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The 2017 clinical guidelines for obstetrical practice by the Japan Society of Obstetrics and Gynecology and the Japan Association of Obstetricians and Gynecologists were revised and published as the 2020 edition (in Japanese). The aim of these guidelines is to present appropriate standard obstetric diagnosis and management procedures that have reached consensus among Japanese obstetricians. The 2020 guidelines include 113 clinical questions and an appendix, followed by answers (CQ&A; originally 112 in the 2017 edition), a discussion, list of references, and some tables and figures presenting common problems and questions encountered in obstetrical practice. Each answer comes with a recommendation level of A, B, or C and has been prepared based principally on evidence or a consensus among Japanese obstetricians in situations where "evidence" is weak or lacking. Answers with a recommendation level of A or B represent current standard care practices in Japan. All 113 CQ&As and the appendix are presented here to promote a better understanding of the current standard care practices for pregnant and lactating women in Japan. [ABSTRACT FROM AUTHOR]

Background: Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder chiefly characterized by elongated and tortuosity of the large and medium sized arteries and anomalies of the vascular elastic fibers. Here we reported cases of brother about ATS from the same family on the prenatal ultrasound diagnosis. Reports of this case are rare in antenatally and we draw the vessel simulated diagram to display visually.Case Presentation: Prenatal ultrasound scanning at 29 weeks of gestation of the first fetus showed obvious tortuous and elongated of the aortic arch, ductus arteriosus, left and right pulmonary arteries, carotid and subclavian arteries. Three months after delivery, Contrast-enhanced computed tomography images (CTA) were performed to clearly display vascular abnormalities consistent with prenatal diagnosis of ultrasound. Whole exome sequencing (WES) was performed eight months after birth, two heterozygous variants of SLC2A10 gene was detected in newborn and their father and mother, respectively. Prenatal ultrasound scan at 22 weeks of gestation of the second fetus showed similar cardiovascular imaging. After birth the siblings have facial characteristic features gradually as aging. No surgical intervention was performed in the siblings follow up 19 months.Conclusions: The key points of prenatal ultrasound diagnosis of ATS are the elongation and tortuosity of the large and medium sized arteries. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. [ABSTRACT FROM AUTHOR]

Background: Ductus venosus (DV) abnormalities may be associated with intracardiac or extracardiac deformities, chromosomal anomalies, and/or congestive heart failure. Aberrant DV connecting with the coronary sinus (CS) is rare and the prenatal diagnosis presents challenges for most examiners.Case Presentation: A 35-year-old pregnant woman, gravida 2, para 1, was referred to our center at 27 gestational weeks for a full evaluation of fetal cardiac anomalies. Transverse scans indicated normal cardiac anatomy except for a dilated CS; we then scanned sagittal planes to clarify the reasons for the CS dilatation. High-definition flow imaging (HDFI) together with radiant flow (R-flow) imaging was used to delineate the aberrant DV returning to the CS, enabling the diagnosis. Three-dimensional (3D) technology was also used to obtain color-rendered images showing the spatial relationships of the vessels involved, thus confirming the two-dimensional (2D) diagnosis. Chromosomal analysis revealed a normal karyotype. The neonate appeared healthy and the echocardiogram showed a normal cardiac anatomy except for a dilated CS with the DV closed and imperceptible.Conclusions: The aberrant course of the DV returning to the CS was clearly demonstrable by traditional 2D echocardiography using HDFI and the R-flow technique. We deem it helpful to trace the inflow of the dilated CS to make the differential diagnosis. The 3D modality might also provide additional spatial information on the associated vessels and thereby assist in prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Background: Congenital megaduodenum is a rare disorder; however, its prenatal diagnosis has not been reported previously. We report the case of an abdominal cystic mass in a fetus that was later diagnosed as megaduodenum.Case Presentation: An abdominal cystic mass was found during ultrasonography of a fetus at 11 weeks of gestation. The mass progressively enlarged with gestation. The amniotic fluid volume decreased and then returned to normal. During the last prenatal ultrasound examination, the mass was observed communicating with the stomach; therefore, duodenal dilation was suspected. Finally, the patient was diagnosed with megaduodenum caused by a developmental defect in the nerve plexus.Conclusions: Congenital megaduodenum is a differential diagnosis of massive fetal abdominal cystic masses. Ultrasound examinations of such masses communicating with the stomach may help determine the diagnosis. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Primary foetal cardiac tumours are rare congenital malformations. They can cause a fl ow obstruction, arrhythmias and can lead to cardiac failure, hydrops or death. Postnatal management is based on patient's clinical and hemodynamic impairment. METHODS: We retrospectively reviewed data from 2009-2019 from our gynaecology clinic and also data regarding postnatal follow-up from our partner paediatric institution. RESULTS: In this period, we diagnosed six cases with foetal cardiac tumours. In four cases, multiple rhabdomyomas were present. Three patients did not have serious complications pre- or postnatally. In one case, tumours were obliterating both the infl ow and the outfl ow of the left ventricle. The child died at three months of age. Tuberous sclerosis was confi rmed in all the cases with rhabdomyomas. One child had a fi broma fi lling the left ventricle. Despite an uneventful prenatal period, the patient got postnatally symptomatic. Tumour was considered inoperable and the child died at the age of fi ve months. In one case a single right ventricular unspecifi ed tumour was diagnosed, without any complications. CONCLUSION: Prognosis closely depends on early diagnosis, clinical manifestations and the possibility of surgical tumour removal if necessary. In confi rmed rhabdomyomas, tests for tuberous sclerosis are mandatory (Tab. 1, Fig. 2, Ref. 18). [ABSTRACT FROM AUTHOR]

