Comparison of terbutaline and atosiban as tocolytic agents in intrauterine repair of myelomeningocele: a retrospective cohort study.

BACKGROUND: Myelomeningocele (MMC) is a neural tube defect disease. Antenatal repair of fetal MMC is an alternative to postnatal repair. Many agents can be used as tocolytics during the in utero fetal repair such as ß2-agonists and oxytocin receptor antagonists, with possible maternal and fetal repercussions. This study aims to compare maternal arterial blood gas analysis between terbutaline or atosiban, as tocolytic agents, during intrauterine MMC repair. METHODS: Retrospective cohort study. Patients were divided into two groups depending on the main tocolytic agent used during intrauterine MMC repair: atosiban (16) or terbutaline (9). Maternal arterial blood gas samples were analyzed on three moments: post induction (baseline, before the start of tocolysis), before extubation, and two hours after the end of the surgery. RESULTS: Twenty-five patients were included and assessed. Before extubation, the terbutaline group showed lower arterial pH (7.347 ± 0.05 vs. 7.396 ± 0.02 for atosiban, p = 0.006) and higher arterial lactate (28.33 ± 12.76 mg.dL-1 vs. 13.06 ± 6.35 mg.dL-1, for atosiban, p = 0.001) levels. CONCLUSIONS: Patients who received terbutaline had more acidosis and higher levels of lactate, compared to those who received atosiban, during intrauterine fetal MMC repair.

Risk factors for shunting at 12 months following open fetal repair of spina bifida by mini-hysterotomy.

OBJECTIVES: Open spina bifida (OSB) is the most common neural tube defect. Prenatal repair reduces the need for ventriculoperitoneal shunting (VPS) due to hydrocephalus from 80-90% to 40-50%. We aimed to determine which variables work as risk factors for VPS at 12 months of age in our population. METHODS: Thirty-nine patients underwent prenatal repair of OSB by mini-hysterotomy. The main outcome was occurrence of VPS in the first 12 months of life. Logistic regression was used to estimate the odds ratios (OR) between prenatal variables and the need for shunting. RESULTS: VPS at 12 months occurred in 34.2% of the children. Larger ventricle size before surgery (62.5% ≥15 mm; 46.2% between 12 and 15 mm; 11.8% <12 mm; p=0.008), higher lesion level (80% >L2, vs. 17.9% ≤L3; p=0.002; OR, 18.4 [2.96-114.30]), and later gestational age at surgery (25.25 ± 1.18 vs. 24.37 ± 1.06 weeks; p=0.036; OR, 2.23 [1.05-4.74]) were related to increased need for shunting. In the multivariate analysis, larger ventricle size before surgery (≥15 mm vs. <12 mm; p=0.046; OR, 1.35 [1.01-1.82]) and higher lesion level (>L2 vs. ≤L3; p=0.004; OR, 39.52 [3.25-480.69]) were risk factors for shunting. CONCLUSIONS: Larger ventricle size before surgery (≥15 mm) and higher lesion level (>L2) are independent risk factors for VPS at 12 months of age in fetuses undergoing prenatal repair of OSB by mini-hysterotomy in the studied population.

Open fetal myelomeningocele repair at a university hospital: surgery and pregnancy outcomes.

PURPOSE: Myelomeningocele (MMC) is an open neural tube defect that causes great morbidity. Prenatal open repair is the standard treatment; however, there are many complications related to the procedure. This study reports preliminary findings of open in utero repair of MMC in a public tertiary hospital in Brazil and describes factors that could be associated with increased surgical morbidity. METHODS: Thirty-nine patients underwent open in utero repair of MMC from October 2015 to August 2019. The Clavien-Dindo classification of surgical complications and a classification system with the preterm definitions of the World Health Organization were used, respectively, for maternal and fetal complications. RESULTS: A total of 28 mothers (71.8%) and 31 fetuses (79.5%) experienced at least one minor to major complication. Three mothers (7.7%) had a severe grade 4 complication. Fetal complications grades 3 to 5 occurred in 13 fetuses (33.3%). Gestational age at surgery and at birth were 24.88 ± 1.16 weeks and 33.23 ± 3.68 weeks, respectively. Preterm delivery occurred in 30 patients (76.9%), membrane rupture in 18 patients (46.2%) and chorioamnionitis in 13 patients (33.3%). CONCLUSION: Open fetal surgery for MMC was performed at a Brazilian public tertiary care center, resulting in three grade 4 maternal complications. Relevant fetal complications were also present. The use of a standard classification system for complications renders studies more comparable and data more useful for counseling patients. Adjustments of perioperative procedures and long-term follow-up are needed to determine the real benefit of open in utero repair of MMC at our hospital.

