Published on in In Utero Insights
Congenital deformities of the upper limbs are complex conditions that include transverse deficiencies, longitudinal deficiencies of the forearm, and deficiencies of the hands and fingers. They are typically diagnosed during a 20-week anatomic ultrasound.
Families referred to our Center for Fetal Diagnosis & Treatment with a prenatally diagnosed upper limb deformity undergo a full evaluation that includes imaging to confirm the diagnosis and consultation with our maternal-fetal medicine specialists and experts from our Hand and Arm Disorders Program.
One of the largest multidisciplinary programs of its kind, our Hand and Arm Disorders Program brings together surgeons and clinical staff from two core divisions — Orthopaedics and Plastic Surgery — who create a custom treatment plan for each child. By joining forces early, this team can work to enhance both the functionality and appearance of a child’s affected hand or arm.
Our team reviews and evaluates the ultrasound to confirm the diagnosis and counsels families on what to expect when their child is born, the impact the condition may have on function and quality of life, and the role of prosthetics, orthotics, occupational therapy and surgery. The sensitivity and specificity for upper extremity conditions visualized on ultrasound doesn’t always correlate to the exact diagnosis after birth, and our team is sure to convey any ambiguity when counseling families.
Some of the rare, complex conditions our team prenatally counsels on include:
- Syndactyly, in which two or more digits are fused together
- Polydactyly, in which there is an extra digit
- Radial longitudinal deficiency (RLD), in which the radial side of the forearm doesn’t form properly. This may result in the underdevelopment of the thumb, wrist and forearm.
The timetable for follow-up varies from patient to patient. For children born in our Hospital’s Garbose Family Special Delivery Unit, the first delivery unit within a children’s hospital designed specifically for the healthy mother whose fetus has a birth defect, we meet with families in the Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit within the first couple of days after birth to examine the baby and answer any questions.
Follow-up involves evaluation by our multidisciplinary team of surgeons, radiologists, advanced practice nurses, physical therapists and occupational therapists to confirm the child’s hand or arm disorder, evaluate bimanual activity, and establish a customized, comprehensive treatment plan, including surgery if needed.
Each year, our board-certified orthopaedic and plastic surgeons perform more than 1,000 procedures on infants, children and teens with hand or arm conditions, including:
- Reconstructive surgery such as pollicization
- Syndactyly release
- Tendon surgery
- Nerve grafting
In rare cases that manifest in both the limb and other organs, such as VACTERL and Holt-Oram, our team works in conjunction with other specialists within the Hospital to provide comprehensive care.