Can you give me a hand? Diagnosing and understanding the clinical significance of fetal hand anomalies in obstetric ultrasound

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1 Can you give me a hand? Diagnosing and understanding the clinical significance of fetal hand anomalies in obstetric ultrasound Thomas Gibson MD, Kathryn Snyder MD, Ryan Meek MD, Roya Sohaey MD, Karen Oh MD Department of Diagnostic Radiology

2 Background and Introduction Fetal hand anomalies encompass a large spectrum of malformations which are commonly missed during routine fetal ultrasonography. Hand anomalies can help guide the diagnosis and management of many associated conditions. If a fetal hand anomaly is detected, consider referral to a clinic that specializes in the identification and management of fetal malformations and genetic syndromes. A detailed fetal ultrasound (US) with careful cardiac evaluation to determine the presence or absence of associated abnormalities. Repeated focused US examinations are sometimes necessary to diagnose more precisely the underlying anomalies as pregnancy progresses. Various systems exist for the classification of upper limb malformations on the basis of anatomy, embryology, genetics, and teratology.

3 Materials and Methods Retrospective review of fetal hand anomaly cases at OHSU from fetal hand anomalies are presented and associations discussed, with post delivery follow-up. Case Hand Anomaly Associated Syndrome or Condition 1 Polydactyly Isolated, Familial, Trisomy 13 and 18, Meckel-Gruber, diabetic embryopathy 2 Clinodactyly Trisomy 21 3 Clenched hand Trisomy 18, fetal akinesia deformation sequence 4 Syndactyly Familial, amniotic band syndrome, triploidy, Apert syndrome, Poland syndrome 5 Arthrogryposis Trisomy 18, distal arthrogryposis, amyoplasia, multiple pterygium syndrome 6 Radial ray VACTERL, Trisomy 18, Holt-Oram, TAR (thrombocytopeniaabsent radius), Fanconi anemia 7 Ectrodactyly EEC (ectrodactyly-ectodermal dysplasia) 8 Amniotic Band Syndrome Most commonly sporadic, rarely associated with drugs, trauma, Ehlers-Danlos syndrome, Epidermolysis bullosa

4 Polydactyly Postaxial: Ulnar or fibular side. Preaxial: Radial or tibial side (less common). General features: Spectrum of appearances based on formation of digit o o o Complete Bifid Broad digit Soft tissue nubbin (digiti postminimi) Triphalangeal thumb Ultrasound Findings: Confirm in both axial and coronal views +/- 3D Extra digit may be hypoplastic or angulated in position If soft tissue without bone, often missed prenatally Associations: Familial (isolated), Trisomy 13 and 18, Meckel-Gruber syndrome, Diabetic Embryopathy T 3D US shows postaxial polydactyly with a 6 th digit on the ulnar side of the hand (arrow). A midline cleft lip is noted (curved arrow) in this fetus with trisomy 13. T=thumb Prenatal 3D US and postnatal radiograph demonstrate preaxial polydactyly adjacent to the thumb (arrow). Postnatal radiograph shows a postaxial digiti postminimi, not detected in utero (arrow).

5 Clinodactyly Radial deviation of the distal 5 th digit. Short middle phalanx Imaging: Seen best on coronal open hand view in 2 nd trimester. Ultrasound Findings: Tip of 5 th finger curves toward 4 th finger Associations: Familial clinodactyly Autosomal dominant Minor marker for trisomy 21 60% of T21 have clinodactyly Gray scale ultrasound, 3D ultrasound, and photographic imagesof the right hand demonstrate radial deviation of the distal 5 th digit.

6 Clenched hand Fetal hands are held in a clenched position as if unable to extend. Pathology: Muscle variations along the radial margin of the forearm and hand. Absence of thenar muscles with anomalous tendons and attachments among the forearm muscle groups Ultrasound Findings: Hands are in persistent clenched position. May have overlapping fetal fingers (particularly index finger overlapping the middle finger). Associations: Present in 50% of Trisomy 18 cases Can be seen in fetal akinesia deformation sequence (arthrogryposis) 3D ultrasound image shows clenched hands with overlapping index fingers, in this fetus with trisomy 18.

Syndactyly Partial or incomplete syndactyly: Affects only proximal segment of digit. Complete syndactyly: Affects entire length of digit to nail.

3D imaging often helpful to further evaluate digits. Ultrasound Findings: Inability to see separated digits on open hand view of fetus.

