Fetal anomalies Flashcards

Question

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

Answer 1

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%

Answer 2

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

Answer 3

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

Answer 4

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

Answer 5

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

Answer 6

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

Answer 7

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

Answer 8

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

Answer 9

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%

Answer 10

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

Answer 11

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

Answer 12

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

Answer 13

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

Answer 14

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

Answer 15

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

Answer 16

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 4. Prognosis -Mega cysterna magna can be normal -Dandy Walker malformation can be severe disability 5. Recurrence -Depends on underlying syndrome

Answer 17

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

Answer 18

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

Answer 19

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

Answer 20

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%

Answer 21

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

Answer 22

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

Answer 23

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

Answer 24

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

Answer 25

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

Answer 26

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

Answer 27

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

Answer 28

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

Answer 29

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

Answer 30

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

Answer 31

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

Answer 32

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

Fetal anomalies Flashcards

(56 cards)