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RANZCOG 2024 - Antenatal Edward > Fetal anomalies > Flashcards

Fetal anomalies Flashcards

1
Q

What are the soft markers for aneuploidy (5)

A

-Choroid plexus cyst
-Echogenic bowel
-Echogenic intracardiac focus
-Mild renal pelvis dilitation
-Mild cerebral ventricular dilitation

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2
Q

Discuss trisomy 21
-Incidence
-Age related incidence (at 20,30,40,45)
-Cause
-Features
-Prognosis

A
  1. Incidence
    -1:700
  2. Age related incidence
    -20 1:2000
    -30 1:900
    -40 1:100
    -45 1:30
  3. Causes
    -95% due to maternal non-disjunction during meiosis
    -3-4% due to balanced Robertsonian translocation
    -1% due to mosaicsm
  4. Features
    -Mental impairment 99%
    -Growth restriction 90%
    -Congenital heart defects 40%
    -GIT atresia
    -Multiple systems affected - opthalmic, MSK, Resp, Cardiac, GI, haematological, neuro, autoimmune
  5. Prognosis
    -Spontaneous miscarriage 25%
    -Life expectancy 50-60yr
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3
Q

Discuss Trisomy 21
-Screening sensitivity and specificity (4)
-Diagnosis
-Antenatal management
-Intrapartum management
-Risk of recurrence

A
  1. Screening
    -Age alone 40% sensitivity
    -Age + NT 75% sensitivity
    -MSS1 (Age + NT + PAPP-A + HCG) 85% sensitivity, 95% specificity
    -MSS2 (Age + Inhibin Am Oestradiol, AFP, HCG) 75% sensitivity, 93% specificity
  2. Diagnosis
    -CVS
    -Amniocentisis
  3. Antenatal management
    -Diagnose
    -Tertiary anatomy and fetal echo
    -Genetics referral
    -Counselling parents on choices
  4. Intrapartum care
    -Delivery at site with paeds available
    -Operative delivery not indicated
  5. Recurrence risk
    -1% risk of recurrence
    -If mother has T21 then risk is 50%
    -If mother carrier of Robertsonian translocation 10-15%
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4
Q

Discuss Trisomy 18 (Edwards Syndrome)
-Incidence
-Cause
-Features
-Prognosis

A
  1. Incidence
    -1:2000 - 1:6000 live births
    -Second most common syndrome with multiple malformations
  2. Causes
    -95% due to maternal non-disjunction at meiosis
    -5% due to paternal non-disjunction
    -Mosaicism is rare
  3. Features
    -Dysmorphic features - prominent occiput, micrognathia, short sternum, wide set nipples, clenched hands, rocker bottom heels, low set ears
    -Cardiac defects, omphalocoele, oesophageal atresia
    -Polyhydramnios
  4. Prognosis
    -Fetal loss 95%
    -Of those born alive 50% die in first week 90-95% within 1 yr
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5
Q

Discuss T18 (Edwards syndrome)
-Antenatal management
-Intrapartum management
-Postpartum care
-Risk of recurrence

A
  1. Antenatal management
    -Diagnosis
    -Counselling to parents and offer TOP
  2. Intrapartum care
    -CS contra-indicated for fetal indications
  3. Postpartum
    -Comfort cares
    -Offer parental genetic counselling if translocation suspected
  4. Risk of recurrence
    -1% in addition to age related risk
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6
Q

Discuss Trisomy 13 (Patau’s)
-Incidence
-Causes
-Features
-Prognosis

A
  1. Incidence
    -1:5000
  2. Causes
    -10% due to unbalanced translocation
  3. Features
    -Microcephaly, Holoprosencephaly, Dandy walker syndrome, cleft lip/palate, polydactyly, cardiac defects, growth restriction
  4. Prognosis
    -Fetal loss 97%
    -Less than 5% survive first year
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7
Q

Discuss trisomy 13 (Patau’s)
-Antenatal management
-Intrapartum management
-Postnatal management
-Risk of recurrence

A
  1. Antenatal management
    -Diagnosis
    -Offer parental counseling / TOP
  2. Intrapartum management
    -CS for fetal indications contra-indicated
  3. Post-natal cares
    -Comfort care after delivery
    -Offer parental genetic testing if unbalanced translocation suspected
  4. Risk of recurrence
    -1% above age related risk
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8
Q

Discuss Turners syndrome 45XO
-Incidence
-Causes
-USS features
-Features
-Prognosis
-Recurrence risk

