RESUMO
BACKGROUND: Recent studies have reported the efficacy of first trimester combined screening for Down Syndrome based on maternal age, serum markers (human chorionic gonadotropin, pregnancy-associated plasma protein A), and ultrasound measurement of fetal nuchal translucency. However, those do not incorporate the value of the widely accepted routine 20-22 week anomaly scan. STUDY DESIGN: We carried out a multi-centre, interventional study in the unselected population of a single health authority in order to assess the performance of first trimester combined screening, followed by routine second trimester ultrasound examination and/or screening by maternal serum markers (free beta-hCG and alpha-fetoprotein measurement or total hCG, alpha-fetoprotein and unconjugated estriol measurement) when incidentally performed. Detection and screen positive rates were estimated using a correction method for non verified issues. A cost analysis was also performed. RESULTS: During the study period, 14,934 women were included. Fifty-one cases of Down Syndrome were observed, giving a prevalence of 3.4 per 1000 pregnancies. Of these, 46 were diagnosed through first (N=41) or second (N=5) trimester screening. Among the 5 screen-negative Down syndrome cases, all were diagnosed postnatally after an uneventful pregnancy. Detection and screen positive rates of first trimester combined screening were 79.6% and 2.7%, respectively. These features reached 89.7 and 4.2%, respectively when combined with second trimester ultrasound screening. The average cost of the full screening procedure was 108 euro (120 $) per woman and the cost per diagnosed Down syndrome pregnancy was 7,118 euro (7,909 $). CONCLUSION: Our findings suggest that one pragmatic interventional two-step approach using first-trimester combined screening followed by second trimester detailed ultrasound examination is a suitable and acceptable option for Down syndrome screening in pregnancy.
Assuntos
Síndrome de Down/diagnóstico , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal , Adulto , Biomarcadores/sangue , Custos e Análise de Custo , Diagnóstico Diferencial , Feminino , Humanos , Idade Materna , Medição da Translucência Nucal , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal/economia , Diagnóstico Pré-Natal/métodos , Fatores de RiscoRESUMO
The prenatal diagnosis of ambiguous genitalia requires a complete examination of the fetal anatomy to rule out any other congenital defects and the analysis of the fetal genotype. In addition any additional information on the anatomy of the internal genitalia, i.e. the presence or absence of fetal uterus, may be relevant to the prenatal evaluation of female pseudo-hermaphroditism. The recent development of 3D and 4D ultrasound technology may be relevant to a more clearly identification of the fetal uterus. Volume contrast imaging (VCI) provides high contrast images by the realization of thick slices of the region of interest (ROI) thereby providing a clearer picture of the fetal uterus. The multiplanar mode may also facilitate the differentiation of the fetal uterus from the other intra-pelvic organs by offering images in three perpendicular planes. Finally, the tomographic ultrasound imaging (TUI) mode offers the ability to display on a single panel numerous 2-dimensional sections, as obtained using computed tomography imaging.
Assuntos
Transtornos do Desenvolvimento Sexual/diagnóstico , Feto/anatomia & histologia , Ultrassonografia Pré-Natal/métodos , Útero/diagnóstico por imagem , Feminino , Humanos , Aumento da Imagem , Gravidez , Tomografia , Útero/anatomia & histologiaRESUMO
OBJECTIVES: To evaluate de performances of noninvasive prenatal testing using cell free circulating fetal DNA (cffDNA) for the detection of fetal trisomy 21, 18 and 13 in a French population. MATERIALS AND METHODS: cffDNA analysis was performed by massive parallel sequencing during a multicenter, non interventional, prospective study and the results were compared with a standard fetal karyotype. RESULTS: Results were available for 886 patients who have been classified as high- or moderate-risk depending on the presence of fetal abnormalities on ultrasound examination. For the high-risk group (n=376), the sensitivity and specificity of the test were 100% and 99.9% for trisomy 21, 88% and 99.9% for trisomy 18 and 100% and 99.9% for trisomy 13. The rate of other pathogenic chromosomal abnormalities with a negative NIPT was 7.9%. In the low-risk group (n=510), the sensitivity was 100% and the specificity 99.8% for trisomy 21, and only 0.4% of pathogenic chromosomal abnormalities were revealed by fetal karyotyping but not detected by cffDNA analysis. CONCLUSION: Noninvasive prenatal testing using cffDNA for high risk patients without fetal anomalies at ultrasound could be recommended in France after counseling on the possible risk of undiagnosed anomalies.
Assuntos
Transtornos Cromossômicos/diagnóstico , Síndrome de Down/diagnóstico , Testes Genéticos/normas , Complicações na Gravidez/sangue , Diagnóstico Pré-Natal/normas , Trissomia/diagnóstico , Adulto , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 18 , Feminino , França , Testes Genéticos/métodos , Humanos , Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Prospectivos , Sensibilidade e Especificidade , Síndrome da Trissomia do Cromossomo 13 , Síndrome da Trissomía do Cromossomo 18RESUMO
We report a vesico-uterine fistula occurring after vaginal delivery in a woman with previous cesarean section. Diagnosis of this rare complication, only 2 cases reported in the literature, is based on clinical findings and retrograde cystography. Medical treatment should be attempted first, but laparotomy is often required for resection of the fistula and simple suture of the bladder and the uterus.
