Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation.

The study presents a pictorial essay of acrania-exencephaly-anencephaly sequence using two-(2D) and three-dimensional (3D) ultrasonography, documenting the different phenotypic characterization of this rare disease. Normal and abnormal fetuses were evaluated during the first trimester scan. The International Society of Ultrasound in Obstetrics and Gynecology practice guidelines were adopted to standardize first trimester anatomical ultrasound screening. The guidelines outline the importance of systematic fetal head and brain examination including the formation of cranial bones, choroid-plexus and ventricles. Acrania-exencephaly-anencephaly sequence and/or other neural tube defects, such as meningoencephalocele, may be identified during a routine 11-14 week scan. Early first trimester detection of acrania-exencephaly-anencephaly sequence with the characterization of different related phenotypes, 2D and 3D ultrasound imaging as well as differential diagnosis are also presented in this pictorial essay. The main diagnostic ultrasound features of the disease may be characterized by findings of acrania with increased amniotic fluid echogenicity; "Mickey-Mouse" bi-lobular face, cystic, elongated, irregular and overhanging head morphology. Lightening techniques have also been added to 3D ultrasound to enhance anatomical details. Moreover, discordant amniotic fluid echotexture in the setting of twin pregnancies may be the first sign of acrania-exencephaly-anencephaly sequence. Extracranial malformations, aneuploidy and genetic syndromes associated with acrania-exencephaly-anencephaly sequence are also reported and described. First trimester neuroscan by an expert sonographer with appropriate training together with the application of standardized protocol are essential for a high detection rate of this rare type of neural tube defect malformation during a scan performed at 11 and 13 weeks and 6 days.

Fetoscopic laser photocoagulation for twin-to-twin transfusion syndrome treatment: initial experience in tertiary reference center in Brazil.

OBJECTIVE: To evaluate the initial maternal and perinatal outcomes of fetoscopic laser photocoagulation for the treatment of twin-to-twin transfusion syndrome (TTTS) in a referral center in Brazil. METHODS: This prospective observational study analyzed 24 fetoscopic laser photocoagulation procedures at 18-26 weeks of gestation. TTTS severity was determined using the Quintero classification. Blood vessels that crossed the interamniotic membrane were nonselectively photocoagulated. The χ2 test and Mann-Whitney U test were used for the statistical analysis. RESULTS: The mean (±standard deviation) age of pregnant women, gestational age at surgery, surgical time, gestational age at birth, and newborn weight were 32.2±4.1 years, 20.7±2.9 weeks, 51.8±16.7 minutes, 30.5±4.1 weeks, and 1,531.0±773.1 g, respectively. Using the Quintero classification, there was a higher percentage of cases in stage III (54.2%), followed by stages IV (20.8%), II (16.7%), and I (8.3%). Ten (41.7%) donor fetuses died and 14 (58.3%) donor fetuses survived until the end of gestation. Placental insertion location (anterior vs. posterior) did not affect the incidence of iatrogenic septostomy, surface bleeding, and premature rupture of membranes until the end of gestation. The death rate of donor and recipient fetuses before 24th gestational week increased with severity of TTTS. CONCLUSION: The maternal and perinatal outcomes resulting from the implementation of a new minimally invasive surgical technique are in line with those obtained in major centers worldwide, considering the learning curves and infrastructures.

Prenatally diagnosed fetal tumors of the head and neck: a systematic review with antenatal and postnatal outcomes over the past 20 years.

AIM: The aim of this study was to review prenatally diagnosed tumors of the head and neck in the fetus and to report antenatal and postnatal outcomes. METHODS: PubMed/Medline, EMBASE/SCOPUS, Cochrane database and Google Scholar were reviewed over the last 20 years. No language or article type restriction was used. RESULTS: A total of 1940 record were retrieved. Of the 713 records screened, 566 full-text articles were assessed for eligibility. After 445 articles were excluded for specified reasons, 111 studies met the research criteria and were included for qualitative analysis. Overall, 306 cases of fetal tumors of the head and neck were reviewed. Maternal age was an independent factor. The mean maternal age was 28.2 years and gestational age at prenatal diagnosis was 27.1 weeks. Conventional 2D ultrasound was the standard diagnostic procedure in 27.9% of cases and was implemented in 27.3% of cases by 3D ultrasound and fetal magnetic resonance imaging (MRI). Diagnostic evaluation of intracranial spreading and high-airway obstructions was greatly enhanced by fetal MRI. The more common type of fetal tumor was hemangioma/lymphangioms (42.1%), followed by teratomas (29.7%), tumors of the gingiva (10.1%) and lymphatic venous malformations (9.1%), respectively. Fetal karyotyping was performed only in 9.8% of cases; within fetuses undergoing karyotype, chromosomal abnormalities accounted for 20% of cases. The most common pregnancy complication was polyhydramnios (26.3%). Ex utero intrapartum treatment (EXIT) procedure was performed in 30.1% of cases while surgical excision was used in 22.9% during postnatal life. The survival rate was 35.35%. CONCLUSION: Fetal tumors of the head and neck are rare congenital malformations. Two-dimensional ultrasound is diagnostic in almost all cases; however, MRI may be an important diagnostic adjunct in targeted cases and help patient selection for immediate intubation at the time of delivery. EXIT procedure and surgical removal of the tumor was associated with good prognosis.

Assessment of ultrasound and Doppler parameters in the third trimester of pregnancy as predictors of adverse perinatal outcome in unselected pregnancies.

