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Anna and louise > Fetal and neonatal > Flashcards

Fetal and neonatal Flashcards

1
Q

Newborn blood spot test / Guthrie card

A

Screening for conditions in which early treatment can improve health and prevent severe disability or death
>20 rare but potentially serious conditions

Usually at 48h of age

Conditions screened for:

  • amino acid disorders (eg, phenylketonuria (PKU) and maple syrup urine disease)
  • fatty acid oxidation disorders (eg, MCAD)
  • congenital hypothyroidism
  • cystic fibrosis
  • congenital adrenal hyperplasia
  • galactosaemia
  • biotinidase deficiency
  • severe combined immunodeficiency (SCID)
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2
Q

Apgar score

A

0-2

Activity = muscle tone

Pulse

Grimace = reflex irritability

Appearance = skin colour

Respirations

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3
Q

Incidence and risk factors for birth injuries

A

6-8 injuries per 1000 live births

Factors predisposing to birth injury:

- Prima gravida
- CPD, small maternal stature, maternal pelvic anomalies
- Prolonged or rapid labour
- Deep transverse arrest 
- Oligohydramnios
- Abnormal presentation
- Midcavity forceps or vacuum 
- Very low BW or extreme prematurity
- Macrosomia
- Large fetal head
- Fetal anomalies
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4
Q

Why newborns are susceptible to hypothermia

A

Increased body surface area to weight ratio –> augmenting heart loss
Thin skin
Little subcut fat
Rely on non-shivering thermogenesis, therefore limited capacity to generate heat

Preterm infants - have less brown fat

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5
Q

Incidence of neonatal jaundice

A

~60% of term babies, 80% of preterm babies develop jaundice in the first week of life

10% of breastfed babies are still jaundiced at 1 month

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6
Q

Pathophysiology of jaundice

A

Breakdown of RBC and Hb –> accumulation of unconjugated bilirubin
Unconjugated bilirubin binds to albumin –> transported to the liver –> converted to conjugated bilirubin
Conjugated bilirubin is water soluble –> eliminated via urine and faeces

Unconjugated bilirubin is lipid soluble
- Can cross the blood-brain barrier

Bilirubin acts as a scavenger of free radicals which are high after birth
More common in SGA and IUGR babies
- Because they frequently have a degree to polycythaemia

In young babies

  • Lifespan of RBCs is shorter
  • Hb concentration is higher at birth and falls rapidly during the first few days of life
  • Immaturity of enzymes in the liver impairs bilirubin conjugation and excretion
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7
Q

Jaundice within first 24h

A

Always pathological

Haemolytic disease of the newborn
Rhesus disease
ABO incompatibility
Minor blood group incompatibility
G6PD deficiency
Hereditary spherocytosis
Congenital infections
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8
Q

Causes of jaundice presenting 24h to 2 weeks

A 
Physiological
Breast milk jaundice
Haemolytic
Infection
Bruising 
GI obstruction 
Polycythaemia
Metabolic disorders
Liver enzyme defects
Late onset (>7-10 days) should be evaluated 
- Unlikely to be physiological
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9
Q

> 3 weeks old - prolonged jaundice - causes

A

Unconjugated

  • Breast milk
  • Hypothyroidism

Conjugated (>20%)

  • Neonatal hepatitis syndrome
  • Biliary atresia
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10
Q

Treatment of jaundice

A

Most do not need treatment
Phototherapy (blue-green light)
Exchange transfusion

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11
Q

PERSISTENT DUCTUS ARTERIOSUS (PDA)

A

Persistent communication between the descending thoracic aorta and the pulmonary artery
Functional closure usually occurs in the first few hours of life in infants born at term

Contributing factors to PDA in preterm infants:

  • Immaturity of the smooth muscle structure
  • Inability of the immature lungs to clear circulating prostaglandins

Treatment:

  • Prostaglandin inhibitors (ibuprofen, indomethacin, paracetamol)
  • Surgical ligation
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12
Q

Definition of hydrops fetalis

A

Abnormal fluid collections in at least 2 fetal serous cavities

- Ascites
- Pleural effusions
- Pericardial effusions
- Skin oedema (>5mm)

May be associated with polyhydramnios and placental thickening

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13
Q

Pathophysiology of hydrops fetalis

A

Obstructed lymphatic drainage in the thoracic and abdominal cavities
Increased capillary permeability
Increased central venous pressure
Decreased osmotic pressure

