often cause problems with breathing, swallowing, chewing, hearing and speech
*Hallermann-Streiff Syndrome: very rare genetic disorder that has a characteristic facial appearance, dental abnormalities, hypotrichosis, skin atrophy, proportionate short stature, and ophthalmic features including microphthalmia and congenital bilateral cataracts

-IMPORTANT TO CHECK AIRWAY-

Question 20

Newborn Exam - Neck

Answer 20

-Webbed Neck: Turner’s syndrome
-Lymph nodes: If present, not a good sign

Question 21

Newborn Exam - Pulmonary/Chest

Answer 21

-Assess for grunting or stridor

Question 22

Newborn Exam - Cardiovascular

Answer 22

-Brachial-femoral pulse delay: consider coarctation of the aorta - do pulse ox on all 4 extremities
-Heart murmurs may be present in 85%-90% of all newborns, but typically resolve and are not likely a concern

Question 23

Newborn Exam - Abdomen

Answer 23

-Flat abdomen is abnormal in babies, should have buddha belly (protruding) - flat abdomen can indicate malnutrition and IUGR
-Umbilical arteries and veins - 2 arteries and 1 vein
-Umbilical hernias can be present must usually resolve by 1 year - not a concern
-Diastasis recti may be present, usually resolved - not a concern

Question 24

Newborn Exam - Genitourinary

Answer 24

MALE
-Meatus: hypo/epispadias
-If uncircumcised, should be able to retract foreskin
-Testes: About 97% of babies have descended testes at birth - not a concern, unless they haven’t descended by 6 months

FEMALE
-Some discharge and bleeding is normal after birth - due to mother’s hormones passed on to baby

AMBIGUOUS GENITALIA
-Check genotype for karyotype to determine sex

Question 25

Newborn Exam - Musculoskeletal

Answer 25

-Developmental Dysplasia of the Hip (DDH)
*Ortolani: “click” is heard when pushing “down” - performed by abducting knees, then listening and feeling for the femoral head to re-enter the acetabulum
*Barlow’s: feeling of a slip when pulled “up” - performed by adducting the knees and feeling the femoral head pop out of the acetabulum

-Lower back should be examined:
*Sacral dimpling (not a concern unless they are >0.5cm or located more than 2.5cm from anal verge - can indicate neural tube defects)
*Tufts of hair or skin tags (can indicate spina bifida)

Question 26

Newborn Screening

Answer 26

-Sensitivity: + is +
-Specificity: - is -

Question 27

Newborn - Mandatory Screenings

Answer 27

-All 50 states require:
*PKU
*Galactosemia: allergy to milk
*Hemoglobinopathies:
*Congenital hypothyroidism

-Re-screen if babies were tested <24 hours after birth and if symptomatic

Question 28

Newborn - Considerations for Screening

Answer 28

-All babies need to have a hearing test before leaving the hospital
-Brainstem auditory evoked response (BSAER/BAER) = performed to help diagnose nervous-system abnormalities, hearing losses (especially in low-birth weight newborns), and to assess neurologic functions

-Inborn Errors:
*PKU: can lead to developmental delay, severe retardation, seizures (neuro issues)
*Galactosemia: liver dysfunction, coagulopathies - babies usually are hospitalized with sepsis, this is more commonly how they are diagnosed
*Hemoglobinopathies: sickle cell, thalassemia
*Hypothyroidism: needs to be treated with Synthroid, if not, can lead to neuro and metabolic abnormalities
*Fetal alcohol syndrome (FAS): irreversible, developmental delay - s/s small eye openings, thin upper lip, smooth philtrum, upturned nose, small head size - FTT, poor weight gain, and poor growth

-Cystic Fibrosis: “sticky disease” - thick mucus, leads to cysts and fibrosis in organs - s/s salty sweat, which mucus, frequent coughing or wheezing, greasy or pale-colored stools