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Genetics in the NICU Approach to the Infant with Birth Defects

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A woman can do everything her doctor recommends to deliver a healthy child and still have a baby with a birth defect. In fact, according to the March of Dimes, ... – PowerPoint PPT presentation

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Title: Genetics in the NICU Approach to the Infant with Birth Defects


1
Genetics in the NICU Approach to the Infant with
Birth Defects
  • Robert Wallerstein, MD
  • Director, South Bay Regional Genetics Center
  • Santa Clara Valley Medical Center

2
  • Birth defects are defined as abnormalities of
    structure or function, that are present at birth.
  • Major birth defects are abnormalities that lead
    to developmental or physical disabilities or
    require medical or surgical treatment.

3
  • There are more than 7,000 different known birth
    defects, ranging from minor to serious, and
    although many can be treated or cured, they're
    the leading cause of death in the first year of
    life.
  • The most common type of major structural defects
    are heart defects, which affect 1 in 150 babies
    in the United States.
  • Other common structural defects include spina
    bifida, cleft palate, clubfoot, and congenital
    dislocated hip.

4
  • According to the March of Dimes, about 150,000
    babies are born with birth defects each year in
    the United States.
  • The American College of Obstetricians and
    Gynecologists (ACOG) says that 3 out of every 100
    babies born in the United States have some kind
    of major birth defect.
  • Birth defects can be caused by genetic,
    environmental, or unknown factors. For most birth
    defects, the cause is believed to be an
    interaction of a number of genetic and
    environmental factors.

5
Causes
  • Most babies with birth defects are born to two
    parents with no obvious health problems or risk
    factors.
  • A woman can do everything her doctor recommends
    to deliver a healthy child and still have a baby
    with a birth defect.
  • In fact, according to the March of Dimes, about
    60 of birth defects have unknown causes. The
    rest are caused by environmental or genetic
    factors, or some combination of the two.

6
Worldwide Birth Defects
  • 7.9 million children
  • 6 of total births
  • 3.3 million children under age of 5 die from
    birth defects annually
  • 3.2 million survivors may be diables for life

7
Worldwide status
  • 94 of serious birth defects
  • 95 of birth defect related deaths
  • Occur in middle and low income countries due to
  • Differences in maternal health
  • Consanguinity
  • nutrition

8
Birth Defects annually (2001 WHO data)
  • Congenital heart disease 1,040,835
  • Neural tube defects 323,904
  • Down syndrome 217,293

9
  • In the United States, fortification of food
    supply with folic acid
  • Has resulted in a 1/3 decline of neural tube
    defects
  • 400 million dollars saved annually in healthcare
    costs

10
Evaluation 9 criteria for genetics referral
Johns Hopkins Hospital
  • 1. Known or suspected hereditary disorder
  • 2. Major physical anomalies, unusual body
    proportion, short statire or dysmorphic features
  • 3. Major organ involvement
  • 4. Developmental delay
  • 5. Complete or partial blindness or hearing loss

11
Evaluation 9 criteria for genetics referral
Johns Hopkins Hospital
  • 6. Deterioration of skills in a previously
    thriving child
  • 7. Maternal exposure to drugs, alcohol or
    radiation during pregnancy
  • 8. Strong family history of cancer (not in NICU)
  • 9. Failure to thrive

12
History
  • Prenatal history

13
History
  • Birth history

14
History
  • Family History
  • 3 generation pedigree
  • For each family member-age, sex, medical status
    or cause of death
  • Specifically ask about family history of neonatal
    or childhood death, mental retardation,
    developmental delay, birth defects, seizures,
    known genetic disorders, ethnicity,
    consanguinity, infertility, miscarriages, and
    stillbirths

15
Dysmorphology Examination a quick guide
  • Eyes
  • Hypotelorism and hypertelorism
  • Philtrum
  • Long, short, or flat
  • Ears
  • Ear pitsor tags
  • Low set or posteriorly rotated

16
  • Jaw
  • micrognathia
  • retrognathia
  • Hands and Feet
  • Abnormal hand creases
  • 5th finger clinodactyly
  • Syndactyly
  • Polydactyly

17
  • Bone lengths
  • Rhizomelic shortening
  • Proportionate dwarfism
  • Upperlower segment

18
Classification
  • Definitions
  • Syndrome-a set of symptoms occurring together
    from a single cause
  • Malformation-a deformity in the shape or
    structure of a part
  • Deformation -a major difference in the shape of
    body part caused by an outside force

19
  • Isolated findings vs. syndromic findings

20
Laboratory tools
  • Imaging studies
  • Brain MRI
  • Echocardiography
  • Abdominal ultrasonography
  • Skeletal survey
  • Ophthalmologic examination

21
Genetic Diagnostic tests
  • Chromosomes
  • FISH
  • Chromosome micro array (CGH)
  • DNA analysis
  • Biochemical analysis

22
Indication for chromosome studies
  • Two major
  • or
  • one major and two minor malformations
  • (include small for gestational age and
    developmental delay as major)
  • Features of a specific chromosome syndrome
  • At risk for a familial chromosome aberration
  • Ambiguous genitalia

23
Trisomy 21
  • Incidence 1660
  • Features Presence of 6 of 10 cardinal features
  • Hypotonia
  • Poor Moro reflex
  • Hyperextensibility
  • Excess skin on the back of the neck
  • Flat facies
  • Slanted palpebral fissures
  • Anomalous auricles
  • Pelvic dysplasia
  • Dysplasia of midphalanx of 5th finger
  • Single transverse palmar crease

24
Trisomy 21
  • Natural history
  • Cardiac defects 50
  • GI atresias 12
  • Mental retardation 100
  • Leukemia 1
  • Thyroid disease 15
  • Hearing loss 75
  • Serous otitis media 50-70
  • Eye disease 60

25
Trisomy 18
  • Incidence 13,000 with 31 female preponderance
  • Featuresclenched hand with index finger
    overlapping third and fifth fuinger overlapping
    fourth, IUGR, decreased fetal activity,low-arch
    dermal ridge pattern, inguinal or umbilical
    hernia, cardiac defects, prominent occiput, low
    set ears, micrognathia, rocker bottom feet

26
Trisomy 18
  • Natural history
  • Apnea
  • Severe failure to thrive
  • 50 die by one week
  • 90 by 1 year
  • Profound mental retardationin survivors

27
Trisomy 13
  • Incidence 15,000
  • Features
  • Holoprosencephaly
  • Polydactyly
  • Scalp skin defects
  • Seizures
  • Deafness
  • Microcephaly
  • Sloping forehead
  • Cleft lip and palate
  • Retinal anomalies
  • Microphthalmia
  • Abnormal ears
  • Single umbilical artery
  • Inguinal hernia
  • Omphalocele
  • Cardiac defects
  • Urinary tract malformation

28
Trisomy 13
  • 44 die within 1 month
  • gt70 with 1 year
  • Profound mental reatrdation in survivors

29
45,X Turner Syndrome
  • Incidence 15,000
  • Features
  • Short female with broad chest
  • Wide spaced nipples
  • Webbed neck
  • Congenital lymphedema
  • Gonadal dysgenesis 90
  • Renal anomalies 60
  • Cardiac defects 20
  • most commonly coarctation of the aorta
  • Hearing loss 50

30
45,X
  • Natural history
  • Infertility
  • Normal lifespan
  • Mean IQ 90
  • Short stature

31
Treatment and Prognosis
  • Support
  • Evaluation
  • Medical management
  • Surgical intervention
  • Genetic counseling
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