Congenital and Chromosomal Abnormalities Flashcards
If baby has external, internal organs…
soak sterile gauze in saline, cover with bandage/saran wrap
EMERGENT. Transport to hospital
Signs of chromosomal abnormalities
microcephaly
upward slanting eyes
Simian crease
muscular hypotonicity
Signs of congenital anomalies
hydrocephaly microcephaly anencephaly cranioynostosis spina bifida cleft lip
Trisomy 21: Down’s: Signs and Sxs
(1: 7000 births
1: 150 pregnancies)
placid, IQ~50, microcephaly, flattened occiput epicanthal folds, upward slant eyes Brushfield spots (on edges of iris) large protruding tongue without central fissure broad flattened ridge of nose hypotonicity Simian crease Clinodactyly (curved pinky) Heart Dz GI anomaly (eg duodenal atresia) delayed puberty
Trisomy 18: Edward’s: Signs and Sxs
(1:6000 births
95% abort early)
SGA, feeble fetal activity small placenta, 1 umbilical a weak cry hypoplasia of muscle, hopotonia microcephaly, micrognathia low set, malformed ears clenched fist: 2nd and 5th overlap 3rd and 4th~pathognomonic hypoplastic nails, hypoplastic thumb VSD cryptochidism
Trisomy 13: Patau’s Syndrome
1:10,000-20,000
MIDLINE ANOMALIES
microcephaly, sloping forehead
Holoproscencephaly
myelomeningocele
micropthalmia, colobomas (fissures of iris)
capillary hemangiomas on forhead, pos neck
cleft lip/palate
low set, malformed ears
Simian crease
Rocker bottom feet
Dextrocardia, VSD, patent ductus arteriosus
Hydrocephalus
excess CSF in ventricles
caused by obstrution, excess production, impaired absorption
Labs/imaging: dx by Xray/CT; electroencephalogram, screen for infxs dz
TX: Surgical, refer to neurosurgeon
Craniosynostosis
premature fusion of two or more cranial sutures
Holoproscencephaly
failure of forebrain to divide properly
cyclopia, flat nose, single incisor, delayed milestones
Encephalocele
protrusion of brain tissue through suture
Spina bifida
800 mcg folate preconception or prenatally to prevent!
Occulta- dimple or hairy patch
Meningocele- covered by membrane, risk of infection and hydrocephaly. SURGERY
Myocele/Myelomeningocele- dont feed because will need SURGERY. lumbosacral mass, patulous anus (distended/wide open)
Esophageal atresia
polyhydramnios often present
Tracheoesophageal fistula
absence of stomach bubble on US
sxs: drooling, cyanosis, resp distress
Hypertrophic pyloric stenosis
presents at 4-6 weeks
forceful projectile vomiting
pylorus feels like an almond
Meconium plug
sxs: ab distension, vomiting
RFs: diabetic mom, toxemic mom
Meconium ileus
abnormally thick meconium obstructs ileum
sxs: palpate thick loops of intestines, ab distension, vomiting, volvulus, cyst
~100% assoc with CF
Hirschsprung’s Dz
absence of Meissner’s and Auerbach’s plexuses
sxs: obstination, distension, V
TX: removal of aganglionic portion of colon
Imperforate anus
assoc with 1 artery cord
may have assoc fistula
Omphalocele
midline defect at umbilicus- abdominal viscera protrudes, covered by membrane
COVER
EMERGENT transport
nothing po
Gastrochisis
same as omphalocele but no membrane
GU Anomalies
most common anomaly
Horseshoe kidney
kidneys fused at lower pole
Pancake kidney
kidney is a single mass with 2 collecting systems
Renal agenesis
unilateral or BL absence of kidney
(assoc with Potter syndrome) Pulm hypoplasia Oligohydramnios Twisted face Twisted skin Extremity defects Renal failure
Exstrophy of bladder
exterior bladder in suprapubic region
Urethral anomalies
epispadias: dorsal. RARE
hypospadias: ventral.
Environmental causes of congenital anomalies
hypoxia
infection: TORCH
radiation
drugs- OTC, Rx, street, alcohol
Agenesis of corpus collosum
hypotonia, poor swallowing, poor motor coordination
Hydranencephaly
cerebrum almost absent but skin/bones intact so fluid fills space
Cleft lip/palate causes
teratogens, vit A def, antihistamine use, idiopathic
associated with Pierre Robin syndrome- wide cleft palate + migrognathia
Diaphragmatic hernia
sxs: cyanosis, scaphoid ab, bowel sounds in thorax
Xray: opaque/lucent pockets in bowels
Malrotation of bowel
complications: obstruction from retroperitoneal bands or volvulus
choanal atresia
Congenital disorder where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue
