Usually, no alteration of the prenatal care is necessary.
A 21-year-old G2 P0 Caucasian woman, was referred to our unit for prenatal examination. Her previous pregnancy was terminated at 20 weeks of gestation due to hydrocephalus. The patient was of a very short stature, 146 cm, she had a clinodactyly of the 5th finger, a skin with Café-au-lait spots, a small triangular face, prominent forehead, mandibular micrognathia with a pointed chin, wide mouth with down-turned corners. The mother of our patient had a very similar phenotype.
Our ultrasound examination at 18 weeks revealed fetus with an incipient symmetrical growth restriction, biometry corresponded to 17 weeks of gestation. There was a mild dilation of the lateral ventricles, 9 mm and ambiguous genitalia. No other fetal anomalies were detected. A triple screen was negative.
Our follow-up examination two weeks later revealed a further growth restriction, ventriculomegaly, hypospadia and facial dysmorphism and clinodactyly of the 5th finger.
Our diagnosis based on the ultrasound findings was Silver-Russell syndrome. Patient decided to continue her pregnancy. Amniocentesis showed normal karyotype, 46 XY. Patient delivered at term, the newborns's weight was 2200 grams. A geneticist confirmed our prenatal diagnosis of Silver-Russell syndrome.
Images 1,2: Image 1 shows a fetal profile. Image 2 shows a lateral ventricle measuring 9 mm.