Prolonged Zika Virus Viremia during Pregnancy Suy, Anna; Sulleiro, Elena; Rodó, Carlota ...
New England journal of medicine/The New England journal of medicine,
12/2016, Volume:
375, Issue:
26
Journal Article
OBJECTIVES
To evaluate the prevalence of DNA copy number variants (CNVs) detected with array comparative genomic hybridization (CGH) in fetuses with central nervous system (CNS) anomalies. Secondary ...objectives were to describe the prevalence of CNV in specific CNS abnormalities, in isolated defects or associated with other malformations or fetal growth restriction (FGR).
METHODS
Observational cohort study in 238 fetuses with CNS anomalies in which an array‐CGH had been performed between January 2009 and December 2017. Pathogenic CNV and variants of unknown significance (VUS) were reported.
RESULTS
Pathogenic CNVs were found in 16/238 cases (6.7%), VUS in 18/238 (7.6%), and normal result in 204/238 (85.7%) cases. Pathogenic CNVs were more frequent in posterior fossa anomalies (cerebellar hypoplasia 33%, megacisterna magna 20%), moderate ventriculomegaly (11%) and spina bifida (3.7%). Pathogenic CNVs and VUS were found in 7/182 (3.8%) and 14/182 (7.7%) cases of isolated anomalies, in 9/49 (18.4%) and 4/49 (8.2%) presenting another malformation, and in 0/7 and 0/7 cases with associated FGR (P = .001, P = .741, respectively).
CONCLUSION
These results provide strong evidence toward performing array in fetuses with CNS anomalies, particular in cases of posterior fossa anomalies. The prevalence of pathogenic CNVs is higher in association with other malformations.
Objectives: The main objective of this study was to evaluate the accuracy of prenatal ultrasound to diagnose corpus callosum alterations, compared to prenatal magnetic resonance imaging (MRI), ...postnatal image techniques (ultrasound and/or MRI), and post-mortem examination in terminated pregnancies.
Methods: Retrospective review of 86 cases of prenatal ultrasound diagnosis of corpus callosum anomalies between January 2007 and December 2015 at a third level Maternal Fetal Medicine center. The study reviewed the findings of prenatal ultrasound and MRI, post-mortem examination in cases of termination of pregnancy (TOP) or stillbirths and postnatal ultrasound, and MRI in neonates. The anomalies of corpus callosum (CC) were classified as complete agenesis of the corpus callosum (ACC), partial ACC, or dysgenesis of CC.
Results: Fifty-eight (67.4%) cases resulted in TOP, 26 (30.2%) cases opted to continue with the pregnancy and two (2.3%) cases were lost to follow up. Among the 26 cases that continued with the pregnancy, 24 (92.3%) were live births and two (7.7%) were stillborn. All cases in which a third trimester MRI was performed (n = 46) confirmed the prenatal ultrasound diagnosis of CC anomaly. In seven (15.2%) of them, the MRI found additional intracranial findings and in three cases (6.5%) the type of CC anomaly (complete, partial, or dysgenesis) was reclassified (Kappa index: 0.86, 95% CI: 0.71-1.00). CC anomalies were confirmed in 46 (95.8%) of the 48 cases in which a post-mortem examination was available, the type of anomaly being reclassified in three cases (6.3%) (Kappa index: 0.88, 95% CI: 0.75-1.00). Among the 10 cases in which a postnatal ultrasound was performed, the CC anomaly was confirmed in all and the type of anomaly was reclassified in 1 (10%) of them (Kappa index: 0.75, 95% CI: 0.32-1.00).
Conclusion: Corpus callosum agenesis can be detected on the routine mid-trimester ultrasound scan. Prenatal ultrasound and MRI can accurately classify the type of CC abnormality. Moreover, third trimester MRI can detect additional intracranial anomalies in 15% of cases.
Introduction
The primary aim of the study was to identify risk factors associated with fetal or neonatal loss, neonatal morbidity, and the need for surgery in fetuses diagnosed with an abdominal ...cyst. The secondary aim was to compare the characteristics of the cyst according to trimester at diagnosis.
Material and methods
This was an observational retrospective study performed at Vall d'Hebron University Hospital. The study included pregnant women aged 18 years or older with diagnosis of a fetal abdominal cyst from 2008 to 2021.