A
  1. Incidence
    1:2500
  2. Causes
    -Non-contributory sperm 80% with X/Y chromosome lost in paternal meiosis
    -Mosaicism less common
  3. USS features
    -Cystic hygroma
    -Horse shoe kidney
    -Coarctation of aorta
    -Non-immune hydrops
    -Fetal growth restriction
  4. Features
    -Short stature
    -Amenorrhoeic
    -Wide spaced nipples
    -Rudimentary ovaries
    -Poor breast development
  5. Prognosis
    -Normal life expectancy
    -Normal cognition
  6. Risk of recurrence - not increased from baseline
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9
Q

Discuss congenital heart defects
-Incidence in live births (2)
-Percentage associated with a syndrome
-Detection rate on scan (3)

A
  1. Incidence in live birth
    -0.5-1%
    -Most common congenital abnormality
  2. Percentage associated with a syndrome
    -8% of those with CHD have a syndrome
  3. Detection rate on scan
    -40-50% detected with 4 chambre view
    -60-70% detected if outflow tracts seen
    -Most likely congenital abnormality to be missed
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10
Q

Discuss risk factors for congenital heart defects
-Preconception risk factors (6)
-During pregnancy (4)

A
  1. Preconception risk factors
    -Obesity
    -Pre-existing diabetes
    -Personal Hx of congenital heart disease 6% if maternal, 2% if paternal
    -Family history
    -If siblings affected 2% if 1 affected 10% if 2 affected
    -Medications AED, Lithium, alcohol
  2. During pregnancy
    -Increased NT (6% in those with NT >3.5mm and normal karyotype)
    -Hydrops
    -Fetal arrythmia
    -Other fetal anomalies
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11
Q

Discuss types of congenital cardia disease
-Acyanotic types (6)
-Cyanotic types (5)

A
  1. Acyanotic lesions
    -Body receives normally oxygenated blood
    -Occur with increased pulmonary blood flow or obstruction to blood flow from ventricles
    -ASD, VSD, PDA, Coarctation of aorta, aortic stenosis, pulmonary stenosis
  2. Cyanotic types
    -Body receives mixed blood
    -Occurs with lesions that result in decreased pulmonary flow or mixed blood flow
    -Remember 5 T’s and 5 fingers
    -Truncal arteriosis (1 main artery instead of two (aorta and pulmonary)
    -Transposition of great vessels (two separate circulations)
    -Tricuspid artesia
    -Tetralogy of Fallot
    -Total anomalous pulmonary venous return
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12
Q

Discuss duct dependant congenital heart lesions
-Lesions (2 groups)
-Management

A
  1. Lesions
    LV outflow obstruction lesions
    -AS, coarctation, hypoplastic L heart
    -Rely on R to L flow through PDA
    Decreased pulmonary blood flow
    -TOF, Tricuspid atresia, Pulmonary stenosis, transposition of the great vessels
    -Rely on L to R PDA
  2. Management
    -PGE1 infusion to keep duct open
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13
Q

Discuss tetralogy of Fallot
-Incidence
-Type of congenital heart disease
-Features
-Management
-Prognosis
-Recurrence

A
  1. Incidence
    -Most common cyanotic CHD
  2. Type of CHD
    -Cyanotic
    -Duct dependant cyanotic disease. Depends on L-R shunt
  3. Features
    -Pulmonary stenosis
    -VSD
    -High riding aorta
    -R ventricle hypertrophy
  4. Management
    -PGE infusion
    -Surgery within 6-9 months
  5. Prognosis
    -97% survival at 1 yr
  6. Recurrence
    - <3%
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14
Q

Discuss transposition of the great arteries
-Features
-Type
-Recurrence risk

A
  1. Features
    -Aorta arises from R ventricle
    -Pulmonary artery arises from L ventricle
    -Effectively 2 separate circulations - blood mixing enabled by PDA and PFO
  2. Type
    -Duct dependant cyanotic
  3. Recurrence risk
    - 2-6%
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15
Q

Discuss fetal arrythmias
-Incidence (2)
-Types (3)
-Maternal risk factors (5)
-Risks of fetal arrythmias (4)