Background: An increasing number of techniques have been used for prenatal diagnosis of genetic abnormalities. Our initial objective was to explore the value of the BACs-on-Beads (BoBs) assay for the prenatal diagnosis of aneuploidies and microdeletion/microduplication syndromes in Quanzhou, Southeast China. Methods: A total of 1409 pregnant women with high-risk factors for chromosomal abnormalities admitted to Quanzhou Women's and Children's Hospital were enrolled in this study. BoBs assays and karyotype analyses were conducted for all subjects. Subsequently, chromosome microarray analysis (CMA) or fluorescence in situ hybridization (FISH) was performed to validate the findings. Results: In this study, karyotype analysis and BoBs assay failed in 4 cases, and 2 cases, respectively. A total of 1403 cases were successfully analyzed, with success rates of 99.72% (1405/1409) and 99.85% (1407/1409) for karyotype analysis and Bobs assay, respectively. BoBs assay rapidly detected chromosomal aneuploidies in line with the karyotyping data. Additionally, 23 cases of microdeletions/microduplications were detected by BoBs assay but missed by karyotyping, including 22q11.2 microdeletions/microduplications, 5p15.32p15.33 microdeletion, Xp22.31 microdeletions/microduplications, Xq27.3 microdeletion, and Yp11.2 and Yq11.22q11.222 microduplication. In comparison with karyotyping, fewer mosaicisms were identified by BoBs assay. A high detection rate of chromosomal abnormalities was observed in the high-risk group during noninvasive prenatal testing (NIPT) (41.72%) and the abnormal ultrasound group (13.43%). Conclusions: BoBs assay can be used for the rapid and efficient prenatal diagnosis of common aneuploidies and microdeletion/microduplication syndromes. Moreover, the combined use of BoBs assay and karyotyping in prenatal diagnosis may allow for a more effective detection of chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

Background: In the near future, developments in non-invasive prenatal testing (NIPT) may offer couples the opportunity to expand the range of genetic conditions tested with this technology. This possibility raises a host of ethical and social concerns, such as the type of information (medical vs. non-medical information) that couples might be exposed to and how this might complicate their informed decision-making. Currently, only limited research, mainly carried out in western countries, was conducted on women's and partners' views regarding the potential expansion of NIPT.Methods: This study used semi-structured interviews with pregnant women and their partners to explore their views on future potential NIPT applications such as non-medical sex selection and non-medical traits, paternity testing, and NIPT use for fetal whole genome sequencing (FWGS). It was conducted in Lebanon and Quebec, as case studies to explore the impact of cultural differences on these views.Results: We found no differences and many similarities when comparing the perceptions of participants in both contexts. While couples in both settings disapproved of the use of NIPT for non-medical sex selection and non-medical traits such as physical characteristics, they were near-unanimous about their support for its use for paternity testing in specific cases, such as legal doubts or conflicts related to the identity of the father. Participants were more ambivalent about NIPT for Fetal Whole Genome Sequencing. They supported this use to detect conditions that would express at birth or early childhood, while objecting to testing for adult-onset conditions.Conclusions: These results can further inform the debate on the future uses of NIPT and future policy related its implementation. [ABSTRACT FROM AUTHOR]

Objective: To evaluate maternal and neonatal outcomes among scheduled versus unscheduled deliveries in cases of prenatally diagnosed, pathologically proven placenta accreta.Study Design: Retrospective cohort of placenta accreta cases delivered in five University of California hospitals.Results: Of 151 cases of histopathologically proven placenta accreta, 82% were prenatally diagnosed. Sixty-seven percent of women underwent scheduled deliveries and 33% were unscheduled. There were no differences in demographics between groups except a higher rate of antepartum bleeding in the unscheduled delivery group (81 versus 53%; p = .003). Scheduled deliveries were associated with a later gestational age at delivery (34.6 versus 32.6 weeks; p = .001), lower blood loss (2.0 versus 2.5 l; p = .04), higher birth weight (2488 versus 2010 g; p < .001), shorter postpartum length of stay (4 versus 5 d; p = .03) and neonatal length of stay (12 versus 20 d; p = .005).Conclusion: Despite a prenatal diagnosis of placenta accreta, 1/3 of these cases require unscheduled delivery, portending poorer maternal and neonatal outcomes. [ABSTRACT FROM AUTHOR]

Introduction: Conjoined twins are an infrequent occurrence in obstetric practice. Live-conjoined twins on a late preterm triplet pregnancy is an even rarer event.Objective: The objective of this study is to emphasize the critical importance of perinatal palliative care and non-directive parental counseling, informed decision making and respect for autonomy following full disclosure of findings, fetal life-limiting diagnosis, treatment alternatives, maternal-fetal potential complications, and most likely perinatal outcomes.Methods: Early surprise prenatal diagnosis, comprehensive parental counseling, palliative care, and perinatal care of a set of conjoined twins and a singleton.Results: Cesarean delivery of a set of conjoined twins and a singleton at 34 weeks' gestation. Immediate neonatal death of the conjoined twins, intact survival, and discharge of the singleton. Review of the database on previously reported similar cases. It is very important to utilize simple and direct language for parents to understand the grave prognosis to the pregnancy. Care alternatives in view of the maternal physical risks and psychological impact of carrying a high order abnormal multiple pregnancy, along with the possible side effects on the singleton. [ABSTRACT FROM AUTHOR]

Background. Invasive placenta is a rare obstetrical pathology that is life-threatening to mother and child. It is important to diagnose this pathology as early as possible and to plan further optimal care of patients in order to minimize life-threatening complications. The aim of this study was to analyze the frequency of cases of invasive placenta, the peculiarities of their clinical manifestation in women who gave birth from 2006 to 2015, to evaluate diagnostic and treatment options of this pathology, and to review their changes when the level of services provided by the institution changes. Materials and methods. A retrospective study was performed of the ten-year period of 2006 to 2015. The study consisted of examining the data of medical records of a group of 14 women. Results. The incidence of invasive placenta at the secondary level hospital was 1/2170 births, 1:934 births at the tertiary level. There were only three patients (21.4%) diagnosed with invasive placenta during pregnancy at Vilnius University Hospital Santaros Klinikos Obstetrics and Gynaecology Centre. Before the surgery, pre-occlusive balloons were ushered into the internal iliac artery and inflated to reduce bleeding after the newborn delivery. The amount of blood loss in the whole group ranged from 1000 to 6500 ml (avg. 3130.7 ml). Radical treatment was given to eleven patients. Conclusion. Invasive placenta is a life-threatening condition. Tertiary- level hospitals have a greater capacity for antenatal diagnostics. Timely diagnosis of placental invasion and evaluation of the level of the myometrium damage before delivery is instrumental in planning patient care and preparing for delivery and operation. [ABSTRACT FROM AUTHOR]

