Fetal anomalies Flashcards
What are the soft markers for aneuploidy (5)
-Choroid plexus cyst
-Echogenic bowel
-Echogenic intracardiac focus
-Mild renal pelvis dilitation
-Mild cerebral ventricular dilitation
Discuss trisomy 21
-Incidence
-Age related incidence (at 20,30,40,45)
-Cause
-Features
-Prognosis
- Incidence
-1:700 - Age related incidence
-20 1:2000
-30 1:900
-40 1:100
-45 1:30 - Causes
-95% due to maternal non-disjunction during meiosis
-3-4% due to balanced Robertsonian translocation
-1% due to mosaicsm - Features
-Mental impairment 99%
-Growth restriction 90%
-Congenital heart defects 40%
-GIT atresia
-Multiple systems affected - opthalmic, MSK, Resp, Cardiac, GI, haematological, neuro, autoimmune - Prognosis
-Spontaneous miscarriage 25%
-Life expectancy 50-60yr
Discuss Trisomy 21
-Screening sensitivity and specificity (4)
-Diagnosis
-Antenatal management
-Intrapartum management
-Risk of recurrence
- 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 - Diagnosis
-CVS
-Amniocentisis - Antenatal management
-Diagnose
-Tertiary anatomy and fetal echo
-Genetics referral
-Counselling parents on choices - Intrapartum care
-Delivery at site with paeds available
-Operative delivery not indicated - Recurrence risk
-1% risk of recurrence
-If mother has T21 then risk is 50%
-If mother carrier of Robertsonian translocation 10-15%
Discuss Trisomy 18 (Edwards Syndrome)
-Incidence
-Cause
-Features
-Prognosis
- Incidence
-1:2000 - 1:6000 live births
-Second most common syndrome with multiple malformations - Causes
-95% due to maternal non-disjunction at meiosis
-5% due to paternal non-disjunction
-Mosaicism is rare - 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 - Prognosis
-Fetal loss 95%
-Of those born alive 50% die in first week 90-95% within 1 yr
Discuss T18 (Edwards syndrome)
-Antenatal management
-Intrapartum management
-Postpartum care
-Risk of recurrence
- Antenatal management
-Diagnosis
-Counselling to parents and offer TOP - Intrapartum care
-CS contra-indicated for fetal indications - Postpartum
-Comfort cares
-Offer parental genetic counselling if translocation suspected - Risk of recurrence
-1% in addition to age related risk
Discuss Trisomy 13 (Patau’s)
-Incidence
-Causes
-Features
-Prognosis
- Incidence
-1:5000 - Causes
-10% due to unbalanced translocation - Features
-Microcephaly, Holoprosencephaly, Dandy walker syndrome, cleft lip/palate, polydactyly, cardiac defects, growth restriction - Prognosis
-Fetal loss 97%
-Less than 5% survive first year
Discuss trisomy 13 (Patau’s)
-Antenatal management
-Intrapartum management
-Postnatal management
-Risk of recurrence
- Antenatal management
-Diagnosis
-Offer parental counseling / TOP - Intrapartum management
-CS for fetal indications contra-indicated - Post-natal cares
-Comfort care after delivery
-Offer parental genetic testing if unbalanced translocation suspected - Risk of recurrence
-1% above age related risk
Discuss Turners syndrome 45XO
-Incidence
-Causes
-USS features
-Features
-Prognosis
-Recurrence risk
- Incidence
1:2500 - Causes
-Non-contributory sperm 80% with X/Y chromosome lost in paternal meiosis
-Mosaicism less common - USS features
-Cystic hygroma
-Horse shoe kidney
-Coarctation of aorta
-Non-immune hydrops
-Fetal growth restriction - Features
-Short stature
-Amenorrhoeic
-Wide spaced nipples
-Rudimentary ovaries
-Poor breast development - Prognosis
-Normal life expectancy
-Normal cognition - Risk of recurrence - not increased from baseline
Discuss congenital heart defects
-Incidence in live births (2)
-Percentage associated with a syndrome
-Detection rate on scan (3)
- Incidence in live birth
-0.5-1%
