Horacio Aiello

Intrafetal Alcohol Chemosclerosis of Acardiac Twins: A Multicenter Experience

Objective: To report a multicenter experience with intrafetal alcohol chemosclerosis in the treatment of pregnancies complicated with the twin reversed arterial perfusion sequence. Methods: Percutaneous injection of 1– 2 ml of absolute alcohol into the intra-abdominal segment of the single umbilical artery was performed in 8 acardiac twins. Cases were collected from 5 centers following a standardized protocol. The procedure was performed under continuous ultrasound control, using color Doppler ultrasound to identify the main arterial vessel entering the abdomen of the acardiac twin and passing a 20-gauge spinal needle into the targeted vessel. Intraoperative and short-term complications were noted. Information on pregnancy outcome was obtained by reviewing the medical records or contacting the referring obstetrician. Result: At the time of the procedure, the acardiac twin was severely hydropic and the size exceeded 70% of the size of the pump twin in all cases. In addition, there were associated complications in all the pump twins including polyhydramnios in 8 cases (100%), cardiac insufficiency in 5 (63%), and fetal growth restriction in 1 (13%). The procedure was performed at a mean gestational age of 24.7 weeks (range 20–32), and it was technically successful in all cases. However, it was complicated with thrombosis of the umbilical vessels of the pump twin in 1 case, and transient bradycardia in 2 others. These 3 pump twins died in utero as a result of the procedure. The other 5 procedures were technically and clinically successful, resulting in an overall survival rate of 63%. In 4 pregnancies, the pump twin was delivered after 35 weeks and had no neonatal complications. Conclusions: Intrafetal alcohol chemosclerosis is a simple procedure that can be performed in any fetal medicine center around the world to stop the vascular supply to acardiac twins. However, the main concern with this technique is intravascular transfer of the ablative material to the circulation of the pump twin. The use of this technique should therefore be restricted to those pregnancies with poor prognostic factors and in countries where more sophisticated methods for the treatment of this condition are not available.

Prenatal Diagnosis of Skeletal Dysplasias: Contribution of Three-Dimensional Computed Tomography

Objective: To describe the contribution of 3-dimensional computed tomography (3D-CT) in the prenatal diagnosis of skeletal dysplasias (SD) in a cohort of patients with inconclusive diagnosis by ultrasound (US). Methods: Between May 2007 and February 2010, six pregnant women with suspected fetal SD on US examination but with no specific diagnosis were studied with 3D-CT. The images were evaluated by a multidisciplinary team who proposed a likely diagnosis. Further postnatal workup included clinical and radiological evaluation in all cases. Prenatal and postnatal diagnoses were compared. Results: The use of 3D-CT provided a precise diagnosis confirmed postnatally in 5/6 patients. These included osteogenesis imperfecta type II (n = 2), osteogenesis imperfecta type III (n = 1), chondrodysplasia punctata (n = 1) and thanatophoric dysplasia type I (n = 1). A precise diagnosis could not be made in 1 case – either pre- or postnatally. Conclusion: Prenatal 3D-CT contributed to the diagnosis of the specific fetal SD in the majority of these cases. 3D-CT may have a complementary role to US where fetal SD is suspected, but no specific diagnosis can be made using US alone. Further studies on clinical performance and risk-benefit analysis are needed.

Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases

Congenital megalourethra is a rare urogenital malformation characterized by dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. Postnatal complications include voiding and erectile dysfunction as well as renal insufficiency and pulmonary hypoplasia. To date, only a few prenatally diagnosed cases have been reported. We report on 10 cases diagnosed prenatally and their postnatal/autopsy findings.

Clusters of sirenomelia in South America

BACKGROUND One hospital in the city of Cali, Colombia, of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) network, reported the unusual occurrence of four cases of sirenomelia within a 55-day period. METHODS An ECLAMC routine for cluster evaluation (RUMOR) was followed that included: calculations of observed/expected ratios, site visits, comparison with comprehensively collected local, South American, and worldwide data, cluster analysis, and search for risk factors. RESULTS All four Cali sirenomelia cases were born to mothers living in a 2 km(2) area, in neighboring communes, within the municipality of Cali. Considering the total births of the city of Cali as the denominator, and based on ECLAMC baseline birth prevalence rates (per 100,000) for sirenomelia (2.25, 95% CI: 2.66, 3.80), the cluster for this congenital abnormality was unlikely to have occurred by chance (observed/expected ratio = 5.77; 95% CI: 1.57-14.78; p = .002). No consistent common factor was identified, but vicinity to an open landfill as the cause could not be rejected. Another ECLAMC hospital in San Justo, Buenos Aires, Argentina, reported three further cases but these did not seem to constitute a nonrandom cluster. CONCLUSIONS The methodology used to evaluate the two possible clusters of sirenomelia determined that the Cali sirenomelia cluster was unlikely to have occurred by chance whereas the sirenomelia cluster from San Justo seemed to be random.