Background: Prenatal detection of congenital malformations gives an opportunity to positively influence prenatal and postnatal management, survival and morbidity, as well as to allow parental choice and psychological preparation.Objective: To examine the available evidence regarding the impact of detection and underdetection of fetal anomalies as well as that of fetal therapy on neonatal outcome, parental psychological wellness and neonatal care organization.Methods: Literature search of PubMed.Results and Conclusions: The impact of prenatal diagnosis on neonatal survival and morbidity is dependent upon the type and severity of the anomalies inasmuch as upon the evaluation criteria chosen. We discuss the various pitfalls in the design of trials explaining why only few studies, targeting selected anomalies, have shown improved outcomes associated with prenatal diagnosis of congenital malformations. Fetal therapy applies mainly to conditions that are lethal either in utero or at birth if untreated before birth. It has rarely been evaluated with the highest level of evidence; this may be explained by a poor acceptability of randomization between prenatal intervention and expectancy up until delivery. [ABSTRACT FROM AUTHOR]

The article considers the benefits of contingent screening against primary screening by cell-free DNA testing. Topics discussed include non-invasive prenatal testing (NIPT) via cell-free DNA analysis, NIPT implementation in public-health-based programs, and the lack of evidence for additional perceived benefits of serum screening or nuchal translucency (NT) measurement.

In 2015 a sudden increase in the number of cases of microcephaly was reported in Brazil. At present, many sources suggest a connection between these cases and infection with the Zika virus. Although there have been several published case reports in which the Zika virus was found in affected women and their fetuses and newborns, the methodology used in diagnosis of many such cases is in doubt. The causal link between Zika infection and fetal anomaly has not been definitely, or even convincingly, demonstrated to date. The global campaign, aimed at improving the diagnosis, prevention, and possible treatment of Zika infection, was initiated on insubstantial evidence. Well-designed studies, rather than just case reports, will be necessary to confirm and demonstrate the actual link between maternal infection and fetal anomaly. Likewise, the exact risk of vertical transmission and its fetal effects must be conclusively demonstrated. That there is a threat posed to the fetus by maternal Zika infection is certainly a possibility, but while there is so little real evidence, coincidence or unjustified haste in jumping to conclusions might equally be at work. [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.)

Objective: To provide a basis for evaluating the prognosis of small left heart system development in fetuses, we analyzed its related factors.Methods: The fetal echocardiogram was performed in 3859 pregnant women, and then small left heart system development was identified in 69 fetuses. The data of prenatal and postnatal echocardiograms, postnatal cardiac surgical treatment, chromosome and autopsy after induced labor were analyzed in the 69 fetuses.Results: Except 1320 cases losing follow-up, 2539 cases had complete data. Among the 2539 cases, small left heart system development was identified in 69 fetuses. Of the 69 fetuses, 12 had hypoplastic left heart syndrome, 20 premature closure of foramen ovale, 13 total anomalous pulmonary venous drainage, 2 common pulmonary vein lumen atresia, 21 aortic coarctation or interruption and 1 right pulmonary hypoplasia. Among the 69 fetuses, chromosome abnormality was found in 7.Conclusion: There are many etiological factors causing small left heart system development. The prognosis is poor in the fetuses with hypoplastic left heart syndrome, common pulmonary vein lumen atresia, pulmonary hypoplasia, other malformations or/and chromosome abnormality. Fetal echocardiography combined with chromosome examination can provide important bases for making diagnosis and evaluating the prognosis regarding small left heart system development. [ABSTRACT FROM AUTHOR]

With the discovery of existing circulating cell-free fetal DNA (ccffDNA) in maternal plasma and the advent of next-generation sequencing (NGS) technology, there is substantial hope that prenatal diagnosis will become a predominately non-invasive process in the future. At the moment, non-invasive prenatal testing (NIPT) is available for high-risk pregnancies with significant better sensitivity and specificity than the other existing non-invasive methods (biochemical and ultrasonographical). Mainly it is performed by NGS methods in a few commercial labs worldwide. However, it is expected that many other labs will offer analogous services in the future in this fast-growing field with a multiplicity of in-house methods (e.g., epigenetic, etc.). Due to various limitations of the available methods and technologies that are explained in detail in this manuscript, NIPT has not become diagnostic yet and women may still need to undergo risky invasive procedures to verify a positive finding or to secure (or even expand) a negative one. Efforts have already started to make the NIPT technologies more accurate (even at the level of a complete fetal genome) and cheaper and thus more affordable, in order to become diagnostic screening tests for all pregnancies in the near future. [ABSTRACT FROM AUTHOR]

Pre-natal-diagnosis technologies allow parents to discover whether their child is likely to suffer from serious disability. One argument for state funding of access to such technologies is that doing so would be “cost-effective”, in the sense that the expected financial costs of such a programme would be outweighed by expected “benefits”, stemming from the births of fewer children with serious disabilities. This argument is extremely controversial. This paper argues that the argument may not be as unacceptable as is often assumed. In doing so, it sets out a more general framework for assessing the relevance of efficiency calculations to policy-making. The final section also investigates the relationship between the paper’s arguments and claims about parental responsibility for child-bearing and rearing, with reference to Scanlon’s work on “substantive responsibility”. [ABSTRACT FROM PUBLISHER]

ABSTRACT Objective To determine the incidence of temporal lobe dysplasia (TLD) detected on prenatal ultrasound in thanatophoric dysplasia (TD) over an 11-year period in a tertiary referral center. Methods An 11-year retrospective review of perinatal autopsies from 2002 to 2013 was performed to identify cases of TD. The ultrasound images and corresponding reports of all TD cases were examined for the presence of TLD. The same set of images subsequently underwent a retrospective review by a perinatal radiologist with knowledge of the features of TLD to determine whether they could be identified. Results Thirty-one cases of TD underwent perinatal autopsy, and prenatal ultrasound imaging was available for review in 24 (77%). Mean gestational age at diagnosis of TD was 21.3 (range, 18-36) weeks. TLD was identified and reported in 6/24 (25%) cases; all six cases occurred after 2007. Retrospective interpretation of the ultrasound images identified features of TLD in 10 additional cases. In total, 16/24 (67%) cases displayed sonographic evidence of TLD. Temporal trends showed that TLD features were present in 50% (5/10) of all TD cases between 2002 and 2006 and in 79% (11/14) of those detected between 2007 and 2013. Conclusions At present, the detection rate of TLD by ultrasound is low but may be increased by modified brain images that enhance visualization of the temporal lobes. Prenatal identification of TLD may help in the prenatal diagnosis of TD and thus provide more accurate prenatal counseling and guide molecular investigations to confirm the specific diagnosis of TD. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

The article offers information on a meeting of the Gemeinsame Bundesausschuss (G-BA) held on April 15, 2021 in Germany on non-invasive prenatal tests (NIPT) for trisomies on insured patients. It also reports on discussion on inclusion of information for the insured in the maternity guidelines in the meeting.

