ultrasound diagnosis of fatal anomalies

SKELETAL ANOMALIES
Clinical management: Further ultrasound
screening, including fetal echocardiography and
karyotyping.
Procedure after birth: Special treatment is not
required if the anomaly is isolated.
Prognosis: The isolated anomaly does not interfere
with a normal healthy life.
References
Braithwaite JM, Economides DL. First-trimester diagnosis
of Meckel–Gruber syndrome by transabdominal
sonography in a low-risk case. Prenat Diagn 1995;
15: 1168–70.
Bromley B, Shipp TD, Benacerraf B. Isolated polydactyly:
prenatal diagnosis and perinatal outcome. Prenat
Diagn 2000; 20: 905–8.
Bronshtein M, Stahl S, Zimmer EZ. Transvaginal sonographic
diagnosis of fetal finger abnormalities in
early gestation. J Ultrasound Med 1995; 14: 591–5.
Hill LM, Leary J. Transvaginal sonographic diagnosis of
short-rib polydactyly dysplasia at 13 weeks’ gestation.
Prenat Diagn 1998; 18: 1198–201.
Lavanya R, Pratap K. Short rib polydactyly syndrome: a
rare skeletal dysplasia. Int J Gynaecol Obstet 1995;
50: 291–2.
Meizner I, Bar ZJ. Prenatal ultrasonic diagnosis of short
rib polydactyly syndrome (SRPS) type HI: a case report
and a proposed approach to the diagnosis of
SRPS and related conditions. JCU J Clin Ultrasound
1985; 13: 284–7.
Salamanca A, Padilla MC, Sabatel RM, Motos MA,
Stemper K, Gonzalez GF. Prenatal diagnosis of holoprosencephaly
with postaxial polydactyly, cardiopathy
with normal karyotype. Geburtshilfe
Frauenheilkd 1992; 52: 783–5.
Wladimiroff JW, Stewart PA, Reuss A, Sachs ES. Cardiac
and extra-cardiac anomalies as indicators for trisomies
13 and 18: a prenatal ultrasound study. Prenat
Diagn 1989; 9: 515–20.
Zimmer EZ, Bronshtein M. Fetal polydactyly diagnosis
during early pregnancy: clinical applications. Am J
Obstet Gynecol 2000; 183: 755–8.
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Radius Aplasia, Radius Hypoplasia
Definition: Complete or partial absence of the
radius or distal end of it (base of the hand,
thumb). Usually unilateral.
Incidence: One in 12 000–30 000 births.
Clinical history: Mostly sporadic, but autosomaldominant,
autosomal-recessive, and X-linked
inheritance are also observed. It may also be associated
with some syndromes.
Teratogens: Thalidomide, cocaine, valproic acid,
high doses of vitamin A.
Associated malformations: Cardiac anomaly,
thrombocytopenia.
Associated syndromes: Bilateral malformation
is associated more frequently with a syndrome—
e.g., Fanconi anemia, Aase syndrome, thrombocytopenia–absent
radius (TAR) syndrome,
VACTERL association, Goldenhar syndrome,
some forms of trisomy, acrofacial dysostosis,
Baller–Gerold syndrome, Cornelia de Lange syndrome,
Townes–Brock syndrome, Holt–Oram
syndrome.
Ultrasound findings: The radius is bowed or
missing completely. The ulna may also be either
bent, shortened, or absent. The hand is turned,
and the thumb may be missing. In TAR syndrome,
the disorder is bilateral. The lower extremities
may also be involved. The findings are
unilateral in Holt–Oram syndrome, without involvement
of the lower limb. The humerus may
also be absent.
Clinical management: Family history is important—is
the marriage consanguineous? Was the
mother exposed to any teratogens? Further ultrasound
screening, including fetal echocardiography
and karyotyping. Fetal blood sample
(hemoglobin, platelets): if the platelet count is
below 50 000 (Fanconi anemia, TAR syndrome),
platelet infusion and/or delivery by cesarean
section is indicated.
Procedure after birth: Hematological investigation:
is anemia or thrombocytopenia present?
Prognosis: This depends on the underlying disorder.
Good functional results are usually obtained
after orthopedic surgery.
Self-Help Organization
Title: Thrombocytopenia Absent Radius Syndrome
Association
Description: Information, networking and
support for families with children with
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