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. 2008 Nov;18(4):345-9.
doi: 10.4103/0971-3026.43845.

Prenatal diagnosis of fetal syndromes

Bs Rama Murthy  1
Affiliations

Prenatal diagnosis of fetal syndromes

Bs Rama Murthy. Indian J Radiol Imaging. 2008 Nov.

Abstract

A syndrome is a pattern of multiple anomalies arising due to a single known causative factor. Ultrasonography has enabled us to recognize many fetal anomalies and dysmorphic features. Recognition of the anomaly pattern leads to the diagnosis of a particular syndrome. This enables us to counsel prospective parents and aids in management. We present a selection of fetal syndromes in the form of a pictorial essay.

Keywords: Fetal; prenatal; syndromes; ultrasound.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1 (a–c)
Figure 1 (a–c)
Beckwith-Weideman syndrome. Coronal view of the fetal kidneys (a) shows bilateral nephromegaly (arrows). Coronal view of the fetal face (b) shows macroglossia (arrowhead). Postnatal picture (c) shows macrosomia and macroglossia
Figure 2 (a–d)
Figure 2 (a–d)
Walker-Warburg syndrome. Axial sections of the fetal cranium show occipital encephalocele (arrow in a) and absent sulci (b). Parasagittal section of the fetal orbit (c) shows retinal detachment (arrowhead). Autopsy picture of the fetal brain (d) demonstrates agyria
Figure 3 (a–c)
Figure 3 (a–c)
Wolf-Hirschhorn syndrome. Prenatal 3D USG image (a) and postnatal picture of the face (b) show a prominent glabella. Partial karyotype (c) shows 4p deletion (arrow)
Figure 4 (a–c)
Figure 4 (a–c)
Turner syndrome. Axial section of the fetal thorax (a) shows bilateral pleural effusions. Axial section of the fetal cranium (b) shows a cystic hygroma. Interphase FISH shows a single X chromosome (green fluorescent dot) in each amniocyte
Figure 5 (a–c)
Figure 5 (a–c)
Holt-Oram syndrome. Fetal right (a) and left (b) forearms show radial aplasia and club hand. Four-chamber view of the heart (c) shows an atrioventricular septal defect
Figure 6 (a–c)
Figure 6 (a–c)
Meckel-Gruber syndrome. Axial section of the abdomen (a) shows bilateral enlarged hyperechoic kidneys (arrows). Sections through right and left hands (b and c respectively) show bilateral postaxial polydactyly
Figure 7 (a–e)
Figure 7 (a–e)
Crouzon syndrome. Axial and coronal sections of the fetal cranium (a) show a fused coronal suture and a clover-leaf calvarium. Coronal section of the face (B) shows prominent orbits. Surface rendering of fetal face (c) shows proptosis. Anteroposterior radiograph of the skull (d) and postabortal picture (e) of the abortus show typical features
Figure 8 (a–d)
Figure 8 (a–d)
Klippel-Trenaunay-Weber syndrome. Subcutaneous, septate, cystic space-occupying lesions are seen in the right thigh (a) and left arm (b) regions, with extensive subcutaneous edema (c) in the left leg. Postabortal picture (d) of the trunk and lower limbs shows extensive edema
Figure 9 (a–e)
Figure 9 (a–e)
Pseudo-TORCH syndrome. Fetal cardiomegaly (a), elevated middle cerebral artery velocity (greater than 1.5 MoM) (b), fetal splenomegaly (arrows in c) and fetal periventricular calcification (arrowheads in d) are seen. Fetal cranial MRI (e) shows cerebral atrophy. All these features coupled with a negative maternal serology for infection, are diagnostic
Figure 10
Figure 10
Toxoplasmosis. Fetal hepatosplenomegaly is seen with ascites. Maternal serology was positive for toxoplasma
See this image and copyright information in PMC

References

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