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Introduction: The decision to terminate a pregnancy due to fetal anomalies can have a significant emotional impact, especially in second‐trimester terminations. Previous studies on the psychological consequences of pregnancy termination have had limitations, and little is known about the outcomes for partners and the impact of fetal donation. Therefore, we aimed to investigate the psychological effects of second‐trimester pregnancy termination and identify factors associated with outcomes in both women and men, including donation of fetal remains to science. Material and Methods: A longitudinal cohort study was conducted at the Amsterdam UMC in the Netherlands, involving women and partners who underwent termination at or before 23 weeks and 6 days of gestation. Questionnaires were administered at termination, 6 weeks, and 4 months after. We utilized validated questionnaires to assess psychological morbidity (grief, post‐traumatic stress and postnatal depression and quality of life [QoL]), and factors that could potentially influence outcomes. Results: Of 241 participants, women displayed more pronounced psychological distress than men, though both groups improved over time. Four months after termination, 27.4% of women and 9.1% of men showed signs of pathological grief. Scores indicative for postnatal depression occurred in 19.8% women and 4.1% of men. A prior psychiatric history was a consistent predictor of poorer outcomes. Fetal donation to the Dutch Fetal Biobank was associated with reduced likelihood of symptoms of complicated grief four months after termination. Conclusions: Second‐trimester termination of pregnancy for fetal anomalies can lead to psychological morbidity, particularly in women. However, there is a notable improvement over time for both groups. Individuals with prior psychiatric history appear more vulnerable post‐termination. Also, fetal donation to science did not have a negative impact on psychological well‐being. [ABSTRACT FROM AUTHOR]

Purpose Design Results Conclusions Comparison of intracytoplasmic sperm injection cycles with testicular sperm extraction in obstructive azoospermia and non‐obstructive azoospermia are limited, and few studies have addressed obstetric and neonatal outcomes.This study analyzed couples who underwent testicular sperm extraction–intracytoplasmic sperm injection cycles for obstructive azoospermia and non‐obstructive azoospermia to determine whether impaired spermatogenesis in non‐obstructive azoospermia patients would lead to worse reproductive outcomes and higher rates of pregnancy complications and fetal anomalies. This study is a retrospective, single‐center analysis of all testicular sperm cycles performed between January 1, 2001 and December 31, 2020.A total of 392 couples were considered in the study, leading to 1066 induction cycles, 620 (58.2%) from patients with obstructive azoospermia and 446 (41.8%) from non‐obstructive azoospermia. The cumulative delivery rate did not significantly differ between the two groups (34% vs. 31%; p = 0.326). The miscarriage rate was similar between obstructive azoospermia and non‐obstructive azoospermia patients. Fertilization rate instead showed a statistically significant difference (obstructive azoospermia: 66.1 ± 25.7 vs. non‐obstructive azoospermia: 56.1 ± 27.0; p < 0.001). The overall maternal complication rate in the non‐obstructive azoospermia group was higher (10.7% vs. 18.4%; p = 0.035), but there was no statistical significance for each pathology. There was no statistical difference in gestational age between the two groups for both single and twin pregnancies. Seven cases of congenital defects occurred in the obstructive azoospermia group, while two cases occurred in the non‐obstructive azoospermia group.Despite impaired spermatogenesis in non‐obstructive azoospermia patients, there were no substantial differences in reproductive outcomes compared to patients with obstructive azoospermia, even in terms of obstetric safety and neonatal well‐being. [ABSTRACT FROM AUTHOR]

Introduction: CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally. Method and Case Report: Trio‐whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG). Results: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke‐Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke‐Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra‐uterine growth retardation, brain, and cardiovascular anomalies. Conclusion: Menke‐Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke‐Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging. [ABSTRACT FROM AUTHOR]

The sonographic findings in four fetuses presenting with ventriculomegaly at first‐trimester ultrasound that were subsequently diagnosed as having agenesis of the corpus callosum (ACC) are described. The diagnosis of early ventriculomegaly was suspected subjectively by identification of increased cerebrospinal fluid within the lateral ventricles and confirmed by measuring choroid plexus‐to‐lateral ventricle length and area ratios. Subsequent scans revealed complete ACC in two cases and partial ACC in the other two. This report adds to the increasing evidence suggesting that first‐trimester ventriculomegaly is a strong sonographic marker of underlying brain anomalies, including less evident malformations such as ACC. Detailed second‐trimester fetal neurosonography in those women continuing their pregnancies should be performed. [ABSTRACT FROM AUTHOR]

