Neonatal Screening for DDH PDF

Neonate screening Developmental Dysplasia of the Hip (DDH).  Neonate screening - The goal of newborn screening is to detect disorders that are threatening to life or long-term health before they become symptomatic. - These conditions include: inborn errors of metabolism, endocrine di...

Neonate screening Developmental Dysplasia of the Hip (DDH).  Neonate screening - The goal of newborn screening is to detect disorders that are threatening to life or long-term health before they become symptomatic. - These conditions include: inborn errors of metabolism, endocrine disorders, hemoglobinopathies, immunodeficiency, cystic fibrosis, hearing loss, and critical congenital heart disease. - Early treatment of these conditions may reduce morbidity and mortality in affected patients.  Neonate screening Congenital hearing loss Critical congenital heart disease using pulse oximetry The newborn blood spot panel :  Inborn errors of metabolism;  Inborn errors of immunity;  Congenital hypothyroidism;  Congenital adrenal hyperplasia;  Hemoglobinopathies;  Cystic fibrosis;  Spinal muscular atrophy.  Two-stage newborn hearing screening for infants admitted to the well-baby nursery (neonatal level 1 care) The OAE (Otoacoustic Emissions) test checks part of the inner ear’s response to sound. The test is mostly done on infants and children who may not be able to respond to behavioral hearing tests because of their age.  Newborn screening for critical congenital heart defects (critical CHDs)  Newborn screening for critical congenital heart defects (CHDs) utilizes a simple bedside test called pulse oximetry to estimate oxygen levels in a baby’s blood.  Low oxygen levels detected by pulse oximetry can indicate a critical CHD, prompting further evaluation and management.  The test is conducted using a painless pulse oximeter machine with sensors placed on the baby's skin, taking only a few minutes to complete.  Early detection through pulse oximetry allows for timely intervention and improved outcomes for infants with critical CHDs. Modified algorithm for critical congenital heart disease screening with pulse oximetry  Neonate screening The four most commonly diagnosed conditions are: Hearing loss (17 per 10,000 live births) Primary congenital hypothyroidism (6 per 10,000 live births Sickle cell disease (5 per 10,000 live births) Cystic fibrosis (2 per 10,000 live births) Early identification through newborn screening allows for earlier intervention, which reduces long-term morbidity and mortality  Developmental dysplasia of the hip (DDH) Developmental dysplasia of the hip (DDH) describes a spectrum of conditions related to the development of the hip in infants and young children. It encompasses abnormal development of the acetabulum and proximal femur and mechanical instability of the hip joint  Developmental dysplasia of the hip (DDH) etiology:  primarily characterized by increased joint laxity leading to an unstable femoroacetabular articulation  A positive family history for DDH is observed in 12-33% of affected patients, and it is more prevalent in female infants (80%).  DDH incidence is higher (16-25%) in babies born in breech presentation compared to the general population (2-3%), and conditions leading to a tighter intrauterine space, such as oligohydramnios, large birth weight, and first pregnancy  Crowding within the uterus, evidenced by the high rate of DDH association with other intrauterine molding abnormalities like torticollis supports its role in the pathogenesis, with the left hip being the most commonly affected due to positioning against the mother's sacrum. DDH DDH is classified into two major groups typical and teratologic :  Typical DDH occurs in otherwise normal patients or those without defined syndromes or genetic conditions.  Teratologic hip dislocations usually have identifiable causes such as arthrogyposis or a genetic syndrome and occur before birth  DDH in neonates: DDH in the neonate is asymptomatic and must be screened for by specific maneuvers. Physical examination must be carried out with the infant unclothed and placed supine in a warm, comfortable setting on a flat examination table. Early clinical manifestations of developmental dysplasia of the hip (DDH) are identified during examination of the newborn. The Barlow maneuver The Ortolani test. 1. https://www.youtube.com/watch?v=Qy3uSkDhMZs 2. https://www.youtube.com/watch?v=Qn-bWuvm0Pk Developmental dysplasia of the hip (DDH) Age-specific findings of DDH — The examination findings vary according to age: In infants younger than three months, it is most important to evaluate the stability of the hips using the Ortolani maneuver and The Barlow maneuver. After three months of age, limited abduction, apparent thigh-length discrepancy (in unilateral cases), and the Galeazzi (for unilateral cases) and Klisic tests are better indicators of DDH than instability. In walking-aged children with unilateral DDH, weakness of the hip abductors on the affected side may be indicated by a positive Trendelenburg pelvic tilt test (inability to maintain the pelvis horizontally while standing on the ipsilateral leg) and the presence of a Trendelenburg lurch while walking DDH in infants aged 3-6 months Galeazzi sign is classic identifier of unilateral hip dislocation. Patient lies supine, with hips and knees flexed. Examination should demonstrate that one leg appears shorter than other. Although this appearance is usually due to hip dislocation, it is important to realize that any limb-length discrepancy results in positive Galeazzi sign. Asymmetry in the position or number of the inguinal, thigh, or gluteal skin folds may be a clue to the diagnosis of unilateral DDH. In the case of DDH, the increased folds are caused by "bunching" of the skin and muscle around a functionally shortened femur. Asymmetric skin folds are sensitive but not specific for DDH.  