Flashcards in Foetal development and growth Deck (40)
What happens in week 1 (clinical gestation week 3)?
Sperm and ovum join = fertilisation
Forms into a morula then a blastocyst which then implants into the endometrial wall
What happens in week 2 (clinical gestation week 4)?
Bilaminar germ discs form = epiblast/hypoblast
What happens in week 3 (clinical gestation week 5)?
Trilaminar germ disc forms
- Ectoderm/Mesoderm/Endoderm - from these 3 layers all the rest of the body can form
- Neurulation - by end of 4th week
When does folding of the embryonic disc occur and what ways does it fold?
Flat trilaminar disc to cylindrical embryo
- cephalo-caudal folding
- lateral folding
What happens in the embryonic period?
Establishment of main organ systems
Post-fertilisation week 3-8 (clinical gestation 5-10 weeks)
What happens in the foetal period?
Maturation and growth of tissues and organs
Post-fertilisation weeks 9-38 (clinical gestation 11-40 weeks)
What are the different types of birth defects?
Developmental disorders present at birth
- structural = congenital anomaly
- functional = organ dysfunction
- metabolic = enzyme/cellular defect
What are the causes of birth defects?
- interaction between genetic constitution and environmental factors
What are some different causes of congenital anomalies?
- incomplete or abnormal formation of structure
- complete of partial absence of a structure
- alteration of its normal configuration
- morphological alterations of already formed structure
- destructive process e.g. amniotic bands
- mechanical factors e.g. positional talipes
What are some different causes of chromosomal/genetic issues?
Multi-organ involvement - usually lethal /significant defect
- group of anomalies with a specific known cause eg. Down's Syndrome
- abnormalities which tend to occur together but the cause is not determined e.g. CHARGE
- when a defect leads to a cascade of further abnormalities e.g. potters sequence - baby doesn't have any kidneys and this subsequently means no urine is produced, leading to no amniotic fluid and this leads to multiple abnormalities
What are the clinical features of Down's syndrome?
- craniofacial appearance = flat nasal bridge, upslanted palpebral fissures, epicanthic folds, brushfield spots
- single palmar crease and wide sandal gap
- Congenital heart defects - 40%
- Duodenal atresia
- variable learning difficulties
- Alzheimer's / Malignancy
What are the different genetic causes of trisomy 21?
Non-disjunction - 94-95%
What are the determining factors of a teratogenic birth defects?
Genetic constitution of the embryo
What are some different types of teratogens?
Drugs - alcohol, cocaine, thalidomide, anticonvulsants, antipsychotics
Environmental factors - organic mercury, lead
Infectious agents - rubella, CMV
Radiation - high levels of ionising radiation
Maternal factors - SLE, poorly controlled pre-existing DM
Mechanical factors - malformed uterus, oligohydramnios, amniotic band
Based upon the timing of the foetus' life, what impact does insult to teratogens have on the foetus?
Prior to post-fertilisation week 2
- either a miscarriage or no effect
Organogenesis period (weeks 3-8)
- period of greatest sensitivity to malformation
- different organ systems have different periods of peak sensitivity
- leading to birth defect
Foetogenesis period (weeks 9-38)
- main effect on growth and functional maturation
- usually not leading to birth defect
What is omphalocele?
Abdominal wall defect
- transparent sac of amnion attached to umbilical ring containing herniated viscera
1 in 4,000 births
Persistence of embryonic midgut herniation
60% associated with other abnormalities
20% chromosomal abnormalities e.g. Edwards
What is gastroschisis?
Abdominal wall defect
- Evisceration of foetal intestine through a paraumbilical wall defect - to the R of the umbilicus
- 1 in 4,000 births but increasing
- Possible origins: involution of right umbilical vein or right viteline artery, abnormal body wall folding
- associated with young mums, smoking and drug use
- good prognosis after surgical correction
How can you detect for congenital anomalies ?
- screening e.g. down's syndrome
- pre-implantation genetic diagnosis
- invasive testing and non-invasive testing: single gene disorders, chromosomal abnormalities
- Detailed foetal anomaly scan for structural anomalies - week 20
What are the 2 examples of non-invasive prenatal testing (NIPT) for Down's syndrome and how effective are they?
Shotgun = 98.6-100% detection rate
- false positives= 0.2-2.1%
- No results rate = 0.8 -3.9%
Targeted = 99.5-100% detection rate
- false positives = 0-0.3%
- no results rate = 0.8-4.6%
What is foetoscopy?
foetoscopic laser ablation for foeto-foetal transfusion syndrome
What is foetal blood sampling used for?
Foetal haemoglobin for anaemia
Foetal infection serology
Foetal blood transfusion
What is encompassed in chorionic villus sampling?
Chromosome/microarray and DNA analysis
Enzyme analysis of inborn error of metabolism
What is pre-implantation genetic diagnosis ?
In-vitro fertilisation allows genetic analysis of cells from a developing embryo before transfer to the uterus
What is non-invasive genetic diagnosis?
Free foetal DNA obtained from maternal blood for identification of foetal gender and rhesus status
What is amniocentesis?
Chromosome/Microarray analysis and DNA analysis
Foetal infection - PCR for CMV, Taxoplasmosis, rubella and parvovirus
What are some other more risky foetal therapies?
Foetal surgery for spina bifida
- reduces need for shunting and motor function but significant risk to foetus and mother
Tracheal occlusion in congenital diaphragmatic hernia
What is cleft lip and palate?
End of 4th week face is formed from 5 prominences, nasal pit forms and the maxillary prominence gets larger and expands moving towards the midline, natural fusions points between the maxillary prominence and medial nasal prominence
If these prominences don't form properly it can lead to cleft lip
-Difficult to see cleft palate ante-natally much easier to see cleft lips
- Very good cosmetic results after surgery
- can be more complex and associated with other abnormalities or it can have no other associated problems
What are some methods of preventing birth defects?
Vaccination e.g. rubella
Avoidance of teratogenic drugs/substances
Folic acid to decrease neural tube defects
Nutrition e.g. iodine
Optimise disease control e.g. diabetes
Pre-natal genetic diagnosis
intrauterine growth restriction
- failure of foetus to achieve his or her growth potential