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14
Q

Causes of hydrops

A 
Cardiovascular abnormalities 
- Up to 40% of NIHF
-Structural anomalies
- Arrhythmias
- Thoracic or Vascular abnormalities 
Aneuploidy	
- Turner syndrome 
- Trisomy 21, 13, 18 and 12
- Mortality rate approaching 100%

Anaemia

Infection

  • Parvovirus B19
  • CMV
  • Toxoplasmosis
  • Syphilis

Twins
Placental and umbilical cord lesions

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15
Q

Hx / Investigations for hydrops

A 
Detailed fetal USS and ECHO
MCA-PSV
Detailed FHx (three generations)
- Consanguinity 
PMHx - SLE (anti-Ro), Graves, meds
Infection exposure

Bloods

  • G&H, Antibody screen
  • FBC and film screen for thalassaemia
  • Kleihauer
  • TORCH (parvo, CMV, toxo, syph)

Amnio

  • Karyotype
  • Testing for infection

Baseline BP and urine for mirror syndrome

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16
Q

Management of hydrops

A

Overall perinatal mortality rate 50-98% with NIHF
- Depends upon the aetiology, gestational age at onset and delivery, whether pleural effusions are present

Management depends on the condition, as does recurrence risk
Severe anaemia can be treated with in utero blood transfusion
Expedite delivery if appropriate gestation
Offer TOP
Consider CS

Monitor for PET, mirror syndrome
Recommend autopsy and genetics

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17
Q

Mirror syndrome definition

A

Condition of generalised maternal oedema, often with pulmonary involvement
Mirrors the oedema of the hydropic fetus and placenta

Usually a/w NIHF

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18
Q

Presentation and investigations of mirror syndrome

A

Rapid weight gain, increasing peripheral oedema, progressive SOB
May present like PET

Hct often low
Polyhydramnios
Fetal shows signs of hydrops

Overall rate of fetal death 56%

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19
Q

Management of mirror syndrome

A

Delivery to induce remission of maternal symptoms
- Prompt delivery usually required because women with severe features of PET can deteriorate rapidly

Interventions to reverse fetal hydrops
Selective feticide of hydropic twin

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20
Q

Vulnerable neonates for hypoglycaemia

A
  • Preterm (limited stores, higher metabolic demands due to relatively larger brain size)
    • SGA (Decreased hepatic glycogen stores)
    • Babies born to diabetic mothers
    • Birth asphyxia
    • Hypothermia
    • Sepsis
    • HDFN
    • Metabolic diseases
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21
Q

Mosaicism

A

arises from an error in mitosis that occurs any time after conception
Results in an individual having more than one cell line
This results in some cells having the correct amount of genetic material whereas others will have either an abnormal amount or a defective gene

Somatic mosaicism

  • Effect is dependent on the percentage of affected cells and where they are
  • As a general rule the phenotype will be milder than that seen with the pure condition
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22
Q

Autosomal dominant

  • what is it
  • examples
A

One normal allele and one mutated allele
Features can vary between members of the same family - variable expressivity
Reduced penetrance - some members appear unaffected
Can arise de novo from a new mutation
Key features:
- Condition affects every generation
- Male-to-female and female-to-male inheritance
- Affect both sexes equally

Adult polycystic kidney disease
Huntington's disease
Marfan's syndrome
Neurofibromatosis type 1 and 2
Tuberous sclerosis
Myotonic dystrophy
Achondroplasia
Ehlers-Danlos syndrome
vWD
BRCA1/2
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23
Q

Autosomal recessive

  • what is it
  • examples
A

Only manifest as the full phenotype when the individual is homozygous for the mutant allele
Not possible to trace autosomal recessive conditions through the family tree
Males = females

Cystic fibrosis
Phenylketonuria
Infantile polycystic kidney disease
CAH
Glycogen storage diseases
Sickle cell anaemia
Tay-Sachs disease
Wilson's disease
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24
Q

X-linked dominant

  • what is it
  • examples
A

Uncommon
Manifest in both male and heterozygote female
Resembles autosomal dominant pattern of inheritance except affected males transmit the condition to all of their daughters but none of their sons

Vitamin D-resistant rickets
Rett syndrome

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25
Q

X-linked recessive

  • what is it
  • examples
A

Usually only manifest in males
Females can occasionally exhibit if:
- Homozygous for mutant allele
- Women have a single chromosome (e.g. Turner syndrome)

