Y2 Congenital abnormalities Flashcards
Congenital abnormalities affect x in how many babies
24 in 1000.. 240:10.000.. 2,4%
What are the four most common abnormalities?
1 Congenital heart defects
2 limb defects
3 anomalies of the urinary system
4 nervous system defects
What 11 conditions are screened for in a anomaly scan?
Anencephaly Open spina bifida Diaphargmatic hernia Lethal skeletal dysplasia Cleft lip Exomphalos Gastroschisis Serious cardiac anomalies Edwards T18 Pataus T13
What additional conditions are screened for in the NIPE test?
Congenital cataracts
Hip dysplasia
Undescended testes
Alternative sex development
Open spina bifida
Neural tube defect, neural tube has not developed as expected, can be open or closed. Affects 6:10.000. Open can be Myelomeningocele (most serious, 75 % of cases, spinal fluid,cord and nerves exposed) or Meningocele (only membranes and spinal fluid herniate). Commonly lower back/sacrum. Risk factors: Obesity, pre-existing diabetes, antipepeleptic drugs, severe alcohol abuse, 10% of cases are genetic. Outcomes for baby varies with location+ severity of condition. Can be operated in utero/within 48 hrs following birth.
Diaphragmatic hernia, CDH
Diaphragm underdeveloped, does not separate thorax from abdomen, organs can move up and restrict lung development (small, no surfactant). Leads to hypertension and the heart is affected (shunting). Often polyhydramnios. 4:10.000 babies. Cause unknown, males more likely to be affected, 3:2. 10% have comorbidities ex T21 etc. 60% detected on anomaly scan. Big variety in outcomes, 50% of babies survive. Will need intubation at birth and excessive repair/support.
Lethal skeletal dysplasia
Group of 350 anomalies of bone development leading to short limbs and trunk. Lethal is the severe form restricting ribs and development of lungs and heart and mortal outcomes. affects 1:10.000 babies. Risk factors is parents with mild conditions (1:2). No treatment, women given options of how to manage the loss.
Cleft lip and palate
Partial or complete clefting of upper lip with or without clefting of hard palate. 25% palate, 25% lip, 50% both. Affects 10:10.000 births. Risk factor: parents with cleft, maternal smoking, alcohol, obesity, antiepileptic drugs. Sometimes associated with genetic syndromes. Can be operated and usually has positive outcomes.
Exomphalos and gastrochisis
Abdominal wall defect, wall does not close leading to organs developing outside the body. Exomphalos: organs contained within umbilical cord membranes. 1:2 also have heart defects/chromosomal abnormalities. 4:10.000 births. Gastroschisis: organs in direct contact with amniotic fluid (irritation and inflamation). 5:10.000 births.
Occurrence increasing in teenage pregnancies. Often premature. Needs prompt heat management and operation, NG feeding. High success rate 90-95% full recovery.
Congenital heart defects CHD
Affecting: structure, function, rythm. 80:10.000 births, most common anomaly. 25% critical, large variety. 85% unknown cause, risk factors: trisomies, family history, diabetes, bipolar drugs (lithium), antiepeleptic drug, maternal lupus. Detection rate 50%. Mostly requires recurring surgeries/transplant, varying outcomes.
Bilateral renal agenesis
Kidneys do not develop, no amniotic fluid present. This leads to lungs not forming and extremity deformation. Not compatible with extrauterine life. 2:10.000 births. Cause mainly unknown, more often in males, risk factor: parent with one kidney. No treatment, babies often born premature and breech, referral to bereavement midwife.
Congenital cataracts
Opacity of the lens of the eye, causing cloudy/misty vision affecting one or both eyes. 3:10.000 births. Risk factors: family history, trisomy, maternal rubella/cytomegalovirus, neurodevelopmental conditions (hearing loss), prematurity. Requires surgery, often successful. Untreated can lead to blindness.
Developmental dysplasia of the hip
Underdeveloped hip joint on one or both sides, femur coming in and out of the socket. 20:10.000births. Risk factors: family history, breech presentation at or after 36 weeks, more common in girls. Treatment: fabric split (Pavlic harness) securing hip position for several weeks, sometimes surgery is needed. With treatment ususally develop normally. Without treatment can lead to impaired mobility/pain/osteoarthritis in hip and back.
Undescended testes
One or two testes are not found in the scrotum. 6:100 or 600:10.000 male births. Risk factors: family history, SGA, prematurity. Most cases will resolve on their own in 3-6 months. 1:100 will need surgery before 1 year of age. Bilaterally it can be associated with ambiguous genitalia, underlying endocrine disorder. Referral to paediatrics might be needed. If treated, normal fertility can be expected. It can increase risk of testicular cancer, reduced fertility, urogenital problems (testicular torsion).
Difference in sex development
Can be XY who don’t respond to testosterone, XX with increased levels of testosterone, mosaicism of XX and XY. Can also be hypospadias. Cause not always known, could be related to sexual chromosomal anomalies, exposure to adrenal hormones in utero. Treatment is controversial but corrections can be made to ensure bladder function. Wide variety of conditions.