First-year profile of biomarkers for early detection of renal injury in infants with congenital urinary tract obstruction.

BACKGROUND: Diagnosis of renal function impairment and deterioration in congenital urinary tract obstruction (UTO) continues to be extremely challenging. Use of renal biomarkers in this setting may favor early renal injury detection, allowing for a reliable choice of optimal therapeutic options and prevention or minimization of definitive renal damage. METHODS: This longitudinal, prospective study analyzed the first-year profile of two serum renal biomarkers: creatinine (sCr) and cystatin C (sCyC); and six urinary renal biomarkers: neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), transforming growth factor beta-1 (TGF-ß1), retinol-binding protein (RBP), cystatin C (uCyC), and microalbuminuria (µALB) in a cohort of 37 infants with UTO divided into three subgroups: 14/37 with unilateral hydro(uretero)nephrosis, 13/37 with bilateral hydro(uretero)nephrosis, and 10/37 patients with lower urinary tract obstruction (LUTO), compared with 24 healthy infants matched by gestational age and birth weight. RESULTS: All urine biomarkers showed significantly higher values at the first month of life (p ≤ 0.009), while NGAL (p = 0.005), TGF-ß1 (p < 0.001), and µALB (p < 0.001) were high since birth compared to controls. Best single biomarker performances were RBP in bilateral hydronephrosis and LUTO subgroups and KIM-1 in unilateral hydronephrosis subgroup. Best biomarker combination results for all subgroups were obtained by matching RBP with TGF-ß1 or KIM-1 and NGAL with CyC ([AUC] ≤ 0.934; sensitivity ≤ 92.4%; specificity ≤ 92.8%). CONCLUSIONS: RBP, NGAL, KIM-1, TGF-ß1, and CyC, alone and especially in combination, are relatively efficient in identifying surgically amenable congenital UTO and could be of practical use in indicating on-time surgery.

Prenatal natural history of isolated fetal mild bilateral pyelectasis.

OBJECTIVE: To analyze the prenatal outcomes in a cohort of fetuses with mild bilateral pyelectasis and determine whether performing serial ultrasounds is a good follow-up strategy. METHODS: A prospective longitudinal study was conducted on 62 fetuses with mild bilateral pyelectasis. Fetal mild bilateral pyelectasis was considered when the renal pelvis measured (in millimeters) ≥5.0 to 10.0, ≥7.0 to 10.0, and ≥10.0 to 15 at ≤23 weeks 6 days, 24 to 31 weeks 6 days, and ≥32 weeks, respectively, with no uretero-calyceal dilatation. Ultrasounds were performed every 3 weeks to assess whether the mild bilateral pyelectasis regressed, remained unchanged (Group 1) or progressed (Group 2). RESULTS: Group 1 consisted of 53 fetuses (85.4%), and progression was observed in 9 cases (Group 2, 14.6%). The initial renal pelvis diameter was significantly larger in fetuses with progression (p=0.028). Statistically significant differences in the renal pelvis diameter were also found at weeks 31 and 35 for both kidneys (p<0.05). The cases requiring intrauterine procedures or early delivery were not observed. CONCLUSION: Fetal mild bilateral pyelectasis with no calyceal dilatation is a benign condition that can be managed in the postnatal period. The initial renal pelvis diameter and the diameter in week 31 or 35 were valuable parameters for identifying cases that would eventually need specific postnatal procedures.

Prenatal natural history of isolated fetal mild bilateral pyelectasis

OBJECTIVE: To analyze the prenatal outcomes in a cohort of fetuses with mild bilateral pyelectasis and determine whether performing serial ultrasounds is a good follow-up strategy. METHODS: A prospective longitudinal study was conducted on 62 fetuses with mild bilateral pyelectasis. Fetal mild bilateral pyelectasis was considered when the renal pelvis measured (in millimeters) ≥5.0 to 10.0, ≥7.0 to 10.0, and ≥10.0 to 15 at ≤23 weeks 6 days, 24 to 31 weeks 6 days, and ≥32 weeks, respectively, with no uretero-calyceal dilatation. Ultrasounds were performed every 3 weeks to assess whether the mild bilateral pyelectasis regressed, remained unchanged (Group 1) or progressed (Group 2). RESULTS: Group 1 consisted of 53 fetuses (85.4%), and progression was observed in 9 cases (Group 2, 14.6%). The initial renal pelvis diameter was significantly larger in fetuses with progression (p=0.028). Statistically significant differences in the renal pelvis diameter were also found at weeks 31 and 35 for both kidneys (p<0.05). The cases requiring intrauterine procedures or early delivery were not observed. CONCLUSION: Fetal mild bilateral pyelectasis with no calyceal dilatation is a benign condition that can be managed in the postnatal period. The initial renal pelvis diameter and the diameter in week 31 or 35 were valuable parameters for identifying cases that would eventually need specific postnatal procedures.

