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Background: Despite the well-known second trimester ultrasound signs, current possibilities of in utero surgical repair of open spina bifida require a timely detection of the spine defect.Objective: To evaluate the diagnostic accuracy of the ratio between brain stem (BS) diameter and its distance to the occipital bone (BSOB) (BS/BSOB ratio) in the detection of fetuses with open spina bifida at first trimester ultrasound.Methods: A systematic review and meta-analysis of diagnostic accuracy was performed by searching seven electronic databases from their inception to February 2019 for all studies assessing the association between BS/BSOB ratio and diagnosis of spine bifida. Diagnostic accuracy of BS/BSOB ratio in prenatal diagnosis of spine bifida was assessed as sensitivity, specificity, positive and negative likelihood ratios (LR + and LR-), and area under the curve (AUC) on SROC curves.Results: Four studies, including 17,598 fetuses with 23 cases of open spina bifida, were included in the meta-analysis. BS/BSOB ratio showed pooled sensitivity of 0.70 (95% CI 0.47-0.87; I2 = 78.3%), specificity of 1.00 (95% CI 0.99-1.0; I2 = 99.2%), LR + and LR- of 51.44 (95% CI 9.53-277.64; I2 = 85.5%) and 0.23 (95% CI 0.04-1.17; I2 = 64.8%), respectively, and an AUC of 0.9649.Conclusion: First trimester BS/BSOB ratio has a high diagnostic accuracy in detecting fetuses with open spina bifida. [ABSTRACT FROM AUTHOR]

Aim: Orofacial clefts comprise cleft lip (CL) or cleft lip-palate (CLP) and are the most frequently encountered malformation of the facial region, accounting for approximately 1-2.2/1,000 live births. The aim of this study was to reveal the particularities regarding the prenatal diagnosis of orofacial clefts in a series of 11 cases diagnosed in a tertiary center.Material and methods: The study was performed in a tertiary diagnostic center for a period of 8 years (January 2010 - December 2017), on8125 patients that were assessed for screening or suspicion of malformations.Results: During the assessed period a number of 11 fetuses (0.13%) were diagnosed by 2D and 3D ultrasound with CL (4 cases) or CLP (7 cases). The smallest gestational age at diagnosis was of 14 weeks, whereas the highest was 35 weeks. Of the 7 cases diagnosed with CLP, 4 presented also other associated anomalies that involved the central nervous system, the kidney, the skeleton and the stomach. All 4 cases of CL had identifiable associated anomalies. Termination of pregnancy was encountered in 3 cases with CLP.Conclusions: CLP can be diagnosed even at the end of the 1st trimester of pregnancy. CL is usually diagnosed during the 2nd trimester ultrasound exam and is commonly an isolated anomaly. [ABSTRACT FROM AUTHOR]

Purpose: To assess fetal central nervous system (CNS) abnormalities presenting as major findings leading to late termination of pregnancy (late TOP) performed ≥ 24 weeks' gestation.Method: The study population included 2789 pregnant women that underwent late TOP in our institute between the years 1998 and 2015.Results: Fifty-seven cases (2.0%) underwent late TOP because of fetal CNS indications and are the subjects of the current study. Those cases were subdivided into four categories (1) no routine prenatal screening with an incidental finding discovered ≥ 24 weeks' gestation (25 patients, 43.8%); (2) developmental or acquired findings detected during late second and third trimester (22 patients, 38.6%); (3) apparently normal routine screening with abnormal findings that could have been detected earlier (six patients, 10.6%); (4) routine prenatal care raised suspicion of abnormalities, and the final diagnosis was established only following additional tests (four patients, 7.0%).Conclusions: Combining the two categories of CNS abnormalities, i.e., pregnant women who did not undergo any fetal evaluation (group 1) and those that could have been detected earlier (group 3) consists 54% from our cohort in which late TOP could have been avoided. On contrary, 39% fetuses from our study population had CNS developmental findings which could be detected only at advanced stage of gestation. [ABSTRACT FROM AUTHOR]

