Search

Introduction The purpose of this study was to describe the echographic features and perinatal outcomes of fetuses with absence of ductus venosus. Material and methods Retrospective review of 10 cases with absence of ductus venosus diagnosed by prenatal ultrasonography between January 2014 and February 2016 at a single referral center. Prenatal findings, umbilical shunting type, perinatal outcomes, and autopsy reports were reviewed. Results A total of 11 491 fetuses underwent a first- and second-trimester screening during the study period. Ten cases of absence of ductus venosus were diagnosed. All of the fetuses presented an extrahepatic shunt: three fetuses from the umbilical vein to the right atrium and the seven remaining fetuses from the umbilical vein to the inferior vena cava. Major structural defects and fetal effusions were detected in six fetuses. There were two cases of chromosomal abnormalities. Five patients underwent legal termination of pregnancy and five decided to carry to term. In two of these, the absence of ductus venosus anomaly was isolated and had a normal outcome. In the remaining three cases, a follow up of the children showed a variety of adverse outcomes. Conclusions The absence of ductus venosus is associated with high rates of adverse perinatal outcomes. The prognosis for this group of anomalies depends on the additional findings with targeted ultrasound. This pathology should lead to a detailed anatomical study and affected fetuses should be closely monitored for signs of congestive heart failure. [ABSTRACT FROM AUTHOR]

The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates.Exclusion Criteria: case reports, non English language, data reported in graphs or percentage. From each article: sample size, type of malformation, indication for TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS), genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax, limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple severe malformations for which a single indication for TOP/stillbirth could not be identified). Correspondence between autopsy and ultrasound was defined as agreement (same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed (false positive and false negative ultrasound). PRISMA guidelines were followed. From 19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted of 3.2% false positive and 2.8% false negative cases. The additional findings changed the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton (76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%). In spite of the high agreement between prenatal ultrasound and autopsy, fetal examination is mandatory because in a minority of cases it discloses additional findings or changes the final diagnosis and genetic counselling. [ABSTRACT FROM AUTHOR]

Background: Down syndrome (trisomy 21) is a well-known cause of mental retardation. It can be diagnosed in early pregnancy. Scientists have made great strides in outlining the pathophysiologic mechanisms of mental retardation in Down syndrome. Much less has been published on human therapy. To cur knowledge, these are the first published cases of fetal therapy for Down syndrome. Methodology: Reports of three cases. In all cases, treatment was both biochemical (e.g. nutritional) and educational. In all cases, treatment was both befcre and after birth. Results: All children lacked the characteristic faces usually seen in the children with Down syndrome. This suggests a treatment effect before birth. All children had better than expected development. Discussion: Enhancement of development is preposed as a new therapeutic principle. Developing neurons exchange neurotrophic factors during development when they give or receive stimulation from other neurons. Neurons which receive neurotrophic stimulation survive, and those, which do not, are lost to apoptosis. The developmental therapeutic principle seeks to optimize brain development. Biochemical inputs (neurotransmitters, drugs, hormones, nutrients) and functional stimulation are integrated to optimize the growth and survival of neurons individually; other cells; subcellular organelles; and the brain as a whole. Treatment may be before and after birth, both biochemical and functional. These principles may be applied to Down syndrome, other conditions, and normal fetuses or children. Previously published: Baggot PJ and Baggot RM (2014). Fetal Therapy for Down Syndrome: Report of three cases and review of the literature. J Am Phys Surg 19(l):20-24. [ABSTRACT FROM AUTHOR]

Context.--Despite increased use of dilation and evacuation in the setting of fetuses with developmental anomalies, the pathology examination of fragmented specimens obtained by this technique has been understudied. Objectives.--To correlate pathologic findings in second-trimester fetal dilation and evacuation specimens with prenatal diagnoses established through ultrasound and/or chromosome studies to determine the value of pathology examination for supplementing or correcting clinical diagnoses. Design.--In this retrospective study, clinical and pathology findings were correlated in 448 dilation and evacuation specimens performed for second-trimester termination of pregnancy for fetal anomalies discovered on ultrasound examination (278 cases) or chromosome analysis (170 cases). Results.--In 109 of the 170 cases with chromosomal abnormalities (64%), pathologists identified at least 1 congenital defect associated with the respective karyotype. In 278 cases with ultrasound-detected anomalies, pathologists confirmed the major congenital defect in 116 fetal specimens (42%). Evaluating for congenital central nervous system and body wall/diaphragm pathologic findings proved challenging owing to tissue disruption. However, taking all categories into account, pathology studies corrected ultrasound diagnoses in 152 of 413 cases (37%) and yielded additional diagnostic findings in 137 cases (33%). Conclusions.--In a substantial number of cases, examination of fragmented fetuses corrected or refined prenatal diagnoses, demonstrating a role for detailed pathology examination of dilation and evacuation specimens in quality control of prenatal imaging studies and for potentially aiding subsequent genetic counseling. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding the detection of microdeletion syndromes in fetus with multiple anomalies through non-invasive prenatal cell-free DNA (cfDNA) testing.