Klisic Test Examiner places the index finger on the Anterior Superior Iliac Spine and the middle finger on the Greater Trochanter Normally, the line between these 2 points passes through the umbilicus or above it. Positive test In children with DDH the line passes below the umbilicus.  The walking child  The walking child often presents to the physician after the family has noticed a limp, a waddling gait, or a leg-length discrepancy.  Affected side appears shorter than the normal extremity, and the child toe-walks on the affected side.  The Trendelenburg sign is positive in these children, and an abductor lurch is usually observed when the child walks.  As in the younger child, there is limited hip abduction on the affected side and the knees are at different levels when the hips are flexed (the Galeazzi sign).  Excessive lordosis, which develops secondary to altered hip mechanics, is common and is often the presenting complaint  Trendelenburg test Normally, the pelvis stays level when a patient stands on one leg. When standing on the affected leg, the pelvis tilts downward toward the unaffected side (as pictured in the abnormal patient above) because of gluteal muscle weakness on the affected side (right side in abnormal patient above).  Clinical features of bilateral developmental dysplasia of the hips wide perineum (because of lateral displacement of the femoral heads and neck) hyperlordosis (because of superior and posterior displacement of the femoral heads and neck).  Diagnostic testing  Ultrasonography  Radiography Diagnostic testing - ultrasonography  Is the diagnostic modality of choice for DDH before the appearance of the femoral head ossific nucleus (4-6 mo).  During the early newborn period (0-4 wk) physical examination is preferred over ultrasonography because there is a high incidence of false-positive sonograms in this age group. Ultrasonography: As a consequence the Graf classification of hip dysplasia is mainly based on the morphology of the iliac bone, where we look at the shape of the acetabulum, the bony and cartilaginous acetabular rim, labrum and position of the femoral head.  Because the infant is lying on its side the anatomy is displayed in a horizontal fashion instead of vertical (figure) And this is the way the ultrasound image is displayed on the screen of the ultrasound machine Measurements First three points of interest need to be indentified in the image: 1.Centre of labrum 2.Lower limb of the iliac bone 3.Bony rim of acetabulum. When the bony rim is angular this point is easily recognized. α angle values > 60 degrees are considered normal, and those < 60 degrees imply acetabular dysplasia A normal β angle is < 55 degrees; as the femoral head subluxates, the β angle increases  Diagnostic testing - Radiography Radiographs are recommended for an infant once the proximal femoral epiphysis ossifies, usually by 4-6 mo. In infants of this age, the radiographs have proved to be more effective, less costly, and less operator dependent than an ultrasound examination. An anteroposterior (AP) view of the pelvis can be interpreted through several classic lines drawn on it. Developmental dysplasia of the hip (DDH)- treatment  AGE 0 TO 4 WEEKS - mild instability/laxity in infants younger than four weeks usually improves spontaneously, it is important to avoid over- diagnosis and overtreatment of DDH in this age group  AGE 4 WEEKS TO 6 MONTHS - Re-examination and ultrasonography at six weeks of age. Persist problem beyond six weeks of age - treatment with a Pavlik harness  The Pavlik harness is the most thoroughly studied and most commonly used abduction splint.  Age ≥6 months – Reduction under anesthesia (closed or open) is usually necessary for children who are older than six months of age at the time of diagnosis or initiation of therapy Pavlik harness Open reduction Developmental dysplasia of the hip (DDH)- outcome  Outcome – The long-term outcome of treated DDH depends upon the age at diagnosis, the severity of dysplasia, and the success of treatment. Treatment with Pavlik harness achieves and maintains hip reduction in approximately 95 percent of infants with DDH who are treated during the first six months of life  Long-term follow-up – Children who have been treated for DDH should be monitored with regular hip radiographs until they are skeletally mature to evaluate hip development and complications or sequelae. The frequency of long-term follow-up varies depending upon the treating orthopedic surgeon.