A
  1. Incidence
    -1-3% of pregnancies
    -90% bear no clinical significance
  2. Types
    -Ectopic beats - 85%
    -Tachyarrythmias (5-8%)
    -Bradyarrythmias (5-8%)
  3. Maternal risk factors
    -Autoimmune disease (anti Ro/anti La)
    -Maternal drugs
    -Congenital heart disease
    -Thyroid disease
    -Infection
  4. Risks of fetal arrythmias
    -Heart failure
    -Hydrops
    -Neurological impairment
    -Fetal demise
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16
Q

Discuss ectopic beats in the fetus
-Cause
-Presentation
-Prognosis
-Treatment

A
  1. Cause
    -Due to atrial extra systole
  2. Presentation
    -More common in third trimester
  3. Prognosis
    -1-3% develop sustained tachyarrythmia
    -Excellent prognosis
  4. Treatment
    -Weekly auscultation to check for conversion to tachyarrythmia
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17
Q

Discuss fetal tachyarrythmias
-Definition
-Types (2)
-Management
-Prognosis

A
  1. Definition
    -FHR >180. Significant if >200
  2. Types (Most common)
    -SVT - usually due to re-entrant tachycardia with accessory pathway
    -Atrial flutter - variable AV block
  3. Treatment
    -75% can be converted with antenatal treatment
    -Flecainide is first line. Sotalol + digoxin is second line
  4. Prognosis
    - >90% survival
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18
Q

Discuss fetal bradyarrythmias
-Definition
-Types and causes (3)
-Management
-Indications for treatment

A
  1. Defintion
    -FHR <100bpm
  2. Types
    -Sinus bradycardia - Long QT, CNS disorders, metabolic disorders
    -Atrial bigeminy - Structural heart defects
    -AV blocks - anti Ro and Anti La antibodies
  3. Management
    -Refer to MFM
    -Check maternal anti Ro and La antibodies
    -Weekly Echo from 20 weeks
    -Consider maternal steroids to prevent progression of heart block
    -Consider delivery after 37 weeks
  4. Indications for treatment
    -HR <55
    -Hydrops
    -Evidence of deteriorating cardiac function
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19
Q

Discuss cystic hygroma
-Definition
-Prevalence
-Association with other findings
-Prognosis
-Management

A
  1. Definition
    -Multi-septate collection of fluid in the soft tissue
    -Causes by accumulation of lymphatic fluid from abnormal connections between venous and lymphatic system
    -Commonly seen in neck but can be at other sites
  2. Incidence
    1:100 first trimester - most demise
    1:6000 live births
  3. Association with other findings
    -Chromosomal abnormalities (XO, T21,13,18 XXY)
    -Cardiac abnormalities
    -Maternal alcohol use
    -Parvovirus
  4. Prognosis
    -Fetal loss 80-90%
  5. Management
    -Assess for other abnormalities
    -CS for delivery if very large
    -Surgical correction, aspiration, sclerosant
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20
Q

Discuss cleft lip/palate
-Incidence
-Definition
-Causes
-Associated abnormalities
-Management
-Risk of recurrence

A
  1. Incidence
    -1:1000
  2. Definition
    -Failure of lip fusion 4-7 weeks
    -Failure of palate fusion 6-9 weeks
  3. Causes
    -Genetic
    -Medications - phenytoin, valproate, MTX
    -Alcohol and smoking
  4. Associated abnormalities
    -Cardiac, skeletal, CNS
  5. Management
    -Assess for other abnormalities
    -Thorough exam prior to feeding
    -Surgical correction
  6. Risk of recurrence
    - 4%
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21
Q

Discuss gastroschisis
-Incidence
-Definition
-Risk factors (3)
-Associations (4)
-Prognosis
-Recurrence

A
  1. Incidence
    -5:10 000
  2. Definition
    -Anterior abdominal wall defect with uncovered abdominal contents
  3. Risk factors
    -Young maternal age
    -Smoking and other substance use
    -Low SES
  4. Associations
    -SGA (70%)
    -PTB (60%)
    -Other GI anomalies - atresia
    -Not usually associated with chromosomal abnormalities or other anomalies
  5. Prognosis
    -10% mortality
    -Increased risk of short gut, functional gut disorders
    -Associated with reduced growth and failure to thrive
  6. Recurrence
    -Very small risk of recurrence
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22
Q

Discuss gastroschesis
-Considerations for delivery (3)
-Early neonatal management (4)

A
  1. Considerations for delivery
    -IOL not indicated
    -CS not indicated
    -Delivery in hospital with NICU and paediatric services
  2. Early neonatal management
    -Resus but caution with CPAP - over inflation of bowel
    -Cover bowel with polyethylene to reduce heat and fluid loss and avoid infection
    -Aim for primary reduction
    -Avoid feeds. Given IVF and TPN
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23
Q