Comparison of Two- and Three-dimensional Ultrasonography in the Evaluation of Lesion Level in Fetuses with Spina Bifida.

PURPOSE: To evaluate the precision of both two- and three-dimensional ultrasonography in determining vertebral lesion level (the first open vertebra) in patients with spina bifida. METHODS: This was a prospective longitudinal study comprising of fetuses with open spina bifida who were treated in the fetal medicine division of the department of obstetrics of Hospital das Clínicas of the Universidade de São Paulo between 2004 and 2013. Vertebral lesion level was established by using both two- and three-dimensional ultrasonography in 50 fetuses (two examiners in each method). The lesion level in the neonatal period was established by radiological assessment of the spine. All pregnancies were followed in our hospital prenatally, and delivery was scheduled to allow immediate postnatal surgical correction. RESULTS: Two-dimensional sonography precisely estimated the spina bifida level in 53% of the cases. The estimate error was within one vertebra in 80% of the cases, in up to two vertebrae in 89%, and in up to three vertebrae in 100%, showing a good interobserver agreement. Three-dimensional ultrasonography precisely estimated the lesion level in 50% of the cases. The estimate error was within one vertebra in 82% of the cases, in up to two vertebrae in 90%, and in up to three vertebrae in 100%, also showing good interobserver agreement. Whenever an estimate error was observed, both two- and three-dimensional ultrasonography scans tended to underestimate the true lesion level (55.3% and 62% of the cases, respectively). CONCLUSIONS: No relevant difference in diagnostic performance was observed between the two- and three-dimensional ultrasonography. The use of three-dimensional ultrasonography showed no additional benefit in diagnosing the lesion level in the fetuses with spina bifida. Errors in both methods showed a tendency to underestimate lesion level.

Comparison of Two- and Three-dimensional Ultrasonography in the Evaluation of Lesion Level in Fetuses with Spina Bifida / Comparação entre a ultrassonografia bidimensional e a ultrassonografia tridimensional na avaliação do nível da lesão nos fetos com espinha bífida

Purpose To evaluate the precision of both two- and three-dimensional ultrasonography in determining vertebral lesion level (the first open vertebra) in patients with spina bifida. Methods This was a prospective longitudinal study comprising of fetuses with open spina bifida who were treated in the fetal medicine division of the department of obstetrics of Hospital das Clínicas of the Universidade de São Paulo between 2004 and 2013. Vertebral lesion level was established by using both two- and three-dimensional ultrasonography in 50 fetuses (two examiners in each method). The lesion level in the neonatal period was established by radiological assessment of the spine. All pregnancies were followed in our hospital prenatally, and delivery was scheduled to allow immediate postnatal surgical correction. Results Two-dimensional sonography precisely estimated the spina bifida level in 53% of the cases. The estimate error was within one vertebra in 80% of the cases, in up to two vertebrae in 89%, and in up to three vertebrae in 100%, showing a good interobserver agreement. Three-dimensional ultrasonography precisely estimated the lesion level in 50% of the cases. The estimate error was within one vertebra in 82% of the cases, in up to two vertebrae in 90%, and in up to three vertebrae in 100%, also showing good interobserver agreement. Whenever an estimate error was observed, both two- and three-dimensional ultrasonography scans tended to underestimate the true lesion level (55.3% and 62% of the cases, respectively). Conclusions No relevant difference in diagnostic performance was observed between the two- and three-dimensional ultrasonography. The use of three-dimensional ultrasonography showed no additional benefit in diagnosing the lesion level in the fetuses with spina bifida. Errors in both methods showed a tendency to underestimate lesion level.

