VIVA Aide Memoir Definitions and Impact Flashcards
Congenital Cataract
Definition and Impact
The primary purpose of the NIPE is to identify congenital cataracts.
Opacity within the lens of the eye, which is located behind the pupil. It can occur in one or both eyes and range in severity.
Impact: This can lead to blindness. A severe cataract blocks light and images from reaching the retina, preventing visual pathway development at a critical stage. Although rare, it is the most treatable but requires early detection, rapid referral, and management to prevent lifelong visual impairment.
Jaundice
Definition and Impact
Yellow discoloration of the skin and sclera that is caused by an excess of bilirubin in the blood (visible when the SBR exceeds 85 micromils/L). Classified as physiological, pathological, or prolonged jaundice depending on the timing of appearance, the duration, impact on the baby, and results of investigations.
Impact:
Physiological jaundice is very common and usually harmless; it normally appears in healthy babies after 24h of age and disappears by 2 weeks of age.
Pathological jaundice normally appears in the first 24h and it is likely to be because of a pathological cause. It needs treatment, and if unrecognized or untreated is associated with morbidity and mortality.
Prolonged jaundice must be investigated as the cause may be infection, liver disease (Hepatitis) or biliary atresia (malformation or congenital obstruction of the biliary system), Gilbert’s syndrome (a genetic disorder that affects the body’s ability to process bilirubin), and Crigler-Nijar syndrome (inability to convert/clear bilirubin from the body. Rare but caused by liver enzyme anomalies).
Cryptorchidism
Definition and Impact
The purpose of screening is to detect unilateral, bilateral, or incorrectly descended testes in the scrotum sac.
Impact: An increased risk of testicular cancer and infertility, other urogenital problems such as hypospadias and testicular torsion, ambiguous genitalia, or underlying endocrine disorders.
Congenital adrenal hyperplasia must be excluded in a baby with bilateral impalpable gonads.
Hypospadias/Epispadias
Definition and Impact
Birth defect in which the urethral opening is abnormally located on the ventral surface of the penis.
Epispadias when it’s abnormally located on the dorsal surface of the penis.
May require surgery and the use of a glans penis.
In utero, the urethra forms during weeks 8–14 of pregnancy, and there are different degrees of severity associated with hypospadias:
* Subcoronal: near the head of the penis.
* Midshaft: along the shaft of the penis.
* Penoscrotal: where the penis and scrotum meet.
Impact: Impact sexual function.
Can be for boys or girls, although less common.
12% of cases of hypospadias are associated with other congenital anomalies, such as inguinal hernia, chordee, cryptorchidism, and other abnormalities of the renal tract.
Acrocyanosis
Definition and Impact
A bluish discoloration of the palms of the hands and soles of the feet; it is typically symmetrical.
Impact: It may persist up to 12-24h from birth and it should disappear within 48h from birth. It is exacerbated by environmental low temperature; it is caused by benign vasomotor changes that result in peripheral vasoconstriction. It is a benign condition in an otherwise well baby. If persistent requires further investigation.
Milia/Epstein’s Pearls
Definition and Impact
Small pearly white or yellow follicular cysts commonly known as milk spots about 1 mm in size and in clusters. If found on the forehead, brows, cheeks, nose, and nasolabial folds are called Milia, whereas if they are found in the gums, at the tip of the penis, or at the junction of the hard and soft palate are called Epstein’s pearls. They are caused by the accumulation and retention of keratin and sebaceous gland secretion.
Impact: It is a benign condition and resolves spontaneously within the first 8w of life.
Hyperpigmented macule
Definition and Impact
Congenital blue/green/grey birthmarks, flat with wavy borders and irregular shape, covering the buttocks, back, and sometimes shoulders of the newborn. Clusters of melanocytes infiltrate the dermis. They normally disappear 3-5 years after birth, and almost always by puberty.
Impact: Benign birthmark, although if they are more than one spot, bigger than 10cm, or in unusual areas they should be referred for further examination (hurler’s disease, Hunter’s syndrome, and Niemann-Pick disease)
Erythema toxicum neonatorum
Definition and Impact
A central small yellow/white papule, surrounded by a halo of erythematous base. The rash can be found anywhere on the neonate’s body and it is often exacerbated by handling, heat, and irritation caused by clothing.
The rash occurs as an initial immune response to protect the baby from infection by allowing colonization of the skin by eosinophils (infection-fighting WBCs)
Impact: Benign neonatal rash lasts from a few hours to several days, with a peak at 24-48h. If the spots do not disappear within 48h or have whiteheads, consider infection.
Hydrocele
Definition and Impact
collection of fluid within the scrotal sac.
Impact: It is related to the inguinal hernia, the difference being that the opening of the process vaginalis into the abdominal cavity is not large enough to allow anything else but fluid through.
CHD Congenital Heart Disease
Definition and Impact
A heart condition present at birth that results in an abnormality of the structure or function of the heart.
Divided into 2 categories: “critical” and “major serious” CHD
CCHD- includes all potentially life-threatening and duct-dependent conditions and those conditions which require procedures within the first 28 days.
Major serious CHD- includes those defects not classified as critical but requiring invasive intervention during the first year of life.
Impact: The number of deaths in England from CHD in children under 1 y/o decreased by nearly half between 1986 and 2011 (PHE, 2018)
CHD has the potential to seriously affect the health and well-being of the newborn baby either at the time of detection or at some point in the future. Therefore, early diagnosis and treatment are vital.
DDH Developmental Dysplasia of the Hips
Definition and Impact
A developmental condition of the hip joint, where the acetabulum is shallow and provides insufficient coverage of the femoral head. It can occur at any time between intrauterine life and early childhood;
It has three degrees:
Normal hip
Dislocatable hip if the joint is less stable, and the ball may slide in and out of the socket.
Dislocated hip if the ball loses contact with the socket and stays outside the joint. One or both hips may be affected (although more commonly the left hip). (Stanford Medicine 2020; steps 2020)
Impact:
It is a dynamic disorder that may resolve or deteriorate with growth (ranging from dysplasia to irreducible dislocation diseases). Early identification of dislocated or dislocatable hips through selective USS as used in the UK (difference from universal USS used by other countries)
Undetected unstable hip with delayed treatment may result in the need for complex surgery and/or long-term complications, such as impaired mobility and pain, and osteoarthritis of the hip and the back.
Talipes Equinovarus
Definition and Impact
Also known as clubfoot, is when a baby is born with one or both feet visibly turned inwards and under. Talipes can be positional or fixed:
Positional occurs when an otherwise normal foot is held in an incorrect position in the uterus. The foot is flexible and can be easily manipulated by hand into a neutral position.
Fixed cannot be straightened manually.
The cause is:
- Congenital (most common) when children usually have no other conditions. May be referred to as an isolated or idiopathic cause
- Neurogenic caused by an underlying neurological condition, for example, spina bifida.
- Syndromic (a small minority of cases), is associated with chromosomal and genetic abnormalities or syndromes such as diastrophic dwarfism which affects cartilage and bone development.
Impact: If a newborn has talipes or metatarsus adductus it is important to refer for a hip USS as they will have a higher risk for DDH (15-20%)
Talipes is never cured. The position and function of the feet are maximized by the treatment. Relapse is estimated to occur in 1-2 out of every 10 cases.
