Antônio Gomes de Amorim Filho

Análise dos resultados maternos e fetais dos procedimentos invasivos genéticos fetais: um estudo exploratório em Hospital Universitário

OBJECTIVE To characterize the indications of pregnant women who sought the Fetal Medicine Services of the Hospital das Clínicas, at the Medical School of the Universidade de São Paulo for performing invasive diagnostic procedures, and to evaluate the results of fetal karyotypes and their pregnancies. METHODS A retrospective and observational study on pregnant women who underwent chorionic villus sampling (CVS), amniocentesis, and cordocentesis in the period from February, 2005 to December, 2009. Other diagnostic or therapeutic procedures were not included. The result of pregnancy was obtained by consulting patient electronic records, medical records, and/or telephone call. RESULTS 713 procedures were performed (113 CVS, 340 amniocenteses, and 260 cordocenteses). The main indication for performing invasive procedures was the presence of structural changes in fetuses, followed by increased values of nuchal translucency, and advanced maternal age. Fetal karyotype was altered in 186 cases (26.1%). The 18 trisomy was the commonest aneuploidy followed by the 21 trisomy, X monosomy, and 13 trisomy. There were 4.9% cases of miscarriage, 25.7% cases of stillborn infants, and 13% cases of neonatal deaths. Eight pregnant women opted for legally induced abortion. 99% of pregnant women whose fetuses did not present abnormalities and presented normal fetal karyotype had infants who were born alive.Summary Objective: To characterize the indications of pregnant women who sought the Fetal Medicine Services of the Hospital das Clinicas, at the Medical School of the Universidade de Sao Paulo for performing invasive diagnostic procedures, and to evaluate the results of fetal karyotypes and their pregnancies. Methods: A retrospective and observational study on pregnant women who underwent chorionic villus sampling (CVS), amniocentesis, and cordocentesis in the period from February, 2005 to December, 2009. Other diagnostic or therapeutic procedures were not included. The result of pregnancy was ob tained by consulting patient electronic records, medical records, and/or telephone call. Results: 713 procedures were performed (113 CVS, 340 amniocenteses, and 260 cordocenteses). The main indication for performing invasive procedures was the presence of structural changes in fetuses, followed by increased values of nuchal translucency, and advanced maternal age. Fetal karyotype was altered in 186 cases (26.1%). The18 trisomy was the commonest aneuploidy followed by the 21 trisomy, X monosomy, and 13 trisomy. There were 4.9% cases of miscarriage, 25.7% cases of stillborn infants, and 13% cases of neonatal deaths. Eight pregnant women opted for legally induced abortion. 99% of pregnant women whose fetuses did not present abnormalities and presented normal fetal karyotype had infants who were born alive.

Utilização de ácidos nucleicos fetais livres no plasma materno para o diagnóstico pré-natal: realidade do Brasil neste cenário

The discovery of cell-free fetal nucleic acids in the plasma of pregnant women has allowed the development of new, noninvasive prenatal diagnostic tests for the determination of fetal gender and Rh. These tests have been implemented in the public health system in several countries of Europe for over five years. The new possibilities for diagnostic use of these technologies are the detection of fetal chromosomal aneuploidies, monogenic fetal disorders, and placental-related disorders, subjects that have been intensively studied by several groups around the world. The aim of this review was to assess the Brazilian research and clinical scenarios regarding the utilization of commercially available tests that use these plasma markers, stressing the advantages, both economic and safety-related, that non-invasive tests have when compared to those currently used in the Brazilian public health system.

A Zika virus-associated microcephaly case with background exposure to STORCH agents

We present a case of microcephaly associated with Zika virus (ZIKV) in a chronological, multimodal imaging approach, illustrating the hallmarks of this disease on intrauterine morphological ultrasound, transfontanelar ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI). We also determined the serological e immunological status of the mother and newborn. Noticeably, there was evidence for maternal infection by ZIKV, cytomegalovirus (CMV), herpes simplex virus (HSV), dengue virus (DENV) and Toxoplasma gondii, which indicates a possible role of previous exposures to STORCH agents and possibly comorbidities in the severe fetal congenital manifestation. Author Summary Zika virus (ZIKV) is an emerging mosquito-borne arbovirus causing dengue-like symptoms. In humans the illness is characterized by malaise and cutaneous rash and absent or short-termed fever. Recently, the Brazilian Ministry of Health reported an outbreak of microcephaly in Brazil as a delayed effect of the 2014-2015 outbreak of ZIKV in the Northeast of Brazil. A 20-fold increase in the notifications of newborns with microcephaly was documented during the second semester of 2015. This increase was almost immediately found to be associated with ZIKV infections, both in Brazil and, retrospectively, in French Polynesia. Herein we report a case of microcephaly associated with ZIKV and we also present evidence of other maternal infections. Our results indicated that, both mother and microcephaly infant had immunologic status compatible with previous exposure (in the mother) by STORCH agents. These indicate a possible role of previous exposures and possibly comorbidities in the severe fetal congenital manifestation. □