7 Syndactyly Partial or incomplete syndactyly: Affects only proximal segment of digit. Complete syndactyly: Affects entire length of digit to nail. Pathology: Failure of separation of digital rays. Occurs in the first trimester Imaging: Seen best on coronal open hand view in 2 nd trimester. 3D imaging often helpful to further evaluate digits. Ultrasound Findings: Inability to see separated digits on open hand view of fetus. Often missed on prenatal US due to variable fetal hand position Prenatal gray-scale US and postnatal AP radiograph show complete syndactyly of the 3 rd -5 th digits (arrows). Associations: Non-syndromal (Familial), Amniotic Band Syndrome, Apert Syndrome, Trisomy, Poland Syndrome

8 Arthrogryposis Abnormality related to lack of fetal movement. Ultrasound findings: Lack of fetal motion Polyhydramnios: Decreased fetal swallowing. Abnormal posturing: Cross-legged lower limbs Extended elbows with internally rotated, flexed wrists ( waiters tip ). Clubfeet Clenched hands. Associations: Trisomy 18 Distal Arthrogryposis Amyoplasia Multiple pterygium syndrome 3D ultrasound shows a fetus with flexed wrists (arrow) and hyperextended fingers (curved arrow). Clinical photograph of the newborn shows flexed wrist and thin curved fingers. 3D ultrasound shows a fetus with extended elbows (arrow) and rotated flexed wrists (curved arrow).

Radial Ray Syndrome Spectrum of anomalies including absence or hypoplasia of radius, radial carpal bones, or thumb. Imaging: Detectable on routine anatomic survey or earlier.

9 Radial Ray Syndrome Spectrum of anomalies including absence or hypoplasia of radius, radial carpal bones, or thumb. Imaging: Detectable on routine anatomic survey or earlier. Ultrasound Findings: Radius is absent or hypoplastic Radial deviation of the hand Thumb may be absent or hypoplastic Proximal implantation of the thumb with associated triphalangeal appearance. Associations VACTERL, Trisomy 13 and 18, Holt Oram Syndrome 3D and gray-scale images show short left radius (open arrow), thumb and second digit. Three digits are present with abnormal angulation at the wrist (arrow).

Ectrodacyly Characterized by hypoplasia of phalanges, metacarpals, metatarsals, and deep median cleft with fusion of remaining digits. Type of split hand/foot malformation.

10 Ectrodacyly Characterized by hypoplasia of phalanges, metacarpals, metatarsals, and deep median cleft with fusion of remaining digits. Type of split hand/foot malformation. Ultrasound findings: Cleft appearance of hands and/or feet with missing digits. Variable clefting from just soft tissue to deep cleft and medial ray deficiency. Syndactyly of digits on either side of cleft often seen (soft tissue and/or osseous fusion). Associations: Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome (ECC) 3D fetal ultrasound and AP radiograph show a cleft of the hand secondary to a missing middle metacarpal and phalange(arrow). Clinical photograph of the left hand shows central ray deficiency and deep cleft (arrow).

11 Amniotic Band Syndrome Entrapment of fetal parts by disrupted amnion. Formation of fibrous amniotic bands which can result in multiple anomalies (clefts, constrictions, amputations, malformation, deformation Imaging: Asymmetric distribution of defects is hallmark Edema of distal extremity secondaryto constriction. Ultrasound Findings: Head/face clefts or defects Truncal entrapment Extremity entrapment Associations: Sporatic occurance most common Ehlers-Danlos syndrome Epidermolysis bullosa 3D fetal ultrasound and postnatal clinical photo show amputation of the 2 nd -4 th digits (arrow) with intact thumb (T).

12 Conclusion Identifying and characterizing fetal hand anomalies can be challenging, but is important to attempt at the time of the routine anatomy scan. When found prenatally, careful evaluation for associated anatomic abnormalities or dysmorphic conditions should be performed. A significant portion of fetuses with hand anomalies will have additional findings.

13 References 1. Reiss RE, Foy PM, Mendiratta V, Kelly M, Gabbe SG. Ease and accuracy of evaluation of fetal hands during obstetrical ultrasonography: a prospective study. J Ultrasound Med. 1995; 14: Piper SL, Dicke JM, Wall LB, Shen TS, Goldfarb, CA. Prenatal detection of upper limbdifferences with obstetric ultrasound. J Hand Surg Am. 2015;40: Dy CJ, Swarup I, Daluiski A. Embryology, diagnosis, and evaluation of congenital hand anomalies. Current Reviews in Musculoskeletal Medicine. 2014;7(1): Kozin S. Upper Congenital Anomalies. Journal of Bone and JointSurgery. 2003;85: Pajkrt E, Cicero S, Griffin DR, van Maarle MC, Chitty LS. Fetal forearm anomalies:prenatal diagnosis, associations, and management strategy. Prenatal Diagnosis. 2012;32: Stoll C, Alembik Y, Dott B, Roth M. Associated malformations in patient with limb reduction deficiencies. Eur J of Med Genetics. 2010;53: Diagnostic Imaging: Obstetrics. 2 nd Edition. Woodward PJ, Kennedy A, Sohaey R, Byrne J, Oh KY, Puchalski MD, Winters TC, Mclean LA. 2nd ed. Salt Lake City, UT: Amirsys; Rypens F, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A. Obstetric US: watch thefetal hands. Radiographics May-Jun;26(3):811-29; discussion Bromley B, Benacerraf B. Abnormalities of the hands and feet in the fetus: sonographic findings. AJR.1995;165:

3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D.

3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D. in Obstetrics: Current Modalities & Future Potential Outline What is 3D US? What are obvious advantages of 3D US? What is the future of 3D US? Alfred Abuhamad, M.D. Eastern Virginia Medical School 2D US