ultrasound diagnosis of fatal anomalies

THE CENTRAL NERVOUS SYSTEM AND THE EYE
round, with the neural tube defect being the primary
anomaly, as association with other neural
tube defects has been described.
Advice for the mother: This is a very rare
anomaly with no increased risk of recurrence.
Associated malformations: Myelomeningocele
and anencephaly.
Ultrasound findings: very short cervical spine
with absence of vertebrae and overextension of
the fetal head. A common finding is dysraphism of
the cervical spine with an associated meningomyelocele.
Clinical management: Sonographic diagnosis is
usually accurate enough for other diagnostic
tools to be unnecessary. If the pregnancy continues,
development of hydrocephalus is
possible (caution: delivery obstacle). Difficulties
are anticipated during labor and delivery due to
overextension of the fetal head. In case of severe
hydrocephalus, cephalocentesis is an option to
allow a vaginal delivery. Rarely, embryotomy
may be needed to avoid a cesarean section.
Procedure after birth: Intensive medical interventions
should be avoided.
Prognosis: Mostly fatal.
References
Foderaro AE, Abu YM, Benda JA, Williamson RA, Smit
WL. Antenatal ultrasound diagnosis of iniencephaly.
JCU J Clin Ultrasound 1987; 15: 550–4.
Guilleux MH, Serville F, Gaillac D, et al. Prenatal echographic
diagnosis of iniencephaly: apropos of a case.
J Gynecol Obstet Biol Reprod (Paris) 1987; 16: 85–8.
Hammer F, Scherrer C, Baumann H, Briner J, Schinzel F.
Iniencephaly: prenatal and postnatal findings. Geburtshilfe
Frauenheilkd 1990; 50: 491–4.
Jeanne-Pasquier C, Carles D, Alberti EM, Jacob B. [Iniencephaly:
four cases and a review of the literature; in
French; review.] J Gynecol Obstet Biol Reprod (Paris)
2002; 31: 276–82.
Marton T, Tanko A, Mezei G, Papp Z. Diagnosis of an unusual
form of iniencephaly in the first trimester of
pregnancy. Ultrasound Obstet Gynecol 2001; 18:
549–51.
Meizner I, Levi A, Katz M, Maor E. Iniencephaly: a case
report. J Reprod Med 1992; 37: 885–8.
Morocz I, Szeifert GT, Molnar P, Toth Z, Csecsei K, Papp Z.
Prenatal diagnosis and pathoanatomy of iniencephaly.
Clin Genet 1986; 30: 81–6.
Sherer DM, Hearn SB, Harvey W, Metlay LA, Abramowicz
JS. Endovaginal sonographic diagnosis of iniencephaly
apertus and craniorachischisis at 13 weeks’
menstrual age. J Clin Ultrasound 1993; 21: 124–7.
Shoham Z, Caspi B, Chemke J, Dgani R, Lancet M. Iniencephaly:
prenatal ultrasonographic diagnosis case
report. J Perinat Med 1988; 16: 139–43.
1
2
3
4
5
Intracranial Bleeding
Definition: Bleeding occurring within the
parenchyma, in the ventricles, or in the intracranial
space around the brain tissue.
Incidence: Rare.
Clinical history/genetics: Severe preeclampsia,
twin–twin transfusion syndrome or intrauterine
death of a monochorionic twin can lead to intracranial
bleeding. Other causes can be congenital
infections, vessel anomalies, autoantibodies,
platelet antibodies (fetal alloimmune
thrombocytopenia, FAIT) and trauma.
Teratogens: Congenital infections and cocaine.
Associated conditions: Bleeding into the lungs
and liver are evident secondary to a hemorrhagic
episode. Severe anemia resulting from the
bleeding may cause hydrops fetalis.
Ultrasound findings: At first an echogenic area is
seen intracranially, which may later turn cystic.
Echogenic blood clots may be seen within the
ventricles. Subdural hematomas appear between
the skull and the brain tissue. The lateral or third
ventricles may be widened, depending on the location
of the bleeding. Intracranial bleeding is
first recognized, if at all, in the third trimester.
Often it is the resulting hydrocephalus and
possibly the differing widths of the lateral ventricles
that are detected sonographically.
Clinical management: Umbilical venous sampling
to determine fetal hemoglobin and platelet
count (caution: risk of bleeding in thrombocytopenia).
Search for infections (TORCH). The
delivery should proceed in a perinatal unit. If alloimmune
thrombocytopenia is the cause, then
platelet transfusion is given and cesarean section
is preferred. The time of delivery is influenced
by the development of the hydrocephalus.
46