-Most common congenital abnormality - Percentage associated with a syndrome
-8% of those with CHD have a syndrome - 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
Discuss risk factors for congenital heart defects
-Preconception risk factors (6)
-During pregnancy (4)
- 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 - During pregnancy
-Increased NT (6% in those with NT >3.5mm and normal karyotype)
-Hydrops
-Fetal arrythmia
-Other fetal anomalies
Discuss types of congenital cardia disease
-Acyanotic types (6)
-Cyanotic types (5)
- 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 - 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
Discuss duct dependant congenital heart lesions
-Lesions (2 groups)
-Management
- 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 - Management
-PGE1 infusion to keep duct open
Discuss tetralogy of Fallot
-Incidence
-Type of congenital heart disease
-Features
-Management
-Prognosis
-Recurrence
- Incidence
-Most common cyanotic CHD - Type of CHD
-Cyanotic
-Duct dependant cyanotic disease. Depends on L-R shunt - Features
-Pulmonary stenosis
-VSD
-High riding aorta
-R ventricle hypertrophy - Management
-PGE infusion
-Surgery within 6-9 months - Prognosis
-97% survival at 1 yr - Recurrence
- <3%
Discuss transposition of the great arteries
-Features
-Type
-Recurrence risk
- Features
-Aorta arises from R ventricle
-Pulmonary artery arises from L ventricle
-Effectively 2 separate circulations - blood mixing enabled by PDA and PFO - Type
-Duct dependant cyanotic - Recurrence risk
- 2-6%
Discuss fetal arrythmias
-Incidence (2)
-Types (3)
-Maternal risk factors (5)
-Risks of fetal arrythmias (4)
- Incidence
-1-3% of pregnancies
-90% bear no clinical significance - Types
-Ectopic beats - 85%
-Tachyarrythmias (5-8%)
-Bradyarrythmias (5-8%) - Maternal risk factors
-Autoimmune disease (anti Ro/anti La)
-Maternal drugs
-Congenital heart disease
-Thyroid disease
-Infection - Risks of fetal arrythmias
-Heart failure
-Hydrops
-Neurological impairment
-Fetal demise
Discuss ectopic beats in the fetus
-Cause
-Presentation
-Prognosis
-Treatment
- Cause
-Due to atrial extra systole - Presentation
-More common in third trimester - Prognosis
-1-3% develop sustained tachyarrythmia
-Excellent prognosis - Treatment
-Weekly auscultation to check for conversion to tachyarrythmia
Discuss fetal tachyarrythmias
-Definition
-Types (2)
-Management
-Prognosis
- Definition
-FHR >180. Significant if >200 - Types (Most common)
-SVT - usually due to re-entrant tachycardia with accessory pathway
-Atrial flutter - variable AV block - Treatment
-75% can be converted with antenatal treatment
-Flecainide is first line. Sotalol + digoxin is second line - Prognosis
- >90% survival
Discuss fetal bradyarrythmias
-Definition
-Types and causes (3)
-Management
-Indications for treatment
- Defintion
-FHR <100bpm - Types
-Sinus bradycardia - Long QT, CNS disorders, metabolic disorders
-Atrial bigeminy - Structural heart defects
-AV blocks - anti Ro and Anti La antibodies - 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 - Indications for treatment
-HR <55
-Hydrops
-Evidence of deteriorating cardiac function
Discuss cystic hygroma
-Definition
-Prevalence
-Association with other findings
-Prognosis
-Management
- 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 - Incidence
1:100 first trimester - most demise
1:6000 live births - Association with other findings
-Chromosomal abnormalities (XO, T21,13,18 XXY)
-Cardiac abnormalities
-Maternal alcohol use
-Parvovirus - Prognosis
-Fetal loss 80-90% - Management
-Assess for other abnormalities
-CS for delivery if very large
-Surgical correction, aspiration, sclerosant
Discuss cleft lip/palate
