Congenital Abnormalities Flashcards
What is Down’s Syndrome?
- Extra chromosome 21
- Causes learning disability, distinct physical characteristics and increased risk of other health conditions (e.g. heart condition, hearing and vision problems)
How is Down’s Syndrome diagnosed?
Antenatal screening (CVS or Amniocentesis)
What is the treatment for Down’s Syndrome?
- Cannot be cured
- Therapy to help with speech, motor skills etc
- Usually need care for their whole life
What is Edward’s Syndrome?
- Extra chromosome 18
- Causes defects in the brain, heart, craniofacial structures, kidneys and stomach
How is Edward’s syndrome diagnosed?
Antenatal screening (CVS or Amniocentesis)
What is the treatment for Edward’s Syndrome?
- Average life expectancy is <2 months
- Can undergo surgery and/or therapies to ease their symptoms
What is Spina Bifida?
- A gap in the spine due to underdevelopment in utero
- Causes weakness/paralysis of legs, bowel and urinary incontinence and loss of skin sensation in legs and buttocks
How is Spina Bifida diagnosed?
Anomaly scan at 20/40
What is the treatment for Spina Bifida?
- Surgery soon after birth to close the spine
- Treat hydrocephaly
- Assistive devices and mobility equipment
- Treatment for bowel and urinary problems
- Most people can lead a normal life
What is Anencephaly?
- Brain and bones of skull don’t develop properly
- Specific underdevelopment of the cerebellum which controls thinking, movement and senses
How is Anencephaly diagnosed?
Anomaly scan at 20/40, Amniocentesis or MRI scans
What is the treatment for Anencephaly?
There is no treatment - the condition is not compatible with life
What is Hydrocephaly?
- Fluid on the brain, causing pressure and damage
- Can be caused by spina bifida or from an infection in pregnancy
How is Hydrocephaly diagnosed?
Brain scans
What is the treatment for Hydrocephaly?
A shunt is surgically implanted in the brain to drain excess fluid
What is Microcephaly?
- Head circumference smaller then normal due to underdevelopment of brain
- Causes delayed motor and speech functions, mental retardation, seizures, balance and coordination problems etc
How is Microcephaly diagnosed?
Anomaly scan at 20/40
What is the treatment for Microcephaly?
Only treatment available is to decrease the impact of associated deformities and neurological disabilities
What is a cleft lip/palate?
- A gap/split in the upper lip and/or roof of the mouth
- Causes difficulty feeding and hearing, speech and dental problems
How is a cleft lip/palate diagnosed?
Anomaly scan at 20/40 or during the NIPE
What is the treatment for a cleft lip/palate?
- Surgery at 3-6 months (cleft lip)/ 6-12 months (cleft palate)
- Feeding support
- Speech and language therapy
- Monitor hearing
What is Gastroschisis?
An abdominal wall defect in which the intestines develop outside of the body
How is Gastroschisis diagnosed?
USS
What is the treatment for Gastroschisis?
Intestines are wrapped in cling film and then surgery when possible to replace them
What is Exomphalos?
An abdominal wall defect in which some organs (e.g. liver and intestines) grow inside the umbilical cord
How is Exomphalus diagnosed?
USS
What is the treatment for Exomphalus?
Surgery
What is a Diaphragmatic Hernia?
A condition involving a hole in the diaphragm, sometimes causing part of the intestines and other organs to move into the chest and squash the lungs, inhibiting their development
How is a Diaphragmatic Hernia diagnosed?
USS or chest x-ray due to baby struggling to breathe efficiently
What is the treatment for a Diaphragmatic Hernia?
Surgery
What is Oesophageal Atresia?
- A condition where the upper part of the oesophagus is not connected to the lower part
- Associated complication = Tracheo-oesophageal fistula
What is a Tracheo-oesophageal Fistula?
The lower part of the oesophagus is attached to the trachea, meaning air could pass into the stomach and stomach acid could pass into the lungs
How is Oesophageal Atresia diagnosed?
