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MATERNAL/NEWBORN & NICU FELLOWSHIP

COMMON CONGENITAL ANOMALIESPresented by

Peg Peterson APRN

CONGENITAL-EXISTENCE AT OR BEFORE BIRTH

Congenital anomalies are also known as:• Birth Defects

• Congenital Disorders

• Congenital Malformations

Structural/Anatomical• Heart Defects

• Club Foot

• Cleft Lip or Palate

Functional•Metabolic Disorders

Chromosomal• Down’s Syndrome

KEY FACTS

•An estimated 303,000 newborns die within the first 4 weeks of birth every year, worldwide, due to congenital anomalies

•Congenital anomalies can contribute to long term disability, which may have significant impacts on families, individuals, health care systems and societies

•The most common severe congenital anomalies are heart defects, neural tube defects and Downs syndrome

•Congenital anomalies maybe the result of one or more genetic, infectious, nutritional, or environmental factor

•Difficult to identify the exact cause

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CAUSES AND RISK FACTORS

50% of all congenital anomalies cannot be linked to a specific cause

•Genetic Factors• Inherited genes that code for a specific anomaly

• Result of a mutation

• Consanguinity

• Increases genetic anomalies, doubles risk of neonatal and childhood death

• Ethnic

• Ashkenazi Jews and Finns-Cystic Fibrosis, Hemophilia C

• Socioeconomic Factors

•Environmental Factors

•Infections

•Maternal Nutritional Status

PREVENTION

Some congenital anomalies can be prevented•Vaccinations

• Congenital rubella

• Heart problems, microcephaly, premature birth, stillborn, miscarriage

•Adequate intake of folic acid• Neural tube defects

•Adequate iodine intake• Neural development

•Adequate antenatal care• STD treatment

• Pre-conception counseling

• Zika Virus

• Environmental chemicals/pesticides

• Work related

CONGENITAL HEART DEFECTS

•Occur in about 1 in 110 births

•An Anatomical Abnormality

•Prenatal Diagnosis•Cardiac development happens at 8 weeks gestation

•Defects are classified as Cyanotic/Non Cyanotic

•Most common anomaly is Ventral Septal Defect (VSD)

•28% of children with CHD have another recognized anomaly (trisomy 21, 13, 18)

•Children can become symptomatic any time in first year of life

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CONGENITAL HEART DEFECTS

Symptoms•Tachycardia

•Tachypnea

•Murmur

•Failed Congenital Heart Disease Screening

•Cyanosis

•Cool clammy skin

•Metabolic Acidosis

•Failure to Thrive

CONGENITAL HEART DEFECTS

Increased Pulmonary Blood Flow

• PDA

• ASD

• VSD * most common

• AV Canal

Decreased Pulmonary Blood Flow

• PS

• TOF

• TGV

• Truncus

Decreased Systemic

Blood flow

• AS

• HLHS

• CoA

Classification

of CHD

NORMAL HEART

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PATENT DUCTUS ARTERIOSUS (PDA)

Failure to close after birth (usually closes first 12 hours after birth)

Signs/Symptoms Asymptomatic is ductus small

Can present with murmur on day 3 – 4

Wide pulse pressures

Bounding pulses

Medical Management O2 administration closes the PDA

Assess for murmur on day 3 -4

Monitor pulses, fluid, and respiratory status

May need addition PEEP

Indomethacin, Ibuprofen

Surgical ligation

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

ATRIAL SEPTAL DEFECT (ASD)

Hole in the muscular wall (30% will close on their own within 6 months)

Signs/Symptoms Usually asymptomatic

May hear murmur

Wide pulse pressures

Bounding pulses

Medical Management Assess for murmur on day 3 -4

Monitor pulses, fluid, and respiratory status

Restrict fluids, increase calories

Treat CHF if developed (rare)

Surgical repair done at school age

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

VENTRAL SEPTAL DEFECT (VSD)

Hole between ventricles (*most common CHD)