Copyright of Acta Paulista de Enfermagem is the property of Universidade Federal de Sao Paulo, Escola Paulista de Enfermagem and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA).Methods: This was a retrospective study of all fetuses with RAA-no ICA diagnosed prenatally at three referral centers, between 2004 and 2014. A detailed sonographic examination was performed in each case, including visualization of the thymus and of the head and neck vessels to identify the presence of an aberrant left subclavian artery (ALSA). Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy.Results: During the study period, 85 fetuses were diagnosed prenatally with RAA-no ICA. Genetic or clinical data were not available for three cases and these were excluded from analysis. 22q11.2 deletion was found in 7/82 cases (8.5% (95% CI, 3.8-17.3%)). The thymus was small or non-visualized in all seven cases and additional abnormal sonographic findings were present in four.Conclusion: 22q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA-no ICA. In such cases, a detailed sonographic examination, with assessment of the thymus in particular, may be useful to further define the level of risk for 22q11.2 deletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: A prenatal ultrasound examination and a postmortem examination provide the basis for correct diagnosis in fetuses terminated due to congenital anomalies. The aim of this study was to correlate fetal anomalies detected by ultrasound examination with those identified at autopsy following termination of pregnancy (TOP) over a 30-year period, and to evaluate the correlation between findings at different gestational ages and assess these trends over time.Methods: The study group consisted of 1029 TOPs performed over a 30-year period, from 1985 to 2014. The gestational age ranged between 11 and 33 weeks. Prenatal ultrasound examinations were performed at the National Center for Fetal Medicine, St Olavs Hospital, Trondheim, Norway. Autopsies were performed at the Department of Pathology and Medical Genetics at the same hospital or a collaborating hospital.Results: There was full agreement between ultrasound and autopsy findings in 88.1% (907/1029) of TOPs, and the main diagnosis was correct in 97.9% (1007/1029). When comparing the 15-year period of 2000-2014 with that of 1985-1999, the difference in the rates of full agreement and agreement in the main diagnosis was statistically significant. In 1.3% (13/1029) of cases, ultrasound findings were not confirmed at autopsy. There were no false-positive diagnoses leading to TOP. Throughout the 30-year period, there was an increase in early TOPs, whereas late TOPs declined.Conclusions: Our study demonstrates that there is a clear correlation between ultrasound and autopsy findings, which is continuously improving. Despite this high correlation, there is reason to continue the practice of validation to ensure the safety of the diagnostic process leading to TOP. The trend towards an earlier termination emphasizes the necessity of such a practice. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To compare the accuracy of two-dimensional ultrasound (2D-US), three-dimensional ultrasound (3D-US) and magnetic resonance imaging (MRI) for the diagnosis of congenital anomalies without prior knowledge of indications and previous imaging findings.Methods: This was a prospective, blinded case-control study comprising women with a singleton pregnancy with fetal congenital abnormalities identified on clinical ultrasound and those with an uncomplicated pregnancy. All women volunteered to undergo 2D-US, 3D-US and MRI, which were performed at one institution. Different examiners at a collaborating institution performed image interpretation. Sensitivity and specificity of the three imaging methods were calculated for individual anomalies, based on postnatal imaging and/or autopsy as the definitive diagnosis. Diagnostic confidence was graded on a four-point Likert scale.Results: A total of 157 singleton pregnancies were enrolled, however nine cases were excluded owing to incomplete outcome, resulting in 148 fetuses (58 cases and 90 controls) included in the final analysis. Among cases, 13 (22.4%) had central nervous system (CNS) anomalies, 40 (69.0%) had non-CNS anomalies and five (8.6%) had both CNS and non-CNS anomalies. The main findings were: (1) MRI was more sensitive than 3D-US for diagnosing CNS anomalies (MRI, 88.9% (16/18) vs 3D-US, 66.7% (12/18) vs 2D-US, 72.2% (13/18); McNemar's test for MRI vs 3D-US: P = 0.046); (2) MRI provided additional information affecting prognosis and/or counseling in 22.2% (4/18) of fetuses with CNS anomalies; (3) 2D-US, 3D-US and MRI had similar sensitivity for diagnosing non-CNS anomalies; (4) specificity for all anomalies was highest for 3D-US (MRI, 85.6% (77/90) vs 3D-US, 94.4% (85/90) vs 2D-US, 92.2% (83/90); McNemar's test for MRI vs 3D-US: P = 0.03); and (5) the confidence of MRI for ruling out certain CNS abnormalities (usually questionable for cortical dysplasias or hemorrhage) that were not confirmed after delivery was lower than it was for 2D-US and 3D-US.Conclusions: MRI was more sensitive than ultrasonography and provided additional information that changed prognosis, counseling or management in 22.2% of fetuses with CNS anomalies. False-positive diagnoses for subtle CNS findings were higher with MRI than with ultrasonography. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Background: A prenatal diagnosis of a fetal anomaly involves acute grief and psychological distress. The Internet has the potential to provide virtual support following the diagnosis. The overall aim was to explore communication of support and critique in Swedish virtual community threads about prenatal diagnoses of fetal anomalies.Methods: Systematic searches in Google resulted in 117 eligible threads. Fifteen of these were purposefully selected and subjected to deductive content analysis.Results: The virtual support involved mainly emotional support (meaning units n = 1,992/3,688, 54 %) and was described as comforting and empowering. Posters with experience of a prenatal diagnosis appreciated the virtual support, including the opportunity to gain insight into other cases and to write about one's own experience. Critique of the decision to continue or terminate the pregnancy occurred, primarily against termination of pregnancy. However, it was met with defense.Conclusions: Peer support, mainly emotional, is provided and highly appreciated in threads about prenatal diagnoses of a fetal anomaly. Critique of the decision to terminate the pregnancy occurs in virtual community threads about prenatal diagnoses, but the norm is to not question the decision. Future studies need to investigate if virtual peer support promotes psychosocial function following a prenatal diagnosis and what medium would be most suitable for these types of supportive structures. [ABSTRACT FROM AUTHOR]

The aim of the study was to determine the incidence of psychological distress among expectant women carrying fetuses with prenatal diagnosed abnormalities and their partners. A 2-year retrospective medical chart review was completed of 1032 expectant mothers carrying fetuses with a confirmed anomaly, and 788 expectant fathers, who completed the CFDT Mental Health Screening Tool. Furthermore, 19.3 % of women and 13.1 % of men reported significant post-traumatic stress symptoms, and 14 % of men and 23 % of women scored positive for a major depressive disorder. Higher risk was noted among expectant parents of younger age and minority racial/ethnic status, and women with post-college level education and current or prior use of antidepressant medications. Heightened distress was noted within fetal diagnostic subgroups including neck masses, sacrococcygeal teratomas, neurological defects, and miscellaneous diagnoses. Incorporating screening tools into prenatal practice can help clinicians better identify the potential risk for psychological distress among expectant parents within high-risk fetal settings. [ABSTRACT FROM AUTHOR]

Advances in prenatal diagnosis create a unique set of clinical ethics dilemmas. Doctors routinely obtain genetic screening, radiologic images, and biophysical profiling. These allow more accurate diagnosis and prognosis than has ever before been possible. However, they also reveal a wider range of disease manifestations than were apparent when prenatal diagnosis was less sophisticated. Sometimes, the best estimates of prognosis turn out to be wrong. The infant's symptoms may be less severe or more severe than anticipated based on prenatal assessment. We present a case in which a prenatal diagnosis was made of severe osteogenesis imperfecta, leading to a decision to induce delivery at 31 weeks. On postnatal evaluation, the infant's disease did not appear to be as bad as had been anticipated. We discuss the ethical implications of such diagnostic and prognostic errors. [ABSTRACT FROM AUTHOR]

