Apert syndrome: prenatal diagnosis challenge.

Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge. A healthy 33-year-old woman, gravida 4, para 0, was referred to routine ultrasound at 22 weeks of gestation. Atypical cranial morphology with prominent forehead, ocular proptosis, hypertelorism and mitten hands were detected. Genetic investigation revealed an FGFR2 gene mutation (c.755C>G(p.Ser252Trp)), confirming the diagnosis. Magnetic resonance showed brachycephaly, turricephaly and cortical malformation. Following counselling, parents requested medical termination of pregnancy. Macroscopic features were consistent with ultrasound findings. This case emphasises the importance of early diagnosis to provide the best family counselling and prenatal management. A multidisciplinary team, consisting of an obstetrician with ultrasonography experience, a medical geneticist and a fetal pathologist, should conduct these cases.

[Uterine Rupture at 18 Weeks of Pregnancy in the Context of Malformed Uterus]. / Rotura Uterina às 18 Semanas de Gravidez no Contexto de Útero Malformado.

Birth defects of the female genital tract are relatively common and often asymptomatic. Despite the pregnancy outcome can be favorable, adverse obstetric outcomes are described in women with uterine malformations. The authors report the case of an obstetric emergency which enhances the possibility of a very adverse and rare outcome of uterine rupture in a left hemi-cavity of a bicornuate uterus away from the term, at 18 weeks of pregnancy, in a pregnant woman with history of caesarean in the right hemi-cavity and with placenta increta. A malformed uterus with a primitive type cavity has lower distensibility of the wall with the progression of the pregnancy and facilitates the development of abnormal placentation forms, increasing the risk of uterine rupture in the first and second trimesters. The knowledge of the existence of a congenital uterine anomaly in the preconceptional period is of primary importance.

As malformações congénitas do tracto genital feminino são relativamente comuns e frequentemente assintomáticas. Apesar do resultado da gravidez poder ser favorável, estão descritos desfechos obstétricos adversos em mulheres com malformações uterinas. Os autores apresentam o caso clínico de uma emergência obstétrica, que realça a possibilidade de um desfecho muito adverso e raro, de rotura uterina da hemicavidade esquerda num útero bicórneo longe do termo, às 18 semanas de gestação, numa grávida com antecedentes de cesariana na hemicavidade direita e com placenta increta. Um útero malformado, com cavidade de tipo rudimentar, apresenta menor distensibilidade da parede com a progressão da gravidez e facilita o desenvolvimento de formas anormais de placentação, aumentando o risco de rotura uterina no primeiro e segundo trimestres. O conhecimento da existência de uma malformaçãouterina no período pré-concepcional reveste-se de importância fundamental.