Assuntos
Fístula/etiologia , Trabalho de Parto , Fístula da Bexiga Urinária/etiologia , Doenças Uterinas/etiologia , Nascimento Vaginal Após Cesárea/efeitos adversos , Adulto , Anti-Infecciosos Urinários/uso terapêutico , Cicatriz , Corantes , Feminino , Fístula/diagnóstico , Fístula/diagnóstico por imagem , Fístula/cirurgia , Fístula/terapia , Humanos , Histerectomia , Azul de Metileno/uso terapêutico , Gravidez , Fístula da Bexiga Urinária/diagnóstico , Fístula da Bexiga Urinária/diagnóstico por imagem , Fístula da Bexiga Urinária/cirurgia , Fístula da Bexiga Urinária/terapia , Cateterismo Urinário , Urografia , Doenças Uterinas/diagnóstico , Doenças Uterinas/diagnóstico por imagem , Doenças Uterinas/cirurgia , Doenças Uterinas/terapiaRESUMO
Thrombosis of the umbilical artery was diagnosed in utero in two cases at the echography examination performed during the third trimester of gestation. The infants were born live and in good health. This is the first report of such antenatal diagnosis. The lack of prospective studies hinder the evaluation of fetal morbidity and mortality. Nevertheless, umbilical artery thrombosis is a high risk obstetrical situation since the potential risk of another thrombus in the second umbilical artery would lead to fetal death in utero. Careful monitoring is required with extraction of the fetus as soon as term allows or whenever the elements compromise fetal development.
Assuntos
Trombose/diagnóstico por imagem , Ultrassonografia Pré-Natal , Artérias Umbilicais , Adulto , Feminino , Humanos , Gravidez , Resultado da Gravidez , Terceiro Trimestre da Gravidez , Trombose/complicações , Trombose/patologia , Artérias Umbilicais/diagnóstico por imagemRESUMO
Down syndrome maternal serum screening is largely used in France. The aim of this article is to specify and to explain the different comments applied on the reports in order to optimize the management of the patient. These comments represent the consensus of the study group of the biologist accredited for Down syndrome maternal serum screening.
Assuntos
Síndrome de Down/sangue , Diagnóstico Pré-Natal/métodos , Biomarcadores/sangue , Gonadotropina Coriônica Humana Subunidade beta/sangue , Consenso , Feminino , França , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Proteína Plasmática A Associada à Gravidez/análise , Risco , alfa-Fetoproteínas/análiseRESUMO
OBJECTIVES: Chorionic villus sampling (CVS) in the first trimester of pregnancy has become a major tool in prenatal diagnosis. To increase the safety of CVS during training period, we have built a "BT-Trainer". MATERIALS AND METHODS: A medical device has been developed which simulates the in vivo procedure with the various layers to cross. The stratum of the layer and the accessibility of the placenta can modulate the level difficulty. CONCLUSION: Traditional strategies for clinical teaching are often insufficient and trainees may fail to achieve competence in even basic procedural skills. We present herein an easy and reproducible model of "BT-Trainer" which allows a safe and repeatable training. Efficacy of this model is currently under evaluation in a teaching program. This trainer could help gynaecologists in order to learn gradually and safely the technique and to enhance their skills and coordination.
Assuntos
Amostra da Vilosidade Coriônica/métodos , Procedimentos Cirúrgicos Obstétricos/educação , Competência Clínica , Feminino , Humanos , Procedimentos Cirúrgicos Obstétricos/efeitos adversos , Imagens de Fantasmas , Placenta , Gravidez , Ultrassonografia Pré-NatalRESUMO
We report a posterior urethral valves case diagnosed at 33 week's gestation on a fetus presenting with anamnios and urinary ascites. In this fetus, the serum beta2 microglobuline rate was high, suggesting a very poor renal prognosis. At 1-year-old, the creatinine rate is nearly normal. In case of urinary ascites, the serum beta2 microglobuline rate could be improved in relation with the transperitoneal reabsorption of this protein.
Assuntos
Ascite/embriologia , Doenças Fetais/sangue , Obstrução Uretral/embriologia , Microglobulina beta-2/sangue , Adulto , Ascite/sangue , Ascite/cirurgia , Feminino , Sangue Fetal/química , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Ultrassonografia Pré-Natal , Obstrução Uretral/sangue , Obstrução Uretral/diagnóstico por imagemRESUMO
We report a case of diprosopus presenting with increased nuchal translucency of 5.3 mm at 14 weeks of gestation. Ultrasonographically, the fetus presented with micrognathia, anterior indentation of the cephalic pole, abnormal cerebral hemispheres with a cystic 4th ventricle and angulation of the spine. The fetal karyotype was normal (46,XX). Following termination of pregnancy, postmortem examination established the diagnosis of diprosopus tetraophthalmus with facial cleft of the 2 faces.