Pregnant women routinely undergo prenatal screening in Australia and this has become a common experience of motherhood. When prenatal screening or prenatal testing results in diagnosis of a serious fetal abnormality, women are presented with a decision to continue or terminate their pregnancy. Few recent studies have explored women’s psychosocial experience of prenatal diagnosis and pregnancy termination for fetal abnormality, and within this small group of studies it is rare for research to consider the embodied aspect of women’s experiences. This paper reports on qualitative findings from in-depth interviews with 59 women in Melbourne, Australia who received a prenatal diagnosis of a significant abnormality and decided to terminate the pregnancy. Interview transcripts were coded inductively through thematic analysis. Two themes about embodiment were generated from the interviews: transitioning embodiment, and vulnerable bodies in un/comfortable spaces. Theory of pregnant embodiment was drawn on in interpreting women’s narratives. Recommendations arising from the analysis include health professionals recognising, acknowledging and accommodating the transitioning embodied state of women as they consider, prepare for, undergo and recover from pregnancy termination for fetal abnormality. Further recommendations address the connections and disconnections between this transitioning embodied state and the spaces of clinics, hospitals and home. [ABSTRACT FROM AUTHOR]

Objective: To assess the incidence and impact of extracardiac anomalies on the prognosis of fetuses with heterotaxy syndrome. Methods: All fetuses diagnosed with heterotaxy syndrome by three experienced examiners over a period of 14 years (1999-2013) were reviewed retrospectively. Results: In total, 165 fetuses with heterotaxy syndrome were diagnosed in the study period. One hundred and fifty (90.9%) had cardiac defects; extracardiac anomalies that did not involve the spleen were present in 26/165 (15.8%) cases. Of the total study cohort, termination of pregnancy was performed in 49 (29.7%) cases, intrauterine death occurred in 11 (6.7%), postnatal death occurred in 38 (23.0%) and 67 (40.6%) were alive at the latest follow-up, resulting in a total perinatal and pediatric mortality of 59.4%. Among the 105 liveborn neonates, 15 (14.3%) had extracardiac anomalies with significant impact on the postnatal course: one neonate died following repair of an encephalocele, six had successful treatment for various types of intestinal malrotation and/or atresia and one underwent hiatal hernia repair; the remaining seven had biliary atresia, of which five died and the two survivors are awaiting liver transplantation. The status of the spleen was assessed in 93/105 liveborn children and was found to be abnormal in 84/93 (90.3%). There were three cases of lethal sepsis, all associated with asplenia. Of the 38 postnatal deaths, 29 (76.3%) had a cardiac cause, seven (18.4%) had an extracardiac cause and in two (5.2%) the reason was uncertain. Conclusions: Although the leading causes of death in fetuses and children with heterotaxy syndrome are cardiac, a small subset of fetuses have extracardiac anomalies with significant impact on outcome. These anomalies often escape prenatal detection, and therefore neonates at risk should be monitored for bowel obstruction, biliary atresia and immune dysfunction in order to allow timely intervention through a multidisciplinary approach. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

The number of pregnant women of advanced maternal age has increased worldwide. Women in this group have an increased chance of fetal abnormality. To explore Japanese women's experiences regarding maternal age-specific risks and prenatal testing, we conducted a descriptive qualitative study. Semi-structured interviews were conducted with 16 women aged 35 years or over who had given birth within the previous three months to a healthy, term infant. Thematic analysis of transcribed interview data was performed and three major themes were identified: inadequate understanding of genetic risks; insufficiently informed choice regarding prenatal testing; and need for more information from health professionals. Some participants were not aware of maternal age-specific risks to the fetus. Many took their cues from health professionals and did not raise the topic themselves, but would have considered prenatal testing if made aware of the risks. Nurses, midwives and other health professionals need to adequately inform pregnant women about the genetic risks to the fetus and offer testing at an appropriate stage early in the pregnancy. [ABSTRACT FROM AUTHOR]

Background. Early detection of malformation is tremendously improved with improvement in imaging technology. Yet in a developing country like India majority of pregnant women are not privileged to get timely diagnosis. Aims and Objectives. To assess the present status and potential of first trimester ultrasonography in detection of fetal congenital structural malformations. Methodology. This was a retrospective observational study conducted at Sanjay Gandhi Postgraduate Institute of Medical Sciences. All pregnant women had anomaly scan and women with fetal structural malformations were included. Results. Out of 4080 pregnant women undergoing ultrasound, 312 (7.6%) had fetal structural malformation. Out of 139 patients who were diagnosed after 20 weeks, 47 (33.8%) had fetal structural anomalies which could have been diagnosed before 12 weeks and 92 (66.1%) had fetal malformations which could have been diagnosed between 12 and 20 weeks. Conclusion. The first trimester ultrasonography could have identified 50% of major structural defects compared to 1.6% in the present scenario. This focuses on the immense need of the hour to gear up for early diagnosis and timely intervention in the field of prenatal detection of congenital malformation. [ABSTRACT FROM AUTHOR]

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The phenotypes associated with paternal uniparental disomy for chromosome 14 ( UPD(14)pat) are clinically distinctive and caused by genetic alterations at the 14q32.2 imprinted region. Here we describe prenatal and neonatal findings in a case of epimutation associated with UPD(14)pat-like phenotype. A 25-year-old Japanese woman was referred to hospital at 32 weeks of gestation for management of threatened premature delivery. Fetal ultrasound and magnetic resonance imaging showed a narrow thorax and polyhydramnios. At 35 weeks of gestation, emergency cesarean section was performed and placentomegaly was identified. Physical examination of the neonate indicated a small narrow thorax, diastasis recti, and dysmorphic facial features that included hirsute forehead, broad flat nasal bridge, micrognathia, small ears, and a long protruding philtrum. Genetic analysis identified epimutation at the intergenic differentially methylated region ( IG-DMR) and at MEG3- DMR. [ABSTRACT FROM AUTHOR]

The article presents Practice Bulletin No. 1 from the American Association of Pro-Life Obstetricians & Gynecologists (AAPLOG) group which provides physicians and members of the public with information about the concept of perinatal hospice care and a methodology for offering compassion for families with adverse prenatal diagnoses. Partial birth abortions and diagnoses of lethal fetal anomalies are mentioned, along with grief and the moral and ethical aspects of abortions.