Results
A total of 82 women with a median gestational age of 31+1 weeks (12+0–39+4) were included in the analysis. Seven (8.5%) cases were diagnosed in the first trimester, 28 (34.1%) in the second trimester, and 47 (57.3%) in the third trimester. Fetal or neonatal loss occurred in 10 (12.2%) cases; significant predictors were diagnosis in the first trimester (OR 36.67, 95% CI: 4.89–274.79), male gender (OR 4.75, 95% CI: 1.13–19.9), and associated abnormalities (OR 15.2, 95% CI: 2.92–79.19). A total of 10 of 75 (13.3%) neonates showed at least one neonatal complication, and the only predictor was occurrence of associated abnormalities (OR 7.36, 95% CI: 1.78–30.51). A total of 16 of 75 (21.3%) neonates required postnatal surgery, and the predictors were second‐trimester diagnosis (OR 3.92, 95% CI: 1.23–12.51), associated abnormalities (OR 3.81, 95% CI: 1.15–12.64), and bowel location (OR 10.0, 95% CI: 1.48–67.55).
Conclusions
Factors associated with adverse outcomes in fetuses diagnosed with abdominal cysts are first‐trimester diagnosis and associated abnormalities. Cysts detected in the second trimester and those of intestinal origin are more likely to require surgery.
Factors associated with adverse outcomes in fetuses diagnosed with abdominal cysts are first‐trimester diagnosis and associated abnormalities. Cysts detected in the second trimester and those of intestinal origin are more likely to require surgery.
To date, no intervention has proved effective in reducing the spontaneous preterm birth rate in singleton pregnancies following an episode of threatened preterm labor and short cervix remaining.
This ...study was designed to ascertain whether cervical pessaries could be useful in preventing spontaneous preterm birth in women with singleton pregnancies and a short cervix after a threatened preterm labor episode.
This open randomized controlled trial was conducted in 357 pregnant women (between 240–336 weeks) who had not delivered 48 hours after a threatened preterm labor episode and had a short cervix remaining (≤25 mm at 240–296 weeks; ≤15 mm at 300–336 weeks). Patients were randomly assigned to cervical pessary (179) or routine management (178). The primary outcome was the spontaneous preterm birth rate <34 weeks. Spontaneous preterm birth <28 and 37 weeks and neonatal morbidity and mortality were also evaluated in an intention-to-treat analysis.
No significant differences between the pessary and routine management groups were observed in the spontaneous preterm birth rate <34 weeks (19/177 10.7% in the pessary group vs 24/175 13.7% in the control group; relative risk, 0.78; 95% confidence interval, 0.45–1.38). Spontaneous preterm birth <37 weeks occurred less frequently in the pessary group (26/175 14.7% vs 44/175 25.1%; relative risk, 0.58; 95% confidence interval, 0.38–0.90; P = .01). Preterm premature rupture of membranes rate was significantly lower in pessary carriers (4/177 2.3% vs 14/175 8.0%; relative risk, 0.28; 95% confidence interval, 0.09–0.84; P = .01). The pessary group less frequently required readmission for new threatened preterm labor episodes (8/177 4.5% vs 35/175 20.0%; relative risk, 0.23; 95% confidence interval, 0.11–0.47; P < .0001). No serious adverse maternal events occurred; neonatal morbidity and mortality were similar in both groups.
Pessary use did not significantly lower the spontaneous preterm birth rate <34 weeks in women with a short cervix remaining after a threatened preterm labor episode but did significantly reduce the spontaneous preterm birth rate <37 weeks, threatened preterm labor recurrence, and the preterm premature rupture of membranes rate.
No intervention has proved effective to date in reducing the spontaneous preterm birth rate in twin pregnancies following an episode of threatened preterm labor and with a short cervix remaining. ...This study was designed to ascertain whether cervical pessaries are useful in preventing spontaneous preterm birth in women with twin pregnancies and a short cervix remaining after a threatened preterm labor episode.
This open, randomized, controlled trial was conducted in 132 pregnant women who had not delivered 48 hours after a threatened preterm labor episode and had a short cervix remaining (≤20 mm between 240 and 296 weeks and ≤10 mm between 300 and 336 weeks). Patients were randomly assigned to cervical pessary (n = 67) or routine management (n = 65). The primary outcome was the spontaneous preterm birth rate before 34 weeks. Spontaneous preterm birth before 28 and 37 weeks and neonatal morbidity and mortality were also evaluated in an intention-to-treat analysis.