Copyright of Neurosciences is the property of Neurosciences 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.)

ABSTRACT Objectives To analyze literature on the additional value of fetal magnetic resonance imaging (MRI) in assessing central nervous system (CNS) anomalies suspected by ultrasound. Methods A search was performed of PubMed, EMBASE, Cochrane library and the reference lists of identified articles. Inclusion criteria were CNS anomalies suspected/diagnosed by ultrasound, MRI performed after ultrasound, and postmortem examination by autopsy or postnatal assessment. MOOSE guidelines were followed. Outcomes assessed were positive/negative agreement between ultrasound and MRI, additional information provided by MRI, and discordance between ultrasound and MRI. Pooled sensitivity and specificity of MRI were calculated using the DerSimonian-Laird method. Postnatal/postmortem examinations were used as the reference standard. Results We identified thirteen articles which included 710 fetuses undergoing both ultrasound and MRI. MRI confirmed ultrasound-positive findings in 65.4% of fetuses and provided additional information in 22.1%. MRI disclosed CNS anomalies in 18.4% of fetuses. In 2.0% of cases, ultrasound was more accurate than MRI. In 30% of fetuses, MRI was so different from ultrasound that the clinical management changed. Agreement was observed mainly for ventriculomegaly (51.3%). Disagreement was noted mainly for midline anomalies (48.6%). Pooled sensitivity of MRI was 97% (95% CI, 95-98%) and pooled specificity was 70% (95% CI, 58-81%). Conclusions MRI supplements the information provided by ultrasound. It should be considered in selected fetuses with CNS anomalies suspected on ultrasound. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To define imaging patterns of unilateral cerebellar hypoplasia ( UCH), discuss possible pathophysiological mechanisms and underline the etiology and prognosis associated with these lesions. Methods In this retrospective study we reviewed the charts of 26 fetuses diagnosed between 2003 and 2011 with UCH, defined by asymmetrical cerebellar hemispheres with or without decreased transverse cerebellar diameter. The review included analysis of the anatomy of the cerebellar hemispheres, including foliation, borders and parenchymal echogenicity, and of the severity of the hypoplasia. Data from clinical and biological work-up and follow-up were obtained. Results Our series could be divided into two groups according to whether imaging features changed progressively or remained constant during follow-up. In Group 1 ( n = 8), the progression of imaging features, echogenic cerebellar changes and/or hyposignal in T2*-weighted MR images were highly suggestive of ischemic/hemorrhagic insult. In Group 2 ( n = 18), imaging features remained constant during follow-up; UCH was associated with abnormal foliation in three proven cases of clastic lesions, a cystic lesion was noted in three cases of PHACE (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac abnormalities/aortic coarctation, eye abnormalities) syndrome and, in the remaining cases, UCH remained unchanged, with no imaging pattern typical of hemorrhage. In 24 cases the infant was liveborn and follow-up was continued in 23, for a mean period of 3 years. Among these, neurological complications were identified in seven (in one of seven (at a mean of 46 months) in Group 1 and in six of 16 (at a mean of 35 months) in Group 2). The surface loss of cerebellar hemisphere was > 50% in 19/24 fetuses and the vermis was clearly normal in appearance in 19/24. Predisposing factors for fetal vascular insult were identified in eight cases: these included maternal alcohol addiction, diabetes mellitus, congenital cytomegalovirus infection and pathological placenta with thrombotic vasculopathy and infarctions. Conclusion UCH is defined as a focal lesion of the cerebellum that may be secondary to hemorrhage and/or ischemic insult, suggesting a clastic origin, particularly when imaging follow-up reveals changes over time. UCH may also be a clue for the prenatal diagnosis of PHACE syndrome. The amount of surface loss of cerebellar hemisphere does not correlate with poor prognosis. UCH with normal vermis is often associated with normal outcome. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To develop a semi-automated method to assess puborectalis muscle echogenicity on three-dimensional/four-dimensional ( 3D/ 4D) volume transperineal ultrasound images using 4D View and Matlab® software and evaluate its intra- and interobserver reliability. Method The data of 23 women in their first trimester were included. 3D/ 4D volume datasets were obtained at rest. Two inexperienced observers were trained by an experienced observer to construct tomographic ultrasound images ( TUI) from the original data and to delineate all structures. Puborectalis muscle area ( PMA) and the mean echogenicity of the puborectalis muscle ( MEP) were calculated offline. Intra- and interobserver reliability were determined by intraclass correlation coefficients ( ICC) and their 95% CIs. Results The development of a semi-automated method to calculate puborectalis area and echogenicity is described in detail. PMA and MEP measurements in pregnant women demonstrated almost perfect intraobserver reliability for both inexperienced observers, with ICC values ranging from 0.88 to 0.99. The interobserver reliability showed ICCs of 0.63 for PMA and almost perfect ICC values, of 0.96-0.98, for echogenicity. The majority of intraobserver mismatch between two delineations of PMA occurred near the borders. Conclusions Matlab software can be used to provide reliable measurements of the area and echogenicity of the puborectalis muscle. As the latter can be used to assess structural changes in the puborectalis muscle, it appears a promising new tool for studying pelvic floor structural anatomy. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

