Congenital Malformations Flashcards
What is a cleft lip/ palate?
What are the subcategories of cleft lip/palate?
failure of fusion of the frontonasal and maxillary processes
Types: combined cleft lip and palate (45%) > isolated cleft palate (40%) > isolated cleft lip (15%)
Risk factors and Investigations for cleft lip/palate?
maternal antiepileptic use and maternal bdz use
75% are detected 20w anomaly scan
Management for cleft lip/palate?
MDT (plastic surgeon, ENT surgeon, paediatrician, orthodontist, audiologist, SALT
Surgery is definitive
What is a Diaphragmagmatic Hernia?
occurs at 6-8 weeks of pregnancy - diaphragm does not form correctly
intestine moves through left chest area
85% = left sided hernia
Signs and symptoms of DH?
diagnosed on routine USS or after respiratory distress at delivery:
concave chest at birth
RDS
intestinal obstruction
volvulus of stomach
Investigations of DH?
CXR
Blood gas
U+Es
SpO2
Management of DH?
NG tube and suction to prevent distension of intrathoracic vowel
surgery reduction and repair -> re-expansion of lung -> ventilatory support
What is Tracheoesophageal Fistula and Oesophageal Atresia?
OA = malformation of oesophagus so it does not connect to stomach
TOF = part of oesophagus joined to trachea; often occurs alongside OA
stomach acid can regurgitate and go into the lungs
Investigations for TOF and OA?
NG tube to aspirate stomach contents can quickly confirm/exclude
Gastrograffin swallow
Management of TOF and OA?
1st = Replogle tube to provide continuous suction of pooled secretions from the proximal portion of the atretic esophagus.
Antibiotics - ampicillin can also be used
o 2nd = Surgical repair (few days of birth/neonatal) à NICU and ventilator support
What is Biliary Atresia?
blockage in the tubes (ducts) that carry bile from the liver to the gallbladder.
Progressive fibrosis and obliteration of extra- and intra-hepatic trees à chronic liver failure in 2 years
Signs and symptoms of biliary atresia?
Mild jaundice, pale stools, dark urine
N.B. no vomiting
normal birthweight –> faltering growth
hepatosplenomegaly
Investigation for biliary atresia?
1st = USS à triangular cord sign PT / INR
o LFTs (AST, ALT, ALP, GGT raised – biliary) FBC
o GOLD-STANDARD = TIBIDA isotope scan
o CONFIRMATION = ERCP ± biopsy
Management of biliary atresia?
Kasai hepatoportoenterostomy (involves ligating the fibrous ducts above the join with the duodenum and joining an end of the duodenum directly to the porta hepatis of the liver
What are some of the complications of biliary atresia and how are they managed?
growth failure, portal hypertension, cholangitis, ascites
Fat Soluble Vitamins
Ursodeoxycholic acid
Prophylactic Antibiotics to prevent cholangitis
What is small bowel atresia?
Congenital malformation of the small bowel à absence or complete closure of a part of its lumen
Duodenal atresia - associated with polyhydramnios, Down’s
Duodenal stenosis - no vomiting,
Signs and symptoms of small bowel atresia ?
bile-stained vomiting
abdominal distension
Investigations of small bowel atresia?
Bloods – LFT, total serum BR (interpret as uBR), INR, serum amino acids
o Urinary – organic acids, succinyl acetone, bile acids, lactate: pyruvate ratio
o Imaging – AXR, CXR, USS and cholangiogram, Tc-99m scan
Management of small bowel atresia?
ABCDE to stabilise neonate
Surgical - primary anastomosis
Complications of small bowel atresia?
Pulmonary aspiration
o Anastomotic complications (stenosis or leak)
o Proximal bowel may have abnormal peristalsis – may need prolonged post-op TPN
What are Urinary Tract Anomalies?
Congenital structural abnormalities of kidneys, bladder or urethra
Causes of UTA?
Renal:
Multicystic kidneys (AR PKD) Medullary spongy kidney
Renal agenesis
Horseshoe kidney
Non-Renal: Pelvoureteric junction (PUJ) obstruction (2nd to stenosis, atresia of proximal ureter)
o Vesicoureteral reflux (VUR) – in 30% of children presenting with UTIs
o Bladder outlet obstruction
Signs and symptoms of UTA?
antenatally - oligohydramnios
postnatally - irritablity, infections, intra-abdominal mass, haematuria, renal calculi , htn, hepatosplenomegaly
Investigations for UTA?
Renal USS
Genetic karyotyping à Potter sequence
What are Anorectal Malformations?
Low anorectal anomaly – anus closed over, in a different position or narrower than usual + fistula to skin
· High anorectal anomaly – bowel has closed end at high level, does not connect with anus, usually associated with bladder/urethral/vaginal fistula
Signs and symptoms of anorectal malformation?
No/delayed meconium à swollen abdomen, vomiting
If fistula – may pass stool from abnormal area
Investigations for anorectal malformation?
Clinical
Neonatal check
Management for Anorectal Malformation?
Surgical correction by 9m (depending on specific anomaly) à i.e. anorectoplasty + loop stoma
Management for Anorectal Malformation?
Surgical correction by 9m (depending on specific anomaly) à i.e. anorectoplasty + loop stoma
What is Cryptorchidism?
Undescended Testes
RF = prematurity
o Normal descent is by 3m of age however, it can take up to 6m to fully descend
Management of Cryptorchidism?
Unilateral - usually resovles at 6-8 weeks.
if not, surgery required before 6 months
Bilateral - pituitary causes –> refer to paediatricians/endocrinologists for further tests - due to lack of testosterone
Surgical - orchidopexy - a surgery to move a testicle that has not descended or moved down to its proper place in the scrotum
Medical -
