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Virtual poster abstracts subdiaphragmatic bronchopulmonary sequestration. Fetal abdominal mass continued to grow to 4.7 x 3.0 cm at 35weeks of gestation. When a woman came to delivery unit due to labour pain at 38 weeks' gestation, the size of mass increased to 5.1 X 3.5 cm with mixed echogenicity and hepatomegaly was accompanied. After a vaginal delivery, postnatal ultrasonography and MRI revealed a left suprarenal space neuroblastoma, multiple liver metastasis with marked hepatomegaly, and splenomegaly. Poorly differentiated neuroblastoma was diagnosed on excision biopsy. Although most of stage 4s neuroblastoma shows good prognosis, rapid growing mass and hepatomegaly, followed by abdominal expansion and dyspnea are considered as a main obstacle to full patient cure. We conclude that a prenatal rapid growing mass in suprarenal area, which is suggestive of neuroblastoma, requires close monitoring with disease staging. Planned delivery may be considered for prompt neonatal treatment, because disease progression can be overwhelmingly rapid. VP11.16 Multicystic dysplasic kidney: postnatal involution and compensatory hypertrophy

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Objectives: To assess whether the prenatal phenotype of CHARGE syndrome overlaps with the classic phenotype described for this syndrome that includes coloboma, cardiac defect, choanal atresia, growth and developmental delay, genital hypoplasia, and ear anomalies. Methods: Fetuses with a prenatal clinical exome sequencing performed after a normal QF-PCR and microarray result, during a 5-year period (June 2017-January 2022) at our centre were reviewed. Results: Three cases of CHARGE syndrome were diagnosed by clinical exome sequencing revealing the same pathogenic variant c.5458C>T, p. Arg1820T in the CHD7 gene:Case 1: 37-year-old pregnant woman. The anomaly scan at 21 +5 weeks identified a moderate ventriculomegaly and a dysgenetic corpus callosum (no splenium identified) with a decreased length.Case 2: 33-year-old pregnant woman. At a 17 +3 weeks scan, a bilateral cleft lip and palate and a conotruncal cardiac defect was detected. Postmortem studies after termination of pregnancy identified a ventricular septal defect with aortic end-splitting and confirmed the bilateral cleft lip and palate.Case 3: 36-year-old pregnant woman. Ultrasound at 32 +1 weeks detected a mild bilateral ventriculomegaly of 11.5 mm. Magnetic resonance imaging reported the non-identification of the olfactory grooves. Postmortem studies after termination found bilateral microtia, ponto-cerebellar hypoplasia and anomalous anterior medullary-pontine junction indentation. Conclusions: The fetal phenotype observed for CHARGE syndrome does not overlap with the classic description of CHARGE syndrome, since among the 6 signs classically defining CHARGE syndrome, only a cardiac defect was seen in one of the 3 cases. In the two other fetuses only complex central nervous system anomalies were prenatally observed.

Objectives: Coffin-Siris syndrome (CSS) is a rare AD disorder caused by mutations in genes of BAF chromatin-remodelling complex, characterised by aplasia/hypoplasia of the distal phalanx/nail of the fifth digit, intellectual disability, distinctive facial features, hypotonia, hypertrichosis and sparse scalp hair. Rare prenatal manifestations of CSS have been reported. We describe prenatal manifestations detected in 3 fetuses with CSS. Methods: Retrospective review of prenatal and postnatal data of 3 patients referred for fetal anomalies. Results: Fetal anomalies included: increased nuchal translucency (2); early IUGR increasing in severity with pregnancy (3); macrocrania (2); callosal agenesis; cerebellar hypoplasia (3); cardiac anomalies (3); thoracic anomalies (3): lung hypoplasia (3); diaphragmatic agenesis (1); left diaphragmatic hernia (1); Polyhydramnios (3).Distal skeletal anomalies (2): flexion of all toes; adduction of first toes (1); short fifth digits (1); talipes equinovarus (1); scoliosis (1); multicystic dysplastic kidney (1); facial dysmorphism (1).Two families opted for comfort management, and postnatal explorations; both neonates died after a few hours. A pathogenic de novo variant of ARID 1 A was identified for each. Pathological exam was accepted for one and demonstrated evocative facial and digital features. X-rays diagnosed aplasia and hypoplasia of multiple phalanges (including the distal phalanges of fifth digits), 4 tarsal bone ossification centres (1) and 13 pairs of ribs (2). The third neonate with left diaphragmatic hernia is now 11 months old. Postnatal exam confirmed IUGR, microcephaly, and detected incomplete posterior palatal fissure, ungueal hypoplasia of the fifth digits, hypospadias, and inguinal hernia. A pathogenic de novo variant of SMARCA4 (c.2339A > G) was identified. Conclusions: CSS must be included in the differential diagnosis when fetus with IUGR present with midline CNS anomalies, right cardiac cavities predominance, and lung hypoplasia. A careful search for typical fifth digital hypoplasia and facial dysmorphism should be done.