IMPORTANCE Prenatal genetic testing guidelines recommend providing patients with detailed information to allow informed, preference-based screening and diagnostic testing decisions. The effect of implementing these guidelines is not well understood. OBJECTIVE To analyze the effect of a decision-support guide and elimination of financial barriers to testing on use of prenatal genetic testing and decision making among pregnant women of varying literacy and numeracy levels. DESIGN. SETTING, AND PARTICIPANTS Randomized trial conducted from 2010-2013 at prenatal clinics at 3 county hospitals, 1 community clinic, 1 academic center, and 3 medical centers of an integrated health care delivery system in the San Francisco Bay area. Participants were English- or Spanish-speaking women who had not yet undergone screening or diagnostic testing and remained pregnant at 11 weeks' gestation (n = 710). INTERVENTIONS A computerized, interactive decision-support guide and access to prenatal testing with no out-of-pocket expense (n = 357) or usual care as per current guidelines (n = 353). MAIN OUTCOMES AND MEASURES The primary outcome was invasive diagnostic test use, obtained via medical record review. Secondary outcomes included testing strategy undergone, and knowledge about testing, risk comprehension, and decisional conflict and regret at 24 to 36 weeks' gestation. results Women randomized to the intervention group, compared with those randomized to the control group, were less likely to have invasive diagnostic testing (5.9% vs 12.3%; odds ratio [OR], 0.45 [95% Cl, 0.25-.80]) and more likely to forgo testing altogether (25.6% vs 20.4%; OR, 3.30 [95% Cl, 1.43-7.64], reference group screening followed by invasive testing). Women randomized to the intervention group also had higher knowledge scores (9.4 vs 8.6 on a 15-point scale; mean group difference, 0.82 [95% Cl, 0.34-1.31]) and were more likely to correctly estimate the amniocentesis-related miscarriage risk (73.8% vs 59.0%; OR, 1.95 [95% Cl, 1.39-2.75]) and their estimated age-adjusted chance of carrying a fetus with trisomy 21 (58.7% vs 46.1%; OR, 1.66 [95% Cl, 1.22-2.28]). Significant differences did not emerge in decisional conflict or regret. [ABSTRACT FROM AUTHOR]

Objective: The diagnosis of fetal supraventricular tachycardia (SVT) which can be intermittent or continuous is established by 1:1 atrioventricular conduction in echocardiography, and heart rate between 220 and 240 bpm. We aimed to present a fetal SVT case characterized by the loss of variability and intermittent tachycardia attacks in non-stress test (NST). Case: The fetus at 32 weeks of gestation was diagnosed with SVT due to the loss of variability at NST, intermittent tachycardia attacks, 230 bpm at echocardiography and regular 1:1 AV conduction. Oral sotalol therapy was initiated to the mother. At the follow-up, spontaneous vaginal delivery was carried out at week 342/7. Upon observing SVT attack for five minutes at eight hour of the birth, oral digoxin therapy was initiated. No additional SVT attack was observed during 3 months of follow-up. Conclusion: Intermittent fetal SVTs may progress only by the loss of variability at NST during non-attack periods. We believe that it would be useful to follow-up cases closely who have normal biophysical profile except the loss of variability at NST in terms of fetal tachyarrhythmia. [ABSTRACT FROM AUTHOR]

Non-invasive prenatal testing (NIPT) refers to testing of cell-free fetal DNA in the maternal plasma, and is currently a rapidly evolving field. NIPT has recently become accepted as a screening test for certain aneuploidies, in particular Down syndrome (DS). NIPT testing is available in South Africa, although the genomic and bioinformatic processing of samples is performed elsewhere (most commonly the USA). Several different approaches to NIPT testing are available, each with specific advantages and disadvantages. They all have a high sensitivity and specificity for detection of DS, but may be less accurate for other aneuploidies. Even for DS, NIPT is not a diagnostic test: some cases of DS will be missed, and positive results must be confirmed with an invasive test. NIPT is indicated for screening for DS, especially in women at increased prior risk. Its role in testing for other aneuploidies, such as trisomy 13 or Turner syndrome, is less clear. NIPT is contraindicated where the fetus is at risk for a broader range of chromosome abnormalities - in this case invasive testing for karyotype should be offered. The availability of NIPT is limited mainly by cost and the fact that it is not a medical aid benefit - it is currently for those who can afford to pay for it out of pocket. In general an NIPT test can be performed from 10 weeks gestation, has a turn-around time of up to 2 weeks, and a failure rate of ~5%. Ideally, NIPT should be integrated into a broader Fetal Medicine service, and we present several options. NIPT should be offered in the context of genetic counselling. NIPT has potential value for O&G practices in more isolated geographical settings, but the practical and counselling pitfalls are significant. [ABSTRACT FROM AUTHOR]

The article offers information on next generation prenatal diagnosis, a method in genomic amnio sequencing and villous sampling. Topics discussed include the technical and ethical limits of prenatal diagnostic methodologies, clinical use of next generation sequencing (NGS) and final considerations with the use of NGS.