Approximately 4% of U.S. abortions occur in desired pregnancies, with many resulting from fetal anomalies. The majority of terminations occur in the second trimester; however in recent years first-trimester ultra sound measurement for nuchal translucency, calculation of risk based on maternal age, and biochemistry at 11-14 weeks gestation, have resulted in earlier prenatal diagnoses for chromosomal abnormalities. First trimester ultrasound can also now lead to diagnoses of major structural abnormalities including anecephaly, ventral wall defects, and limb abnormalities. The American College of Medical Genetics released recommendations underscoring the crucial importance of ethical counseling and substantive communication with parents facing a prenatal diagnosis of fetal anomaly. Unfortunately, the inability of health care providers to understand and empathize with the ardent desire of some parents to refuse termination is likely to be a large factor in the common practice of professionals attempting to steer expectant parents toward termination. Perinatal hospice is family-centered, comprehensive, and integrative in nature. The care provided by perinatal hospice units is delivered by an interdisciplinary team of obstetricians, pediatricians, nurses, social work ers and chaplains in 130 locations throughout the U.S. Support is offered from diagnosis until death and beyond with time for “bonding, loving, and losing.” “Hospice care is an interactive, and at times intense, form of care. Rather than simply ‘letting nature take its course,' this approach empowers the family to take control of some of the consequences of their unfortunate situation.” A primary focus of perinatal hospice is on fear reduction. Parents facing the death of an infant often fear isolation and abandonment in addition to worrying about their child experiencing pain. Parents are assured that they will be cared for and supported throughout this entire chapter of their lives, as their babies are kept comfortable and free of pain until death. The approach is realistic without shattering hope that the diagnosis was wrong or that a miracle will take place as there is recognition that hope keeps parents going. There is also recognition that building memories is essential to the grieving process and frequent use of ultrasound is designed to provide visualization experience. Perinatal hospice teams assist in the development of birth plans, address the type and location of the delivery as well as aftercare of the mother and infant. [ABSTRACT FROM AUTHOR]

Objective To explore the feasibility of using four-dimensional echocardiography with B-flow and spatiotemporal image correlation (4D BF- STIC) imaging technology to detect fetal ductus venosus ( DV), and establish the normal reference range for the ductus venosus diameter at 18-40 weeks gestation. Methods This was a prospective observational study to detect the DV in 354 normal fetuses at 18-40 weeks of gestation using color Doppler echocardiography ( CDE) and 4D BF- STIC imaging. CDE was performed on an oblique transverse plane of the fetal abdomen, with scanning around the long-axis view of the aortic arch. The DV inlet was measured on a two-dimensional gray-scale image of the long-axis view of the DV. Offline analyses of all datasets were performed. Results The inlet diameter of the DV increased with increasing gestational age. There were no gender-related differences in the DV diameter. Data revealed that 4D BF- STIC was the best method to detect the DV between 18 and 29 weeks of gestation. The visualization rate was higher when scanning around the long-axis view of the aortic arch with CDE than when scanning around the oblique transverse plane throughout the gestational period. Conclusions Scanning around the long-axis view of the aortic arch using CDE was best suited for detecting the DV in clinical practice, whereas 4D BF- STIC was a feasible and promising technology to detect the fetal DV before 29 weeks of gestation. [ABSTRACT FROM AUTHOR]

Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test ( NIPT), the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and 'prenatal personalised medicine'. The article ends with recommendations for further debate, research and analysis. [ABSTRACT FROM AUTHOR]

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing ( NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. [ABSTRACT FROM AUTHOR]

Objective Non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has been developed for the detection of fetal aneuploidy. Clinical trials have shown high sensitivity and specificity for trisomy 21 (T21) in both high-risk and average-risk populations. Although its great potential for prenatal medicine is evident, more information regarding the consequences of implementing NIPT in a national programme for prenatal screening is required. Study design A decision-analytic model was developed to compare costs and outcomes of current clinical practice in The Netherlands using conventional screening only, with two alternatives: implementing NIPT as an optional secondary screening test for those pregnancies complicated by a high risk for T21, and implementing NIPT as primary screening test, replacing conventional screening. Probability estimates were derived from a systematic review of international literature. Costs were determined from a health-care perspective. Data were analysed to obtain outcomes, total costs, relative costs and incremental cost-effectiveness ratios (ICERs) for the different strategies. Sensitivity analysis was used to assess the impact of assumptions on model results. Results Implementing NIPT as an optional secondary, or as primary screening test will increase T21 detection rate by 36% (from 46.8% to 63.5%) and 54% (from 46.8% to 72.0%), simultaneously decreasing the average risk of procedure-related miscarriage by 44% (from 0.0168% to 0.0094% per pregnant woman) and 62% (from 0.0168% to 0.0064% per pregnant woman), respectively. None of the strategies clearly dominated: current clinical practice is the least costly, whereas implementing NIPT will cause total costs of the programme to increase by 21% (from €257.09 to €311.74 per pregnant woman), leading to an ICER of k€94 per detected case of T21, when utilised as an optional secondary screening test and by 157% (from €257.09 to €660.94 per pregnant woman), leading to an ICER of k€460 per detected case of T21, when utilised as primary screening test. However, implementing NIPT as triage test did result in the lowest expected relative costs per case of T21 diagnosed (k€141). Conclusion NIPT should be implemented in national health care as an optional secondary screening test for those pregnancies complicated by a high risk for T21. [ABSTRACT FROM AUTHOR]

