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Placental mesenchymal dysplasia (PMD) is a rare placental abnormality. We report a case of PMD associated with intrauterine growth restriction (IUGR), which was diagnosed by an ultrasound scan during the second trimester of pregnancy. A 36-year-old primiparous woman with signs of placental chorioangioma was referred to our hospital at the 23th gestational week. An ultrasonography revealed a small-for-gestational-age fetus with a large multicystic placenta. A serial Doppler sonographic assessment of umbilical and uterine artery blood flow showed a compromised fetus. A female, small-for-gestational-age baby was delivered by c-section at 28 weeks, and PMD was histopathologically confirmed.

Placental mesenchymal dysplasia (PMD) is a rare placental abnormality. We report a case of PMD associated with intrauterine growth restriction (IUGR), which was diagnosed by an ultrasound scan during the second trimester of pregnancy. A 36-year-old primiparous woman with signs of placental chorioangioma was referred to our hospital at the 23th gestational week. An ultrasonography revealed a small-for-gestational-age fetus with a large multicystic placenta. A serial Doppler sonographic assessment of umbilical and uterine artery blood flow showed a compromised fetus. A female, small-for-gestational-age baby was delivered by c-section at 28 weeks, and PMD was histopathologically confirmed.

Abstract Background Determining anthropometric measures that indicate different fat deposits can be useful to predict metabolic risk and set specific treatment goals, reducing negative consequences for maternal and fetal health. In cases where pre-gestational weight measure and subsequent body mass index (BMI) values cannot be determined, other anthropometric measurements may be ideal for measuring the nutritional status of pregnant women, especially in low- and middle-income countries. This study aims to identify which anthropometric measurements correlate better with the maternal fat deposits measured by ultrasound. Methods A cross-sectional study was conducted with pregnant women from the city of Porto Alegre (city), capital of Rio Grande do Sul (state), southern Brazil, from October 2016 until January 2018. Anthropometrical variables (weight, height, mid-upper arm circumference [MUAC], circumferences of calf and neck and triceps skinfolds [TSF] and subscapular skinfolds [SBSF]), and ultrasound variables (visceral adipose tissue [VAT] and total adipose tissue [TAT]) were collected. To verify the correlation of anthropometric and ultrasound measurements, a non-adjusted and adjusted Spearman correlation was used. The study was approved by the ethics committees. Results The age median of the 149 pregnant women was 25 years [21–31], pre-pregnancy BMI was 26.22 kg/m² [22.16–31.21] and gestational age was 16.2 weeks [13.05–18.10]. The best measurements correlated with VAT and TAT were MUAC and SBSF, both of which showed a higher correlation than pre-pregnancy BMI. Conclusions It is possible to provide a practical and reliable estimate of VAT and TAT from the anthropometric evaluation (MUAC or SBSF) that is low cost, efficient and replicable in an outpatient clinic environment, especially in low- and middle-income countries.

Abstract Objective To describe a population of pregnant women diagnosed with toxoplasmosis and their respective newborns, describing the hospital protocol for treatment and follow-up. Methods Retrospective cohort of pregnant women with acute toxoplasmosis infection and risk of transplacental transmission who were sent to the Fetal Medicine Group of Hospital de Clínicas de Porto Alegre (HCPA) between - January 1, 2006 and December 31, 2016. All patients with confirmed disease were included. The diagnostic protocol and treatment were applied; a polymerase chain reaction (PCR) analysis of the amniotic fluid was used to diagnose toxoplasmosis and determine the treatment. The newborns were followed up at the pediatric outpatient clinic specializing in congenital infection. The patients who were not followed up or were not born in the HCPA were excluded. Results A total of 65 patients were confirmed to have gestational toxoplasmosis; 40 performed amniocentesis, and 6 (15%) were identified as having positive PCR in the amniotic fluid. In five of those cases, this result associated with the gestational age defined the triple therapy during pregnancy, and in one case, it defined the monotherapy (advanced gestational age). A total of 4 of these newborns were treated from birth with triple therapy for 10months, 1 was not treated (due to maternal refusal), and 1 progressed to death within the first 54 hours of life due to complications of congenital toxoplasmosis. Of the 34 remaining cases with a negative PCR, 33 were treated with monotherapy and 1 was treated with triple therapy (ultrasound findings); of these children, 9 (26.5%) presented negative immunoglobulin G (IgG), 24 (70.6%) presented positive IgG (but none presented positive immunoglobulin M [IgM]), and 1 (2,9%) presented alterations compatible with congenital disease and started treatment with the triple therapy soon after birth. Out of the total sample of 60 patients, among the 25 who did not perform amniotic fluid PCR, 5 were treated with triple therapy (ultrasound findings/prior treatment) and 20 patients were submitted to monotherapy; only two newborns underwent treatment for congenital toxoplasmosis. Among the 65 cases of gestational toxoplasmosis, 6 (9,2%) children had a diagnosis of congenital toxoplasmosis, and 2 patients with triple therapy felt severe adverse effects of the medications. Conclusions The present study suggests that research on PCR screening of the amniotic fluid may be useful to identify patients with a higher potential for fetal complications, who may benefit from the poly-antimicrobial treatment. Patients with negative PCR results must continue to prevent fetal infection with monotherapy, without risk of fetal or maternal impairment.