Discuss omphalocele
-Incidence
-Definition
-Types (3)
-Cause
-Associations
-Prognosis
-Recurrence

A
  1. Incidence
    -2 : 10 000
  2. Definition
    -Anterior wall defect with intra-abdominal contents protruding within the umbilical cord (covered)
  3. Types
    -Small - intestine +/- stomach
    -Giant - intestine + stomach + liver
    -Ruptured
  4. Cause
    -Failure of normal midgut herniation at 6-10 weeks to resolve by 12 weeks
  5. Associations
    -70% genetic/ chromosomal abnormality (triploids and turners)
    -50% cardiac abnormalities
    -Lung hypoplasia is very large
    -Syndromes - Beckwith - Weideman and Pentalogy of Cantrell
  6. Prognosis
    -75-95% if no associated chromosomal abnormality
    -Lower if associated with chromosomal abnormality
  7. Recurrence
    -Usually rare unless linked to chromosomal condition
24
Q

Discuss omphalocele
-Antenatal management
-Delivery
-Early neonatal management

A
  1. Antenatal management
    -Usually diagnosed at 12 weeks
    -Fetal echo given association with cardiac anomalies
    -Referral to MFM, paeds surg
    -Amniocentesis for karytoype
    -Serial GS and liquor volume
  2. Delivery
    -Aim VB unless giant omphalocele then CS
    -Deliver in location with NICU and paediatric surgeon
  3. Early neonatal care
    -NG tube, IVF
    -Cover with polyethylene film
    -Surgical repair
    -Echocardiogram
25
Q

Discuss oesophageal atresia
-Incidence
-Definition
-Associations
-Prognosis
-Recurrence risk

A
  1. Incidence
    -1:3000 - 1:4500 live births
  2. Definition
    -Congenital interruption of the oesophagus resulting in lack of direct communication between the pharynx and stomach
  3. Association
    -90% have tracheal - oesophageal fistulae
    -IUGR and PTB
    -50% have other anomalies - MSK, Cardiac, Renal, Gastric
    -Part of VACTREL cluster
    -Part of CHANGE syndrome
  4. Prognosis
    -If weight >1500g and normal heart >95% survival
    -<50% survival if <1500g and cardiac anomaly
    -Can get bronchomalachia, oesophageal dysphagia, fistulae and leaks
  5. Recurrence
    - 1%
26
Q

Discuss oesophageal atresia
-Antenatal care
-Delivery considerations
-Early neonatal care

A
  1. Antenatal care
    -Suspect if polyhydramnios and empty stomach bubble
    -Fetal echo to look for cardiac abnormalities
    -Refer to paed surg
  2. Delivery considerations
    -Delivery in hospital with NICU and paeds surg
  3. Early neonatal care
    -Avoid intubation if possible, consider orogastric tube
    -CXR and AXR
    -Surgery Day 1-2 of life
    -TPN and IVF
27
Q

Discuss bowel atresias
-Definition
-Incidence (3)
-Associations
-Prognosis
-Recurrence

A
  1. Definition
    -Congenital occlusion of the bowel lumen due to failure of canalisation or ischemic necrosis
    -4 types
  2. Incidence
    -Ileal or jejunal 1: 1500 - 5000
    -Dueodenal 1:20 000 - 40 000
    -Anal 1: 4000
  3. Associations
    -50% other anaomalies
    -30% have T21
    -May be associated with gastoschesis or Hirschprungs
  4. Prognosis
    -Very good
  5. Recurrence
    -Usually sporadic so recurrence rare
28
Q

Discuss echogenic bowel
-Definition
-Incidence
-Causes
-Associations
-Prognosis

A
  1. Definition
    -Bowel is as bright / brighter than bone
    -Soft marker for associated fetal anomalies
  2. Incidence
    -1% of fetuses
  3. Causes
    -Swallowed blood, bowel obstruction reduction in gut motility, abnormal meconium, vasculitis, collitis
  4. Other associations
    -Cystic fibrosis
    -T21 (1-2%)
    -In utero infection CMV and Toxo
    -IUGR 18%
    -Gastrointestinal disorders
  5. Prognosis
    -If isolated then no long term poor outcomes
29
Q