Objective: Recent non-invasive prenatal testing (NIPT) technologies are based on next-generation sequencing (NGS). NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms. The majority of NIPT technology is associated with Illumina platform. We investigated whether fetal trisomy 18 and 21 were sensitively and specifically detectable by semiconductor sequencer: Ion Proton. Methods: From March 2012 to October 2013, we enrolled 155 pregnant women with fetuses who were diagnosed as high risk of fetal defects at Xiamen Maternal & Child Health Care Hospital (Xiamen, Fujian, China). Adapter-ligated DNA libraries were analyzed by the Ion Proton™ System (Life Technologies, Grand Island, NY, USA) with an average 0.3× sequencing coverage per nucleotide. Average total raw reads per sample was 6.5 million and mean rate of uniquely mapped reads was 59.0%. The results of this study were derived from BWA mapping. Z-score was used for fetal trisomy 18 and 21 detection. Results: Interactive dot diagrams showed the minimal z-score values to discriminate negative versus positive cases of fetal trisomy 18 and 21. For fetal trisomy 18, the minimal z-score value of 2.459 showed 100% positive predictive and negative predictive values. The minimal z-score of 2.566 was used to classify negative versus positive cases of fetal trisomy 21. Conclusion: These results provide the evidence that fetal trisomy 18 and 21 detection can be performed with semiconductor sequencer. Our data also suggest that a prospective study should be performed with a larger cohort of clinically diverse obstetrics patients. [ABSTRACT FROM AUTHOR]

Background Noninvasive prenatal testing ( NIPT) will change the delivery of prenatal care for all women, including those considered low risk for fetal chromosomal abnormalities. This study investigated pregnant women's attitudes, informational needs, and decision-making preferences with respect to current and future applications of NIPT. Methods A survey instrument was used to identify aspects of the decision-making process for NIPT among low-risk and high-risk populations. Results Both low-risk and high-risk women ( n = 334) expressed interest in incorporating NIPT as a screening test into their prenatal care. Information specific to NIPT's detection rate (86%), indications (77%), and performance in comparison with conventional screens and diagnostic tests (63%) were identified as lead factors when considering its use. The future availability of NIPT as a diagnostic test increased women's willingness to undergo testing for fetal aneuploidy, cancer susceptibility, and childhood-onset and adult-onset diseases. Despite its noninvasive aspects, participants expressed the need for a formal informed consent process (71%) to take place before testing. Conclusions This study demonstrates that NIPT will introduce new challenges for pregnant women and their health care practitioners who will be charged with supporting informed decision making about its use. It is critical that obstetric professionals are prepared to facilitate a patient-centered decision-making process as its clinical application rapidly changes. [ABSTRACT FROM AUTHOR]

Background Nearly two decades ago, the discovery of circulating cell-free fetal DNA in maternal blood created a paradigm shift in prenatal testing. Recent advances in DNA sequencing technology have facilitated the rapid translation of DNA-based testing into clinical antenatal care. Content In this review, we summarize the technical approaches and current clinical applications of noninvasive testing using cell-free DNA in maternal plasma. We discuss the impact of these tests on clinical care, outline proposed integration models, and suggest future directions for the field. Summary The use of cell-free DNA in maternal blood for the detection of fetal rhesus D antigen status, fetal sex, and common whole chromosomal aneuploidies is now well established, although testing for aneuploidy is still considered screening and not diagnostic. Further advances in technology and bioinformatics may see future clinical applications extend to the noninvasive detection of fetal subchromosomal aneuploidy, single gene disorders, and the entire fetal genome. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To determine associations between fetal lung and liver herniation volumes measured by magnetic resonance imaging ( MRI) and mortality/need for extracorporeal membrane oxygenation ( ECMO) in cases of isolated congenital diaphragmatic hernia ( CDH). A secondary objective was to compare prenatal MRI parameters with two-dimensional ultrasound lung measurements. Methods A retrospective review of medical records of all fetuses with isolated CDH evaluated between January 2004 and July 2012 was performed. The following MRI parameters were measured at 20-32 weeks: observed/expected total fetal lung volume (o/e- TLV), predicted pulmonary volume ( PPV), percentage of liver herniated into the fetal thorax (% LH) and the liver/thoracic volume ratio ( LiTR). These were compared with the ultrasound-determined lung-to-head ratio ( LHR) and the observed/expected LHR (o/e- LHR) in the same cohort. The predictive value of MRI and ultrasound parameters for mortality and the need for ECMO was evaluated by univariate, multivariate and factor analysis and by receiver-operating characteristics curves. Results Eighty fetuses with isolated CDH were evaluated. Overall mortality was 18/80 (22.5%). Two newborns died a few hours after birth. ECMO was performed in 29/78 (37.2%) newborns, with a survival rate of 48.3% (14/29). The side of the diaphragmatic defect was not associated with mortality ( P = 0.99) or the need for ECMO ( P = 0.48). Good correlation was observed among o/e- TLV, PPV, LHR and o/e- LHR as well as between % LH and LiTR ( r = 0.89; P < 0.01); however, fetal lung measurements and measures of liver herniation were not correlated (all P > 0.05). All parameters were statistically associated with mortality or the need for ECMO. The best combination of measurements to predict mortality was o/e- TLV and % LH, with 83% accuracy. Conclusion Mortality and the need for ECMO in neonates with isolated CDH can be best predicted using a combination of MRI o/e- TLV and % LH. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework. [ABSTRACT FROM AUTHOR]

Résumé: Si l’échographie est l’examen de référence pour le dépistage des anomalies cérébrales fœtales, l’IRM est réalisée en seconde intention sur des indications bien précises. Ces deux techniques sont complémentaires mais indépendantes et la synthèse de ces deux examens réalisée a posteriori permet en pratique une analyse plus précise des anomalies cérébrales fœtales. La technique fusion permet de coupler en temps réel des images d’échographie avec des images obtenues avec une autre technique d’imagerie (scanner ou IRM). Cette technique est applicable à l’étude du cerveau fœtal et la reconnaissance synchrone des structures anatomiques présente de multiples avantages, notamment sur le plan pédagogique. Il faut toutefois préciser que son accès reste actuellement limité au domaine de la recherche. [ABSTRACT FROM AUTHOR]