-Incidence
-Definition
-Causes
-Associated abnormalities
-Management
-Risk of recurrence
- Incidence
-1:1000 - Definition
-Failure of lip fusion 4-7 weeks
-Failure of palate fusion 6-9 weeks - Causes
-Genetic
-Medications - phenytoin, valproate, MTX
-Alcohol and smoking - Associated abnormalities
-Cardiac, skeletal, CNS - Management
-Assess for other abnormalities
-Thorough exam prior to feeding
-Surgical correction - Risk of recurrence
- 4%
Discuss gastroschisis
-Incidence
-Definition
-Risk factors (3)
-Associations (4)
-Prognosis
-Recurrence
- Incidence
-5:10 000 - Definition
-Anterior abdominal wall defect with uncovered abdominal contents - Risk factors
-Young maternal age
-Smoking and other substance use
-Low SES - Associations
-SGA (70%)
-PTB (60%)
-Other GI anomalies - atresia
-Not usually associated with chromosomal abnormalities or other anomalies - Prognosis
-10% mortality
-Increased risk of short gut, functional gut disorders
-Associated with reduced growth and failure to thrive - Recurrence
-Very small risk of recurrence
Discuss gastroschesis
-Considerations for delivery (3)
-Early neonatal management (4)
- Considerations for delivery
-IOL not indicated
-CS not indicated
-Delivery in hospital with NICU and paediatric services - 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
Discuss omphalocele
-Incidence
-Definition
-Types (3)
-Cause
-Associations
-Prognosis
-Recurrence
- Incidence
-2 : 10 000 - Definition
-Anterior wall defect with intra-abdominal contents protruding within the umbilical cord (covered) - Types
-Small - intestine +/- stomach
-Giant - intestine + stomach + liver
-Ruptured - Cause
-Failure of normal midgut herniation at 6-10 weeks to resolve by 12 weeks - Associations
-70% genetic/ chromosomal abnormality (triploids and turners)
-50% cardiac abnormalities
-Lung hypoplasia is very large
-Syndromes - Beckwith - Weideman and Pentalogy of Cantrell - Prognosis
-75-95% if no associated chromosomal abnormality
-Lower if associated with chromosomal abnormality - Recurrence
-Usually rare unless linked to chromosomal condition
Discuss omphalocele
-Antenatal management
-Delivery
-Early neonatal management
- 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 - Delivery
-Aim VB unless giant omphalocele then CS
-Deliver in location with NICU and paediatric surgeon - Early neonatal care
-NG tube, IVF
-Cover with polyethylene film
-Surgical repair
-Echocardiogram
Discuss oesophageal atresia
-Incidence
-Definition
-Associations
-Prognosis
-Recurrence risk
- Incidence
-1:3000 - 1:4500 live births - Definition
-Congenital interruption of the oesophagus resulting in lack of direct communication between the pharynx and stomach - 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 - Prognosis
-If weight >1500g and normal heart >95% survival
-<50% survival if <1500g and cardiac anomaly
-Can get bronchomalachia, oesophageal dysphagia, fistulae and leaks - Recurrence
- 1%
Discuss oesophageal atresia
-Antenatal care
-Delivery considerations
-Early neonatal care
- Antenatal care
-Suspect if polyhydramnios and empty stomach bubble
-Fetal echo to look for cardiac abnormalities
-Refer to paed surg - Delivery considerations
-Delivery in hospital with NICU and paeds surg - Early neonatal care
-Avoid intubation if possible, consider orogastric tube
-CXR and AXR
-Surgery Day 1-2 of life
-TPN and IVF
Discuss bowel atresias
-Definition
-Incidence (3)
-Associations
-Prognosis
-Recurrence
- Definition
-Congenital occlusion of the bowel lumen due to failure of canalisation or ischemic necrosis
-4 types - Incidence
-Ileal or jejunal 1: 1500 - 5000
-Dueodenal 1:20 000 - 40 000
-Anal 1: 4000 - Associations