Assuntos
Face/embriologia , Feto/anormalidades , Pescoço/diagnóstico por imagem , Pescoço/embriologia , Gêmeos Unidos , Ultrassonografia Pré-Natal , Aborto Induzido , Adulto , Feminino , Feto/patologia , Humanos , Cariotipagem , Gravidez , Segundo Trimestre da Gravidez , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/embriologiaRESUMO
Abnormalities of the corpus callosum are often associated with a poor prognosis due to the anatomical defect itself and associated anomalies that include malformations and inherited metabolic disorders. We report a case of the prenatal diagnosis of hypoplasia of the corpus callosum that was associated with non-ketotic hyperglycinemia. Metabolic disorders are a known association with corpus callosum abnormalities and carry a dismal prognosis. A diagnosis of non-ketotic hyperglycinemia should be considered when a fetus presents with an abnormality of the corpus callosum. A literature search reviews other inherited diseases associated with hypoplasia of the corpus callosum.
Assuntos
Agenesia do Corpo Caloso , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Doenças Fetais/diagnóstico , Hiperglicinemia não Cetótica/diagnóstico , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico por imagem , Eletroencefalografia/métodos , Evolução Fatal , Feminino , Doenças Fetais/diagnóstico por imagem , Glicina/sangue , Humanos , Hiperglicinemia não Cetótica/diagnóstico por imagem , Recém-Nascido , Masculino , Gravidez , Ultrassonografia Pré-Natal/métodosRESUMO
BACKGROUND: Predicting postnatal renal function is crucial for the prenatal evaluation of fetal bilateral uropathies. Prenatal ultrasound can identify intrauterine terminal renal failure, but is not sensitive enough to identify those infants who would survive with an impaired renal function. Because it reflects fetal glomerular filtration, fetal serum beta2-microglobulin is a potential predictor of postnatal renal function. METHODS: Fetal serum beta2-microglobulin (beta2m) was assayed in 61 cases of bilateral or low obstructive uropathy, 74 controls, and 17 cases of bilateral renal agenesis, and was correlated with renal function. RESULTS: Fetal serum beta2m was 3.2 mg/L (range 1.5 to 4.7) in controls (N = 74), 9.5 mg/L (range 6.7 to 11.3) in bilateral renal agenesis (N = 17), 7 mg/L (5.1 to 10.6) in uropathy in which terminal renal failure resulted in termination of pregnancy (N = 26), and 3.7 mg/L (range 2.3 to 11.2) in live births with uropathy (N = 35). In the latter subgroup, fetal serum beta2m was significantly and positively correlated (r2 = 0.91) with postnatal serum creatinine. All survivors with a postnatal serum creatinine < or =50 micromol/L ha a fetal serum beta2m lower than 5 mg/L. Four of 6 survivors with a postnatal serum creatinine> 50 micromol/L had a fetal serum beta2m greater than 5 mg/L. CONCLUSION: Fetal serum beta2-microglobulin is a marker for renal function and predicts postnatal serum creatinine in bilateral or low fetal obstructive uropathy.
Assuntos
Rim/fisiologia , Diagnóstico Pré-Natal , Obstrução Ureteral/sangue , Obstrução Uretral/sangue , Microglobulina beta-2/sangue , Biomarcadores , Pré-Escolar , Creatinina/sangue , Feminino , Taxa de Filtração Glomerular , Humanos , Lactente , Recém-Nascido , Rim/anormalidades , Valor Preditivo dos Testes , Gravidez , Ureter/anormalidades , Uretra/anormalidadesRESUMO
Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males.
Assuntos
Amniocentese , Cromossomos Humanos Par 21 , Cromossomos Humanos Y , Proteínas de Ligação a DNA/genética , Proteínas Nucleares , Aberrações dos Cromossomos Sexuais , Fatores de Transcrição , Translocação Genética , Adulto , Quebra Cromossômica , Cromossomos Humanos X , Feminino , Deleção de Genes , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Idade Materna , Fenótipo , Gravidez , Gravidez de Alto Risco , Proteína da Região Y Determinante do SexoRESUMO
When fetal urinary-tract malformations (UTM) are discovered, management is based on the prediction of postnatal renal function, currently made by fetal urinary biochemistry and sonography. Serum beta 2-microglobulin has been used postnatally to estimate renal function and does not cross the placenta. We investigated the relation between fetal serum beta 2-microglobulin and renal function by comparing 64 unaffected fetuses and 15 fetuses with UTM. A beta 2-microglobulin above a 5.6 mg/L cut-off gave cross-validated sensitivity of 80.0%, specificity of 98.6%, a positive predictive value of 88.9%, and a negative predictive value of 97.1% for our cohort study.