3 - Obs - Screening tests - Structural Abnormalities Flashcards
CNS abns - NTDs
-failure of ? . Neural tissue often exposed > ? . <1/200 pregs affected, incidence ? . Eg ?? (severe disability common but not invariable), ?(incompatible with life). Pre-conceptual ? supplements for ?m (0.4mg/day) reduce incidence, taken by all women considering preg. ???incr in open NTDs, ? at 18-21wks has >95% sens. NTDs recur in 1/10 pregs, but ? by higher dose ??. Recent data suggests ? disability from NTDs where ? surgery done in ?.
closure degeneration decreasing spina bifida anencephaly folate 3 AFP USS reduced folic acid reduced open utero
Cardiac Defects and Fetal Echocardiography
?% pregs. More common in women w ? cardiac disease, ?, when ? ? have been affected (? risk 3%) and where other ? present. In 50% of major abnormalities the ?? was increased at 11-14wk scan. USS can be used to ?
Often at ? w scan. In practice <1/3 cases diagnosed ?. Most non-lethal, others correctable w ? after birth. In utero trt possible for ? (eg digoxin) and occasionally using ? for critical ? stenosis or ? Left Heart.
1% congen DM prev offspring recurrence abnoms nuchal trans diagnose 20 prenatally surgery arrhythmias valvoplasty aortic hypoplastic
Abdominal wall defects
?, charac by partial extrusion of abdo contents in ? sac. 50% have ? problem and ?
offered. Isolated small defects have ? prog after surgery ?.
? , charac by free loops of bowel in ? cavity and ? ass w other abnormalities. More common when ? v young. Postnatal surgery -> >90% ?.
exomphalos peritoneal chromo amnio good postnatally gastroschisis amniotic rarely mother survive
Chest defects -
Congenital ? Hernia: cause ? ? to herniate into ? > pulm hypoplasia. Ass anomalies common. Approx 60% w ?
defects survive – may be improved in ? cases w in utero ? occlusion (FETO).
? Effusions: May cause pulm ?
and ?. In utero ? is useful.
Congen Cystic Adenomatous Malformations and Pulm Sequestration: Visible or ?
chest masses of varying ?. Prog usually ?.
diaphragmatic abdo contents chest isolated severe tracheal pleural hypoplasia hydrops shunting cystic sizes good
GI defects
Oesophageal ? and TOF: stomach non-? or small. ? is present.
? Atresia: Double bubble of ?
and dilated ? duodenum. Down’s v common. ? occurs.
Lower ? atresia: causes ?bowel +/- polyhydramnios. ?
ileus due to ? common.
atresia visible polyhydramnios duodenal stomach upper polyhydramnios gut dilated meconium CF
Urogenital defects -
? : mild to severe, unilat or bilat, due to ? or reflux. Children prone to ? and ?
damage, postnatal ? needed.
Post ? valves: obstruct ?urethra > oligohydramnios, ?and renal dilatation and ?, ranging from ? to renal failure in early ? . Trt w in utero ?
hydronephrosis obstruction infection renal Ix urethral male bladder damage lethal adulthood shunting
Skeletal defects -
Skeletal ? : syndromes affect ?. Abnormalities of the digits, ? length and appearances, and ? of other abnormalities aids differentiation. Where ?
eg thanatophoric dysplasia, the chest is ?.
Isolated limb abnormalities: Often due to ? bands, ?deformities involving the amnion.
dysplasia limbs bone pattern lethal small amniotic constriction
Fetal Hydrops
When ? fluid accum in 2 or more area in the ?. Occurs in 1/500 pregs, has high ? , is ?
in late preg. Can be ‘?’ due to anaemia and ? due to Abs inc ? disease. Or ‘non-?’ 2’ to other
excess fetus mort rarer immune haemolysis rhesus immune
5 main categories of fetal hydrops?
chromo abns - tri21 structural abns - pl eff cardiac abms/arrhythmias anaemia - causing Cardiac failure Twin twin transfusion syndrome (monochorionic)
Fetal hydrops
Invx: USS, ? and assessment of middle ? aa. Maternal ?
taken for kleihauer and parvovirus, ? and ? IgM testing. Fetal blood sampling done if ? suspected. Amnio done for ? . Trt and prog depends on ? , cure only poss if ? or compression by ? collection eg pleural effusion are the cause.
echo cerebral blood CMV and Toxo anaemia karyotyping cause anaemia fluid
