RESUMO
OBJECTIVE: To elucidate an etiology in a case with persistent oligohydramnios by prenatal diagnosis and actively treat the case to achieve good prognosis. METHODS: We performed whole exome sequencing (WES) of DNA from the fetus and parents. Serial amnioinfusions were conducted until birth. Pressors were required to maintain normal blood pressure. The infant angiotensin-converting enzyme (ACE) activity, angiotensin II (Ang II, a downstream product of ACE), and compensatory enzymes (CEs) activities were measured. Compensatory enzyme activities in plasma from age-matched healthy controls were also detected. RESULTS: We identified a fetus with a severe ACE mutation prenatally. The infant was born prematurely without pulmonary dysplasia. Hypotension and anuria resolved spontaneously. He had almost no ACE activity, but his Ang II level and CE activity exceeded the upper limit of the normal range and the upper limit of the 95% confidence interval of controls, respectively. His renal function also largely recovered. CONCLUSION: Fetuses with ACE mutations can be diagnosed prenatally through WES. Serial amnioinfusion permits the continuation of pregnancy in fetal ACE deficiency. Compensatory enzymes for defective ACE appeared postnatally. Renal function may be spared by preterm delivery; furthermore, for postnatal vasopressor therapy to begin, improving renal perfusion pressure before nephrogenesis has been completed.
Assuntos
Oligo-Hidrâmnio , Peptidil Dipeptidase A , Gravidez , Recém-Nascido , Masculino , Feminino , Humanos , Peptidil Dipeptidase A/genética , Diagnóstico Pré-Natal , Feto , Oligo-Hidrâmnio/diagnóstico por imagem , Oligo-Hidrâmnio/terapia , Parto ObstétricoRESUMO
BACKGROUND: Congenital hydrocephalus is a descriptive diagnosis of symptoms, that are present for numerous reasons, including chromosomal disorders, genetic mutations, intrauterine infection and hemorrhage, amongst other factors. Mutation of L1CAM gene is the most frequent cause of congenital hydrocephalus, contributing to approximately 30% of X-linked congenital hydrocephalus. METHODS: In the present study, we used whole-exome sequencing and Sanger sequencing to investigate an aborted male fetus present with severe congenital hydrocephalus at 24 weeks of gestation, whose mother had a history of two previous voluntary terminations of pregnancies as a result of hydrocephalus. Magnetic resonance imaging, an autopsy and electron microscopy were performed and the phenotypic changes were described. RESULTS: Whole-exome sequencing in the fetus, as well as variant segregation analysis, revealed a novel maternally derived hemizygous nonsense mutation (c.2865G>A; p. Y955*) in exon 21 of the L1CAM gene (NM_000425.4). Severe hydrocephalus was observed along with marked dilatation of lateral ventricles. An electron micrograph of the surface of lateral ventricle walls revealed a lack of ependymal cilia. CONCLUSION: The present study suggests that L1CAM mutation screening should be considered for a male fetus with isolated hydrocephalus, especially with a family history, which could facilitate prenatal diagnosis in a subsequent pregnancy.
Assuntos
Aqueduto do Mesencéfalo/anormalidades , Códon sem Sentido/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hidrocefalia/congênito , Hidrocefalia/genética , Molécula L1 de Adesão de Célula Nervosa/genética , Aqueduto do Mesencéfalo/diagnóstico por imagem , Feminino , Feto/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico por imagem , Humanos , Hidrocefalia/diagnóstico por imagem , Masculino , Mutação , Linhagem , Gravidez , Sequenciamento do ExomaRESUMO
OBJECTIVES: To investigate the prenatal diagnosis of severe primary fetal hydrothorax and the clinical outcome after intrauterine thoracentesis. METHODS: A total of 12 patients with severe PFHT and thoracentesis, who were admitted to Xiangya Hospital, Central South University from January 2016 to December 2018, were enrolled. The clinical data were retrospectively analyzed. RESULTS: Five cases were bilateral pleural effusion, 6 on the right side, and 1 on the left side. All cases were accompanied with polyhydramnios, 4 cases with ascites, and 3 cases with skin edema. Ten patients underwent 1 thoracentesis puncture, 1 case for twice, and 1 case for 5 times. Hydrothorax test results of all cases were consistent with primary pleural effusion. Three patients underwent labor induction, 4 of 9 live births had mild asphyxia, 8 required respiratory support, and 7 needed the closed thoracic drainage. All children were fed with medium-chain fatty acid milk powder. CONCLUSIONS: Thoracentesis is one of the measures for intrauterine intervention in severe PFHT, which can improve the prognosis of children. Respiratory support, closed thoracic drainage, medium-chain fatty acid feeding are given to newborn. After these treatments, the survival rate is high and the prognosis is good.