Diagnóstico genético prenatal no invasivo de factor Rh y sexo fetal a través del análisis de ADN fetal libre en plasma materno

INTRODUCTION The analysis of free fetal DNA in maternal plasma allows the assessment of fetal genetic material avoiding the necessity of invasive procedures during pregnancy. OBJECTIVE To evaluate the feasibility and the diagnostic performance of fetal sex and fetal RhD detection through the analysis of free fetal DNA in maternal plasma using standard reagents in molecular biology. MATERIAL AND METHODS A hundred and nine blood samples of pregnant women were obtained. Amplification by real time PCR a sequence from the RhD gene in Rh negative patients and a Y-chromosome sequence, for the diagnosis of fetal Rh and sex respectively, were performed. Results were compared with neonatal outcomes. RESULTS From the 109 samples, 26 are still ongoing, 4 ended in spontaneous abortions and in 3 were lost to follow up. From the remaining 76 samples with neonatal result, the determination of fetal Rh from the RhD gene was performed in 65 Rh negative women, whereas in 66 samples the fetal sex analysis was evaluated. Overall, 15 samples had not conclusive results and were excluded from the study. The predictive values for RhD positive and negative were 85% and 90%, respectively, while the prediction for male sex was 94.3% and for female sex 95%. CONCLUSION The non invasive determination of fetal RhD and sex in maternal plasma using standard reagents in molecular biology was feasible in the majority of the samples, with a diagnostic performance similar to the reported in the literature.

Prenatal Sonographic Detection of Birth Defects in 18 Hospitals From South America

Objective. The purpose of this study was to assess the accuracy of prenatal sonographic diagnosis of birth defects and the gestational age at detection according to the health insurance schemes of mothers in 450 malformed neonates from 18 South American hospitals on the basis of prenatal sonographic records. Methods. Between July 2000 and December 2003, 18 hospitals included in the Latin American Collaborative Study of Congenital Malformations (13 from Argentina [8 public and 5 nonpublic], 3 from Brazil [2 public and 1 nonpublic], 1 from Chile [nonpublic], and 1 from Venezuela [public]) voluntarily participated in this prospective observational study, recording fetuses with sonographically detected malformations. Prenatal sonographic descriptions of anomalies were compared with those recorded at birth. Results. Of 812 anomalies detected at birth, 457 had been prenatally detected (detection rate, 56.3%; 95% confidence interval, 52.8%–59.8%). Before 24 gestational weeks, anencephaly had the highest detection rate. Cleft lip and clubfoot were more easily detected when associated with other anomalies. The detection rates for central nervous system and renourinary malformations were greater than 80%. Detection rates between both health insurance schemes (public and nonpublic) did not show significant differences, but anencephaly, spina bifida, renourinary defects, and cleft lip with or without cleft palate were detected earlier in patients from nonpublic rather than in public hospitals. Conclusions. For specific anomalies, South America shows similar levels of prenatal sonographic detection as developed countries. Detection rates during pregnancy were similar for public and nonpublic hospitals, whereas cases were diagnosed earlier in patients from nonpublic hospitals.

Fetal Doppler mechanical PR interval: correlation with fetal heart rate, gestational age and fetal sex

To establish normal fetal values for the mechanical PR interval by pulsed‐wave Doppler at 16–36 weeks of gestation, and to evaluate the influence of fetal heart rate (FHR), gestational age (GA) and fetal sex.

Foetal aortic valvuloplasty: experience of five cases

OBJECTIVES Foetal aortic valvuloplasty has been proposed as a strategy to improve left heart growth and function in foetuses with severe aortic stenosis at risk of progression to hypoplastic left heart syndrome. We report our experience with this intervention. METHODS AND RESULTS Between 2005 and 2010, five foetuses with aortic stenosis and at risk of progression to hypoplastic left heart syndrome underwent ultrasound-guided percutaneous foetal aortic valvuloplasty. There were no associated maternal complications or foetal demise. In one case, the pregnancy was terminated a couple of weeks after the intervention, one foetus evolved to hypoplastic left heart syndrome, and three did not. CONCLUSIONS Foetal aortic valvuloplasty seems to be a safe and feasible procedure. It has been reported that it has the potential to prevent progression to hypoplastic left heart syndrome in selected foetuses with severe aortic stenosis. Further investigation regarding physiological and clinical aspects of this disease both prenatally and postnatally will probably allow to improve therapeutic strategies and clinical outcome.

[Ex utero intrapartum treatment - Management of neonatal congenital high airway obstruction syndrome: Case report].

UNLABELLED In recent years, the ex utero intrapartum treatment (EXIT), that involves extrauterine fetal intubation prior to delivery, has become relevant for the reduction in morbidity and mortality of neonates affected by congenital high airway obstruction syndrome (CHAOS). CLINICAL CASE We report the case of the mother of an unborn child at pregnancy week 22, who was diagnosed a congenital pulmonary malformation that precluded intrapartum fetal circulatory deficit and resulted in the conduction of an EXIT technique, with the aim of ensuring fetal blood gas exchange at the time of delivery. CONCLUSIONS A timely practice of the EXIT technique resulted, by monitoring both maternal and fetal factors that might affect fetoplacental circulation, in the birth of a child whose immediate and long-term outcomes were successful allowing the child live a normal life.

Stomach in Contact with the Bladder: A Sonographic Sign of Left Congenital Diaphragmatic Hernia.

The evaluation of the characteristics of the fetal stomach should be part of every routine prenatal ultrasound after 11 weeks. A position that has not been previously described in the literature is the stomach in contact with the bladder. We describe 6 cases with the ultrasonographic finding of the stomach in contact with the bladder, all of them in fetuses with left-sided congenital diaphragmatic hernia. Even though the reasons for this striking position of the stomach are not clear, our series highlights the fact that the visualization of the stomach in contact with the bladder may be a specific sonographic marker of congenital diaphragmatic hernia.