The role of three-dimensional ultrasound in pregnancies submitted to cerclage

OBJECTIVE Cervical cerclage is the standard treatment for cervical incompetence (CI); however, there is still a high risk of preterm birth for women who undergo this treatment. The aim of this study was to longitudinally evaluate findings on two-dimensional transvaginal ultrasonography (2DTVUS) and three-dimensional transvaginal ultrasonography (3DTVUS) that could be related to gestational age at birth. METHODS A total of 68 pregnant women who were treated with cerclage were evaluated by 2DTVUS and 3DTVUS in the second and third trimesters of pregnancy. Log-rank tests and Cox regression analyses were used to identify significant findings related to gestational age at delivery. RESULTS A cervical length lower than 281 mm (p= 0.0083), a proximal cervical length lower than 10 mm (p= 0.0151), a cervical volume lower than 18.17 cm3 (p= 0.0152), a vascularization index (VI) under 2.153 (p= 0.0044), and a vascularization-flow index (VFI) under 0.961 (p= 0.0059) in the second trimester were all related to earlier delivery. In the third trimester, a cervical length lower than 20.4 mm (p= 0.0009), a VI over 0.54 (p= 0.0327) and a VFI over 2.275 (p= 0.0479) were all related to earlier delivery. Cervical funnelling in the second and third trimesters and proximal cervical length in the third trimester were not related to gestational age at birth. The COX regression analyses showed that cervical volume in the second trimester; FI and VFI in the third trimester were significantly associated with gestational age at birth. CONCLUSION In women treated with history-indicated cerclage or ultrasound-indicated cerclage, 2nd trimester cervical volume and 3rd trimester FI and VFI are independent significant sonographic findings associated with time to delivery.

Parameters Associated with Adverse Fetal Outcomes in Parvovirus B19 Congenital Infection

Objective To investigate the clinical and sonographic parameters associated with adverse fetal outcomes in patients with congenital parvovirus B19 infection managed by intrauterine transfusion. Methods This was a single-center retrospective study conducted from January 2005 to December 2016 that assessed patients with singleton pregnancies with fetal parvovirus infection confirmed by a polymerase chain reaction of the amniotic fluid or fetal blood samples who underwent at least one intrauterine transfusion. The maternal characteristics, sonographic findings and parameters related to intrauterine transfusion were compared between the two groups (recovery/non-recovery), who were categorized based on fetal response after in-utero transfusions. Progression to fetal death or delivery without fetal recovery after the transfusions was considered non-recovery and categorized as an adverse outcome. Results The final analysis included ten singleton pregnancies: seven of which were categorized into the recovery group and three of which into the non-recovery group. The baseline characteristics were similar between the groups. All fetuses were hydropic at the time of diagnosis. No significant differences related to sonographic or intrauterine transfusion parameters were identified between the groups; however, the non-recovery group tended to have an increased number of sonographic markers and lower fetal hemoglobin and platelet levels before the transfusion. Conclusion We were unable to firmly establish the clinical or sonographic parameters associated with adverse fetal outcomes in patients with parvovirus infection managed with intrauterine transfusions; however, edema, placental thickening and oligohydramnios may indicate greater fetal compromise and, subsequently, adverse outcomes. However, further studies are necessary, mainly due to the small number of cases analyzed in the present study.

Análise dos resultados maternos e fetais dos procedimentos invasivos genéticos fetais: um estudo exploratório em Hospital UniversitárioAnalysis of fetal and maternal results from fetal genetic invasive procedures: an exploratory study at a University Hospital

OBJECTIVE To characterize the indications of pregnant women who sought the Fetal Medicine Services of the Hospital das Clínicas, at the Medical School of the Universidade de São Paulo for performing invasive diagnostic procedures, and to evaluate the results of fetal karyotypes and their pregnancies. METHODS A retrospective and observational study on pregnant women who underwent chorionic villus sampling (CVS), amniocentesis, and cordocentesis in the period from February, 2005 to December, 2009. Other diagnostic or therapeutic procedures were not included. The result of pregnancy was obtained by consulting patient electronic records, medical records, and/or telephone call. RESULTS 713 procedures were performed (113 CVS, 340 amniocenteses, and 260 cordocenteses). The main indication for performing invasive procedures was the presence of structural changes in fetuses, followed by increased values of nuchal translucency, and advanced maternal age. Fetal karyotype was altered in 186 cases (26.1%). The 18 trisomy was the commonest aneuploidy followed by the 21 trisomy, X monosomy, and 13 trisomy. There were 4.9% cases of miscarriage, 25.7% cases of stillborn infants, and 13% cases of neonatal deaths. Eight pregnant women opted for legally induced abortion. 99% of pregnant women whose fetuses did not present abnormalities and presented normal fetal karyotype had infants who were born alive.Summary Objective: To characterize the indications of pregnant women who sought the Fetal Medicine Services of the Hospital das Clinicas, at the Medical School of the Universidade de Sao Paulo for performing invasive diagnostic procedures, and to evaluate the results of fetal karyotypes and their pregnancies. Methods: A retrospective and observational study on pregnant women who underwent chorionic villus sampling (CVS), amniocentesis, and cordocentesis in the period from February, 2005 to December, 2009. Other diagnostic or therapeutic procedures were not included. The result of pregnancy was ob tained by consulting patient electronic records, medical records, and/or telephone call. Results: 713 procedures were performed (113 CVS, 340 amniocenteses, and 260 cordocenteses). The main indication for performing invasive procedures was the presence of structural changes in fetuses, followed by increased values of nuchal translucency, and advanced maternal age. Fetal karyotype was altered in 186 cases (26.1%). The18 trisomy was the commonest aneuploidy followed by the 21 trisomy, X monosomy, and 13 trisomy. There were 4.9% cases of miscarriage, 25.7% cases of stillborn infants, and 13% cases of neonatal deaths. Eight pregnant women opted for legally induced abortion. 99% of pregnant women whose fetuses did not present abnormalities and presented normal fetal karyotype had infants who were born alive.