Objective: To describe the spectrum of clinical deformities related to amniotic band sequence (ABS), ranging from mild to severe. Methods: Retrospective evaluation of 9 cases of ABS managed during a 4-year period (February 2006 to April 2010) in a tertiary hospital. Results: The median gestational age at prenatal diagnosis was 15 weeks (range 11-26). Only 2 patients had clinical prenatal evidence of amnion rupture. In the other 5 cases the diagnosis of ABS was established prenatally based on fetal structural abnormalities. These abnormalities included: (1) upper limb defects: syndactyly, amputation at the level of phalanges or first metacarpal or forearm; (2) inferior extremities defects: tallus equinovarus and flexed knee, and constriction ring; (3) umbilical cord strangulation, and (4) acrania. Conclusion: ABS is a polymorphous syndrome and recognizing its various manifestations can be of help in prenatal identification. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Aims The main aim of this study was to determine the feasibility of using high-resolution microarray to assist with prenatal diagnosis of ultrasound-detected fetal abnormality and to describe the frequency of abnormal results in different categories of fetal anomalies. Methods Prospective cross-sectional study was conducted on women diagnosed with a fetal anomaly (ies) between February 2009 and December 2011 who were offered testing by microarray analysis ( Affymetrix 2.7M SNP) and fluorescent in situ hybridisation ( FISH) instead of standard karyotyping. Fetal anomalies were categorised according to organ system involvement. Results One hundred and eighteen women consented to testing with microarray. Eleven of one hundred eighteen (9.3%) cases had aneuploidy detected by FISH. Of the remaining 107, 23 (21.5%) had an abnormality detected on microarray, only three of which would have been detected using the combination of six-probe FISH and banded karyotype. The maximum expected yield for six-probe FISH and karyotype was thus 14/118 (11.8%), compared to 34/118 (28.8%), P < 0.0001. Of the 23 abnormalities detected with microarray, 10 (43%) were pathogenic, six (26%) were long continuous stretches of homozygosity and seven (30%) were of uncertain significance. The maximum yield was in cases with cardiovascular (100%); multiple (40%); central nervous system ( CNS) (25%) and skeletal (9%) abnormalities. Conclusion This study has confirmed the feasibility of translation of microarray into clinical practice. 11.8% (14/118) of the cases would have a genetic basis of an abnormality with a FISH and banded karyotype. This figure is approximately tripled to 28.8% (34/118) if we offer FISH and microarray. High yield for imbalances are multiple, cardiovascular, CNS and skeletal abnormalities. [ABSTRACT FROM AUTHOR]

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OBJECTIVE: To review the literature concerning the efficacy of early ultrasonography (at 11-14 weeks of gestation) to identify fetal malformations. DATA SOURCES: A search in PubMed, MEDLINE, Embase, Cochrane Library, and ClinicalTrials.gov was performed (January 2000 to December 2012). Keywords were: fetal anatomy, fetal echocardiography, nuchal translucency, fetal structural anomalies, fetal malformations, prenatal diagnosis, prenatal screening, and first-trimester ultrasonography. METHODS OF STUDY SELECTION: Inclusion criteria were: fetal anatomy examination at early ultrasonography and diagnosis of fetal malformations confirmed by postnatal or postmortem examination. Data abstracted were: sample size, location of structural defect, ultrasound modality, presence of multiple defects, and study population. Pooled detection rate was calculated for each malformation and compared with χ² Differences were considered statistically significant if P<.05. TABULATION, INTEGRATION, AND RESULTS: Fro 1,203 articles, 19 were included. Overall, we pooled 78,002 fetuses undergoing ultrasonography at 11-14 weeks, of which 996 were malformed, leading to prevalence of malformation of 12 per 1,000. The overall detection rate was 472 of 957 (51%). The highest detection rate was achieved for neck anomalies (92%), whereas limbs (34%), face (34%), and genitourinary anomalies (34%) were associated with the lowest detection rate. At 14 weeks of gestation or less, fetal echocardiography detected 53% of congenital heart disease compared with 43% by complete scan (P=.040). The use of Doppler did not improve the detection rate for congenital heart defects (52% compared with 44%, respectively; P=.11). Multiple defects were identified more frequently than isolated malformations (60% compared with 44%; P=.005). The detection rate was higher combining transabdominal and transvaginal techniques (62%) than either abdominal (51%) or transvaginal (34%; P<.001). Detection rate was higher in women at high risk (65%) than unselected population (50% P=.001). CONCLUSION: Because of the natural history of fetal defects and the late development of some organ systems, a number of fetal malformations remain undetected by early ultrasonography. [ABSTRACT FROM AUTHOR]

The nuchal translucency is defined as a transient subcutaneous collection of fluid behind the fetal neck seen on ultrasonography at 11-14 weeks of gestation. In this current overview it was observed the relationship between increased nuchal translucency (NT) and fetal heart structure and function in chromosomally normal fetuses. Fetuses with an increases NT have an increased risk for congenital heart disease (CHD) and the combination between an increases NT, tricuspid regurgitation (TR) and an abnormal ductus venosus (DV) Doppler flow profile is a strong marker for CHD. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To assess the potential of first-trimester sonography in the detection of fetal abnormalities using an extended protocol that is achievable with reasonable resources of time, personnel and ultrasound equipment. Methods This was a prospective two-center 2-year study of 5472 consecutive unselected pregnant women examined at 12 to 13 + 6 gestational weeks. Women were examined using an extended morphogenetic ultrasound protocol that, in addition to the basic evaluation, involved a color Doppler cardiac sweep and identification of early contingent markers for major abnormalities. Results The prevalence of lethal and severe malformations was 1.39%. The first-trimester scan identified 40.6% of the cases detected overall and 76.3% of major structural defects. The first-trimester detection rate ( DR) for major congenital heart disease (either isolated or associated with extracardiac abnormalities) was 90% and that for major central nervous system anomalies was 69.5%. In fetuses with increased nuchal translucency ( NT), the first-trimester DR for major anomalies was 96%, and in fetuses with normal NT it was 66.7%. Most (67.1%) cases with major abnormalities presented with normal NT. Conclusions A detailed first-trimester anomaly scan using an extended protocol is an efficient screening method to detect major fetal structural abnormalities in low-risk pregnancies. It is feasible at 12 to 13 + 6 weeks with ultrasound equipment and personnel already used for routine first-trimester screening. Rate of detection of severe malformations is greater in early- than in mid-pregnancy and on postnatal evaluation. Early heart investigation could be improved by an extended protocol involving use of color Doppler. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Abstract: We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case. [Copyright &y& Elsevier]