-50% other anaomalies
-30% have T21
-May be associated with gastoschesis or Hirschprungs - Prognosis
-Very good - Recurrence
-Usually sporadic so recurrence rare
Discuss echogenic bowel
-Definition
-Incidence
-Causes
-Associations
-Prognosis
- Definition
-Bowel is as bright / brighter than bone
-Soft marker for associated fetal anomalies - Incidence
-1% of fetuses - Causes
-Swallowed blood, bowel obstruction reduction in gut motility, abnormal meconium, vasculitis, collitis - Other associations
-Cystic fibrosis
-T21 (1-2%)
-In utero infection CMV and Toxo
-IUGR 18%
-Gastrointestinal disorders - Prognosis
-If isolated then no long term poor outcomes
Discuss antenatal management of echogenic bowel
- Detailed anatomy scan
- Amniocentisis for karyotyping
- Parental CF testing +/- fetal genetic diagnosis
- Maternal TORCH screen
- Serial growth scans
Discuss CPAM Congenital pulmonary airway malformation
-Incidence
-Definition
-Associated anomalies
-Complications
- Incidence
-1: 11 000 - 1: 35 000 - Definition
Unilateral congenital abnormality of bronchial development with proliferation leading to a solid / cystic mass
Develops until 28/40 then regresses - Associated anomalies
-18% have other anomalies (renal agenesis, cardiac) - 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
Discuss CPAM - Congenital pulmonary airway malformation
-Antenatal management
-Delivery
-Postnatal care
- 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 - Delivery
-Consider delivery if develops hydrops
-Delivery location depends on size of lesion.
-CS not indicated
-Consider steroids pre-delivery - Postnatal care
-Long term FU given malignant potential
-CT imaging of choice
-Consider surgical resection
Discuss prognosis for CPAM
- Spontaneous AN resolution in up to 75% of cases
- Poor prognosis with hydrops 95% died
- Prognosis with out hydrops 95% survival
Discuss congenital diaphragmatic hernia
-Definition
-Incidence
-Cause
-Associated anomalies
-Prognosis
-Recurrence
- Definition
-Developmental defect of the diaphragm with herniation of abdominal contents into chest cavity
-95% posterior lateral 80% left sided - Incidence
1:3000 births - Cause
-Failure of the pleuroperitoneal canal closure at 8-10 weeks - Associated anomalies
-10-40% associated with other anomalies - renal/cardiac/ CNS/GIT - 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 - Recurrence
-2%
Discuss management of congenital diaphragmatic hernia
-Antenatal care
-Delivery considerations
-Early neonatal care
- Antenatal care
-Tertiary anatomy scan
-Fetal echo and MRI
-Fetal karyotype
-No effective in utero interventions
-Referral to paeds surg
-Offer TOP - Delivery
-Deliver at tertiary hospital with NICU and paeds surg
-MOD doesn’t impact outcome - 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
What are common associated anomalies with neural tube defects (5)
-Hydrocephalus
-Abnormal head shape
-Chiari malformations
-Talipes equinovarus
-Scolisosis
What are the clinical consequences of neural tube defects
-Antenatally
-USS findings
-Postnatally
- Antenatally
-Polyhydramnios
-PPROM, PTL, cord prolapse, abruption - 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 - Postnatally
-Outcomes are lesion location dependent
-Cognition
-Ambulation
-Neurogenic bladder
-Bowel dysfunction
-Latex allergy in 1/3rd can be life threatening
How should NTD be managed
-Primary prevention (5)
-Detection (2)
- 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 - Detection
-USS
-Raised Alpha fetoprotein only in open NTD
->2.5 MoM = 95% detection rate for anencephally and 60-85% for open NTD
Discuss neural tube defects
-Definition (1)
-Incidence (4)
-Causes (5)
- Definition