Discuss antenatal management of echogenic bowel

A
  1. Detailed anatomy scan
  2. Amniocentisis for karyotyping
  3. Parental CF testing +/- fetal genetic diagnosis
  4. Maternal TORCH screen
  5. Serial growth scans
30
Q

Discuss CPAM Congenital pulmonary airway malformation
-Incidence
-Definition
-Associated anomalies
-Complications

A
  1. Incidence
    -1: 11 000 - 1: 35 000
  2. Definition
    Unilateral congenital abnormality of bronchial development with proliferation leading to a solid / cystic mass
    Develops until 28/40 then regresses
  3. Associated anomalies
    -18% have other anomalies (renal agenesis, cardiac)
  4. Complications of CPAM
    -Bilateral CPAM 15%
    -Hypoplastic lung
    -Pleural effusions
    -Pneumothorax
    -Pneumonia/empyema
    -Hydrops (Compression of IVC)
    -Malignant change blastomas and carcinomas in the young
31
Q

Discuss CPAM - Congenital pulmonary airway malformation
-Antenatal management
-Delivery
-Postnatal care

A
  1. Antenatal management
    -Regular USS to monitor size of lesion and evidence of hydrops
    -Fetal Echo for cardiac anomalies and function
    -MRI to further investigate lesion
    -Thoracic amniotic shunt
  2. Delivery
    -Consider delivery if develops hydrops
    -Delivery location depends on size of lesion.
    -CS not indicated
    -Consider steroids pre-delivery
  3. Postnatal care
    -Long term FU given malignant potential
    -CT imaging of choice
    -Consider surgical resection
32
Q

Discuss prognosis for CPAM

A
  1. Spontaneous AN resolution in up to 75% of cases
  2. Poor prognosis with hydrops 95% died
  3. Prognosis with out hydrops 95% survival
33
Q

Discuss congenital diaphragmatic hernia
-Definition
-Incidence
-Cause
-Associated anomalies
-Prognosis
-Recurrence

A
  1. Definition
    -Developmental defect of the diaphragm with herniation of abdominal contents into chest cavity
    -95% posterior lateral 80% left sided
  2. Incidence
    1:3000 births
  3. Cause
    -Failure of the pleuroperitoneal canal closure at 8-10 weeks
  4. Associated anomalies
    -10-40% associated with other anomalies - renal/cardiac/ CNS/GIT
  5. Prognosis
    -90% survival if delivered in tertiary setting
    -30-40% survival including IUFD and TOP
    -Long term lung issues - chronic lung disease, recurrent infections, GORD
  6. Recurrence
    -2%
34
Q

Discuss management of congenital diaphragmatic hernia
-Antenatal care
-Delivery considerations
-Early neonatal care

A
  1. Antenatal care
    -Tertiary anatomy scan
    -Fetal echo and MRI
    -Fetal karyotype
    -No effective in utero interventions
    -Referral to paeds surg
    -Offer TOP
  2. Delivery
    -Deliver at tertiary hospital with NICU and paeds surg
    -MOD doesn’t impact outcome
  3. Early neonatal care
    -Intubate and ventilate immediately
    -Decompress stomach
    -CXR and serial echo’s to determine degree of pulmonary HTN and dutus patency
    -PGE to maintain ductus patency
35
Q

What are common associated anomalies with neural tube defects (5)

A

-Hydrocephalus
-Abnormal head shape
-Chiari malformations
-Talipes equinovarus
-Scolisosis

36
Q

What are the clinical consequences of neural tube defects
-Antenatally
-USS findings
-Postnatally

A
  1. Antenatally
    -Polyhydramnios
    -PPROM, PTL, cord prolapse, abruption
  2. USS findings
    -Absence of cranial head
    -Hydrocephaly
    -Ventriculomegaly
    -Lemon sign - abnormal size and shape of head
    -Banana sign - abnormal shaped cerebellum and posterior fossa
    -Protuberant sac containing dura/ meninges
    -Talipes
  3. Postnatally
    -Outcomes are lesion location dependent
    -Cognition
    -Ambulation
    -Neurogenic bladder
    -Bowel dysfunction
    -Latex allergy in 1/3rd can be life threatening
37
Q

How should NTD be managed
-Primary prevention (5)
-Detection (2)

A
  1. Primary prevention
    -Folic acid. 800mcg or 5g if at increased risk
    -Folic acid thought to decrease 16-58% of NTD
    -70% risk reduction if first child affected.
    -90% reduction in primary NTD
    -Change medications if required
  2. Detection
    -USS
    -Raised Alpha fetoprotein only in open NTD
    ->2.5 MoM = 95% detection rate for anencephally and 60-85% for open NTD
38
Q