Objetivo Avaliar a precisão da ultrassonografia bidimensional e tridimensional para a determinação do nível da lesão vertebral em casos de fetos portadores de espinha bífida. Métodos Estudo prospectivo longitudinal, compreendendo fetos portadores de espinha bífida assistidos no setor de medicina fetal de hospital de ensino do Sudeste do Brasil, entre os anos de 2004 e 2013. Foram incluídos 50 fetos portadores de espinha bífida pela ultrassonografia bidimensional e tridimensional (dois examinadores em cadamétodo) comrelação ao nível da lesão. O nível exato da lesão foi verificado usando radiografia após o nascimento. Resultados A ultrassonografia bidimensional estimou corretamente o nível de espinha bífida em 53,0% dos casos. Em 80,0% dos casos a estimativa ocorreu com erro de uma vértebra; 89,0% em até duas vértebras e de 100,0% em até três vértebras. A ultrassonografia tridimensional estimou corretamente o nível de espinha bífida em 50,0% dos casos. Em 82,0% dos casos, a estimativa ocorreu com erro de uma vértebra; 90,0% em até duas vértebras e de 100,0% em até três vértebras. Nos casos em que houve erro na estimativa do nível da lesão, tanto na avaliação bidimensional quanto na tridimensional, observou-se tendência a subestimar o nível da lesão vertebral (55,3% na avaliação bidimensional e 62,0% na tridimensional), ou seja, colocando o nível ultrassonográfico mais baixo que o observado no pós-natal. Conclusões Não houve diferenças relevantes entre o desempenho diagnóstico da ultrassonografia bidimensional e tridimensional para determinação do nível da lesão vertebral nos casos de fetos portadores de espinha bífida. Tendência a subestimação do nível de lesão nos casos em que houve erro tanto na ultrassonografia bidimensional quanto na tridimensional.

Model-predicted performance of second-trimester Down syndrome screening with sonographic prenasal thickness.

OBJECTIVE: The purpose of this study was to estimate the Down syndrome detection and false-positive rates for second-trimester sonographic prenasal thickness (PT) measurement alone and in combination with other markers. METHODS: Multivariate log Gaussian modeling was performed using numerical integration. Parameters for the PT distribution, in multiples of the normal gestation-specific median (MoM), were derived from 105 Down syndrome and 1385 unaffected pregnancies scanned at 14 to 27 weeks. The data included a new series of 25 cases and 535 controls combined with 4 previously published series. The means were estimated by the median and the SDs by the 10th to 90th range divided by 2.563. Parameters for other markers were obtained from the literature. RESULTS: A log Gaussian model fitted the distribution of PT values well in Down syndrome and unaffected pregnancies. The distribution parameters were as follows: Down syndrome, mean, 1.334 MoM; log(10) SD, 0.0772; unaffected pregnancies, 0.995 and 0.0752, respectively. The model-predicted detection rates for 1%, 3%, and 5% false-positive rates for PT alone were 35%, 51%, and 60%, respectively. The addition of PT to a 4-serum marker protocol increased detection by 14% to 18% compared with serum alone. The simultaneous sonographic measurement of PT and nasal bone length increased detection by 19% to 26%, and with a third sonographic marker, nuchal skin fold, performance was comparable with first-trimester protocols. CONCLUSIONS: Second-trimester screening with sonographic PT and serum markers is predicted to have a high detection rate, and further sonographic markers could perform comparably with first-trimester screening protocols.

Fetal cystoscopy for severe lower urinary tract obstruction--initial experience of a single center.

OBJECTIVE: To report the experience with fetal cystoscopy and laser fulguration of posterior urethral values (PUV) for severe lower urinary tract obstruction (LUTO). METHODS: Between July 2006 and December 2008, fetal cystoscopy was offered to 23 patients whose fetuses presented with severe LUTO, favorable urinary analysis and gestational age <26 weeks. Fetal urinary biochemistry was evaluated before and after cystoscopy. All infants were followed 6-12 months after birth. Abnormal renal function was defined when serum creatinine higher than 50 micromol/L (2 Standard Deviation) or the necessity of dialysis or renal transplantation. Autopsy was always performed whenever fetal or neonatal deaths occurred. RESULTS: Eleven patients decided to undergo fetal therapy and 12 elected to continue with expectant observation. There was no difference between both groups in gestation age at diagnosis and referral examinations. Urethral atresia was diagnosed in 4/11 (36.4%) fetuses by fetal cystoscopy. At 26 weeks, fetuses that were managed expectantly presented with worse urinary biochemistry results (p < 0.05). Survival rates and percentage of infants with normal renal function were significantly higher in the cystoscopic group than in the expectant group (p < 0.05). CONCLUSIONS: Percutaneous fetal cystoscopy is feasible using a thinner special cannula for prenatal diagnosis and therapy of LUTO. Prenatal laser ablation of the PUV under cystoscopy may prevent renal function deterioration improving postnatal outcome.

Surgical treatment of myelomeningocele carried out at 'time zero' immediately after birth.