Key content Congenital anomalies are the number one cause of infant mortality in the developed world. Antenatal diagnosis of lethal fetal abnormality is likely to have a profound psychological impact., The multidisciplinary team should aim to meet the medical, emotional and spiritual needs of the family, through appropriate referral in the latter aspect., Learning objectives To consider the psychological impact of an antenatal diagnosis of lethal fetal abnormality., To review the principles of informing parents about the diagnosis., To provide a framework for the management of a pregnancy involving a lethal fetal anomaly., To increase the awareness of the emotional and spiritual needs of the family., Ethical issues The dilemma of psychological impact of carrying a pregnancy with a lethal fetal anomaly for a mother and a family., The issues around care including feeding the liveborn baby with an anomaly. [ABSTRACT FROM AUTHOR]

Objectives To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray-based analysis (CMA) in the study of such pregnancies. Methods First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n=276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement. Results Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced. Conclusions In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. [ABSTRACT FROM AUTHOR]

Objectives: We analyze the incidence, etiology, outcome of pregnancy and therapeutic regimes of prenatally and postnatally detected isolated and complex congenital talipes equinovarus in a tertiary referral center. Methods: We included fetuses with at least one prenatal ultrasound examination conducted by a sub-specialized practitioner for prenatal medicine. Retrospective evaluation was made of prenatal, obstetrical and neonatal/pediatric records and where applicable pathological records or records of the involved department of pediatric surgery with a minimum follow-up of 24 months. Results: 106 children with uni- or bilateral CTEV were detected prenatally in a period of 17 years. There were 55 liveborn infants. The majority of the liveborn infants had isolated CTEV (37/55), whereas in the group of the stillborns most of the individuals suffered from complex CTEV (46/51). The gender-distribution showed a majority of male individuals in the liveborn group with isolated CTEV 22/37 and 11/18 in fetuses with non-isolated CTEV. Accordingly, 2/5 fetuses with isolated CTEV and 25/46 with complex CTEV in the group of the terminated pregnancies were males. 33/49 children were treated in a conservative manner, 16/49 needed additional surgery on the CTEV. Twenty-nine of forty-nine had excellent and 19/49 very good outcome. One of forty-nine had a good outcome. Fifteen of fifty-five liveborn children suffered from severe additional anomalies, like arthrogryposis multiplex congenita and spina bifida aperta. In the group of the stillborns all non-isolated CTEV were cases with severe additional anomalies (46/51). Mean time of prenatal diagnosis was 23 gestational weeks. Six cases with CTEV were detected postnatally only. There was one prenatal false positive diagnosis. Conclusions: Prenatal detection of CTEV is feasible during pregnancy. The outcome of children with isolated CTEV is good. In complex CTEV outcome depends on the additional anomalies the fetus has. In isolated CTEV fetal karyotyping should be offered; in complex CTEV fetal karyotyping is mandatory. The prenatal diagnosis of an (isolated) CTEV should always include an appropriate parental counseling together with pediatric orthopedics and pediatric surgeons. Repeated ultrasound scans can confirm diagnosis and reduce the risk of misjudgement of additional fetal anomalies as those may be frequently seen in fetuses with CTEV. [ABSTRACT FROM AUTHOR]

Objective: To evaluate a two-step screening protocol of ultrasound examinations (11-14 and 20-24 weeks) for the detection of major fetal structural defects. Methods: Retrospective study in a private maternity hospital. Women with viable singleton pregnancies having both first trimester scan and anomaly scan at our department and subsequently delivered at our hospital were included. Major fetal structural defects were defined as those requiring medical or surgical treatment or those causing mental handicap. Results: A total of 3,902 pregnancies included 61 fetuses with structural defects (1.56%). Twenty-six (42.6%) were diagnosed in the first trimester and 29 (47.5%) in the second. Six anomalies were detected in the third trimester or after birth. Overall detection rate of the two-step program was 90.2%. Conclusions: Detailed examination of fetal anatomy at 11-14 weeks resulted in the early diagnosis of about 40% of major structural defects [ABSTRACT FROM AUTHOR]

Fetal encephalocele, with high risk of mortality and morbidity, is one of the most serious congenital neural tube defects. Prenatal diagnosis of encephalocele is important in fetal medicine. In this study, we detected encephalocele using three-dimensional ultrasound (3D US). We reviewed our medical records of prenatal diagnosis of fetal encephalocele in National Cheng Kung University Hospital from May 2000 to November 2011. All the cases were scanned by two-dimensional and 3D US. In total, 10 cases of fetal encephalocele were diagnosed and enrolled for analysis. The range of gestational age at prenatal diagnosis by US was 12–27 weeks, and one case was diagnosed in the first trimester. Among them, 70% were occipital encephalocele, 10% frontal encephalocele, and 20% parietal encephalocele. Compared with previous studies, 3D US can detect fetal encephalocele early and provide additional vivid illustrations after various modes of reconstruction. In conclusion, 3D US may contribute to early detection of fetal encephalocele and provide visual depiction, thus, assisting substantially with prenatal diagnosis as well as genetic consultation. [ABSTRACT FROM AUTHOR]

Objectives To describe a cohort of fetuses with non-visualization of the cavum septi pellucidi (CSP) without callosal agenesis and to assess the significance of this finding with respect to postnatal development. Methods We reviewed the files of all patients referred because of suspected fetal supratentorial midline anomalies, and identified those fetuses with a diagnosis of non-visualization or obliteration of the CSP. Results From an initial cohort of 114 patients we identified 23 cases. Mean ( ± SD) gestational age at referral was 24.5 ± 1.3 weeks; referral diagnoses (with more than one in some cases) included: non-visualization or an echogenic CSP ( n = 18), suspected callosal anomaly ( n = 5), other findings ( n = 5). The fetuses were examined for the first time at the Fetal Neurology Clinic at a mean gestational age of 26.6 ± 3.1 weeks (range, 22-34 weeks; median, 27 weeks). In all of the fetuses the zone where fluid should have been observed was echogenic. In 17 fetuses this was an apparently isolated finding and in six it was associated with other findings, but only one fetus had associated malformations. Follow-up was available for 16 children at a mean age of 17.4 months (range, 4-36 months; median, 19.5 months). Normal development was reported in 14 children. One child had infantile hypotonia but normal developmental milestones and another had mild motor delay and language delay. These two children did not have associated anomalies at the prenatal scan. Conclusion Non-visualization of the CSP is not always associated with agenesis of the corpus callosum. When isolated it may be considered a variation of normal development. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination. [ABSTRACT FROM AUTHOR]