Indicated by polyhydramnios or baby struggling to breathe/swallow
What is the treatment for Oesophageal Atresia?
Surgery
What is Duodenal Atresia?
A condition in which the duodenum is closed off
How is Duodenal Atresia diagnosed?
USS or babies who are sick after feeding with green vomit
What is the treatment for Duodenal Atresia?
Surgery
What is a Patent Ductus Arteriosus?
A hole in the heart caused by the ductus arteriosus not closing at birth, causing difficulty breathing and possible heart failure
How is a Patent Ductus Arteriosus diagnosed?
A heart murmur will be heard and then it is confirmed by an ECG
What is the treatment for a Patent Ductus Arteriosus?
Surgery
What is a Ventricular Septal Defect?
A form of congenital heart disease where there is a hole between the 2 ventricles
How is a Ventricular Septal Defect diagnosed?
USS or indicated by baby struggling to breathe, having problems feeding or frequent chest infections
What is the treatment for a Ventricular Septal Defect?
Can close on its own but may need surgery and medication to get rid of excess fluid
What is Transposition of the Great Arteries?
A condition where the pulmonary artery and the aorta are in each other’s place
How is Transposition of the Great Arteries diagnosed?
USS or indicated if baby becomes increasingly blue, breathless and difficult to feed
What is the treatment for Transposition of the Great Arteries?
- Medication (prostaglandin) to keep foetal circulation open
- Balloon septostomy (making the hole between the atria bigger)
- Surgery
What is Tetralogy of Fallot?
4 conditions combined:
- VSD
- Over-riding aorta
- Pulmonary stenosis
- Right ventricular hypertrophy
What is an over-riding aorta?
The entrance to the aorta lies over the VSD, allowing the right ventricle to pump deoxygenated blood into the left ventricle
What is pulmonary stenosis?
Narrowing of the pulmonary valve
How is Tetralogy of Fallot diagnosed?
USS or indicated by a heart murmur and cyanosis
What is the treatment for Tetralogy of Fallot?
Surgery
What is an Imperforate Anus?
The anus does not develop so the baby cannot pass stools
How is an Imperforate Anus diagnosed?
During the NIPE and confirmed by an x-ray
What is the treatment for an Imperforate Anus?
Surgery (and possibly a temporary colostomy)
What is Hypospadias?
A condition affecting the penis in 3 ways:
- Urethra not at tip of penis
- Foreskin gathered at back of penis
- Penis bent during an erection
How is Hypospadias diagnosed?
During the NIPE
What is the treatment for Hypospadias?
Surgery
important the baby is not circumcised before this surgery as the foreskin is used and then a circumcision is performed
What does NIPT stand for?
Non-Invasive Prenatal Testing
What are the two types of chromosome abnormalities?
- Numerical abnormalities
2. Structural abnormalities
What is a numerical abnormality?
- Monosomy (missing a chromosome from the pair)
- Trisomy (has more than 2 chromosomes instead of a pair)
What is Turner’s syndrome?
- Second X chromosome missing (affects girls only)
- Features include short stature, wide neck, puffy hands and feet, ovaries non-functioning, weak bones and problems with heart, kidneys, thyroid and hearing
What is the treatment for Turner’s syndrome?
- Fertility treatment
- Growth hormones/ hormone treatment
What is congenital heart disease?
- Covers range of diseases (e.g. VSD, PDA)
What is hip dysplasia?
- Malformation of ball and socket joint of hip
- Common in breech babies
- Refer to specialist physiotherapist
What are cataracts?
- Clouding of lens in eye
- Refer to ophthalmologist
What is cryptorchidism?
- Undescended testes
- Usually resolves itself
- If not, surgery required
What is NIPT?
Harmony (safe) test:
- Only on NHS if combined screening comes back HR
- Testing cell-free foetal DNA
- Tests for Down’s, Edward’s & Patau’s
