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Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation

Eduardo Félix Martins Santana
Eduardo Félix Martins Santana
, 
Edward Araujo Júnior
Edward Araujo Júnior
, 
Gabriele Tonni
Gabriele Tonni
, 
Fabricio Da Silva Costa
Fabricio Da Silva Costa
 y 
Simon Meagher
Simon Meagher
   | 25 sept 2018
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Article Category: pictorial-review
Publicado en línea: 25 sept 2018
Páginas: 240 - 246
Recibido: 23 mar 2018
Aceptado: 06 sept 2018
DOI: https://doi.org/10.15557/jou.2018.0035
Palabras clave
© 2018 Eduardo Félix Martins Santana et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Fig. 1.

Acrania detected by 3D ultrasound at 8 weeks and 6 days of gestation using multiplanar mode (A) and HDlive™ rendering mode: note the increased echogenicity of the amniotic fluid (B)
Acrania detected by 3D ultrasound at 8 weeks and 6 days of gestation using multiplanar mode (A) and HDlive™ rendering mode: note the increased echogenicity of the amniotic fluid (B)

Fig. 2.

2D transabdominal ultrasound performed at 11 weeks and 3 days. A “Mickey-Mouse” bi-lobular face” appearance is clearly evident
2D transabdominal ultrasound performed at 11 weeks and 3 days. A “Mickey-Mouse” bi-lobular face” appearance is clearly evident

Fig. 3.

2D transvaginal ultrasound showing “cystic” acrania at 10 weeks and 5 days of gestation
2D transvaginal ultrasound showing “cystic” acrania at 10 weeks and 5 days of gestation

Fig. 4.

A variant of cystic acrania (A) phenotype with associated exomphalos (B) detected at 10 weeks and 2 days of gestation
A variant of cystic acrania (A) phenotype with associated exomphalos (B) detected at 10 weeks and 2 days of gestation

Fig. 5.

Fore shortened phenotype of acrania diagnosed at 11 weeks and 1 day of gestation by 3D ultrasound with HDlive™ rendering mode
Fore shortened phenotype of acrania diagnosed at 11 weeks and 1 day of gestation by 3D ultrasound with HDlive™ rendering mode

Fig. 6.

Elongated phenotype of acrania by 2D ultrasound at 11 weeks and 1 day of gestation
Elongated phenotype of acrania by 2D ultrasound at 11 weeks and 1 day of gestation

Fig. 7.

3D ultrasound in multiplanar mode in sagittal (A, detail) and sagittal and coronal planes (B): the “overhanging” phenotype is well depicted
3D ultrasound in multiplanar mode in sagittal (A, detail) and sagittal and coronal planes (B): the “overhanging” phenotype is well depicted

Fig. 8.

Discordant amniotic fluid echotexture in the setting of monochorionic diamniotic twin pregnancy may be the first sign of acrania-exencephaly-anencephaly sequence
Discordant amniotic fluid echotexture in the setting of monochorionic diamniotic twin pregnancy may be the first sign of acrania-exencephaly-anencephaly sequence

Fig. 9.

3D ultrasound volume contrast imaging (VCI) enhancement in sagittal (A) and coronal (B) plane in monochorionic-monoamniotic (MCMA) twin pregnancy: note the increased echogenicity of the amniotic fluid
3D ultrasound volume contrast imaging (VCI) enhancement in sagittal (A) and coronal (B) plane in monochorionic-monoamniotic (MCMA) twin pregnancy: note the increased echogenicity of the amniotic fluid

Fig. 10.

2D transvaginal ultrasound: TRAP (twin reversed arterial perfusion) sequence in a co-twin is documented in a monochorionic/ monoamniotic (MCMA) twin pregnancy (A). 3D ultrasound in HDlive™ rendering mode (B)
2D transvaginal ultrasound: TRAP (twin reversed arterial perfusion) sequence in a co-twin is documented in a monochorionic/ monoamniotic (MCMA) twin pregnancy (A). 3D ultrasound in HDlive™ rendering mode (B)

Fig. 11.

Dichorionic diamniotic (DCDA) twin pregnancies showing one fetus with acrania-exencephaly-anencephaly sequence (A, B)
Dichorionic diamniotic (DCDA) twin pregnancies showing one fetus with acrania-exencephaly-anencephaly sequence (A, B)

Fig. 12.

Exencephaly can be visualized by using 3D ultrasound in the rendering mode, especially at an early stage of embryonic development (A, 8 weeks and 2 days of gestation) or to demonstrate associated facial dysmorphism, such as low set ears at a later stage (B, 13 weeks of gestation)
Exencephaly can be visualized by using 3D ultrasound in the rendering mode, especially at an early stage of embryonic development (A, 8 weeks and 2 days of gestation) or to demonstrate associated facial dysmorphism, such as low set ears at a later stage (B, 13 weeks of gestation)

Fig. 13.

Exencephaly: note the developing brain located completely outside the fetal skull
Exencephaly: note the developing brain located completely outside the fetal skull

Fig. 14.

Encephalocele (arrow) is another type of neural tube defect (NTD) that may be differentiated from acrania-exencephaly-anencephaly sequence
Encephalocele (arrow) is another type of neural tube defect (NTD) that may be differentiated from acrania-exencephaly-anencephaly sequence

Fig. 15.

Case of acrania in craniopaghus parasiticus conjoined twins: 2D ultrasound (A) and 3D ultrasound (B) with HDlive™ rendering mode are reported at 9 weeks and 3 days of gestation
Case of acrania in craniopaghus parasiticus conjoined twins: 2D ultrasound (A) and 3D ultrasound (B) with HDlive™ rendering mode are reported at 9 weeks and 3 days of gestation
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