-Structural abnormalities of the CNS or spinal column - 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 - Causes
-Isolated
-Genetic - Trisomy 13,18, triploidy, Di Georges syndrome
-Teratogens - AED - carbamazepine, valproate
-Maternal febrile illness
-Diabetes and obesity
How should NTD be managed
-Antenatal care
-Delivery considerations
-Management in subsequent pregnancies
- 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 - 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 - Subsequent pregnancies
-Risk reducing practices
-Optimise health - diabetes, weight, meds
-Avoid first trimester hyperthermia
Discuss Dandy Walker Complex
-Pathophysiology
-Types of severity (2)
-Incidence
-Associated abnormalities
-Prognosis
-Recurrence
- Pathophysiology
-Spectrum of abnormalities arising from a cystic dilation of the fourth ventricle - Severity
-Most severe - Dandy Walker Malformation = large posterior Fossa cyst + atresia of the cerebella vermis
-Least severe - mega cisterna magna - Incidence
-1: 30 000 - Associated abnormalities
-90% hydrocephalus
-60% chromosomal abnormalities (T13 and T 18)
-40% Cardiac abnormalities - Prognosis
-Mega cysterna magna can be normal
-Dandy Walker malformation can be severe disability - Recurrence
-Depends on underlying syndrome
Discuss management of Dandy Walker Complex
-Antenatal care
-Delivery considerations
-Neonatal management
- 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 - Delivery considerations
-If large hydrocephalus for CS
-If active management planned deliver in place with NICU and paeds neurosurgery - Neonatal management
-Cranial USS and MRI
-Shunting if hydrocephalus
-Chromosomal studies if not previously done
-MDT input
Discuss agenesis of the corpus callosum
-Pathophysiology (3)
-Associated abnormalities (4)
-Prognosis (4)
-Recurrence (2)
- 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 - Associated abnormalities
-Can be isolated
-50% other CNS abnormalities
-30% MSK defects
-17% chromosomal abnormalities aneuploidy - Prognosis
-If isolated 55% normal, 25% mild disability, 20% severe disability
-Many have developmental delay, intellectual disability, seizure disorder - Recurrence
-1% if isolated
-2-3% in underlying chromosomal abnormality
Discuss management of corpus callosum agenesis
-Antenatal
-Delivery considerations
-Neonatal management
- Antenatal
-Tertiary USS
-Fetal MRI
-Karyotype
-Parental counselling on outcomes and options - Delivery considerations
-No special consideration - 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
Discuss Ventriculomegaly
-Pathophysiology
-Incidence
-Classification
-Prognosis
-Recurrence
- Pathophysiology
-Dilation of the lateral ventricles
-Associated with poor brain development
-Can lead to hydrocephalus - Incidence
-Most common CNS anomaly 1:22 to 1:100 live births - Classification
-Mild 10-12mm
-Moderate 12.1-15mm
-Severe >15mm - Prognosis
-Depends on underlying cause and other anomalies - Recurrence
-If isolated 4%
-If associated with chromosomal disorder - up to 50%
Discuss the causes of ventriculomegaly (4 groups)
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
Discuss management of ventriculomegaly
-Antenatal
-Delivery considerations
-Neonatal management
- Antenatal
-Tertiary USS
-Fetal Karyotype
-TORCH screen - Delivery
-IOL at term
-Aim VB unless significant hydrocephalus
-If severe macrocephaly consider drainage pre-delivery. Associated with risk of fetal demise. - 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
Discuss choroid plexus cyst
-Pathophysiology
-Associated abnormalities
-Prognosis
-Management
- Pathophysiology
-Echolucent cystic areas in choroid plexus >5mm.