BACKGROUND/AIMS: To present a protocol of immediate surgical repair of myelomeningocele (MMC) after birth ('time zero') and compare this surgical outcome with the surgery performed after the newborn's admission to the nursery before the operation. METHODS: Data from the medical files of 31 patients with MMC that underwent surgery after birth and after admission at the nursery (group I) were compared with a group of 23 patients with MMC admitted and prospectively followed, who underwent surgery immediately after birth--'at time zero' (group II). RESULTS: The preoperative rupture of the MMC occurred more frequently in group I (67 vs. 39%, p < 0.05). The need for ventriculoperitoneal shunt was 84% in group I and 65% in group II and 4 of them were performed during the same anesthetic time as the immediate MMC repair, with no statistically significant difference. Group I had a higher incidence of small dehiscences when compared to group II (29 vs. 13%, p < 0.05); however, there was no statistically significant difference regarding infections. After 1 year of follow-up, 61% of group I showed neurodevelopmental delay, whereas only 35% of group II showed it. CONCLUSIONS: The surgical intervention carried out immediately after the birth showed benefits regarding a lower incidence of preoperative rupture of the MMC, postoperative dehiscences and lower incidence of neurodevelopmental delay 1 year after birth.

Avaliação ultra-sonográfica, ecocardiográfica fetal e resultados perinatais em gestantes portadoras do HIV em uso de terapia anti-retroviral / Ultrasound examination, fetal echocardiography and prenatal outcome in HIV-positive pregnant women under antiretroviral therapy

OBJETIVO: descrever as alterações estruturais e/ou funcionais fetais à ultra-sonografia e à ecocardiografia fetais e os resultados perinatais em gestantes soropositivas para o vírus da imunodeficiência humana (HIV) em relação a um grupo controle de pacientes atendidas pelo pré-natal de baixo risco. MÉTODOS: foram avaliadas, prospectivamente, 109 gestantes soropositivas para o HIV em uso de anti-retrovirais (Grupo de Estudo, GE) e 200 gestantes controles (GC), sendo realizado acompanhamento ultra-sonográfico obstétrico mensal e ecocardiografia fetal e pós-natal com a avaliação do volume de líquido amniótico, da adequação do peso fetal, da presença de alterações estruturais fetais e dos resultados perinatais. RESULTADOS: foram observados oito casos de alterações estruturais fetais (7,3 por cento) contra dois (1 por cento) no GC (p=0,61). Observamos quatro casos de cardiopatia congênita e quatro de hidronefrose no GE, com diferença estatística para as cardiopatias (p=0,015). Foram diagnosticados, no GE, oito (7,3 por cento) casos de oligoidrâmnio e 11 (10 por cento) casos de polidrâmnio contra dois casos (1 por cento) de oligoidrâminio e nenhum de polidrâmnio (p de 0,004 e p<0,001, respectivamente). Onze recém-nascidos (10 por cento) foram pequenos para a idade gestacional no GE contra três (2,7 por cento) no GC (p=0,002). A incidência de prematuridade foi de 8,7 e 2,5 por cento nos grupos de estudo e controle, respectivamente (p=0,041). A taxa de óbito fetal foi de 5,5 por cento (seis casos) no GE, contra nenhum no GC (p=0,002). CONCLUSÕES: observamos maior prevalência de cardiopatia fetal e de alterações da quantidade de líquido amniótico no grupo estudado em relação ao GC. A taxa de óbito fetal no GE provavelmente está vinculada à presença de malformações fetais; já a incidência de neonatos pequenos para a idade gestacional e de prematuridade, está associada à terapia anti-retroviral e ao uso do tabaco e de drogas ilícitas.

PURPOSE: to evaluate fetal structural and/or functional abnormalities by ultrasound examination and fetal echocardiography, in pregnant women positive for human immunodeficiency virus (HIV). METHODS: we analyzed prospectively 109 HIV positive pregnant women under antiretroviral therapy (Study Group) and 200 low risk pregnant patients (Control Group). All of them were submitted to ultrasound scan and fetal and neonatal echocardiography once a month. The amniotic fluid volume, fetal growth, fetal structural and functional alteration and the perinatal outcome were evaluated. RESULTS: there were eight (7.3 percent) cases of fetal structural abnormality in the Study Group and two (1 percent) in the Control Group (p=0.616). There were four cases of congenital heart disease and four cases of hydronephrosis in the Study Group, with statistic significance (p=0.015) for the cardiac abnormalities. There were eight cases (7.3 percent) of oligohydramnios and 11 cases (10 percent) of polyhydramnios in the Study Group against two cases (1 percent) of oligohydramnios and none of polyhydramnios in the Control Group (p=0.004 and p<0.001). Eleven (10 percent) newborn babies were too small for their gestation age in the Study Group, against three (2.7 percent) in the Control Group (p=0,002). The incidence of preterm delivery was 8.7 and 2.5 percent in the Study and Control Groups respectively (p=0.041). It was observed six cases (5.5 percent) of fetal death in the Study Group and none in the Control Group (p=0.002). CONCLUSIONS: in the present study, we have observed higher prevalence of amniotic fluid volume and congenital heart abnormalities in the Study Group as compared to the Control Group. Statistical significance was found in both situations. The high fetal death rate found in the Study Group was probably due to fetal malformation, whereas the high prematurity rate and the prevalence of small size for the gestational age of the newborn babies were...