Discuss neural tube defects
-Definition (1)
-Incidence (4)
-Causes (5)

A
  1. Definition
    -Structural abnormalities of the CNS or spinal column
  2. Incidence
    -Second most common major fetal anomaly
    -0.1% baseline risk
    -If previous child affected 3% increased risk
    -If two children affected 10% increased risk
  3. Causes
    -Isolated
    -Genetic - Trisomy 13,18, triploidy, Di Georges syndrome
    -Teratogens - AED - carbamazepine, valproate
    -Maternal febrile illness
    -Diabetes and obesity
39
Q

How should NTD be managed
-Antenatal care
-Delivery considerations
-Management in subsequent pregnancies

A
  1. Antenatal care
    -MDT with MFM neonatologist, paeds surg
    -Tertiary USS
    -Offer amniocentesis for chromosomal karyotype and microarray. Acetylcholinesterase in amniotic fluid helps distinguish open from closed
    -Counsel and offer TOP
    -In specific circumstances can offer utero-fetal repair in effort to preserve neurological function
    -Serial growth scan
  2. Delivery considerations
    -Aim for delivery in tertiary sitting with NICU
    -Aim delivery at term
    -If had utero-fetal surgery needs to have CS as increased risk of scar rupture.
    -Must be latex free
  3. Subsequent pregnancies
    -Risk reducing practices
    -Optimise health - diabetes, weight, meds
    -Avoid first trimester hyperthermia
40
Q

Discuss Dandy Walker Complex
-Pathophysiology
-Types of severity (2)
-Incidence
-Associated abnormalities
-Prognosis
-Recurrence

A
  1. Pathophysiology
    -Spectrum of abnormalities arising from a cystic dilation of the fourth ventricle
  2. Severity
    -Most severe - Dandy Walker Malformation = large posterior Fossa cyst + atresia of the cerebella vermis
    -Least severe - mega cisterna magna
  3. Incidence
    -1: 30 000
  4. Associated abnormalities
    -90% hydrocephalus
    -60% chromosomal abnormalities (T13 and T 18)
    -40% Cardiac abnormalities
  5. Prognosis
    -Mega cysterna magna can be normal
    -Dandy Walker malformation can be severe disability
  6. Recurrence
    -Depends on underlying syndrome
41
Q

Discuss management of Dandy Walker Complex
-Antenatal care
-Delivery considerations
-Neonatal management

A
  1. Antenatal care
    -Tertiary USS to assess for extent and other abnormalities
    -MRI
    -Amnio and Karyotype
    -Careful counseling to parents and options TOP vs pallitative care vs advanced life support
  2. Delivery considerations
    -If large hydrocephalus for CS
    -If active management planned deliver in place with NICU and paeds neurosurgery
  3. Neonatal management
    -Cranial USS and MRI
    -Shunting if hydrocephalus
    -Chromosomal studies if not previously done
    -MDT input
42
Q

Discuss agenesis of the corpus callosum
-Pathophysiology (3)
-Associated abnormalities (4)
-Prognosis (4)
-Recurrence (2)

A
  1. Pathophysiology
    -Congenital failure of the development of the corpus callosum.
    -Posterior horn looks dilated on USS
    -Associated with advanced maternal age
    -Occurs during weeks 10-20 of embryology
  2. Associated abnormalities
    -Can be isolated
    -50% other CNS abnormalities
    -30% MSK defects
    -17% chromosomal abnormalities aneuploidy
  3. Prognosis
    -If isolated 55% normal, 25% mild disability, 20% severe disability
    -Many have developmental delay, intellectual disability, seizure disorder
  4. Recurrence
    -1% if isolated
    -2-3% in underlying chromosomal abnormality
43
Q

Discuss management of corpus callosum agenesis
-Antenatal
-Delivery considerations
-Neonatal management

A
  1. Antenatal
    -Tertiary USS
    -Fetal MRI
    -Karyotype
    -Parental counselling on outcomes and options
  2. Delivery considerations
    -No special consideration
  3. Neonatal management
    -If isolated abnormality then immediate neonatal intervention not required
    -If CNS associated abnormalities may need airway support
    -Manage seizures symptomatically
    -Screen for metabolic disorders
    -Chromosomal testing
    -Blood glucose monitoring
44
Q

