Use of Three-Dimensional Ultrasound to Establish the Prenatal Diagnosis of Fryns Syndrome

Abstract

Three-dimensional (3D) imaging permits surface reconstructions that allow a better view of the appearance of organs. We report a case of a fetus with cystic hygroma diagnosed at 11 weeks of gestation, associated with a diaphragmatic hernia. With the 3D reconstruction, we examined the fetal face much more easily, which presented facial dysmorphology, retrognathia, macrostomia and a broad nasal bridge. The conjunctions of these pathological features and a normal karyotype allowed to establish a prenatal diagnosis of Fryns syndrome, confirmed by autopsy.

Prenatal and postnatal findings in five cases of Fryns syndrome

“…In particular, distal limb malformations, which seem to be a strong key to the diagnosis when associated with CDH, were not detected in prenatal diagnosis even in a tertiary center. By reviewing the 11 cases of the prenatal diagnosis of FS in the scientific literature, we found that most of them (eight) fell into the atypical group spectrum according to the diagnostic criteria proposed by Lin et al . having only two out of six required criteria based on the prenatal observation.…”

“…A very few cases (11) of prenatal diagnosis for FS have been reported since 1988. 1,[11][12][13][14][15][16][17] As far as we can tell, the prenatal phenotype of this condition has never been described in detail, and recent literature is lacking.…”

Three‐dimensional ultrasonographic imaging in obstetrics: present and future applications.

“…9) with exquisite detail. [18][19][20][21][22] Detailed imaging of the yolk sac, omphalomesenteric duct, trunk and umbilical cord, head and face, spine, extremities, and even genitalia is possible. This imaging provides opportunities for earlier and improved diagnosis of fetal anomalies in the first trimester and may potentially limit the need for more-invasive imaging techniques such as embryofetoscopy.…”

Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1

“…Fryns (1995) suggested the association of prenatal overgrowth with Fryns syndrome. Van Wymersch et al (1996) reported the prenatal 3-D ultrasound reconstruction of the facial dysmorphism associated with Fryns syndrome. Cystic Figure 2-Craniofacial dysmorphism of the proband at birth hygroma or nuchal thickening has been noted to be an important sonographic marker for Fryns syndrome in addition to congenital diaphragmatic hernia (Bulas et al, 1992;Hösli et al, 1997;Sheffield et al, 1998).…”