Diagnóstico ultra-sonográfico e prognóstico neurológico em fetos com mielomeningocele / Sonographic diagnosis and neurological prognosis in myelomeningocele fetus

A mielomeningocele é uma doença cuja incidência se mantém constante na população apesar dos esforços em relação a sua prevenção. Em 1970 a mortalidade era próxima de 100 porcento, atualmente os avanços na medicina e a possibilidade de neurocirurgia precoce e de cirurgias urológicas para que as complicações renais sejam evitadas fizeram com que a mortalidade passasse a 12-20 porcento. O diagnóstico ultra-sonográfico antenatal da malformação é necessário e chega a 100 porcento em centros terciários; porém a definição precisa do nível da lesão ainda é um obstáculo para o aconselhamento do prognóstico. O prognóstico está diretamente relacionado com o nível da lesão e com a presença de ventriculomegalia. O coeficiente de inteligência para defeitos em níveis mais baixos é normal, bem como a capacidade para andar. Quanto à realização de cirurgia intra-útero, está em andamento um grande estudo multicêntrico que poderá dar mais respostas sobre a alteração no prognóstico destas crianças

Prenatal diagnosis and perinatal outcome of 38 cases with congenital diaphragmatic hernia: 8-year experience of a tertiary Brazilian center.

PURPOSE: To evaluate the perinatal results for neonates with congenital diaphragmatic hernia diagnosed prenatally. METHOD: We reviewed data from 38 cases of congenital diaphragmatic hernia diagnosed prenatally from January 1995 to December 2003 in the Fetal Medicine Unit of the Department of Obstetrics and Gynecology, São Paulo University Medical School. The main data analyzed were gestational age at diagnosis, fetal karyotyping, side of diaphragmatic defect, presence of associated structural malformations, hepatic herniation, and severe mediastinal shift. Perinatal outcomes were obtained by reviewing hospital documents or by directly calling the patients' immediate relatives. RESULTS: Mean gestational age at diagnosis was 29 weeks (range, 16-37 weeks). Thirty (79%) cases had a left diaphragmatic defect and 8 (21%) had a right lesion. Associated structural malformations were observed in 21 (55%) cases, in which 12 fetuses had a normal karyotype and 9 had chromosomal abnormalities. Isolated congenital diaphragmatic hernia was confirmed in 17 (45%) cases. The overall perinatal mortality rate was 92%. Rates of fetal deaths, early neonatal deaths, late neonatal deaths, and survival were 42%, 50%, 0%, and 8%, respectively, in cases with associated structural malformations but normal karyotyping; 56%, 44%, 0%, and 0% for cases with chromosomal abnormalities; and, 0%, 76%, 12%, and 12% in cases with isolated congenital diaphragmatic hernia. The neonatal mortality rate was 89% in cases with isolated congenital diaphragmatic hernia. CONCLUSION: Perinatal mortality was very high in prenatally diagnosed cases of congenital diaphragmatic hernia. Earlier perinatal deaths are associated with the presence of other structural defects or chromosomal abnormalities. In cases of isolated congenital diaphragmatic hernia, mortality is related to the presence of herniated liver, right-sided lesion, and major mediastinal shift.