Becker's muscular dystrophy
Haemophilia A and B
Duchenne muscular dystrophy
Fragile X syndrome
Red-green colour blindness
26
Q

Risk of Down syndrome based on age

also risk of recurrence

A

20y 1 in 1,500
30y 1 in 800
40 1 in 100
45 1 in 50 (or greater)

Majority arise from non-disjunction in meiosis (>95%)
- becomes more common with AMA

Chance of recurrence 0.5-0.75% above background risk
- Will significantly increase risk in younger, not older, women

27
Q

Aetiology of Edward syndrome

A

Majority arise due to maternal non-disjunction in meiosis
Trisomy 18

Incidence at birth 1 in 3000
- Higher at conception, but majority miscarry

Risk increases slightly with each added year of maternal age

28
Q

Features of Edward syndrome

A

Omphalocele
Abnormal posturing of the hands
Megacystis
Abnormal four-chamber view of the heart

IUGR
Polyhydramnios
Congenital heart disease (up to 80%)

Majority die within first year (90-95%)

29
Q

Incidence of Patau syndrome

A

Trisomy 13
1 in 5000
Associated with increased maternal age
Only 5% survive longer than one year

30
Q

Fragile X Syndrome

A

expansion or lengthening of the FMR1 gene on the X chromosome

Most common single gene cause of autism worldwide
Causes:
- Intellectual disability
- Behavioural and learning challenges
- Various physical characteristics
31
Q

Oesophageal atresia

A

Suspected when no fetal stomach seen and polyhydramnios.
If there is associated fistula then stomach may be seen
2/3 will have other associated abnormalities (part of VACTERL)
Karyotyping should be offered

32
Q

Duodenal Atresia

A

Double bubble and polyhydramnios on scan - distended stomach and duodenum
Not usually detected at anatomy but in third trimester
30% chance of T21 and high incidence of other abnormalities

33
Q

What is gastroschisis

- prognosis

A

Free floating loops of bowel without a covering membrane
Caused by right paraumbilical defect, thought to be related to vascular compromise during embryonic development
Chromosomal abnormalities are rare
Can be associated with IUGR (20%) and IUFD (10%)
May have high AFP

Good prognosis - 90-100% survival

34
Q

omphalocele

  • what is it
  • prognosis
A

Herniation of abdominal viscera into base of umbilical cord
Covered with membrane
Cord inserts in to the sac

Worse prognosis
Small omphalocele more likely to have chromosomal abnormalities
70-80% survival if isolated abnormality

35
Q

Management of gastroschisis or omphalocele

A 
Tertiary USS, exclude other anomalies
Amnio
- Recommended for omphalocele
- Risk of chromosome abnormalities is low if isolated gastroschisis
Consider discussing TOP for omphalocele

MFM & Paeds Surg input
Serial USS
- More intensive monitoring from 32 weeks for gastroschisis due to increased risk of stillbirth

Intrapartum

  • Deliver in tertiary centre
  • Aim for vaginal birth
  • consider IOL at 37 wks for gastroschisis (due to risk of stillbirth)
  • Neither an indication for CS (unless large omphalocele)

Paediatricians present

  • cover bowel
  • NG
  • IV fluids and antibiotics
  • NBM
36
Q

Diagnosis of echogenic fetal bowel

A

Increased brightness of the fetal bowel on second trimester USS

echogenicity similar to or greater than that of adjacent fetal bone

1% at second tri
Common finding in third
- Reflects normal fetal physiology - meconium is present in the colon and can be echogenic

37
Q

Causes of echogenic fetal bowel

A

If isolated finding, prognosis usually good
- 80-90% normal

Some types of aneuploidy - T21
Cystic fibrosis
Intra-amniotic bleeding, e.g. post-amniocentesis, placental abruption 
CMV
Toxo
IUGR
Primary GI pathology
38
Q

Management of echogenic fetal bowel

A 
Detailed fetal USS by MFM
MFM referral
History
Offer CF carrier screening 
Maternal serologies for CMV, toxoplasmosis 
Fetal genetic assessment with cfDNA
Offer amniocentesis for genetic testing 
- Echogenic bowel is present as an isolated finding in 4-25% of fetuses with aneuploidy

Pregnancy monitoring

  • Monthly growth scans
  • Presence of echogenic bowel (both isolated and when present with other anomalies) has been associated with IUGR and IUFD
39
Q

Congenital diaphragmatic hernia

- about

A

Congenital defect in diaphragm causing herniation of abdominal viscera into chest
90% will be left posterior

