Fetal medicine Flashcards
(23 cards)
Gastrochisis
What is it, implication
What : hole in the abdomen near the belly button, allows organs in the tummy e.g. intestines to come out of the body and into the fluid surrounding the baby
Implication: Needs delivery in specialist center and will need surgery after birth, most babies have good outcomes but a small increased risk of the baby not surviving the pregnancy so the pregnancy needs to be looked after very carefully
Gastroschisis - Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Genetic/aneuploidy: No increased risk of DNA problems in the baby. Increased risk if smoker/young woman
Tests: Detailed USS and serial growth scan
Teams: FMU, Fetal medicine MDT, paediatric surgeons, support groups/counselling
Pregnancy risks: IUGR, 2-4% risk stillbirth, spontaneous or iatrogenic preterm birth
Treatment: IOL by 38/40, tertiary care, can have SVD, intestines wrapped/nasogastric tube, surgery - risk of small bowel syndrome
Recurrence risk: none
Exomphalos
what is it, implication
What: a hole near the belly button where a sac is protruding allowing organs in the baby like the intestines and the liver to protrude out of the baby
Implications: In some babies this may be a problem that can be treated with surgery after the baby is born but in other babies it can be a sign of a serious problem with the babies DNA and some babies may not survive the pregnancy or the first year of life
Exomphalos
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Genetic/aneuploidy: 50% associated with aneuploidy or Beckwidth Wiedmann syndrome
Tests: Detailed FMU scan and fetal echo (50% have cardiac defects), CVS or amniocentesis, serial scans (growth and % liver involved)
Teams: FMU, fetal medicine MDT, paediatric surgeons, suport groups counselling, ARC team
Pregnancy risks: IUGR, stillibirth
Treatment: Option for TOP if DNA/other abnormalities, Delivery by 38/40 at tertiary care centre, c/s recommended if >75% liver involvement, wrap bowel, nasogastric tube, surgery
Recurrence risk: no increased risk if isolated, increased risk if aneuploidy or genetic
Congenital pulmonary cystic airway malformation
What is it
Implications
What - CPAM = fluid filled sacs called cysts are occupying space in the chest where the babies lungs are
Implication: in some babies these cysts are small, may resolve on their own or cause some breathing problems for the baby when it’s born, but in other babies these cysts can grow large and some babies may not survive the pregnancy (hydrops)
CPAM
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: none
Tests: Detailed FMU scan, serial growth scans
Teams: fetal medicine, MDT, paediatric surgeon, support/counselling
Pregnancy risks: polyhydramnios (preterm birth/c-section), hydrops and consequent stillbirth
Treatment: delivery in tertiary unit, Can have SVD, del by 38/40, respiratory support may be required, postnatal chest x-ray, may need surgery
Recurrence: none
Duodenal atresia
What is it?
Implication?
What: There is a blockage between the babies stomach and their intestines which is preventing the baby from swallowing the water surrounding it
Implication: This can be treated after the baby is born with surgery but in some babies there are other problems such as heart problem or it can be a sign that the baby has a serious problem with it’s DNA such as Down Syndrome
Duodenal atresia
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: 30% T21
Tests: Fetal medicine scan, fetal echo, amniocentesis
Teams: FMU/MDT/paediatric surgeons, support groups, counselling, ARC
Pregnancy risks: Polyhydramnios, PTB, malpresentation, c-section
Treatment: option for TOP if other abnormalities of T21, del by 38/40, tertiary centre, NG tube for feeding, postnatal surgery
Recurrence: low if isolated, increased if T21 (1%)
Talipes
What
Clinical implication
What is it: clubfoot, the babies foot is growing in an abnormal direction
Implication: the outlook is usually very good and the baby can be treated after birth with no longstanding disability. However in some babies this is associated with a serious DNA problem and if this the case the baby may have significant physical and mental disabilities and some babies may not survive
Talipes
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: >50% isolated, but associated with T13, T18 and many genetic syndromes and other malformations
Tests
Detailed fetal medicine scan, amniocentesis
Teams:Fetal medicine/ MDT, paediatric surgeons, support groups, counselling, ARC
Pregnancy risks: none if isolated
Treatment: Ponsetti method after delivery, only 10% will need surgery and only 3% of those will need more than one surgery
Recurrence: increases with number of siblings/family members affected
Holoprosencephaly
What is it?
Implication
What?
Abnormality with the babies brain development. Normally the brain divides into two sides but the scan is showing the the babies brain has not properly divided
Implication: this condition can be associated with serious DNA problems in the baby and some babies do not survive, those that do survive are likely to have problems with their development and may have severe physical, learning and visual impairment
Holoproscencephaly
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: >50% trisomy, 20% genetic syndromes
Tests
Detailed fetal medicine scan, CVs/amniocentesis, MRI
Teams
Fetal medicine, MDT, neonates/palliative care, support groups/counselling, ARC
Treatment
No cure, palliative care if alobar, semilobar, specialist neurodevelopmental support if lobar
Recurrence
6% isolated, 1% trisomy, up to 25% if genetic
Anencephaly
What is it?