-Usually present in 1-3% and regress in 3rd trimester - Associated abnormalities
-Soft marker for fetal anomaly
-T18 (50% have choroid plexus cyst) - Prognosis
-Isolated choroid plexus cysts have not significance - Management
-Look for other anomalies and offer chromosomal testing
-No invasive testing required if isolated finding
Discuss renal tract abnormalities
-Incidence of renal tract anomalies
-Types of abnormalities (3 groups)
-Associated disorders (3)
-Complications (4)
- Incidence
-2%
-50% in lower renal tract, 50% in upper renal tract - 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 - Associated anomalies
-Turners syndrome (Horseshoes kidney)
-VACTERAL
-CHARGE - Complications
-Malignant transformation (Horseshoe kidney)
-Recurrent UTI
-Oligohydramnios leading to lung hypoplasia
-HTN
Discuss management of renal tract abnormalities
-Antenatal
-Delivery
-Postnatal
- 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 - Delivery
-No indication for IOL or CS
-Deliver at hospital with NICU
-If pulmonary hypoplasia then will need respiratory support - Postnatal
-USS - Day 2
-Serum electrolytes
-Consider prophylactic antibiotics
Discuss dilated bladder
-Definition (2)
-Causes (3)
-Prognosis
- Definition
- >6mm longitudinal diameter of bladder in first trimester
-Enlarged bladder that fails to empty over 45mins in second and third trimester. - Causes
-Posterior urethral valves - causes 25%. Males only
-Urethral atresia/stenosis- worst prognosis
-Prue belly syndrome - Males only. Entire tract dilated - Prognosis
-Posterior urethral valves - 50% mortality if oligohydramnios and pulmonary hypoplasia. 50% chronic renal failure
-Prune Belly syndrome - 30% chronic renal failure
Discuss dilated renal pelvis
-Incidence (1)
-Causes (2)
-Associated anomaly incidence (1)
-Types (3)
- Incidence
-2-5% of all pregnancies - Causes
-Isolated without obstruction (Prune Belly syndrome, vesicoureteric reflux)
-Obstructive causes pelviurethral obstruction
-Physiological with spontaneous resolution - Association anomaly inciodence
-10% - 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
What are the prognostic factors for renal hydronephrosis (4)
-If obstructive cause worse outcome
-If oligohydramnios present and time of onset
-If obstruction is bilateral = worse
-Association with chromosomal abnormalities
Discuss achondroplasia
-Pathophysiology (3)
-Diagnosis (2)
-Management in pregnancy and postnatal (3)
- Pathophysiology
-One of many skeletal dysplasia’s
-Single gene disorder
-Autosomal dominant inheritance - Diagnosis
-Only evident after 22/40
-Short limbs and relative macrocephaly - Management in pregnancy and postnatally
-Consider CS for macrocephaly
-Postnatally - X-rays, genetic testing, review for complications
Discuss Osteogenesis imperfecta
-Pathophysiology
-Types
-Diagnosis
-Labour considerations
-Postnatal care
- Pathophysiology
-Type 1 collagen abnormality leading to bone fragility
-Autosomal dominant in mild forms of disease.
-Autosomal recessive in severe forms of disease - 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 - Diagnosis
-Decreased echogenicity of bones, shortening ang bowing of bones, thorax deformities, thin skull - Labour considerations
-No difference in outcome with CS or VB - Postnatal care
-Examine for fractures, frequent position changes, don’t lift by extremities
Discuss talipes
-Incidence (3)
-Risk factors (3)
-Associated malformations
-Diagnosis
-Postnatal care
- Incidence
-60% unilateral, 40% bilateral
-1:300 live births - Risk factors
-Family hx in 25%
-Likelihood of affected sibling 1:35
-More common in females - Associated malformations
-Other malformations in 20%
-Congenital hip dysplasia in 1:200 live births
-Neuromuscular disorders
-T13/18 - Diagnosis
-Picked up at 20/40 scan - Postnatal care
-Examine for other abnormalities esp hips
-Refer to orthopaedics - serial casting
Discuss arthyogryposis multiplex congentia
-Incidence (1)
-Definition (2)
-Causes (5 groups)
-Associated abnormalities (4)
- Incidence
-1:4000 - Definition
-Multiple joint contractors due to reduced or absent fetal movements
-Causes by any abnormality along the pathway from the brain to the muscles - 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 - Associated abnormalities
-Polyhydramnios
-Pulmonary hypoplasia
-IUGR
-Craniofacial abnormalities