20% risk of aneuploidy so should offer amniocentesis
28% has associated cardiac anomaly

Overall survival is 30-70%
Morbidity and mortality depends on pulmonary hypoplasia and pulmonary artery hypertension

40
Q

CONGENITAL PULMONARY AIRWAY MALFORMATION (CPAM)

A

Majority are small and do not cause problems for the fetus
Prognosis without hydrops is 100% survival
No need for chromosome testing if isolated
MFM to assess size

41
Q

Cystic Hygroma

A

Multi-septate fluid in soft tissues due to lymphatic drainage issue
Usually seen in neck
Associated with T21, 18 and Turners
High fetal loss rate 80-90%

42
Q

NECROTISING ENTEROCOLITIS

A

Ulcerative inflammation of the intestinal wall
Onset typically during first several weeks after birth

High mortality in premature infants
- Up to 40%

43
Q

Neonatal encephalopathy

A

Clinically defined syndrome of disturbed neurological function within the first week of life, manifested by difficulty in initiating and maintaining respiration, depression of tone and reflexes, subnormal level of consciousness and often seizures (PMMRC)

44
Q

Hypoxic-ischaemia encephalopathy

A

NE + convincing evidence of ante- or intra-partum hypoxia

45
Q

INTRAVENTRICULAR HAEMORRHAGE

  • incidence
  • aetiology
  • risk factors
A

15-20% of neonates born <32/40
Uncommon in term infants

Predisposing factors:

  • Ischaemia / reperfusion
  • Fluctuations in cerebral blood flow
  • Increase in the cerebral venous pressures

Risk factors

Maternal:
- Infection / inflammation
- Haemorrhage
Lack of AN steroids
External factors:
- Mode of delivery
- Neonatal transport
46
Q

Open NTDs

A

80% of NTDs
Defect only covered by a membrane or, rarely, nothing at all
Myelomeningocele (spina bifida)
- varying degrees to neurological impairment, depending on the level
- Can impair cognitive function, depending on associated ventriculomegaly or associated genetic syndrome
Meningocele
Myelocele
Encephalocele
Anencephaly - Absence of brain and lack of the cranial vault

47
Q

Risk factors for NTD

A

The risk of recurrence for isolated NTDs is approximately 2-4% with one affected sibling
- With two affected siblings, the risk is ~10%

Folate deficiency
Genetic factors
Syndromes - 5-7% rate of aneuploidy 
Amniotic bands
Fever / hyperthermia in the first trimester 
Pre-gestational diabetes
Poorly controlled DM has been associated with NTDs
Obesity - 2-fold increased risk
Sodium valproate
Alcohol
48
Q

USS features of spina bifida

A

U-shaped vertebrae
Cystic sac may be visualised if myelomeningocele

Fetal head findings

  • Lemon sign
  • Banana sign
  • Hydrocephaly

May have obvious disruption of the fetal skin contours
Arnold-Chiari type II malformation = Presence of both indirect cranial findings and a spinal defect

49
Q

Choroid plexus cysts

A

Small fluid-filled structure within the choroid of the lateral ventricles of the fetal brain
Common sonographic finding during the second trimester
- Usually small (<1cm), sonolucent, well-defined borders
Isolated choroid plexus cysts are considered a variant of normal

Fetuses with choroid plexus cysts and additional anomalies are at increased risk of chromosomal abnormalities, especially trisomy 18

50
Q

Cerebral palsy

- define

A

Group of disorders that can involve brain and nervous system functions such as movement, learning, hearing, seeing, thinking

Permanent
Non-progressive - although clinical expression may change over time as the brain matures

51
Q

CP incidence

A

2 cases per 1000 live births

Incidence decreases with increasing gestational age
- 25% of all cases of CP born at <34/40
Increases with decreasing birth weight
More than half of CP cases are born at term

0.1% at term
15% at 22-27 weeks

70% of CP is due to non-birth events , 10% is acquired after birth

Perinatal hypoxia or ischaemia = <10% of CP in term or near term infants
- Infants with CP caused by an acute intrapartum hypoxic-ischaemic event are more likely to have spastic quadriparesis or dyskinetic CP

52
Q

Prognosis with HIE

A

GRade 1 = good prognosis and intact survival
GRade 2 = 5% mortality, 25% neurological morbidity
Grade 3 = BAD
- >50% die, intact survival minimal