Signs/Symptoms Asymptomatic is small

Produces left to right shunt

Murmur

May have signs of CHF and FTT

Medical Management Depends on severity

Digoxin / diuretics

Increased calories

Most close spontaneously at school age

Surgical repair if not spontaneously closed by school age

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

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ENDOCARDIAL CUSHION DEFECT (AV CANAL)

ASD, high VSD, and anomalies to tricuspid and mitral valves (may be partial or complete) 30 – 40% have Downs Syndrome

Signs/Symptoms

Murmur

FTT

CHF at about 4 -12 weeks

Medical Management

Treat CHF

Surgical repair at 3 – 6 months

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

PULMONARY STENOSIS (PS)

Obstructed RV outflow tract

Signs/Symptoms

Asymptomatic if mild

Murmur

Desaturations

Medical Management

Monitor pulmonary status

May require prostaglandins

Balloon valvuloplasty

Surgical repair at 1 – 4 years

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

TETRALOGY OF FALLOTCYANOTIC - DECREASED PULMONARY BLOOD FLOW

Four different defects (*most common cyanotic heart defect)

Signs/Symptoms 1/3 of infants are cyanotic (“pink” vs “blue”

depends on severity of PS

Harsh murmur

Increased RR, decreased pules, mottling of skin, polycythemia, metabolic acidosis

Often see boot-shaped heart on CXR

Medical Management Knee to chest position to increase SVR and venous

return

May require prostaglandins (‘blue” tets)

Surgical repair not before 6 months

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

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TRANSPOSITION OF GREAT ARTERIESCYANOTIC - DECREASED PULMONARY BLOOD FLOW

Most common cause of cyanosis in the newborn period (1:3300 US births)

Signs/Symptoms Will become symptomatic when ductus closes

(between 1 day – 1 week) *need mixing

50% do not have murmur

Cyanosis with crying

Tachypnea

CHF

Medical Management Prostaglandins

Monitor O2, too much will close ductus

Maintain NTE

Surgical repair done in first two weeks of life

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

TRUNCUS ARTERIOSUS (TA)

Persistence of fetal structure (single outlet). There is always a large VSD

Signs/Symptoms

May be cyanotic

CHF

Medical Management Monitor and treat CHF

Surgical repair

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

AORTIC STENOSIS (AS)

Obstruction of aortic valve (blood not getting out to the body)

Signs/Symptoms

Murmur

Decreased pulses

CHF

Medical Management

Monitor and treat CHF

May require immediate surgical repair

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

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HYPOPLASTIC LEFT HEART SYNDROMECYANOTIC - MIXED BLOOD FLOW

Includes varying degrees of MV atresia,

hypoplastic LV, AS, and hypoplasia of the aorta. (*most common cause of death from cardiac defects in the first month of life)

Signs/Symptoms

Murmur

Cyanosis, tachypnea, tachycardia, poor peripheral perfusion, metabolic acidosis

Medical Management

3 options – Norwood, transplant, or no treatment

Prostaglandins

3-stage surgical repair

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

COARCTATION OF THE AORTA (COA)

Narrowing of aorta (diminished blood to lower extremities)

Signs/Symptoms Murmur

Upper extremity BP greater than lower

Pulse discrepancies

Decreased urine output

CHF

Medical Management If suspected – 4 extremity BP

Prostaglandins

Monitor and treat CHF

May do balloon angioplasty

Surgical repair

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

CRITICAL CONGENITAL HEART DISEASE SCREENING (CCHD)

CCHD

•If baby is transferred back to M/B prior to 24 hrs of age, screening done by M/B

• In M/B – done between 36 – 48 hours of life

• In NICU – done prior to discharge

•Failed test needs echocardiogram

Screens for 7 different types of CHD

•Hypoplastic Left Heart Syndrome

•Pulmonary Atresia

•Tetralogy of Fallot

•Total Anomalus Pulmonary Venous Return

•Transposition of Great Arteries

•Tricuspid Atresia

•Truncus Arteriosus

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CRITICAL CONGENITAL HEART DISEASE SCREENING (CCHD)