Discuss Ventriculomegaly
-Pathophysiology
-Incidence
-Classification
-Prognosis
-Recurrence

A
  1. Pathophysiology
    -Dilation of the lateral ventricles
    -Associated with poor brain development
    -Can lead to hydrocephalus
  2. Incidence
    -Most common CNS anomaly 1:22 to 1:100 live births
  3. Classification
    -Mild 10-12mm
    -Moderate 12.1-15mm
    -Severe >15mm
  4. Prognosis
    -Depends on underlying cause and other anomalies
  5. Recurrence
    -If isolated 4%
    -If associated with chromosomal disorder - up to 50%
45
Q

Discuss the causes of ventriculomegaly (4 groups)

A

Idiopathic
CNS anomalies
-Stenosis of ventricular system
-Tumours
-Intraventricular haemorrhage
-NTD
-Dandy-Walker
Chromosomal abnormalities
-Trisomies, unbalanced translocations, triproidy
Fetal infections
-CMV, Toxo, Parvovirus, herpes, mumps, enterovirus, rubella, varicella, HIV

46
Q

Discuss management of ventriculomegaly
-Antenatal
-Delivery considerations
-Neonatal management

A
  1. Antenatal
    -Tertiary USS
    -Fetal Karyotype
    -TORCH screen
  2. Delivery
    -IOL at term
    -Aim VB unless significant hydrocephalus
    -If severe macrocephaly consider drainage pre-delivery. Associated with risk of fetal demise.
  3. Neonatal management
    -Examine for other abnormalities
    -Consider USS/MRI
    -Chromosomal testing if not done
    -Platelet count and coags if concern over haemorrhage as underlying cause
    -MDT input
47
Q

Discuss choroid plexus cyst
-Pathophysiology
-Associated abnormalities
-Prognosis
-Management

A
  1. Pathophysiology
    -Echolucent cystic areas in choroid plexus >5mm.
    -Usually present in 1-3% and regress in 3rd trimester
  2. Associated abnormalities
    -Soft marker for fetal anomaly
    -T18 (50% have choroid plexus cyst)
  3. Prognosis
    -Isolated choroid plexus cysts have not significance
  4. Management
    -Look for other anomalies and offer chromosomal testing
    -No invasive testing required if isolated finding
48
Q

Discuss renal tract abnormalities
-Incidence of renal tract anomalies
-Types of abnormalities (3 groups)
-Associated disorders (3)
-Complications (4)

A
  1. Incidence
    -2%
    -50% in lower renal tract, 50% in upper renal tract
  2. Types of abnormalities
    Due to disorders in the creation of the duct system and nephrons
    -Renal agenesis - kidney doesn’t form
    -Duplex kidney
    -Hypoplastic kidney - small kidney with fewer nephrons
    -Dysplastic kidney
    -Multicystic kidney
    Due to disorders of migration to correct anatomic site
    -Ectopic kidney - often in pelvis
    -Horseshoe kidney
    Due to obstruction - in Males
    -Urethral atresia
    -Posterior urethral valves
  3. Associated anomalies
    -Turners syndrome (Horseshoes kidney)
    -VACTERAL
    -CHARGE
  4. Complications
    -Malignant transformation (Horseshoe kidney)
    -Recurrent UTI
    -Oligohydramnios leading to lung hypoplasia
    -HTN
49
Q

Discuss management of renal tract abnormalities
-Antenatal
-Delivery
-Postnatal

A
  1. Antenatal
    -Serial USS to check progression/ oligo/bladder distension
    -If A1 can be monthly
    -If A2/3 should be 2 weekly
    -If oligohydramnios consider vesicoamniotic shunting to reduce lung hypoplasia
    -Can test fetal urine if isotonic suggests renal damage - can help with prognosis
    -Chromosomal testing
    -Offer TOP depending on prognosis
  2. Delivery
    -No indication for IOL or CS
    -Deliver at hospital with NICU
    -If pulmonary hypoplasia then will need respiratory support
  3. Postnatal
    -USS - Day 2
    -Serum electrolytes
    -Consider prophylactic antibiotics
50
Q

