Fig. 1: Fetal magnetic resonance images (MRIs) demonstrating phenotypes of select prenatal exome sequencing (pES) cases. | Genetics in Medicine

Fig. 1: Fetal magnetic resonance images (MRIs) demonstrating phenotypes of select prenatal exome sequencing (pES) cases.

From: Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes

Fig. 1

(a) Case 1 at 26 3/7: severe hydrops fetalis, severe ventriculomegaly, abnormal brainstem morphology, cerebellar hypoplasia, and hepatomegaly. (b) Case 2 at 27 2/7: megalencephaly, frontal bossing, and thickened soft tissues of the chin. (c) Case 4 at 24 3/7: severely hypoplastic nose and micrognathia. (d) Case 6 at 24 4/7: significant scoliosis and slender limbs with deficient muscle mass. (e) Case 7 at 25 0/7: micrognathia, flattened facial profile, small and bell-shaped chest, pulmonary hypoplasia, shortened limbs, and generalized edema. (f) Case 9 at 30 4/7: severe micrognathia, small chest, and polyhydramnios.

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