Significant differences were observed in the spontaneous preterm birth rate before 34 weeks between the pessary and routine management groups (11 of 67 16.4% in the pessary group vs 21 of 65 32.3% in the control group; relative risk, 0.51 confidence interval, 0.27-0.97; P = .03). No significant differences were observed in the preterm birth rate < 28 weeks or < 37 weeks between groups. The pessary group less frequently required readmission for new threatened preterm labor episodes (4 of 67 5.6% vs 14 of 65 21.5%; relative risk, 0.28 confidence interval, 0.10–0.80; P = .009). Significant reduction was observed in the number of neonates weighing less than 2500 g (17.9% 24 of 134 vs 70.8% 92 of 130; relative risk, 0.25 confidence interval, 0.15–0.43; P < .0001).
Pessary use did significantly lower the spontaneous preterm birth rate before 34 weeks in twin pregnancies with maternal short cervix remaining after a threatened preterm labor episode. Pessary use also reduced the threatened preterm labor recurrence and neonates’ weight less than 2500 g.
Introduction
Nowadays, proinflammatory factors are considered to play an important role in the pathophysiology of threatened preterm labor or chorioamnionitis. The aim of this study was to establish ...the normal reference range for interleukin‐6 (IL‐6) levels in the amniotic fluid and to identify factors which may alter this value.
Material and methods
Prospective study in a tertiary‐level center including asymptomatic pregnant women undergoing amniocentesis for genetic studies from October 2016 to September 2019. IL‐6 measurements in amniotic fluid were performed using a fluorescence immunoassay with microfluidic technology (ELLA Proteinsimple, Bio Techne). Maternal history and pregnancy data were also recorded.
Results
This study included 140 pregnant women. Of those, women who underwent termination of pregnancy were excluded. Therefore, a total of 98 pregnancies were included in the final statistical analysis. The mean gestational age was 21.86 weeks (range: 15–38.7) at the time of amniocentesis, and 38.6 weeks (range: 30.9–41.4) at delivery. No cases of chorioamnionitis were reported. The log10 IL‐6 values follow a normal distribution (W = 0.990, p = 0.692).
The median, and the 5th, 10th, 90th, and 95th percentiles for IL‐6 levels were 573, 105, 130, 1645, and 2260 pg/mL, respectively. The log10 IL‐6 values were not affected by gestational age (p = 0.395), maternal age (p = 0.376), body mass index (p = 0.551), ethnicity (p = 0.467), smoking status (p = 0.933), parity (p = 0.557), method of conception (p = 0.322), or diabetes mellitus (p = 0.381).
Conclusions
The log10 IL‐6 values follow a normal distribution. IL‐6 values are independent of gestational age, maternal age, body mass index, ethnicity, smoking status, parity and method of conception. Our study provides a normal reference range for IL‐6 levels in the amniotic fluid that can be used in future studies. We also observed that normal IL‐6 values were higher in the amniotic fluid than in serum.
Interleukin‐6 is a cytokine that has been linked to the pathophysiology of preterm labor and chorioamnionitis. This study provides a normal reference range for IL‐6 levels in the amniotic fluid that can be used in future studies. This study also evaluates maternal and fetal factors that may potentially have an impact on IL‐6 values.
To assess the longitudinal behavior of Quantitative Lung Index (QLI) for the follow-up of fetuses with congenital diaphragmatic hernia.
Retrospective study of fetuses with isolated left congenital ...diaphragmatic hernia. The fetuses were assessed by ultrasound at different gestational ages and QLI was retrospectively calculated by means of previous lung-to-head ratio measurements. We used a random effects model (mixed model with repeated measurements) to compare the performance of the QLI in operated and non-operated fetuses throughout pregnancy.
Fifty-eight cases of isolated left diaphragmatic hernia with complete follow-up were assessed in Hospital Universitari Vall d’Hebron in Barcelona (2003–2015). Thirty-eight of them were managed expectantly (non-TO) and the other 20 underwent tracheal occlusion (TO). All fetuses undergoing tracheal occlusion had lung-to-head ratio (LHR) <1, observed-to-expected LHR (o/eLHR) ≤45%, QLI <0.6 and liver up inside the thorax. The survival rate was 87% for the non-TO group and 60% for the TO group (p = 0.02). The QLI remained constant throughout pregnancy in both groups. The QLI in the TO group had lower values than the non-TO group (p < 0.03).