Negative Screen NORMAL

•O2 saturation ≥ 95% in right hand and foot

and

•O2 saturation ≤ 3% difference between right hand and foot

No further follow needed

Positive Screen ABNORMAL

•O2 saturation < 90% in right hand and foot

•NNP to assess / PCP notified

• Echocardiogram ordered

If O2 sat 90% - 95% and > 3% difference – repeat screening 1 hour after initial screen

OMPHALOCELE

Failure of the intestine to return from the umbilical cord into the abdominal cavity

• Covered in thin sac

• 1:5500 - 800 per year in US

• Look for midline defects

Contributing Factors

• Alcohol/Tobacco/SSRI use

•Obesity

Medical Management

• Protect organs, decompression of the gut, adequate hydration

• Thermoregulation

• Surgical repair vs scarring of sac

OMPHALOCELE

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GASTROSCHISIS

Defect in abdominal wall allowing bowel outside of abdominal cavity

• Protrudes thru hole beside umbilicus

• 2000 cases in US a year

• Poor abdominal growth

Contributing Factors

Medical Management

• Protect organs, decompression of the gut, adequate hydration

• Thermoregulation

•May require staged repair depending on size of defect (silo)

GASTROSCHISIS

TRACHEOESOPHAGEAL FISTULA (TEF)

Failure of trachea to differentiate and separate from the esophagus

S/S

• Maternal polyhydramnios

• Need for frequent oral suctioning

• Inability to pass ng/og

• Choking, spitting, cyanosis

Medical Management

• At risk for aspiration pneumonia

• Endotracheal suctioning

• Surgical anastomosis

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TRACHEOESOPHAGEAL FISTULA (TEF)

DUODENAL ATRESIA

Absence or complete closure of a portion of the lumen of the duodenum

• 1 in 6,000 – 10,000 live births

• Nearly half are premature or low birth weight

• 60 – 70% have associated anomalies (trisomy 21, malrotation, TE, CHD, imperforated anus, VACTERL, renal anomalies)

S/S

• Maternal polyhydramnios (significant risk factor)

• Bilious vomiting

• Failure to pass meconium

• Double bubble on xray

Medical Management

•Gastric decompression (NG suction), hydration, management of electrolytes

• Surgical repair

DUODENAL ATRESIA

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IMPERFORATE ANUS

Cause unknown, occurs 1 in every 20,000 live births

• Broadly classified as high or low depending on relationship to the distal rectal pouch

•½ of babies have a fistula

Medical Management• Colostomy required for decompression

• Serial dilations for anal stenosis

• Surgical repair

• “Pull through” procedure at a year of age

CLEFT LIP AND PALATE

Anatomical abnormality at 7th week of gestation (cleft lip is the most common US isolated

defect). May be associated with syndromes

• 1 in 700 Caucasian babies, more frequent in Asian population, less frequent in African Americans

• More common in IDM/Tobacco abuse

• Valporic Acid use

Medical Management

• Surgical Repair of lip-3 months, palate repair 6-12 months

• Feeding difficulties most common problem

• Feed in sitting position

• Special bottles

• Breastfeeding slow to establish-pump and bottle feed until repair

• Speech Pathologist / Dental followup

CLEFT LIP AND PALATE

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CHROMOSOMAL BIRTH DEFECTSTRISOMY 21 / DOWN SYNDROME

TRISOMY 21

Most Common Multiple Congenital Anomaly Syndrome that is diagnosed in Neonatal period

• 1:650 live births

•Mortality linked to Congenital Heart

Disease/Leukemias

• 50% have CHD

• Hirschsprung’s Disease

• Imperforate Anus

• Atresias

TRISOMY 21

Clinical Presentation• Hypotonia

• Excess skin at nape of neck

• Flattened nose, upward slanting eyes

• Small ears and mouth

• Wide, short hands / fingers, Simian crease, wide space between first and second toes

