RESUMO
OBJECTIVE: The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation. METHODS: In this retrospective study, we reviewed 622 pregnancies with polyhydramnios seen at Lucile Packard Children's Hospital between 2008 and 2017. The findings from 131 cases evaluated by Medical Genetics were included in our final analysis. Genetic testing information was extracted to determine the rate of chromosomal or single gene conditions focusing on the RASopathies. Additional variables collected were: maternal characteristics, ultrasound findings, and the severity and timing of diagnosis of polyhydramnios. RESULTS: Postnatal genetic testing or clinical examination identified a genetic disorder in 63 (48.1%) cases, more than half (n = 33) of which had a single gene condition. Postnatal testing revealed an underlying RASopathy in 15 (11.5%) cases. An underlying RASopathy was significantly associated with the severity and timing of polyhydramnios (p < 0.05). CONCLUSION: Focusing on a selected cohort postnatally evaluated by Medical Genetics, our study identified a chromosomal or genetic disorder in almost half of pregnancies complicated by polyhydramnios. Specifically, an underlying RASopathy was found in 11.5% of cases with 13/15 of these cases having additional ultrasound findings.
Assuntos
Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/genética , Adulto , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/epidemiologia , Malformações Arteriovenosas/genética , Capilares/anormalidades , Estudos de Coortes , Síndrome de Costello/diagnóstico , Síndrome de Costello/epidemiologia , Síndrome de Costello/genética , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/epidemiologia , Displasia Ectodérmica/genética , Fácies , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/genética , Feminino , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Humanos , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/epidemiologia , Síndrome de Noonan/genética , Poli-Hidrâmnios/epidemiologia , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/epidemiologia , Mancha Vinho do Porto/genética , Gravidez , Prevalência , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricosRESUMO
BACKGROUND: Bladder cancer is exceedingly rare in pregnancy and most commonly presents with gross hematuria. CASES: We describe two patients with the incidental finding of maternal bladder masses identified during routine first-trimester obstetric ultrasonographic evaluation and an ultimate diagnosis of carcinoma. After referral for urology evaluation and biopsy confirmation of bladder cancer, patients underwent surgical resection during their pregnancies without the need for further treatment and had uncomplicated pregnancy courses. CONCLUSION: The distended maternal urinary bladder at the time of first-trimester ultrasonographic evaluation offers a unique opportunity for examination and early diagnosis of incidental maternal bladder carcinoma.