Discuss dilated bladder
-Definition (2)
-Causes (3)
-Prognosis

A
  1. Definition
    - >6mm longitudinal diameter of bladder in first trimester
    -Enlarged bladder that fails to empty over 45mins in second and third trimester.
  2. Causes
    -Posterior urethral valves - causes 25%. Males only
    -Urethral atresia/stenosis- worst prognosis
    -Prue belly syndrome - Males only. Entire tract dilated
  3. Prognosis
    -Posterior urethral valves - 50% mortality if oligohydramnios and pulmonary hypoplasia. 50% chronic renal failure
    -Prune Belly syndrome - 30% chronic renal failure
51
Q

Discuss dilated renal pelvis
-Incidence (1)
-Causes (2)
-Associated anomaly incidence (1)
-Types (3)

A
  1. Incidence
    -2-5% of all pregnancies
  2. Causes
    -Isolated without obstruction (Prune Belly syndrome, vesicoureteric reflux)
    -Obstructive causes pelviurethral obstruction
    -Physiological with spontaneous resolution
  3. Association anomaly inciodence
    -10%
  4. Types
    Mild (A1)
    -AP diameter second trimester 4-7mm
    -AP diameter third trimester 7-9mm
    Moderate (A2)
    -AP diameter second trimester 7-10mm +/- calyceal dilation
    -AP diameter third trimester 9-15mm +/- calyceal dilation
    Severe (A3)
    -AP diameter second trimester >10mm +/- calyceal dilation
    -AP diameter third trimester >15mm +/- calyceal dilation
52
Q

What are the prognostic factors for renal hydronephrosis (4)

A

-If obstructive cause worse outcome
-If oligohydramnios present and time of onset
-If obstruction is bilateral = worse
-Association with chromosomal abnormalities

53
Q

Discuss achondroplasia
-Pathophysiology (3)
-Diagnosis (2)
-Management in pregnancy and postnatal (3)

A
  1. Pathophysiology
    -One of many skeletal dysplasia’s
    -Single gene disorder
    -Autosomal dominant inheritance
  2. Diagnosis
    -Only evident after 22/40
    -Short limbs and relative macrocephaly
  3. Management in pregnancy and postnatally
    -Consider CS for macrocephaly
    -Postnatally - X-rays, genetic testing, review for complications
54
Q

Discuss Osteogenesis imperfecta
-Pathophysiology
-Types
-Diagnosis
-Labour considerations
-Postnatal care

A
  1. Pathophysiology
    -Type 1 collagen abnormality leading to bone fragility
    -Autosomal dominant in mild forms of disease.
    -Autosomal recessive in severe forms of disease
  2. Types
    -Type 1 Mild with few fractures. Blue sclera
    -Type 2 - Lethal
    -Type 3 - Progressive with multiple fractures and growth impairment
    -Type 4 - Mild with few fractures. Normal sclera
  3. Diagnosis
    -Decreased echogenicity of bones, shortening ang bowing of bones, thorax deformities, thin skull
  4. Labour considerations
    -No difference in outcome with CS or VB
  5. Postnatal care
    -Examine for fractures, frequent position changes, don’t lift by extremities
55
Q

Discuss talipes
-Incidence (3)
-Risk factors (3)
-Associated malformations
-Diagnosis
-Postnatal care

A
  1. Incidence
    -60% unilateral, 40% bilateral
    -1:300 live births
  2. Risk factors
    -Family hx in 25%
    -Likelihood of affected sibling 1:35
    -More common in females
  3. Associated malformations
    -Other malformations in 20%
    -Congenital hip dysplasia in 1:200 live births
    -Neuromuscular disorders
    -T13/18
  4. Diagnosis
    -Picked up at 20/40 scan
  5. Postnatal care
    -Examine for other abnormalities esp hips
    -Refer to orthopaedics - serial casting
56
Q

Discuss arthyogryposis multiplex congentia
-Incidence (1)
-Definition (2)
-Causes (5 groups)
-Associated abnormalities (4)

A
  1. Incidence
    -1:4000
  2. Definition
    -Multiple joint contractors due to reduced or absent fetal movements
    -Causes by any abnormality along the pathway from the brain to the muscles
  3. Causes
    -Neurogenic - CNS or peripheral neuropathies
    -Myogenic - NM junction disorders, congenital muscular dystrophies
    -Connective tissue disorders
    -Space limitation - PPROM, oligohydramnios, amniotic bands, fibroids
    -Maternal factors - FASD, MG, Rubella, hypotension, hypoxia
  4. Associated abnormalities
    -Polyhydramnios
    -Pulmonary hypoplasia
    -IUGR
    -Craniofacial abnormalities

RANZCOG 2024 - Antenatal Edward (12 decks)

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