• Separated joints between the bones of the skull

• Protrusion of tongue

• White spots on the colored part of eye

Medical Management• Feeding support

• Developmental and education support

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CHROMOSOMAL BIRTH DEFECTS

TRISOMY 13

•Most do not survive beyond 2 days (mean life expectancy is 130 days)

•Occurs 1:12,000 births

Clinical Presentation• Weak cry

• Microcephaly with sloping forehead

• Dysplastic ears, micrognathia

• Cleft lip/palate

• Single umbilical artery common

• Growth deficiency

• Overlapping and flexed digits

TRISOMY 18

•Most do not survive beyond 2 days (mean life expectancy is 48 days)

•Occurs 1:5,000 births

Clinical Presentation• Holoprosencephaly, microcephaly

• Small absent eyes, low set ears

• Cleft lip/palate

• Single umbilical artery common

•Growth deficiency

•Overlapping digits

• Club/Rocker bottom feet

GOMELLA, 2016

NEURAL TUBE DEFECTSMYELOMENIGOCELE

Spinal cord and meninges are exposed through the skin and onto the surface of the back• Occurs in about 1:2,000 births

• Prevents backbone from closing completely

• Folic acid has decreased incidence by half

Medical Management• C-section delivery

• Keep infant prone

• Thermoregulation

• Repair first 48 hours

NEURAL TUBE DEFECTS

MENIGIOCELE

•Protrusion of the meninges

•Fluid filled sac

•No nerve involvement

SPINA BIFIDA OCCULTA

•Gap in spine only

•Involves vertebral bone and is invisible

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MICROCEPHALY

Head circumference less than 3rd% for gestational age• Poor brain growth

• Can be isolated finding

• 2-12:10,000 US births

• Viral-TORCH

• Blood flow interruption

Complication• Seizures

• Developmental Delays

• Hearing/Vision

• Feeding problems

•Outcome depends on severity

HYDROCEPHALUS

Excess amounts of CSF in ventricles of brain (blockage, decreased reabsorption, increase production)

• 1 -2: 1,000 live births

• Dandy-Walker cyst / Arnold-Chiari Malformation

• Congenital infection (rubella)

S/S• Large head, widened sutures

• Full/ buldging fontanels

• Increasing head circumference

• Setting-sun eyes

Medical Management• Cranial ultrasound/ CT

• Careful positioning

• Shunt placement

• Serial taps

HYDROCEPHALUS

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REFERENCES

• Barfield, W. (2016) Late Preterm Infants. In Kim, M. (ed.), UpToDate. Retrieved from http://www.uptodate.com/home

• Karlsen, K., (2013). The s.t.a.b.l.e. program: guidelines for neonatal healthcare providers (6th ed). Salt Lake City, UT: Karlsen.

•Gardner, S. L., Carter, B. S., Hines, M. E. & Hernandez, J. A. (2016). Merenstein & gardner’s handbook of neonatal intensive care (8th ed.). St Louis, MO: Elsevier.

•Gomella, T., Cunningham, M. & Eyal, F. (2016) Neonatology: Management, procedure, on-call, problems, diseases, and drugs, 6th ed. New York, NY: The McGraw Hill Companies, Inc.

•Gomella, T. L. (2013). Neonatology: Management, procedures, on-call problems, diseases, and drugs (7th ed). New York, NY: McGraw Hill Education LLC.

•Verklan, M. T. & Walden, M. (2015) Core curriculum for intensive care nursing (5th ed). St. Louis, MO: Elsevier.

• http://www.marchofdimes.org/professionals/information-for-your-patients.aspx

• http://search.who.int/search?q=congenital+anomalies&ie=utf8&site=who&client=_en_r&proxystylesheet=_en_r&output=xml_no_dtd&oe=utf8&getfields=doctype