Implication
What is it: part of the babies skull and brain has failed to develop
Implication: Unfortunately this is a condition that is fatal for the baby, the baby may not survive the pregnancy and if it does it is expected to die within first days to weeks of life
Anencephaly
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: Unlikely to be associated with genetic or chromosomal abnormalities, associated with folic acid deficiency/drugs like anti-epileptics/other causes of CNS defects
Tests: detailed FMU scan +/- CVS/amniocentesis
Teams: FMU/MDT/paediatric palliative care/ARC/support groups and counselling
Pregnancy risks: polyhydramnios, PTB, malposition, emergency c-section
Treatment: no cure or treatment, TOP offered
Recurrence: 1 in 25 risk of neural tube defect, 5mg folic acid
Ventriculomegaly
What is it?
What are the implications?
What?
All humans have some fluid around the brain to cushion the brain from injury but in your babies case the scan shows that there is an abnormally high level of fluid around the brain
Implication: sometimes this is mild/normal variant and is of no significance but in some babies this is a sign of a significant problem either caused by infection, a problem in brain development or due to a serious problem with the babies DNA, if this is the case it can lead to severe learning and physical disabilities in the child and can affect the babies life expectancy
Ventriculomegaly
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: most common idiopathic but can be associated with trisomy, genetic syndromes, maternal anti-platelet antibodies, infection
Tests
Detailed FMU scan
TORCH screen
Maternal anti-platelet antibodies
MRI > 32 weeks
4 weekly uss to monitor
Team: FMU/ MDt, paediatric neurosurgeons, counselling, ARC
Pregnancy risks: If very large may require c-section
Treatment: tertiary care delivery, consideration for a shunt - usually done once the baby is born, may need c/s, CT/MRI brain, paediatric neurodevelopmental follow up
Recurrence: depends on cause, Infection/isolated= no increased risk, alloimmune thrombocytopaenia = 100% if no treatment, 50% if X linked hydrocephalus, 1% if trisomy
What does TORCH screen consist of?
Used to be toxo, CMV, rubella and herpes but no longer done
Now: toxoplasmosis, CMV, rubella, parvovirus +/- syphyllis/listeria
Dandy Walker Malformation
What is it?
Implication
What: all humans have fluid surrounding the brain to cushion the brain from injury. On the scan there is evidence of excess fluid at the back of the brain (4th ventricle) which affecting the growth of the back of the brain
Implication: this can lead to severe mental and physical disability in the baby and in some cases if there is an underlying DNA problem it can be fatal for the baby
Dandy Walker Malformation
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: with trisomies 30%, genetic syndromes, other abnormalities (brain/heart/GI) >50%
Tests
Detailed USS FMU
CVS/Amnio
MRI >32 weeks
USS 4 weekly monitoring
Teams: FMU/MDT, neonates, counselling/support groups, ARC
Pregnancy risks: c-section
Treatment:tiary care delivery, consideration for a shunt - usually done once the baby is born, may need c/s, CT/MRI brain, paediatric neurodevelopmental follow up
Recurrence: isolated: 2-5%, trisomy 1%
Cleft lip/palate
What is it?
Implication
what?
A gap in the babies lip and/or the roof of their mouth
Implication: this can result in feeding problems at birth and the baby will need surgery after birth, it can also be a sign of a serious underlying DNA problem and the baby may have other serious problems with it’s health
Cleft lip/palate
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: trisomy 1-2%, 30% genetic, association with drugs (anti-epileptics/recreational)
Tests
Detailed FMU scan
Amniocentesis
Teams: FMU/MDt, surgeons, CLAP association, dental, hearing/ENT support risk of recurrent ear infections, speech support
Pregnancy risks: none - standard obstetric care
Treatment: Postnatal surgery, feeding support, orthodontics, speech therapy, ENT
Recurrence: increased if other children have been affected
Choroid plexus cyst
What is it?
What are the implications?
What: small water filled sac called a cyst in part of the brain
Implication: in most babies this is a normal variant and has no implications for the babies health, however if there are other abnormalities (soft markers) the baby may have an underlying DNA abnormality such as Down’s syndrome
Choroid plexus cyst
Association with genetic/aneuploidy, tests, teams, pregnancy risks, treatment, recurrence
Association: if no other soft markers then of no significance, if other soft markers present then may be trisomy
Tests: detailed FMU scan
Teams: FMU
Pregnancy risks: if isolated none
Treatment: if isolated none
Recurrence: isolated none
