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OP23.10: Prenatal genetic screening and neonatal outcomes in fetuses with echogenic intra‐abdominal structures
Author(s) -
Dellapiana G.,
Lee E.,
Datkhaeva I.,
Scibetta E.,
Han C.S.,
Platt L.D.
Publication year - 2018
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.19613
Subject(s) - medicine , genetic testing , horseshoe kidney , fetus , gallbladder , echogenicity , obstetrics , abdomen , kidney , radiology , pregnancy , gynecology , ultrasound , biology , genetics
and their subunits implicated in chromatin remodelling, leading to clinical complications such as neurological development impairment, cancers or high risk of recurrent infections that appear during childhood. We report a case of prenatal diagnosis of CSS. The mother (Gravida 3, Para 2) had no prior medical history. The first ultrasound showed no abnormality. At 18 weeks’ gestation, the ultrasound showed hydrocephalus and macrocephaly, corpus callosum agenesis, a left diaphragmatic hernia, severe IUGR (2nd percentile) and a ventricular septal defect. She requested a medical termination which was accepted according to French law. The autopsy showed an aplasia of the distal phalanx (5th finger), a coarse facies and malformations were confirmed. Sequencing analysis found a de novo ARID1A mutation which is responsible for CSS. Our case highlights signs that could lead to evoking the diagnosis. IUGR is the most frequent sign described prenatally. Ventriculomegaly however had never been described in CSS. Cardiac malformations or cleft palate have been reported in infants with CSS. Their prenatal description remains extremely rare. In one recent case report, ultrasound showed left diaphragm hernia with IUGR, aortic arch hypoplasia, small left sided cardiac structures and a ventricular septal defect. The karyotype was normal, and the diagnosis of CSS was based on clinical findings and whole genome sequencing after birth (ARID1B mutation). To our knowledge, our case and this one are the most severe cases described so far. However, the possibility of prenatal diagnosis appears limited in the absence of an index case. The typical features cannot be seen by sonography, and the malformations reported are variable and non-specific.