Prenatal diagnosis and perinatal outcome of 38 cases with congenital diaphragmatic hernia: 8-year experience of a tertiary Brazilian center

OBJETIVO: Avaliar os resultados neonatais dos casos de hérnia diafragmática congênita com diagnóstico pré-natal.PACIENTES E MÉTODOS: De janeiro de 1995 a dezembro de 2003 foram revisados os dados de 38 fetos com hérnia diafragmática diagnosticada durante o período pré-natal na Unidade de Medicina Fetal do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo. Os dados pré-natais analisados foram: idade gestacional no diagnóstico, cariótipo fetal, lado da lesão, presença de malformação estrutural associada, herniação hepática e desvio garve de mediastino. Os dados perinatais foram avaliados consultando os prontuários médicos ou por contato telefônico. RESULTADOS: A idade gestacional média no diagnóstico foi de 29 semanas (16-37). Trinta (79%) casos apresentavam lesão à esquerda e 8 (21%) à direita. Malformações estruturais associadas foram observadas em 21 (55%) casos, dos quais 12 fetos apresentaram cariótipo normal, enquanto 9 exibiram anomalias cromossômicas. Hérnia diafragmática isolada foi identificada em 17 (457%) casos. A taxa de mortalidade geral foi de 92%. A taxa de óbito fetal, neomorto precoce, neomorto tardio e sobrevivente após 28 dias de vida foram respectivamente: (i) para o grupo com malformação estrutural associada e cariótipo normal, de 42%, 50%, 0% e 8%; (ii) para os casos com cromossomopatia, de 56%, 44%, 0% e 0%; (iii) para os casos com lesões isoladas de 0%, 76%, 12% e 12%. Na hérnia diafragmática congênita isolada, a mortalidade neonatal foi de 88%. CONCLUSÃO: Em nosso serviço, a mortalidade perinatal nos casos de hérnia diafragmática diagnosticada durante o pré-natal é muito alta. Óbitos neonatais precoces estão associados com presença de outros defeitos estruturais ou anomalias cromossômicas. Nos casos de HDC isolada, a mortalidade está relacionada à presença de fígado herniado, lado direito da lesão e desvio grave de mediastino.

Evaluation of the agreement between 3-dimensional ultrasonography and magnetic resonance imaging for fetal lung volume measurement.

OBJECTIVE: The purpose of this study was to assess the agreement between 3-dimensional ultrasonography (3DUS) and magnetic resonance imaging (MRI) for lung volumetry in fetuses with and without abnormalities associated with lung hypoplasia. METHODS: Fifty-nine singleton pregnancies were evaluated. Cases were separated into groups 1 and 2, according to the presence or absence of malformations associated with lung hypoplasia, respectively. Fetal lung volume was calculated by the Virtual Organ Computer-Aided Analysis (VOCAL) program of the 3DUS and the MRI. In both groups, measurements performed with all VOCAL angles were compared among themselves and with those obtained by MRI. Bland-Altman tests and analysis of variance were used for this purpose. RESULTS: In groups 1 and 2, the mean lung volume obtained with each rotation angle of the VOCAL technique was significantly smaller than the mean volume calculated by MRI (P < .001), and the mean volume obtained with the 30 degrees rotation step was significantly smaller than those obtained with the other rotation steps of the VOCAL technique. Bland-Altman tests confirmed this underestimation and showed a broad 95% confidence interval when the VOCAL angles were compared with those of MRI and when the 30 degrees rotation step was compared with the other VOCAL steps. CONCLUSIONS: There was a substantial discrepancy between 3DUS and MRI and between the 30 degrees rotation step of the VOCAL technique and the other rotation angles, for lung volume measurement in fetuses with and without abnormalities associated with lung hypoplasia.

Unusual sonographic features of ARPKD.

The classic sonographic appearance of the kidneys in fetuses with autosomal recessive polycystic kidney disease (ARPKD) has been well described. We report a case of enlarged kidneys with pyramidal hyperechogenicity quite similar to medullary nephrocalcinosis found in a fetus at 34 weeks' gestation. At 39 weeks, a female neonate was delivered and died after 22 h due to pulmonary insufficiency secondary to severe oligohydramnios. On pathological analysis, the gross and microscopic findings were typical of ARPKD with diffuse dilatation of tubules throughout. The fetal renal lobulation was prominent and on section, the pyramids were delineated within each lobule, accounting for the clear image of the pyramids observed on sonography.

Fetal obstructive uropathy: is urine sampling useful for prenatal counselling?

OBJECTIVES: To evaluate whether fetal urinary sodium and chloride provide clinically useful information in addition to ultrasound in bilateral obstructive uropathy. METHODS: Sonographic features and urinary concentrations of sodium and chloride were evaluated in fetuses with bilateral obstructive uropathy. After a minimum of 12 months of postnatal follow-up, cases that developed increased serum creatinine (greater than 50 micromol/L) were compared with those that did not. RESULTS: Of the cases studied, 16/35 died perinatally, all showing anamnios and markedly elevated urinary electrolytes. Of the survivors, ten maintained normal postnatal serum creatinine, whereas nine did not. The frequency of reduced amniotic fluid/olygohydramnios was higher in cases that developed increased serum creatinine (four out of nine) than in those that did not (nil). Sodium above the 95th percentile was 100% specific and 44% sensitive to predict an increased serum creatinine during early infancy, while chloride above the 95th percentile was 70% specific and 56% sensitive. All seven cases in which urinary sodium was elevated and/or amniotic fluid volume was reduced developed renal failure. CONCLUSION: Urine sampling slightly improved renal function prediction, but this must be balanced against its fetal risks.