Purpose: To analyze fetal cases with spina bifida undergoing termination of pregnancy according to chromosomal analysis and further diagnosed sonographic findings.Methods: Retrospective analysis of cases with spina bifida leading to termination of pregnancy in a tertiary referral center from 2002 to 2011.Results: In the study period, 246 cases of spina bifida were diagnosed in our center and 157 parents chose termination of pregnancy. The time of diagnosis was on average 2 days before the first presentation at our department (22 + 3, range: 12 + 3 - 33 + 3 weeks of gestation). Among 157 pregnancies with spina bifida and termination of pregnancy, further malformations could be detected in 46 (29.3 %) cases. An abnormal karyotype could be found in 13 (18.1 %). Severe ventriculomegaly or mild/moderate ventriculomegaly was present in 109 (69.4 %) and 29 (18.5 %) of the cases, respectively, while banana sign was detectable in 153 cases (97.5 %). In the majority, the upper lesion level was lumbar (71.3 %). In 67 cases (42.7 %), termination of pregnancy took place in or after the 24th week of gestation.Conclusion: Direct and indirect signs of spina bifida were detectable in nearly all cases independent of the gestational age. Therefore, the diagnosis could have been made in all cases with late termination. Implementation of a uniform prenatal care including first-trimester scan with potential signs for open spina bifida and second-trimester anomaly scan with indirect intracranial findings and direct detection of spinal lesion could lead to an earlier diagnosis and help to reduce late termination of pregnancy in neural tube defects. [ABSTRACT FROM AUTHOR]

Objective: To evaluate prospectively the performance of Fetal Intelligent Navigation Echocardiography (FINE) applied to spatiotemporal image correlation (STIC) volume datasets of the normal fetal heart.Methods: In all women between 19 and 30 weeks' gestation with a normal fetal heart, an attempt was made to acquire STIC volume datasets of the apical four-chamber view if the following criteria were met: (1) fetal spine located between 5- and 7-o'clock positions; (2) minimal or absent shadowing (including a clearly visible transverse aortic arch); (3) absence of fetal breathing, hiccups, or movement; and (4) adequate image quality. Each STIC volume successfully acquired was evaluated by STICLoop™ to determine its appropriateness before applying the FINE method. Visualization rates of fetal echocardiography views using diagnostic planes and/or Virtual Intelligent Sonographer Assistance (VIS-Assistance®) were calculated.Results: One or more STIC volumes (365 in total) were obtained successfully in 72.5% (150/207) of women undergoing ultrasound examination. Of the 365 volumes evaluated by STICLoop, 351 (96.2%) were considered to be appropriate. From the 351 STIC volumes, only one STIC volume per patient (n = 150) was analyzed using the FINE method, and consequently nine fetal echocardiography views were generated in 76-100% of cases using diagnostic planes only, in 98-100% of cases using VIS-Assistance only, and in 98-100% of cases when using a combination of diagnostic planes and/or VIS-Assistance.Conclusions: In women between 19 and 30 weeks' gestation with a normal fetal heart undergoing prospective sonographic examination, STIC volumes can be obtained successfully in 72.5% of cases. The FINE method can be applied to generate nine standard fetal echocardiography views in 98-100% of these cases using a combination of diagnostic planes and/or VIS-Assistance. This suggests that FINE could be implemented in fetal cardiac screening programs. Published 2015. This article is a U.S. Government work and is in the public domain in the USA. [ABSTRACT FROM AUTHOR]

Background: The information about fetal malformation findings during the ultrasound examination often comes unexpectedly, and the women and their partners may not necessarily receive any conclusive statement on the prognosis. A finding such as fetal hydronephrosis range from being a soft markers or mild anomaly, to a serious condition associated with neonatal morbidity and mortality. The aim of this study was to explore women's reactions to the discovery of fetal hydronephrosis in the context of uncertainty regarding the prognosis.Methods: Ten women were interviewed and the interviews were conducted six to twelve months after the women gave birth. They had experience of suspected fetal hydronephrosis in gestational week 18-20. The interviews were recorded, transcribed verbatim and analysed using constant comparative analysis.Results: The core category, 'Going through crisis by knowing that you are doing the right thing' illustrates the meaning of women's reactions and feelings. It illuminates the four categories: 'When the unexpected happens'- on the one hand, women had positive views that the suspicious malformation could be discovered; however, on the other hand, women questioned the screening. 'To live in suspense during pregnancy' - the suspicious malformation caused anxiety and was a stressful situation. 'Difficulties in understanding information' - the women thought they had limited knowledge and had difficulties in understanding the information. 'Suppress feelings and hope for the best' - the women tried to postpone the problem and thought they should deal with it after delivery.Conclusions: Women are worried irrespective of suspicious or severe malformations, and in need of information and counselling tailored to their individual needs. Other sources of support could be: written information, links to reliable sources on the Internet and possibilities for ongoing follow-ups. [ABSTRACT FROM AUTHOR]