53
Q

Therapeutic hypothermia

A

Lower body temp to 33-34 degrees for 72h, then slowly rewarm to normothermia

Eligible if:

  • > 36/40
  • <6h old
  • Fulfil criteria related to both their condition at birth and their neurological status

Total body cooling reduced the rate of neurodevelopmental disability in survivors

54
Q

RESPIRATORY DISTRESS SYNDROME

Aka hyaline membrane disease

A

Almost exclusively a disease of prematurity
deficiency of surfactant –> atelectasis, ventilation perfusion mismatch and hypoventilation

Treatment

  • Antenatal steroids
  • Early use of CPAC
  • Early administration of surfactant
  • Once RDS is established, it typically runs its course over 7 days or so
55
Q

TRANSIENT TACHYPNOEA OF NEWBORN (TTN)

A

Most common cause of respiratory distress in term infants
Caused by delayed clearance of fetal lung fluid

Self-resolving disorder
- Usually within 24-72h
Treatment = supportive
Dx of exclusion

56
Q

criteria (essential and suggestive) that define an acute intrapartum hypoxic event in the context of an infant that was born at term and subsequently diagnosed with CP

A

ESSENTIAL
Fetal umbilical artery acidaemia
- pH <7.0 or base deficit >12 mmol/L, or both
Spastic quadriplegia or dyskinetic cerebral palsy
Early onset of severe or moderate neonatal encephalopathy in infants of >34/40
Exclusion of other identifiable aetiologies
- e.g. trauma, coagulation disorders, infectious conditions, genetic disorders

SUGGESTIVE
Apgar score of <5 at 5 minutes and 10 minutes
CTG - Sudden and sustained bradycardia
Early evidence of multi-organ involvement
Early evidence of cerebral imaging abnormalities
Sentinel hypoxic event intrapartum, e.g. cord prolapse

57
Q

Magnesium sulfate for neuroprotection
Indications:
Timing

A

Indications:

  • Gestational age <30/40
  • Early preterm birth is planned or expected within 24h
  • When birth is planned commence MgSO4 as close to 4h before birth as possible

4g IV bolus MgSO4 over 20 mins, followed by IV infusion of 1g per hour until the birth or for 24h

Timing

  • Minimum of four hours before birth
  • However administer even if likely to delivery earlier as likely will still benefit

Administer regardless of:

  • Plurality (number of babies in utero)
  • Reason at risk of PTB
  • Parity
  • Anticipated mode of birth
  • Whether or not antenatal corticosteroids have been given

Do not delay urgent delivery for MgSO4 - e.g. APH, severe fetal distress

Repeat doses
- If PTB again appears imminent, and still <30/40, then can consider repeat dose at discretion of the attending health professional

58
Q

the pathophysiology of RDS.

A

Clinical diagnosis
Respiratory distress syndrome is due to lack of surfactant

Surfactant is a detergent-like lipoprotein produced by the fetal lungs from ~22/40
Reduces the surface tension within the alveoli, allowing the alveoli to remain open when the neonate initiates respiration
From 34-36 weeks, adequate surface is usually present
Without adequate surfactant, alveoli and respiratory bronchioles easily collapse due to high surface tension  atelectasis, ve ntilation perfusion mismatch and hypoventilation  hypoxaemia and hypercarbia

59
Q

benefits of antenatal administration of corticosteroids as per Cochrane for preterm birth

A

Reduced respiratory distress syndrome – 34%
Reduced need for mechanical ventilation / CPAP
Reduced perinatal death – 28%
Reduced incidence of necrotising enterocolitis
Reduced intraventricular haemorrhage – 45%
Fewer infants having systemic infection within the first 48h of life

60
Q

Treatment of RDS

A 
Initial resuscitation
- Keep baby warm and dry 
Admit to NICU
O2 therapy
CPAP – continuous positive airway pressure
- Helps keep the lungs / alveoli open
Intubation and assisted ventilation with PEEP (positive end expiratory pressure)
Administer surfactant

Consider

  • BSL monitoring +/- treatment of hypoglycaemia
  • Screen for infection +/- IV antibiotics
61
Q

MgSO4 and cerebral palsy

A

Significant reduction in CP/ moderate to severe CP / substantial gross motor dysfunction
No significant effect on perinatal mortality
30% reduction in CP
NNT 1 in 63
- Or 1 in 29 if <28/40
Increase in maternal hypotension and tachycardia / not other major outcomes

Anna and louise (28 decks)

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