Rubella in pregnancy: intrauterine transmission and perinatal outcome during a Brazilian epidemic.

Sixty pregnant women with clinical signs of rubella and specific rubella antibodies were studied between January 1999 and December 2002 in order to determine the intrauterine rubella transmission rate and the presence of the virus in amniotic fluid and fetal tissues by nested PCR. Thirty-three patients presented rubella before 12 weeks of gestation and 27 after 12 weeks. Gestational age at the time of acute rubella was determined on the basis of the date of last menstruation and the first trimester ultrasound scan. Thirteen patients with clinical features of rubella before 12 weeks of gestation were submitted to amniocentesis. Three products of conception were analyzed. The presence of the rubella virus was determined by nested PCR. IgM and IgG antibodies were analyzed in neonatal samples at birth and at 3 months of age using a capture immunoassay. Newborn follow-up was based on the presence of congenital rubella syndrome-compatible defects, anti-rubella antibodies, echocardiographic alterations, brainstem evoked response audiometry, and ophthalmological pathology. Five miscarriages and four fetal deaths were observed in the group of patients presenting clinical features before 12 weeks of gestation. IgM antibodies were detected in seven neonates at birth and at 3 months of age. Deafness was observed in three cases and pigmentary retinopathy in one case. Fourteen of the 16 samples (13 amniotic fluid and 3 fetal tissue samples) submitted to virological analysis tested positive. Four fetal deaths, five miscarriages (one with negative virology) and seven newborns with anti-rubella IgM at birth and/or at 3 months age were observed in the group with rubella before 12 weeks of gestation. There were three cases in which virological analysis of the amniotic fluid samples was positive (infected) while the newborn showed no signs of congenital rubella syndrome and anti-rubella IgM were absent. When maternal rubella occurred after 12 weeks of gestation, no fetal or neonatal rubella signs were observed. Eradication of congenital rubella syndrome is possible since vaccination campaigns continue and all services related to the health care of children, adolescents and women have become aware of the significance of the problem and are collaborating. All pregnant women in Brazil should be screened for the rubella antibody and the susceptible group should be vaccinated after giving birth.

Determinação ultra-sonográfica do sexo fetal pela medida dos ângulos do apêndice genital / Sonographic determination of fetal gender by measurement of the angles of the genital tubercle

OBJETIVO: avaliar a acurácia da ultra-sonografia para predição do sexo fetal entre a 11ª e a 13ª semana e 6 dias por meio da medida dos ângulos anterior e posterior do apêndice genital. MÉTODOS: os ângulos anterior e posterior do apêndice genital foram medidos em corte sagital de 455 fetos entre a 11ª e a 13ª semana e 6 dias. A probabilidade de predição correta do sexo fetal (confirmado após o nascimento) foi categorizada de acordo com a medida dos ângulos, idade gestacional e comprimento crânio-caudal. Os pontos de corte de melhor acurácia para predizer o sexo fetal foram obtidos por meio de curva ROC. A variação interobservador foi avaliada pelo método de Bland-Altman. RESULTADOS: a taxa de predição correta do sexo fetal se elevou com a idade gestacional e comprimento crânio-nádegas. Utilizando o ponto de corte de 42 graus para o ângulo anterior (curva ROC), a predição correta do sexo fetal ocorreu em 72 por cento dos fetos da 11ª à 11ª semana e 6 dias, 86 por cento da 12ª à 12ª semana e 6 dias e 88 por cento da 13ª à 13ª semana e 6 dias. As taxas de predição obtidas com o ângulo posterior (ponto de corte de 24 graus) foram, respectivamente: 70, 87 e 87 por cento. A avaliação da variação interobservador revelou diferença média entre medidas pareadas de 15,7 e 9 graus para as medidas dos ângulos posterior e anterior, respectivamente. CONCLUSAO: a acurácia da medida dos ângulos do apêndice genital na predição do sexo fetal foi elevada a partir da 12ª semana de gestação mas ainda insuficiente para sua aplicação em gestações com risco de doenças graves ligadas ao cromossomo X.