BACKGROUND:Gestational diabetes mellitus (GDM) is a common condition, often associated with high maternal and fetal morbidity. The use of new tools for early GDM screening can contribute to metabolic control to reduce maternal and fetal risk. This study aimed to ascertain whether maternal visceral adipose tissue (VAT) measurement by ultrasound during the first half of pregnancy can predict the occurrence of GDM during the third trimester. METHODS:A prospective cohort study of 133 pregnant women with gestational age ≤20 weeks in an outpatient setting. VAT depth was measured by ultrasound at the maternal periumbilical region. GDM status was obtained through hospital charts during hospitalization to delivery. A Receiver Operator Characteristic (ROC) curve was used to determine the optimum threshold to predict GDM. RESULTS:According to the ROC curve, a 45mm threshold was identified as the best cut-off value, with 66% of accuracy to predict GDM. Crude and adjusted odds ratios (OR) for GDM were 13.4 (95%CI 2.9-61.1) and 8.9 (95%CI 1.9-42.2), respectively. A similar result was obtained among pre-gravid non-obese women, with crude and adjusted OR of 16.6 (95%CI 1.9-142.6) and 14.4 (95%CI 1.7-125.7), respectively. Among pre-gravid obese patients, a 45mm threshold did not reach statistical significance to predict GDM. CONCLUSION:The high and significant OR found before and after adjustments provides additional evidence of a strong association between VAT and GDM. It appears that VAT measurement during the first half of pregnancy has great potential in identifying non-obese women at high risk for GDM. This evidence can assist obstetricians in correctly allocating resources among populations of pregnant women at risk, determined not only by pre-gravid body mass index (BMI).

OBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomias dos cromossomos 13, 18 e 21 que foram diagnosticados pelo cariótipo fetal obtido por amniocentese/cordocentese, entre outubro de 1994 e maio de 2014, em um Hospital de Ensino da região Sul do Brasil. Foram descritas as malformações identificadas no exame ultrassonográfico morfológico e, posteriormente, confirmadas em exames do recém-nascido e/ou por necropsia fetal. Os resultados foram analisados por meio do teste de Fisher e da análise de variância (ANOVA). O nível de significância empregado foi 5% (p=0,05). RESULTADOS: Em 840 exames realizados, foram diagnosticados 69 casos de trissomias; nove deles foram excluídos por desfecho ocorrido fora do Hospital de Clínicas de Porto Alegre ou prontuário incompleto, restando 60 casos (nove de trissomia do cromossomo 13, 26 do cromossomo 18 e 25 do cromossomo 21). As cardiopatias ocorreram, na maioria dos casos, nos três grupos; a comunicação interventricular foi mais prevalente, em 66,7% do grupo da trissomia 13. As anomalias gastrintestinais aconteceram mais no grupo da trissomia 18, principalmente a onfalocele (38,5%; p

