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.

Paternal uniparental disomy for chromosome 14: prenatal management.

We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks' gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks' gestation, an amniocentesis was performed and karyotype analysis revealed a balanced Robertsonian translocation between chromosomes 13 and 14 in a female fetus (45,XX,der(13;14)(q10;q10)). Given this result and ultrasound findings, karyotype and molecular study of the couple were suggested. The results pointed out the absence of maternal contribution to the analysed regions by paternal uniparental disomy for chromosome 14 (isodisomy), which is associated with a severe phenotype. The correlation between ultrasound findings and the genetic study is primordial to guide the diagnostic assessment and to establish the prognosis of the fetal pathology.

Single Fetal Death in Monochorionic Twin Pregnancy: Co-Twin Prognosis and Neonatal Outcome.

The incidence of single fetal death in twin pregnancy varies from 0.5% - 6.8%, leaving the surviving fetus with increased morbi-mortality. The prognosis is worse in monochorionic pregnancies. In addressing these cases it should be noted referral to tertiary center with differentiated perinatal support, induction of fetal lung maturation and termination of pregnancy if there's loss of fetal well-being or possibility of maternal complications and suspected neurological sequelae in the surviving fetus. The risk of iatrogenic prematurity should always be weighed with the possible consequences arising from the fetus staying in a hostile uterine environment. The authors describe a case of a 32-year-old pregnant woman with monochorionic/diamniotic twin pregnancy diagnosed with death of one of the fetuses due to fetal growth restriction and velamentous insertion of the umbilical cord at 30 weeks of gestation. The couple opted for termination of pregnancy at 33 weeks after documentation of brain changes in the surviving fetus.

A incidência de morte fetal de um feto na gestação gemelar varia de 0,5% - 6,8%, deixando o feto sobrevivente com morbi-mortalidade aumentada. O prognóstico é pior em gestações monocoriónicas. Ao abordar estes casos importa realçar a referenciação a centro terciário com apoio perinatal diferenciado, a indução da maturação pulmonar fetal e a interrupção da gravidez se houver perda de bem-estar fetal ou possibilidade de complicações maternas ou suspeita de sequelas neurológicas no feto sobrevivente, devendo os riscos da prematuridade iatrogénica serem sempre pesados com as possíveis sequelas decorrentes da permanência do feto num ambiente uterino hostil. Os autores descrevem o caso de uma mulher de 32 anos com gravidez monocoriónica/diamniótica com morte de um dos fetos, com restrição de crescimento grave e inserção velamentosa do cordão umbilical, pelas 30 semanas de gestação. O casal optou pela terminação da gravidez às 33 semanas, após documentação de alterações cerebrais no feto sobrevivente.

Goldenhar syndrome: a rare diagnosis with possible prenatal findings.

Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome.

[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.