Objective: It is aimed to evaluate the chromosome analysis results of cases who undergone genetic amniocentesis for prenatal diagnosis. Methods: Amniocentesis indications, culture successes, karyotype results, screening ultrasounds and gestational prognoses of 311 amniocentesis cases referred to our perinatology clinic between November 2010 and April 2011 were evaluated retrospectively. Statistical analysis of the data was carried out by Predictive Analytics Software (PASW) package program. Results: The mean age and gestational week of the cases who had amniocentesis procedure were found to be 32.72±7.49 and 17.98±6.56, respectively. The mean pregnancy number was 2.46±1.45, the mean delivery number was 1.32±1.21, the mean delivery week was 38.24±1.32, and the mean newborn weight was 3131±113 g. Chromosomal anomaly rate was found as 5.8%, while fetal loss rate was 0.9%. It was found that the most frequent amniocentesis indication was the risk increase at triple test (29.9%). Cell culture was successful in all 311 cases, except two cases (99.3%). Conclusion: In this study, chromosomal anomaly rate was found as 5.8%. In our study, the increased risk at triple test was found as the most frequent amniocentesis indication. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To examine the feasibility of ultrasonographic imaging of fetal tympanic rings. Methods This was an observational cohort study of 80 healthy fetuses in low-risk pregnancies, divided into four gestational-age subgroups (12, 16, 23 and 32 weeks), each comprising 20 consecutive fetuses. Tympanic ring visualization was achieved by two-dimensional and three-dimensional ( 3D) sonography. A standard algorithm for tympanic ring examination was constructed using 3D multiplanar reconstruction. The volume acquisition plane was directed to the inferolateral aspect of the fetal temporal bone. Transvaginal scans were carried out in the 12-week and 16-week subgroups, and transabdominal scans in the 23-week and 32-week subgroups. Study parameters included the inferomedial inclination angle ( IMIA) of the tympanic ring relative to the vertical skull axis, the anteromedial inclination angle ( AMIA) of the tympanic ring relative to the anteroposterior skull axis and the longest ( LTRD) and shortest ( STRD) tympanic ring diameter, the latter measured perpendicular to the LTRD. The feasibility of tympanic ring demonstration was assessed in each gestational-age subgroup. Results Tympanic rings appeared as round-oval, thin, echogenic structures in a plane tangential to the inferolateral surface of the fetal skull below the inferior border of the squamous part of the temporal bone. Higher demonstration rates were achieved in the 16-week and 23-week subgroups (90% and 80%, respectively) than in the others. LTRD and STRD each showed a linear correlation with gestational age (r = 0.96 for both measurements; P < 0.01). Mean IMIA ranged from 41.0 to 60.4° and mean AMIA from 17.3 to 23.4° across the different gestational-age subgroups. The malleal manubrium was observed only in examinations in the second half of pregnancy, appearing as a bright echo within the upper area of the tympanic ring in 56% (9/16) and 82% (9/11) of cases with tympanic ring imaging appropriate for measurement of the study parameters in the 23-week and 32-week subgroups, respectively. Conclusion This is the first report of sonographic imaging of fetal tympanic rings and shows that this is feasible in the second trimester. We discuss the possible implications of our findings for the prenatal diagnosis of congenital hearing loss. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective The accuracy of prospective sonographic prenatal detection of invasive placentation is unclear. The objective of this study was to conduct a systematic review and meta-analysis to assess the performance of ultrasound in at-risk women for prenatal identification of invasive placentation. Methods MEDLINE, EMBASE, The Cochrane Database of Systematic Reviews, Database of Abstracts of Reviews of Effects (DARE) and The Cochrane Central Register of Controlled Trials (CENTRAL) were searched using the search terms 'placenta accreta', 'placenta increta', 'placenta percreta', 'ultrasound', 'magnetic resonance imaging (MRI)', 'invasive placenta' and 'infiltrative placenta'. Two authors independently abstracted data from the articles. Sensitivity, specificity, positive and negative likelihood ratios (LR+ and LR-), the diagnostic odds ratio (DOR) and their 95% CIs for each study were calculated. Forest plots and summary receiver-operating characteristics curves were produced. Between-study heterogeneity was explored both graphically and statistically. The MOOSE (meta-analysis of observational studies in epidemiology) guidelines were followed. Results Twenty-three studies involving 3707 pregnancies at risk for invasive placentation were included. The overall performance of ultrasound for the antenatal detection of invasive placentation was as follows: sensitivity, 90.72 (95% CI, 87.2-93.6)%; specificity, 96.94 (95% CI, 96.3-97.5)%; LR+, 11.01 (95% CI, 6.1-20.0); LR-, 0.16 (95% CI, 0.11-0.23); and DOR, 98.59 (95% CI, 48.8-199.0). Among the different ultrasound signs, color Doppler had the best predictive accuracy (sensitivity, 90.74 (95% CI, 85.2-94.7)%; specificity, 87.68 (95% CI, 84.6-90.4)%; LR+, 7.77 (95% CI, 3.3-18.4); LR-, 0.17 (95% CI, 0.10-0.29); and DOR, 69.02 (95% CI, 22.8-208.9)). Conclusions Ultrasound has a high accuracy for prenatal diagnosis of disorders of invasive placentation in high-risk women. The use of color Doppler improves the test performance. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. Methods: Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Abstract: Array-CGH or Chromosomal Microarray Analysis (CMA) is increasingly used in prenatal diagnosis throughout the world. However, routine practices are very different among centers and countries, regarding CMA indications, design and resolution of microarrays, notification and interpretation of Copy Number Alterations (CNA). We present our data and experience from our Fetal Medicine Center on 224 prospective prenatal diagnoses. Our approach is practical, and aims to propose a strategy to offer Chromosomal Microarray Analysis (CMA) to selected fetuses and to help to interpret CNA. We hope that this publication could encourage development of CMA in centers that have not started yet this activity in prenatal routine, and could contribute to edict guidelines in this field. [Copyright &y& Elsevier]

Copyright of Japanese Sociological Review / Shakaigaku Hyoron is the property of Japan Sociological Society 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.)

Abstract: Ultrasound screening has become an accepted part of antenatal practice despite limited evidence to support it. Although 18–20 weeks is the traditional time to screen for structural abnormalities, a number of abnormalities such as acrania and anterior abdominal wall defects can be detected with confidence as early as 11–14 weeks of gestation. The UK Fetal Anomaly Screening Programme (FASP) leads the creation of national guidelines to standardize the practice in the UK. Structural abnormalities can be isolated, or be associated with an underlying chromosomal abnormality or a genetic syndrome. Whilst parental expectations are high, antenatal ultrasound is a screening test and will have false negatives and positives. Antenatal detection rates are higher in countries with a national screening programme. Although 3D/4D ultrasound can generate an image that the parents can better relate to, the advantages over conventional ultrasound are limited. Fetal MRI plays an important complementary role in assessment of fetal brain abnormalities. Input from multiple specialities may be needed following antenatal detection of structural abnormality. Health professionals should provide appropriate information to the prospective parents but remain non-judgemental with their counselling. [Copyright &y& Elsevier]

Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high-risk for aneuploidies were offered invasive testing. New research is now focusing on non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. The advantage of this technique is the ability to reduce the risk of miscarriage associated with invasive diagnostic procedures. However, this new technique has its own set of technical limitations and ethical issues at present and careful consideration is required before broad implementation [ABSTRACT FROM AUTHOR]

