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Case Reports
. 2020 Oct-Dec;61(4):1309-1316.
doi: 10.47162/RJME.61.4.32.

Prenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus

Cristina Crenguţa Albu  1 , Dinu Florin Albu, Anca Pătraşcu, Ştefan Dimitrie Albu, Ion Cristian Efrem, Alexandru Marian Gogănău
Affiliations
Case Reports

Prenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus

Cristina Crenguţa Albu et al. Rom J Morphol Embryol. 2020 Oct-Dec.

Abstract

Holoprosencephaly (HPE) is a dramatic human brain malformation sequence with an extreme variable phenotypic spectrum and genetic heterogeneity, variable degree of severity and unknown etiology, in many cases. HPE is classified into syndromic, chromosomal, and non-syndromic, non-chromosomal. The most cases of HPE are syndromic. We present an atypical case of syndromic alobar HPE associated with digynic triploidy fetus, prenatally diagnosed, early at 18 weeks of gestation, by ultrasound (US) and complex genetic investigations. The US examination was performed with a specialized US machine, General Electric Voluson E10 OLED BT18, using two-dimensional (2D) scanning, three-dimensional (3D) image reconstruction, four-dimensional (4D) spatiotemporal image methodology and the highest power Doppler US technology. A detailed US examination of the fetus revealed several major abnormalities of the fetal head and severe facial malformations. Based on the antenatal US findings, the fetus was diagnosed with alobar HPE. After a careful examination and genetic counseling, additional cytogenetic investigations and molecular genetic analyses were performed, which revealed an abnormal number of 69 chromosomes, digynic triploidy (69,XXY). Two days later, the parents choose to interrupt the current gestation because of major fetal malformations. The pathological examination of the embryo reaffirmed the antenatal diagnostics.

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Conflict of interest statement

The authors declare that they have no conflict of interests.

Figures

Figure 1
Figure 1
Ultrasound image of the fetal head showing hydrocephalus, fused thalami, the choroid plexus that appear to float freely in the ventricular cavity and thin brain mantle (about 1 mm)
Figure 2
Figure 2
Ultrasound image of the fetal head showing large ventricle, the absence of the corpus callosum, choroid plexus that appear to float freely in the ventricular cavity (posterior) and thin brain mantle (about 2 mm), prominent forehead, depressed nasal bridge and orbital abnormalities
Figure 3
Figure 3
Head biparietal diameter (BPD). d: Days; SD: Standard deviation; w: Weeks
Figure 4
Figure 4
Occipitofrontal diameter (OFD). d: Days; w: Weeks
Figure 5
Figure 5
Head circumference (HC). d: Days; SD: Standard deviation; w: Weeks
Figure 6
Figure 6
Binocular distance (BOD). d: Days; w: Weeks
Figure 7
Figure 7
Ultrasound fetal biometry interpretation. 2D: Two-dimensional; AC: Abdominal circumference; APAD: Anterior-posterior abdominal diameter; APTD: Anterior-posterior fetal thigh diameter; avg.: Average; BOD: Binocular distance; BPD: Biparietal diameter; Cereb: Transverse cerebellar diameter; CM: Cisterna magna diameter; d: Days; FL: Femur length; GA: Gestational age; GP: Gestational pregnancy; HC: Head circumference; HEM: Hemisphere diameter; HL: Humerus length; IOD: Interocular distance; m1: Measurement 1; m2: Measurement 2; Meth.: Method; NBL: Nasal bone length; NF: Neck fold; OFD: Occipitofrontal diameter; TAD: Transverse abdominal diameter; TTD: Transthoracic diameter; Va: Anterior horn of the lateral ventricle; Vp: Posterior horn of the lateral ventricle; w: Weeks
Figure 8
Figure 8
Ultrasound fetal biometry: correlation between 2D measurements and GA. 2D: Two-dimensional; AC: Abdominal circumference; APTD: Anterior-posterior fetal thigh diameter; AUA: Actual ultrasound age; BOD: Binocular distance; BPD: Biparietal diameter; Cereb: Transverse cerebellar diameter; d: Days; EFW: Estimated fetal weight; FL: Femur length; GA: Gestational age; HC: Head circumference; HL: Humerus length; LMP: Last menstrual period; OFD: Occipitofrontal diameter; TTD: Transthoracic diameter; w: Weeks
Figure 9
Figure 9
Femur length/head circumference (FL/HC) ratio (Hadlock). w: Weeks
Figure 10
Figure 10
Head circumference/abdominal circumference (HC/AC) ratio (Campbell). w: Weeks
Figure 11
Figure 11
Fetal karyotype: 69,XXY. Specimen type: Amniotic fluid. Giemsa staining (RHG technique). RHG: R-bands by heating using Giemsa
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