Aim: We assessed the feasibility of the Birth and Parenting Planning (BPPing) program we developed to support women diagnosed with fetal anomalies. Methods: We conducted a feasibility study using a quasi‐experimental, post‐test only, non‐equivalent groups design. We assessed feasibility from four aspects: (1) Demand: birth plan submitting rate (primary outcome); (2) Acceptability: woman's satisfaction of care scale (SATISFACTION) and Visual Analog Scale for care satisfaction; (3) Preliminary efficacy: women's recognition of being able to express and share her hopes scale (HOPES); and (4) Safety: obstetric/neonatal outcomes and frequency of women's referral to a psychological counselor. Fisher's exact test and Mann–Whitney U‐test were used for data analysis. Results: We enrolled 62 women with fetal anomalies attending a perinatal medical center for antenatal check‐ups. Of these, 51 women (median age: 34 years) received either the BPPing program (intervention group: n = 25) or the usual care (control group: n = 26). The birth plan submitting rates were 96% (intervention group, 24/25) and 7.7% (control group, 2/26). The intervention group had a significantly higher total score on HOPES at postpartum (U = 441.5, p = 0.027). Upon subgroup analysis based on parity, in the intervention group only, the multiparas had a higher score on the SATISFACTION item, "I would recommend the care I received to someone in a similar situation". There were no adverse events in either group. Conclusion: The BPPing program was feasible in supporting women diagnosed with fetal anomalies in terms of demand, acceptability, preliminary efficacy, and safety. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results. Material and methods: In the period 2013‐2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for additional genetic counseling and opted for additional molecular testing pre‐ and/or postnatally. Most of the couples received only a targeted molecular test and in 159 cases (40.7%) whole exome sequencing (broad gene panels or open exome) was performed. The results of these molecular tests were evaluated retrospectively, regardless of the time of the genetic diagnosis (prenatal or postnatal). Results: In 76 of 391 fetuses (19.4%, 95% CI 15.8%‐23.6%) molecular testing provided a genetic diagnosis with identification of (likely) pathogenic variants. In the majority of cases (91.1%, 73/76) the (likely) pathogenic variant would be detected by prenatal whole exome sequencing analysis. Conclusions: Our retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate fetal anomaly detection in pregnancies with pregestational diabetes, according to the gestational age at the time of specialized sonography, use of follow‐up sonography, maternal body mass index, and organ system(s) involved. Methods: Women with pregestational diabetes who received prenatal care and delivered a live‐born or stillborn neonate at our hospital from October 2011 through April 2017 were ascertained. We included all pregnancies with at least 1 confirmed structural anomaly (EUROCAT classification) who had detailed sonography at 18 weeks' gestation or later. We analyzed detection of anomalous fetuses at the initial detailed sonogram and, if no abnormality was identified, during any follow‐up sonograms. Statistical analyses were performed with the χ2 test and Mantel‐Haenszel χ2 test for trend. Results: Seventy‐two anomalous neonates (72 of 1060 [6.8%]) were born. Overall detection was 55 of 72 (76%); 49 of 72 (68%) were detected at the initial detailed sonogram, compared to 6 of 15 (40%) of follow‐up examinations (P =.04). Recognition at the initial or follow‐up examination was not dependent on gestational age or body mass index category (all P >.05). Of individual organ system anomalies, 67 of 89 (75%) were identified. Detection exceeded 85% for central nervous system, genitourinary, and musculoskeletal abnormalities and 43% for craniofacial anomalies. Sixty‐five percent of cardiac anomalies were detected, and 14 of 17 (82%) requiring specialized care in the immediate neonatal period were recognized. Conclusions: Approximately three‐fourths of anomalous fetuses were identified, with greater detection at the initial detailed examination. Fetuses with central nervous system, genitourinary, musculoskeletal abnormalities and those with cardiac anomalies requiring specialized cardiac care were more likely to come to attention. [ABSTRACT FROM AUTHOR]