The quantitative lung index was constant during pregnancy. This index was lower in fetuses undergoing tracheal occlusion but no significant changes were seen in its performance during pregnancy.
Zika virus (ZIKV) has caused one of the most challenging global infectious epidemics in recent years because of its causal association with severe microcephaly and other congenital malformations. The ...diagnosis of viral infections usually relies on the detection of virus proteins or genetic material in clinical samples as well as on the infected host immune responses. Serial serologic testing is required for the diagnosis of congenital infection when diagnostic molecular biology is not possible.
A 2-year-old girl, born to a mother with confirmed ZIKV infection during pregnancy, with a confirmed ZIKV infection in utero, showed at birth a severe microcephaly and clinical characteristics of fetal brain disruption sequence compatible with a congenital ZIKV syndrome (CZS).
ZIKV-RNA and ZIKV-IgM serological response performed at birth and during the follow-up time tested always negative. Serial serologic ZIKV-IgG tests were performed to assess the laboratory ZIKV diagnosis, ZIKV-IgG seroreversion was observed at 21 months of age. ZIKV diagnosis of this baby had to be relied on her clinical and radiological characteristics that were compatible with a CZS.
The patient was followed-up as per protocol at approximately 1, 4, 9, 12, 18-21, and 24 months of age. Neurological, radiological, audiological, and ophthalmological assessment were performed during this period of time. Prompt rehabilitation was initiated to prevent potential adverse long-term neurological outcomes.
The growth of this girl showed a great restriction at 24 months of age with a weight of 8.5 kg (-2.5 z-score) and a head circumference of 40.5 cm (-4.8 z-score). She also had a great neurodevelopmental delay at the time of this report.
We presume that as a consequence of prenatal ZIKV infection, the fetal brain and other organs are damaged before birth through direct injury. Following this, active infection ends during intrauterine life, and as a consequence the immune system of the infant is unable to build up a consistent immune response thereafter. Further understanding of the mechanisms taking part in the pathogenesis of ZIKV congenital infection is needed. This finding might change our paradigm regarding serological response in the ZIKV congenital infection.
Purpose
To evaluate the performance of chromosomal microarray analysis (CMA) in fetuses with nuchal translucency (NT) > 95th percentile. Secondary objectives were to analyze these results according ...to NT thickness, below or above 3.5 mm, and those without associated anomalies.
Methods
This observational single-cohort study was conducted between 2015 and 2018 in fetuses with NT > 95th percentile. Following an invasive test, quantitative fluorescence-polymerase chain reaction (QF-PCR) was performed, and if normal, CMA was performed. Pathogenic copy number variants (CNVs), non-reported pathogenic CNV, pathogenic autosomal recessive variants and variants of unknown significance (VUS) were analysed.
Results
One-hundred and sixty-two fetuses with NT > 95th percentile, normal QF-PCR and CMA were included. Amongst 128 fetuses with NT between the 95th percentile and 3.5 mm, one (0.8%) had a pathogenic CNV, four (3.1%) had non-reported pathogenic CNV, one (0.8%) had pathogenic autosomal recessive variant and 13 (10.2%) had VUS. Amongst 34 fetuses with NT ≥ 3.5 mm, four (11.8%) had pathogenic CNV, one (2.9%) had non-reported pathogenic CNV, one (2.9%) had pathogenic autosomal recessive variant and four (11.8%) had VUS. Four in 162 (2.5%) fetuses had CNVs at the chromosome 16p13.11 region. Amongst 154 fetuses without structural abnormalities and normal QF-PCR, three (1.9%) had a pathogenic CNV, 5 (3.2%) had non-reported pathogenic CNV, one (0.6%) autosomal recessive pathogenic CNV and 16 (10.4%) had VUS.
Conclusion
Pathogenic CNVs were found in 1% of fetuses with an NT thickness between the 95
th
percentile and 3.5 mm and in 12% of fetuses with NT ≥ 3.5 mm. CNVs were found at the 16p13.11 region in 2.5% of cases.
PDF