OBJECTIVES: The aim of the study was to investigate ultrasound and Doppler parameters in the third trimester of pregnancy as possible predictors of adverse perinatal outcome in unselected pregnancies. MATERIAL AND METHODS: We performed a retrospective cross-sectional study including unselected pregnant women be-tween 27 and 36 + 6 weeks of gestation. The following ultrasound and Doppler parameters were assessed: estimated fetal weight (EFW) [g], EFW percentile, placental maturity grade (Grannum classification), single vertical deepest pocket (SVDP) of amniotic fluid [cm], amniotic fluid index (AFI) [cm], mean uterine artery (UtA) pulsatility index (PI), umbilical artery (UA) PI, middle cerebral artery (MCA) PI, MCA peak systolic velocity (PSV) [cm/s], and cerebroplacental ratio (CPR). Adverse perinatal outcome was defined as Apgar score of < 7 at 1 min, birth weight of < 2500 g at delivery, and gestational age of < 37 weeks at delivery. The unpaired t test was used to compare the groups. RESULTS: AFI (p = 0.01), mean UtA PI (p = 0.04) and mean UA PI (p = 0.03) were significantly different with regard to the Apgar score at 1 min. EFW, EFW percentile, SVDP of amniotic fluid, AFI, mean UtA PI, UA PI, and MCA PI were significantly different (p < 0.001) in terms of birth weight. Placental maturity grade (p = 0.02), SVDP of the amniotic fluid (p < 0.001), AFI (p < 0.001), mean UtA PI (p < 0.001), UA PI (p = 0.001), and MCA PI (p < 0.001) were significantly different as far as gestational age at delivery is concerned. CONCLUSION: Ultrasound and Doppler parameters may predict adverse perinatal outcomes in unselected pregnancies in the third trimester of pregnancy.

Reference charts of fetal biometric parameters in 31,476 Brazilian singleton pregnancies.

OBJECTIVES: The purpose of this study was to establish reference charts of fetal biometric parameters measured by 2-dimensional sonography in a large Brazilian population. METHODS: A cross-sectional retrospective study was conducted including 31,476 low-risk singleton pregnancies between 18 and 38 weeks' gestation. The following fetal parameters were measured: biparietal diameter, head circumference, abdominal circumference, femur length, and estimated fetal weight. To assess the correlation between the fetal biometric parameters and gestational age, polynomial regression models were created, with adjustments made by the determination coefficient (R(2)). RESULTS: The means ± SDs of the biparietal diameter, head circumference, abdominal circumference, femur length, and estimated fetal weight measurements at 18 and 38 weeks were 4.2 ± 2.34 and 9.1 ± 4.0 cm, 15.3 ± 7.56 and 32.3 ± 11.75 cm, 13.3 ± 10.42 and 33.4 ± 20.06 cm, 2.8 ± 2.17 and 7.2 ± 3.58 cm, and 256.34 ± 34.03 and 3169.55 ± 416.93 g, respectively. Strong correlations were observed between all fetal biometric parameters and gestational age, best represented by second-degree equations, with R(2) values of 0.95, 0.96, 0.95, 0.95, and 0.95 for biparietal diameter, head circumference, abdominal circumference, femur length, and estimated fetal weight. CONCLUSIONS: Fetal biometric parameters were determined for a large Brazilian population, and they may serve as reference values in cases with a high risk of intrauterine growth disorders.

Uterine artery embolization with methotrexate infusion as treatment for cesarean scar pregnancy. Case report.

Cesarean scar pregnancy is a rare form of ectopic pregnancy. It is associated with many complications, including a high risk of massive bleeding and hysterectomy under unfavorable conditions. Conservative treatment with systemic methotrexate (MTX) has been used preferentially with the aim of allowing the patient to have a reproductive future. However, cases of complex ectopic masses in a cesarean scar with guarded prognosis demand techniques that are more effective, such as uterine artery embolization (UAE) in association with intra-arterial MTX infusion. We describe the case of a 35-year-old patient in the 8th week of pregnancy who was referred to us because of genital bleeding and suspected ectopic pregnancy in the cesarean scar. After confirmation of the diagnosis, an initial attempt at systemic treatment with MTX was made. This was abandoned due to the elevation of the hepatic transaminase level. In addition, because of the complexity of the mass and the patient's desire to preserve her reproductive capacity, it was decided to perform UAE with local MTX infusion. The procedure was performed successfully and the patient's fertility was preserved.

Prenatal diagnosis of congenital syphilis using two- and three-dimensional ultrasonography: case report.

The numbers of syphilis cases have been increasing considerably, especially in eastern europe, thereby contributing towards greater chances of cases of congenital syphilis. Some of the complications of congenital syphilis can be detected on two-dimensional ultrasonography (2DUS), and these are generally manifested in the second trimester of pregnancy. The commonest ultrasonographic signs are hepatosplenomegaly, placentomegaly, and fetal growth restriction, while lower-frequency occurrences include intrahepatic calcifications, ascites, fetal hydrops, and even fetal death. Three-dimensional ultrasonography (3DUS) is a relatively new imaging technique that is adjuvant to 2DUS and enables detailed assessment of the fetal surface anatomy. We present a case of a 21-year-old primigravida with a diagnosis of congenital syphilis, with obstetric 2DUS findings of hepatosplenomegaly, ascites, pericardial effusion and hyperechogenicity of the cerebral parenchyma. 3DUS in rendering mode allowed clear assessment of the fetal limbs, especially the feet, which appeared twisted and lacked some toes. It allowed the parents to understand the pathological condition better and improved prenatal management and neonatal followup. 3DUS can be used routinely for assessing fetal malformations resulting from congenital infections.