Structural Birth Defects Flashcards
What is the most common congenital brain defect & what outcomes are seen in children
Agenesis of the corpus callousum, mild learning difficulties & normal intelligence to more severe such as cerebral palsy, intellectual disability, seizures, more severe learning disabilities
What is a dandy walker malformation & what symptoms are seen in children
Brain malformation with cerebellum & fourth ventricle - underdevelopment of middle part of cerebellum & cystic enlargement of fourth ventricle & posterior fossa
Developmental delays, hypotonia, spasticity, ataxia, seizures, respiratory issues, microcephaly ( ID in about 50%)
What causes a dandy walker malformation
Anueploidy, CNVs, single gene disorder, or unknown
What is holoprosencephaly & what symptoms are seen in children
Failure of forebrain to develop & separate into two halves
ID, seizures, microcephaly, hydrocephalus, tooth abnormalities, clefts, endocrine abnormalities, most severe with cyclopia
What can cause holoprosencephaly
Maternal diabetes, anueploidy most commonly t13, single gene disorders, unknown
1/3 with chromosome anomalies
What symptoms are associated with microcephaly & what causes it
Delays or ID, failure to thrive, poor feeding, ataxia, abnormal muscle tone, speech delays, seizures, facial deformities, vision or hearing
Aneuploidy, CNVs, single gene disorders, infection , maternal PKU, trauma, unknown
What is a neural tube defect & what symptoms are associated
Opening in spine due to failure to close in development
Loss of feeling, weakness or paralysis in legs, bladder or bowel control problems, hydrocephalus, learning difficulties
What causes neural tube defects
Usually multi factorial, aneuploidy, CNVs, poor folic acid intake, diabetes or obesity, teratogens, maternal fever
When does cleft lip occur in development
4-7 weeks gestational age
What fetal sex is more likely to have isolated cleft palate
Females 2:1
What causes cleft lip with or without cleft palate
Usually multi factorial, can be caused by aneuploidy & single gene disorders
What type of cleft lip is associated with which aneuploidy
Median cleft lip is associated with trisomy 13
What conditions are associated with cleft lip & palate
Stickler syndrome, trisomy 13 & 18, van Der woude syndrome, teacher collins, Pierre robin sequence, 22q
What percentage of cardiac defects are picked up on general ultrasound
40%
What percent of babies with t21, t18, t13 have birth defects
50%, 85-90%, 80%
What is congenital pulmonary airway malformation
Rare abnormal bronchial proliferation that results in cysts or masses - micro cystic or macro cystic
What is a congenital diaphragmatic hernia & what is it associated with
Hole in diaphragm allowing abdominal organs into chest
30% have other anomalies
Fryns syndrome, pallister killian syndrome, trisomies
What is tracheoesophageal fistula associated with
VACTERL, CHARGE, pallister hall, 22q, trisomy 18/13/21
50% have another birth defect
What is duodenal atresia & what is it associated with
Duodenum isn’t formed correctly, also called double bubble sign
20-30% associated with t21, also seen with other birth defects, polyhydramnios, low birth weight, premature birth
What is meconium ileus & what is it associated with
Obstruction of bowel because meconium is thicker & sticker than normal & gets stuck in ileum
20% have cystic fibrosis
When are abdominal wall defects usually diagnosed
10-14 weeks gestational age
What are the differences between omphalocele & gastroschisis
Omohalocele -usually in center, membrane covered, 50% aneuploidy, 1/3 BWS
gastroschisis - usually to right, no membrane, rarely associated with other birth defects or conditions
What are the differences between multi cystic & polycystic kidney disease
Multi- usually large cysts that do not connect, no renal pelvis present on exam, not usually inherited, kidneys do not work & often lethal if bilateral, can be associated with other anomalies
Poly- usually appears echogenic & enlarged on ultrasound, single cysts not identifiable, varying onset, can be PCKD, potter sequence, Mencken gruber
What percent of renal agenesis has a genetic cause
1-2% chromosome anomaly, 10% genetic condition: Fraser, VACTERL, MURCS association
What type of twins can have twin to twin transfusion syndrome & why
Monochorionic twins, because they share a placenta
What symptoms do the receipt & donor twins have in TTTS
Recipient-polyhydramnios, cardiac enlargement or failure, hydrops, thickened blood, overall worse outcome
Donor - oligohydamnios, risk of organ failure, growth restriction