Objectives To report on a series of 10 fetuses with pre-natally diagnosed isolated total anomalous pulmonary venous connection (TAPVC), focusing on echocardiography features leading to diagnosis, assess accuracy of prenatal diagnosis and describe postnatal outcome. Methods In this review of our experience of prenatal diagnosis of isolated TAPVC, we analyzed retrospectively medical records and fetal echocardiography findings in all cases with prenatal diagnosis of isolated TAPVC delivered between 1 January 2001 and 1 October 2011 at a tertiary referral center, paying special attention to echocardiography signs that led to referral. Results During the study period, 95 infants with isolated TAPVC were seen at the center. Initially, expert fetal echocardiography identified 14 fetuses with isolated TAPVC. Prenatal diagnosis was made at a mean gestational age of 31 (range, 25-37) weeks. Ten true-positive cases of TAPVC were confirmed after birth. The remaining four were considered false-positive cases: two had normal heart with left superior vena cava to coronary sinus, one had partial anomalous venous connection and one was lost to follow-up. Of the 85 diagnosed postnatally with TAPVC, only one had been seen prenatally by an expert cardiac sonographer. Echocardiography signs leading to referral were related to pulmonary venous connection in half of the cases. Other suspected defects which led to referral were ostium prium atrial defect (n = 3), left-right asymmetry (n = l), abnormal mitral valve (n = 1) and hepatic vascular malformation (n = 1). All infants with TAPVC underwent surgery. There was one postoperative death and nine survivors, with a mean follow-up of 31 (range, 2-104) months. Conclusion Petal diagnosis of isolated TAPVC is challenging even for experts. Echocardiographic anomalies may appear late in gestation. Hew tools should be proposed to identify abnormal venous drainage at the screening level [ABSTRACT FROM AUTHOR]

Background: Maternal mortality remains a leading cause of death among women of reproductive age. While Nigeria has only two percent of the global population, it contributes 10% to the global maternal mortality burden. Antenatal care (ANC) reduces the incidence of maternal mortality. However, financial capability affects access to antenatal care. Thus, the rural poor are at a higher risk of maternal mortality. Materials and Methods: A cross-sectional descriptive study involving 135 women (pregnant women and those who are 6 weeks postpartum). Structured interviewer-administered questionnaires were used for data collection. Data analysis was carried out using statistical package for social sciences software (version 17). Results: The average amount spent on booking and initial laboratory investigations were N77 (half a dollar) and N316 ($2), respectively. Per ANC visit, average amount spent on drugs and transportation were N229 ($1.5) and N139 ($0.9) respectively. For delivery, the average amount spent was N1500 ($9.6). On an average, ANC plus delivery cost about N3,365.00 ($22). There was a statistically significant association between husband's income and ANC attendance (X² = 2.451, df = 2, P = 0.048). Conclusion: Cost of Antenatal care and delivery services were not catastrophic but were a barrier to accessing antenatal care and facility-based delivery services in the study area. ANC attendance was associated with the income of household heads. Pro-poor policies and actions are needed to address this problem, as it will go a long way in reducing maternal mortality in this part of the country. [ABSTRACT FROM AUTHOR]

Maternal fetal medicine (MFM) is a subspecialty of obstetrics that focuses on identified risk pregnancies. The role includes obstetric ultrasound for fetal assessment and diagnosis of anomalies, invasive prenatal diagnosis and management of pregnancies complicated by maternal medical disorders, multiple fetuses and the antenatal management of extreme prematurity. Skill specialisation within MFM includes fetal interventions such as fetal shunting procedures, intrauterine transfusion, fetoscopic laser photocoagulation of anastomotic vessels for twin to twin transfusion syndrome and ex utero intrapartum treatment. MFM specialists are actively involved in clinical and basic science research to improve maternal and neonatal outcomes. Most Australian MFM specialists are associated with metropolitan teaching hospitals. MFM sub-specialisation has reduced the impact of disability associated with aneuploidy, structural anomalies, multiple pregnancy and extreme prematurity. Management aims are to give families timely counselling, appropriate intervention, and optimisation of the time and location of delivery. The aim of this paper is to update the reader regarding current advances in MFM practices. [ABSTRACT FROM AUTHOR]

Aim: To evaluate rates of early short-term neonatal complications among term singleton newborn infants with oligohydramnios. Methods: Retrospective data were collected on 456 term infants with prenatal diagnosis of oligohydramnios and on matched controls, including information on maternal condition and on infant perinatal complications. Results: Infants in the study group were born with lower birthweight and were SGA compared with those in the control group. Rates of renal malformations were significantly higher in the study group compared with the controls (15-3.3% and 3-0.7%, respectively; p = 0.007). Among the severe oligohydramnios subgroup (Amniotic Fluid Index <2), renal anomalies were even more prevalent compared to other infants with oligohydramnios and to the controls (6-9.8%, 9-2.3% and 3-0.7%, respectively; p < 0.001). The incidence of skeletal deformities (developmental dislocation of hip and torticollis) was higher among the study group. Conclusion: Term infants with oligohydramnios that was detected near birth are associated with a greater prevalence of renal malformations (mostly mild hydronephrosis) as well as congenital torticollis and developmental dislocated hips compared with controls. Postnatal renal evaluation should be considered in infants with severe oligohydramnios. [ABSTRACT FROM AUTHOR]

Copyright of Médicas UIS is the property of Universidad Industrial de Santander 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 article discusses the results of a study that evaluates the effect of antenatal corticosteroids on neonates after late-preterm birth. The study showed that women who received antenatal corticosteroids are more likely to give birth to infants who required ventilatory support compared to neonates born with mothers unexposed to corticosteroids. It concludes that subsequent late-preterm birth is not associated with antenatal corticosteroid exposure.

Background/Objectives: Non-invasive prenatal genetic diagnostic (NIPD) tests are being developed using cell-free fetal DNA in the maternal circulation. NIPD tests avoid or reduce the need for invasive diagnostic procedures for conditions like Down syndrome. Discussion of ethical and social implications of these techniques is increasing. We report findings from a study of public attitudes relevant to the introduction of NIPD. A key aim was to examine the range of attitudes relevant to NIPD within a diverse sample. Methods: Qualitative analysis of written free text 'first responses' to a written neutral description of NIPD as part of a Q-methodology study conducted with a purposive sample of the UK population (n = 71). Results: The majority (63%) of respondents described their first response as positive. However, respondents displayed ambivalence, expressing positive views of individual/medical rationale for NIPD and unease concerning public health rationale and societal implications. Unease related to eugenic reasoning underlying existing prenatal testing, 'too much control' in reproduction, commercial provision, information and support requirements for expanded testing, and limiting the use of testing. Conclusions: These findings suggest that regulating and monitoring commercial provision of NIPD services, and monitoring introduction and clinical use, are a public preference. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: To describe the diagnostic performance of array comparative genomic hybridization (aCGH) as a potential first line diagnostic method in first trimester high risk pregnancies. Method: In a retrospective study we performed aCGH using a targeted array BAC platform (Constitutional Chip® 4.0, PerkinElmer, Turku Finland, median resolution 600 kB) and the Affymetrix Cytogenetics® Whole Genome 2.7 M array (at a resolution of 400kB) on 100 anonymized prenatal samples from first trimester high risk pregnancies with normal conventional karyotype. We studied the technical feasibility and turn-around-time as well as the detection rate of pathogenic submicroscopic chromosome anomalies and CNVs of unknown significance. Results: We obtained results in 98 of 100 samples in 3 to a maximum of 5 days after DNA extraction. At the given resolution we did not identify any additional pathogenic CNVs but two CNVs of unknown significance in the chromosomal regions 1q21.1q21.2 (deletion) and 5p15.33 (duplication) (2%). Conclusion: In accordance with a growing number of reports this study supports the concept that aCGH at a resolution of 400-600kB may be used as a first line prenatal diagnostic test with high diagnostic safety and rapid turn-around time in high-risk first trimester pregnancies. Detection rate of CNVs of unknown significance, considered as a major hindrance for replacing conventional karyotyping by aCGH, is 2%, but the diagnosis of additional submicroscopic anomalies in this heterogeneous group of patients seems to be rare. [ABSTRACT FROM AUTHOR]