OBJETIVO: Analisar a taxa de mortalidade perinatal dos casos de gastrosquise e os possíveis fatores associados. MÉTODOS: Foi realizado estudo de coorte retrospectivo entre 1992 e 2012. Foram incluídos todos os casos de gastrosquise nascidos no Hospital de Clínicas de Porto Alegre (HCPA) naquele período. O diagnóstico de gastrosquise foi obtido por meio do exame ultrassonográfico morfológico ou pelo exame clínico ao nascimento nos casos desconhecidos no pré-natal. As variáveis de nascimento (peso ao nascer, idade gestacional e escore de Apgar, modo de parto, tipo de gastrosquise e anomalias associadas) e cirúrgicas (tipo de fechamento cirúrgico, reintervenção e sepse) foram comparadas entre os casos sobreviventes e os óbitos. Os resultados desta comparação foram analisados de acordo com o tipo de variável por meio de testes paramétricos e não paramétricos (Mann-Whitney ou teste t de Student, χ² ou teste exato de Fisher) sendo considerado o nível de significância de 5% (p=0,05). RESULTADOS: Foram incluídos 64 recém-nascidos com gastrosquise, 59 deles (92,2%) diagnosticados durante o pré-natal. Vinte e seis casos (40,6%) tinham somente intestino exposto, classificados como gastrosquise simples, 22 tinham intestino e estômago (34,4%) e 16 tinham intestino e outros órgãos (25%), totalizando 38 casos de gastrosquise complexa. O reparo cirúrgico primário foi realizado em 44 casos (68,8%). A mortalidade foi de 23,4% (15 mortes). Os casos de óbito tinham peso ao nascer (p=0,001), escore de Apgar (p=0,03) e idade gestacional (p=0,03) significativamente menores que os sobreviventes. Não houve diferença no modo de parto (p=0,8) e, com relação ao conteúdo eviscerado, não houve diferença entre os casos de gastrosquise simples e complexa (p=0,06). A mortalidade foi significativamente mais elevada entre os casos que necessitaram de reintervenção (p=0,001) e com sepse (p=0,008). CONCLUSÃO: A mortalidade perinatal da gastrosquise parece depender principalmente da prematuridade, baixo peso e complicações cirúrgicas.

OBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados entre março de 1992 e dezembro de 2011. Os casos tiveram confirmação diagnóstica pela presença de edema de subcutâneo fetal (≥5 mm) com derrame em pelo menos uma cavidade serosa por meio da ultrassonografia obstétrica, e a investigação etiológica foi realizada com pesquisa citogenética (cariótipo), infecciosa (sífilis, parvovírus B19, toxoplasmose, rubéola, citomegalovírus, adenovírus e herpes simples), hematológica e metabólica (erros inatos), além de com ecocardiografia fetal. Foram excluídas as gestações gemelares. A análise estatística foi efetuada pelo teste do χ² para aderência (software R 2.11.1). RESULTADOS: Foram incluídas 116 pacientes com hidropisia fetal não imune, sendo que 91 casos (78,5%) tiveram a etiologia elucidada e 25 casos (21,5%) foram classificados como causa idiopática. A etiologia cromossômica foi a que apresentou maior número de casos, totalizando 26 (22,4%), seguida da etiologia linfática com 15 casos (12,9%, sendo 11 casos de higroma cístico), da etiologia cardiovascular e da infecciosa com 14 casos cada (12,1%). Os demais casos tiveram etiologia torácica em 6,9% (oito casos), síndromes malformativas em 4,3% (cinco casos), tumores extratorácicos em 3,4% (quatro casos), metabólica em 1,7% (dois casos), hematológica, gastrintestinal e geniturinária em 0,9% cada (um caso cada). No período pós-natal, foram seguidos 104 casos por até 40 dias de vida, 12 casos tiveram morte fetal intrauterina. A sobrevida desses 104 recém-nascidos foi de 23,1% (24 sobreviveram). CONCLUSÃO: a etiologia da hidropisia diagnosticada na gestação deve tentar ser esclarecida, uma vez que está associada a um amplo espectro de doenças. É especialmente importante para determinar se uma condição potencialmente tratável está presente e para identificar doenças com risco de recorrência em futuras gestações para aconselhamento pré-concepcional adequado.PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.

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 -33.55 - 90.40) and 71% died in the first 24 hours of life. The rate of live births for T18 was 37% and the median survival was two days (95% CI -1.89 - 13.17); 90% of the affected babies died within first week of life. For the affected babies reaching the first year of life and for those who lived longer, multiple invasive and expensive procedures were required, without success in prolonging life beyond 180 days. This large series provides information for professionals and women regarding the natural histories of T13 and T18. Results of this study are consistent with those referenced in the literature, emphasizing the need of structured protocols and guidelines aiming early T13 and T18 diagnosis, prenatal care, gestation/parents follow-up, and counseling processes. For those couples with earlier diagnosis, a better follow-up and counseling during the prenatal care lead to the option for a support or palliative management of the newborn. Finally, when the counseling process is appropriate, it becomes easier to take decisions respecting the parent’s autonomy and to look for better outcomes for both, the mother and the fetus.