EP04.25: Antenatal diagnosis of a 16q‐ syndrome in a fetus with bilateral cleft lip and palate, cerebellar hypoplasia and club feet: a case report

We present a case of a 39 year old primigravid patient, who asked for a second opinion in 23/3 weeks of pregnancy because of multiple fetal anomalies seen on specialised ultrasound scan and amniocentesis with a normal karyotype, further genetic testing was declined by the parents at this stage. We saw a small-for gestational age fetus with an estimated fetal weight of 500 g (10thcentile) presenting with a bilateral cleft lip and palate, brachycephaly and hypoplasia of the cerebellum. In addition, we found bilateral club feet. The combination of anomalies suggested a syndromal cause, but prognostic evaluation at this stage remained difficult with the dilemma of termination was no option for us without a concise diagnosis and the isolated anomalies being assumingly well treatable. After intensive counselling, the parents eventually agreed to further investigation. Using Array-CGH an extremely rare (prevalence < 1:1000000) de novo-deletion at chromosome 16q22 was detected, going along with a 16q- syndrome. There are only a few case reports in the literature. Typical symptoms are SGA, microcephaly, moderate to severe neurological, motorial and intellectual handicaps, spastic dysplegia, dysmorphic face, large fontanelles and wide skull sutures. Furthermore, 16q- is associated with cleft lip and palate as well as congenital cardiac disease. Genetic workup delivered the diagnosis to asses the developmental prognosis. On the basis of a concise diagnosis interdisciplinary counseling lead to consent agreement induce labour and follow a concept of palliation at 25/6 weeks of the pregnancy. The infant was born alive (615 g) and died 30 min thereafter under palliative care (warmth and analgesia) in his parents arms. On paidopathological workup the prenatal ultrasound findings could be fully confirmed. The parents fed back content with the chosen management of the situation, refraining from active fetocide, labour induction and care in the delivery room and psychological support. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.