Complicated pregnancy: Abnormal fetal development Flashcards
Abnormal growth and amniotic fluid volume Reduced fetal movements and intrauterine death
What are the objectives/purpose for prenatal diagnosis?
- Detect life threatening or lethal abnormality / abnormality that causes severe mental handicap
- To arrange planned care for diagnosis
- To give option of TOP to parent(s)
How are prenatal fetal abnormalities diagnosed?
History taking
Maternal serum screening
Ultrasound
Invasive procedures
What should you ask in a history for prenatal fetal abnormalities?
Patient details:
* maternal age
* consanguinity - i.e. married to relative or child of parents who have same ancestor
* parents with known balanced translocation
PMH
* maternal diseases - DM? epilepsy?
* Any intrauterine infections? Rubella, CMV, ZIka, Parovirus
Previous obstetric Hx
* previous child with aneuploidy
* genetic disorder
* structural abnormality
DH
* any exposure to any drugs that can cause malformations - antiepileptics? warfarin? vitamin A?
You are in the prenatal diagnosis clinic for fetal abnormalities. What maternal blood screening do you offer?
- haemoglobinopathy: thalassaemia, sickle cell disease
- VDRL screening - this tests for syphilis
- HIV, hep B
- Maternal rhesus antibody
- combined first trimester serum screening - for Trisomy 21, 18 and 13
Between 11 and 20 weeks, what screening is done?
Combined 1st trimester screening = fetal nuchal transluceny (NT), PAPP and bHCG
Serum screening
In 2nd trimester = serum screening and 20 week anomaly scan. Integrated screening - which involves scan and blood test
Describe first trimester combined screening
- Assess risk being born with Down’s (Trisomy 21), Edwards (T18) and Patau’s (T13)
- is given for both singleton and twin pregnancy
- given as an option to women to choose to have screening for all 3, for just downs, or just edward’s and patau’s
What is antenatal ultrasounds used for?
- Dating of pregnancy
- Nuchal translucency
- look at fetus response to raised maternal AFP
- Routine anomaly scan
- check if small for date, look for polyhydraminos, oligohydraminos, reduced fetal movements
Main reasons for doing a 1st trimester ultrasound?
- check viability
- accurate dating of pregnancy
- twin determination and chorionicity
- detect any fetal abnormalities - e.g anencephaly, large anterior abdo wall defects, cystic hygroma
- measure nuchal translucency
A detailed Ultrasound scan is done between 18-20wks. What does this check for?
- viability
- measurements of growth
- liquor volume (the volume of fluid around the baby)
- fetal anatomy
- placental location
- assessment of normal variants for aneuploidy (chromosomal abnormalities) and fetal growth
What should you report from a scan (when looking at normal varient screening)?
- If nuchal fold is >6mm
- If there is ventriculomegaly >10mm
- Echogenic bowel (bowel shows up as bright as bone on scan)
- Renal pelvis dilatation (could be fetal hydronephrosis)
- Size < 5th centile on national charts
Following an USS of fetus, if you suspect a fetal abnormality, what can you do next?
Invasive procedures
Name some invasive procedures that can be done following abnormal findings in fetal scan
Amniocentesis
Chorion villus sampling
Fetocide
Aspiration from fluid filled fetal cavities
Amnioreduction/amniodrainage
What is amniocentesis?
Take sample of amniotic fluid and testing it
What is chorion villous sampling?
Take sample of placental tissue (the choronic villus) and test it
What are indications for amniocentesis or chorion villous sampling?
Assess fetal karotype (chromosome make up) because of:
- maternal age
- high risk for aneuploidy screening
- abnormal ultrasound findings
- parental translocation
- maternal request
Molecular genetic testing:
- autosomal dominant/recessive conditions
Virology screeb
- to assess for fetal infections - CMV
Describe amniocentesis
- weeks of gestation?
- how is it done?
- what’s done with sample?
- Ideally done after 15wk gestation
- To be performed under direct USS guidance
- 15-20 ml aspirated using a 22G needle
- From this aspirate, get culture of amniocytes, harvesting and anding - do PCR/FISH
What are risks of amniocentesis you should inform parents about before procedure?
- Risk of miscarriage - 0-5-1%
- risk of preterm delivery
- risk of chronic liquor leak
Describe chorion villus sampling
- weeks of gestation?
- how is it done?
- what is done with sample?
- after 10 weeks ideally
- USS guided with continuous visualisation of needle tip
- Transabdominal/transcervical
- sample is sent for cytogenics/molecular genetics
What risks of chion villus sampling should you inform parents about before the procedure?
- risk of miscarriage is 1%
- risk of culture faiure is 1%
- risk of mosaicism 1% (i.e. can get mitotic mutations in chromosomal makeup during development)
What is fetocide?
(sometimes spelt feticide)
Termination of pregnancy following fetal abnormality
Usually detected at anomaly scan at 20-22wks gestation
What is preimplantation genetic diagnosis (PGD)?
Analyse individual blastomeres of the embryo in 8 cell stage or in polar body of oocyte
Usually done for v difficult and complex situations in families with X linked conditions
Indications for preimplantation genetic diagnosis (PGD)?
- when there is known balanced parental translocation
- increased materal age
- familial history of x linked recessive disorders
What is non-invasive prenatal diagnsosis?
- check fetal genome
- by identifying and analysing fetal cells that are in the maternal circulation or free fetal DNA in the maternal plasma
- less invasive
- can predict fetal rhesus phenotype from maternal plasma
- can predict fetal sex
- can detect any fetal aneuploidy (abnormal chromosomes)
When looking at scan of miltple pregnancy, what should we look for?
- chorionicity
- fetal gender
- number of plaentas
- characteristics of membrane between two amniotic sacs (if two are present)
- nuchal translucency measurement
- fetal abnormality
What sign would you see in dichorionic diamniotic twins? picture below:
Lambda sign
What is twin-to-twin transfusion syndrome?
a prenatal condition in which twins share unequal amounts of the placenta’s blood supply resulting in the two fetuses growing at different rates.
5-15% are monochorionic twins
without treatment = 80-100% mortality
surviors have high risk of being handicapped
How can fetal growth be assessed in the antenatal period?
2 clinical examination methods are used:
- abdo palpation of fundal height - this does not have high sensitivity (20-30%)
- symphysis-fundal height measurement using a measuring tape
USS assessment - look at head circumference, abdo circumference, femur length (these are key anthropometric measurements). Sensitivity = 90-95%
From what gestational age is symphysis-fundal height measurment done ?
24 weeks
Define small for dates /SGA
Describes anthropometric variables below the 10th population centile for gestational age.
Does to imply presence or absence of pathology
Based on gestational population centile chart
Define large for dates / LGA
Describes anthropometric variables above the 95th population centile for gestational age
Does to imply presence or absence of pathology
Based on gestational population centile chart
Main reason for small babies?
Fetal growth resistriction
What is a growth restricted fetus?
One that has failed to reach its genetic growth potential