Objectives To establish the prevalence and antenatal diagnosis of schizencephaly in the UK. Methods Data on schizencephaly were extracted from six regional congenital anomaly registers. Results Thirty-eight cases of schizencephaly were identified in 2 567 165 livebirths and stillbirths, giving a total prevalence of 1.48/100 000 births (95% CI, 1.01-1.95). Eighteen (47% (95% CI, 31-63%)) of the 38 cases were identified antenatally. No affected fetus had an abnormal karyotype identified. A high proportion of cases of schizencephaly occurred in younger mothers: 63% were aged 24 years or less, significantly higher ( P < 0.0001) than the corresponding proportion (26%) of mothers in England and Wales. The majority of cases were not identified until after 22 weeks of pregnancy. Additional anomalies associated with vascular disruption sequences were found in eight cases which had septo-optic dysplasia or absent septum pellucidum, one of which also had gastroschisis. Conclusions Schizencephaly occurs more frequently in the fetuses of younger mothers. It is often associated with septo-optic dysplasia, suggesting that the two conditions may share a common origin, arising as a result of destructive processes that cause changes in the brain which only become apparent on ultrasound in the second half of pregnancy. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Fibrochondrogenesis is a rare, neonatally lethal osteochondrodysplasia, with autosomal recessive inheritance. It differs from other lethal dwarfisms in that it leads to broad, long-bone metaphyses (dumb-bell shaped) and pear-shaped vertebral bodies. We report a case of fibrochondrogenesis with severe pear-shaped platyspondyly, suspected antenatally, and give a comprehensive pictorial review of the antenatal ultrasound and postnatal radiographic findings. Only few cases of fibrochondrogenesis are diagnosed before the termination of pregnancy. [ABSTRACT FROM AUTHOR]

The article discusses a study on the role of nuchal translucency to detect fetuses at risk of B-thalassemia. NT test was conducted in all women referred to a center for prenatal diagnosis of B-thalassemia in the first trimester between April 2006 and December 2010 and a total of 55 pregnancies at risk of homozygous B-thalassemia were studied. The finding showed that NT in B-thalassemia affected fetuses were not different from a control population. It concludes that nuchal translucency of fetuses affected by homozygous B-thalassemia is not increased with respect to non-affected fetuses.

Persistent cloaco is the most severe type of anorectal malformation encountered in children. Patients with cloacal anomalies have a high incidence of associated anomalies most commonly: urinary tract and spinal. Persistent cloaca remains a difficult reconstructive challenge but it is now possible to anatomically correct the defect with surgery in the majority of patients. This review discusses embryology, prenatal diagnosis, neonatal physical and radiological findings. A summary of early management and investigation is provided and the commonest surgical reconstruction techniques are discussed. The main goals of surgical reconstruction are the achievement of bowel and bladder control for the child and normal sexual function in adult life. Although the majority of cloaca patients can achieve faecal and urinary continence with the surgical reconstructive procedures performed today, many require additional/multiple urological procedures to achieve continence, treat bladder dysfunction and to protect renal function. One half of patients will develop renal failure, so regular and life long surveillance is mandatory. Due to the high number of associated gynaecological problems all patients should be assessed by a paediatric gynaecologist at puberty. [ABSTRACT FROM AUTHOR]

Summary. Hemophilia A is an X-linked, inherited, bleeding disorder caused by the partial or total inactivity of the coagulation factor VIII (FVIII). Due to difficulties in the direct recognition of the disease-associated mutation in the F8 gene, indirect diagnosis using polymorphic markers located inside or close to the gene is used as an alternative for determining the segregation of the mutant gene within families and thus for detecting carrier individuals and/or assisting in prenatal diagnosis. This study characterizes the allelic and haplotype frequencies, genetic diversity, population differentiation and linkage disequilibrium of five microsatellites ( F8Int1, F8Int13, F8Int22, F8Int25.3 and IKBKG) in samples of healthy individuals from São Paulo, Rio Grande do Sul and Pernambuco and of patients from São Paulo with haemophilia A to determine the degree of informativeness of these microsatellites for diagnostic purposes. The interpopulational diversity parameters highlight the differences among the analyzed population samples. Regional differences in allelic frequencies must be taken into account when conducting indirect diagnosis of haemophilia A. With the exception of IKBKG, all of the microsatellites presented high heterozygosity levels. Using the markers described, diagnosis was possible in 10 of 11 families. The F8Int22, F8Int1, F8Int13, F8Int25.3 and IKBKG microsatellites were informative in seven, six, five and two of the cases, respectively, demonstrating the effectiveness of using these microsatellites in prenatal diagnosis and in carrier identification in the Brazilian population. [ABSTRACT FROM AUTHOR]

Prenatal screening strategies are undergoing rapid changes owing to the introduction of new testing techniques. The overall tendency is towards broadening the scope of prenatal testing through increasingly sensitive ultrasound scans and genome-wide molecular tests. In addition, non-invasive prenatal diagnosis is likely to be introduced in the near future. These developments raise important ethical questions concerning meaningful reproductive choice, the autonomy rights of future children, equity of access and the proportionality of testing. [ABSTRACT FROM AUTHOR]