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| Kessler,Rejane G.; Sanseverino,Maria Teresa V.; Leistner-Segal,Sandra; Magalhães,José A.A.; Giugliani,Roberto. |
| The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. Although, the option of terminating abnormal pregnancies does not legally exist in... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Prenatal diagnosis; Chromosomal abnormalities; Fetal malformations. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500004 |
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| Duque,Julio Alejandro Peña; Ferreira,Charles Francisco; Zachia,Suzana de Azevedo; Sanseverino,Maria Teresa Vieira; Gus,Rejane; Magalhães,José Antônio de Azevedo. |
| Abstract Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Natural history of trisomy; Trisomy 13; Trisomy 18; Prenatal diagnosis; Genetic counseling. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200286 |
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| Mattos,Eduardo P.; Sanseverino,Maria Teresa V.; Magalhães,José Antônio A.; Leite,Júlio César L.; Félix,Temis Maria; Todeschini,Luiz Alberto; Cavalcanti,Denise P.; Schüler-Faccini,Lavinia. |
| Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Campomelic dysplasia; Skeletal dysplasia; Osteochondrodysplasias; SOX9; Prenatal diagnosis. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100014 |
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| Zielinsky,P.; Nicoloso,L.H.; Firpo,C.; Marcantonio,S.; Scheid,M.; Gus,E.I.; Piccoli,A.L.; Satler,F.; Manica,J.L.; Zanettini,J.; Cardoso,R.T.. |
| Alternative methods to assess ventricular diastolic function in the fetus are proposed. Fetal myocardial hypertrophy in maternal diabetes was used as a model of decreased left ventricular compliance (LVC), and fetal respiratory movements as a model of increased LVC. Comparison of three groups of fetuses showed that, in 10 fetuses of diabetic mothers (FDM) with septal hypertrophy (SH), the mean excursion index of the septum primum (EISP) (ratio between the linear excursion of the flap valve and the left atrial diameter) was 0.36 ± 0.09, in 8 FDM without SH it was 0.51 ± 0.09 (P = 0.001), and in the 8 normal control fetuses (NCF) it was 0.49 ± 0.12 (P = 0.003). In another study, 28 fetuses in apnea had a mean EISP of 0.39 ± 0.05 which increased to 0.57 ±... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fetal echocardiography; Fetal diastolic function; Prenatal diagnosis; Septum primum mobility; Fetal pulmonary vein flow. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000100005 |
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