Background: Plasma DNA obtained from a pregnant woman contains a mixture of maternal and fetal DNA. The fetal DNA proportion in maternal plasma is relatively consistent as determined using polymorphic genetic markers across different chromosomes in euploid pregnancies. For aneuploid pregnancies, the observed fetal DNA proportion measured using polymorphic genetic markers for the aneuploid chromosome would be perturbed. In this study, we investigated the feasibility of analyzing single nucleotide polymorphisms using targeted massively parallel sequencing to detect such perturbations in mothers carrying trisomy 21 fetuses. Methodology/Principal Findings: DNA was extracted from plasma samples collected from fourteen pregnant women carrying singleton fetuses. Hybridization-based targeted sequencing was used to enrich 2 906 single nucleotide polymorphism loci on chr7, chr13, chr18 and chr21. Plasma DNA libraries with and without target enrichment were analyzed by massively parallel sequencing. Genomic DNA samples of both the mother and fetus for each case were genotyped by single nucleotide polymorphism microarray analysis. For the targeted regions, the mean sequencing depth of the enriched samples was 225-fold higher than that of the non-enriched samples. From the targeted sequencing data, the ratio between fetus-specific and shared alleles increased by approximately 2-fold on chr21 in the paternally-derived trisomy 21 case. In comparison, the ratio is decreased by approximately 11% on chr21 in the maternally-derived trisomy 21 cases but with much overlap with the ratio of the euploid cases. Computer simulation revealed the relationship between the fetal DNA proportion, the number of informative alleles and the depth of sequencing. Conclusions/Significance: Targeted massively parallel sequencing of single nucleotide polymorphism loci in maternal plasma DNA is a potential approach for trisomy 21 detection. However, the method appears to be less robust than approaches using non-polymorphism-based counting of sequence tags in plasma. [ABSTRACT FROM AUTHOR]

Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities. [ABSTRACT FROM AUTHOR]

Objective: to compare ultrasound (US) and autopsy findings of fetal malformations in second trimester terminations of pregnancy to evaluate the degree of agreement between US and fetal autopsy. Methods: in this study, all second trimester termination of pregnancy between 2003-2010 were considered. US and autopsy findings were compared and all cases were classified into five categories according to the degree of agreement between US and pathology (A1: full agreement between US and autopsy; A2: autopsy confirmed all US findings but revealed additional anomalies 'rarely detectable' prenatally; B: autopsy demonstrated all US findings but revealed additional anomalies 'detectable' prenatally; C: US findings were only partially demonstrated at fetal autopsy; D: total disagreement between US and autopsy). Results: 144 cases were selected. In 49% of cases there was total agreement between US and autopsy diagnosis (A1). In 22% of cases additional information were about anomalies 'not detectable' by US (A2). In 12% of cases autopsy provided additional information about anomalies not observed but 'detectable' by US (B). In 13% of cases some anomalies revealed at US, such as valve insufficiencies, pericardial and pleural effusions, were not verified at autopsy (C). Total lack of agreement was noted only in 4% of cases (D). Main areas of disagreement concerned cardiovascular, CNS and complex malformations. The degree of agreement was higher if malformations were diagnosed in a tertiary center. Conclusions: this study shows an overall high degree of agreement between definitive US and autopsy findings in second trimester termination of pregnancy for fetal malformations. Autopsy reveals to be the best tool to diagnose malformations and often showed other abnormalities of clinical importance not detected by US, but sometimes also US could provide additional information about functional anomalies because US is a dynamic examination. [ABSTRACT FROM AUTHOR]

Purpose To elucidate the structure of ethical dilemmas on the basis of the experiences of midwives involved in the care of women who were diagnosed with fetal abnormality during prenatal tests. Methods After ethical considerations were made, unstructured interviews were conducted on 8 midwives who had the aforementioned experiences; their "feelings," "perception," "thoughts," and "way of thinking" were extracted and analyzed qualitatively and inductively. Results Twenty-three concepts and 6 categories were extracted. In their relation with pregnant women, the midwives experienced actual dilemmas faced by healthcare providers, realized the difficulty of interventions in reproductive health, and "reaffirmed the position of midwives in organizations." In addition, inexperienced midwives lacked self-confidence and were confronted with their own sense of values and sense of ethics, and because of "the hardship and difficulty of involvement as primary care providers," they occasionally felt the limitations of nursing care. However, despite the burden caused by a shortage of human resources and problems within the system, the midwives found support in "the sense of satisfaction and sense of fulfillment that they get from being closely involved with mothers," and found a meaning in their involvement from the time of pregnancy. In addition, in some instances, they empathized with the pregnant women as if it were from the perspective of a family member, and built up, at an emotional level, the hopes regarding the vitality of the child. By starting to share time during pregnancy, the midwives were faced with "the difficulty of confronting a handicapped child because of their potentially biased sense of values," and therefore, doing so was an opportunity for them to confront their own sense of values. It also gave the midwives "an opportunity to reconsider the meaning of prenatal tests." Sharing time with pregnant women while experiencing dilemmas was an opportunity for them to explore the best ways to be helpful as midwives, and "continuing the relationship while sharing the death of a child" gave them an opportunity to mature themselves as midwives. Conclusion While deepening their relationship with pregnant women, the midwives experienced the difficulty to confront their own sense of values with issues such as the diagnosis of prenatal tests and handicapped children and experienced dilemmas associated with gender role expectations in consequence of the fact of belonging to the same sex as the pregnant women. Despite the feeling of satisfaction from being a reliable presence, the resulting hard and busy work created an environment prone to dilemmas and burnout. In addition, in their reproductive healthcare work environment, where life and death coexist side by side, they acted with self-defense by controlling their emotions and by lowering their sensibility to ethics. However, the dilemmas that the midwives experienced have been addressed as individual problems, and since there was no occasion to examine the ethical issues, which could only be experienced in clinical settings, this resulted in a vicious cycle. [ABSTRACT FROM AUTHOR]