Introduction/Purpose: There are no large validation trials comparing teleultrasound to on‐site ultrasound. We aim to compare the sensitivity and accuracy of teleultrasound and demonstrate that teleultrasound is not inferior to on‐site ultrasound in the pre‐natal diagnosis of fetal anomalies. Methods: All targeted ultrasounds performed between November 2010 and December 2012 were considered. We excluded studies performed at less than 17 weeks' gestation, on multiple gestations and for reasons other than an anatomical survey. Post‐natal diagnoses were obtained from a state level mandatory birth defects surveillance programme. Descriptive statistics (sensitivity, specificity, positive and negative predictive values and accuracy) were calculated for both groups. A test of non‐inferiority was performed, with the non‐inferiority difference set at 0.15. Results: The teleultrasound and on‐site ultrasound groups consisted of 2368 and 3145 studies, respectively. The sensitivity of teleultrasound and on‐site ultrasound was 57.46% and 76.57%, and the accuracy was 95.9% and 90.97%, respectively. The observed sensitivity difference was −0.1911. The accuracy, specificity, positive and negative predictive values of teleultrasound are similar to on‐site ultrasound. Discussion: Teleultrasound is inferior to on‐site ultrasound in the detection of fetal anomalies; however, it has improved accuracy, as well as higher negative and positive predictive values. A negative teleultrasound is more likely to identify a non‐anomalous fetus, and a positive teleultrasound is more likely to correctly identify an anomalous fetus. Conclusion: Teleultrasound has an important role in pre‐natal diagnosis for those patients unable or unwilling to travel for an on‐site ultrasound. [ABSTRACT FROM AUTHOR]

Introduction: Our aim was to investigate the accuracy of postmortem fetal magnetic resonance imaging (MRI) compared with fetal autopsy in second trimester pregnancies terminated due to fetal anomalies. A secondary aim was to compare the MRI evaluations of two senior radiologists.Material and Methods: This was a prospective study including 34 fetuses from pregnancies terminated in the second trimester due to fetal anomalies. All women accepted a postmortem MRI and an autopsy of the fetus. Two senior radiologists performed independent evaluations of the MRI images. A senior pathologist performed the fetal autopsies. The degree of concordance between the MRI evaluations and the autopsy reports was estimated as well as the consensus between the radiologists.Results: Thirty-four fetuses were evaluated. Sixteen cases were associated with the central nervous system (CNS), five were musculoskeletal, one cardiovascular, one was associated with the urinary tract, and 11 cases had miscellaneous anomalies such as chromosomal aberrations, infections and syndromes. In the 16 cases related to the CNS, both radiologists reported all or some, including the most clinically significant anomalies in 15 (94%; CI 70%-100%) cases. In the 18 non-CNS cases, both radiologists reported all or some, including the most clinically significant anomalies in six (33%; CI 5%-85%) cases. In 21 cases (62%; CI 44%-78%), both radiologists held opinions that were consistent with the autopsy reports. The degree of agreement between the radiologists was high, with a Cohen's Kappa of 0.87.Conclusions: Postmortem fetal MRI can replace autopsy for second trimester fetuses with CNS anomalies. For non-CNS anomalies, the concordance is lower but postmortem MRI can still be of value when autopsy is not an option. [ABSTRACT FROM AUTHOR]

Objective: Virtual reality (VR) objects of fetal ultrasound volumes have been proposed for teaching and learning diagnostic ultrasound. The aim of this study was to determine if VR objects improve learning efficiency and retention of diagnostic ability in fetal ultrasound.Methods: Medical students and junior doctors were taught normal and abnormal sonographic fetal brain anatomy using conventional means (video lectures and review articles; control group) or additionally with selected VR objects from a novel fetal brain atlas (Pocket Brain, http://pb.fetal.ch; study group). Knowledge, speed of recognition and retention of diagnostic ability were tested in multiple-choice questionnaires 1 and 4 months after teaching, and the results were compared between those taught using conventional means only and those taught using VR objects.Results: Participants taught using VR objects answered significantly more questions correctly and solved the tests quicker than those taught using conventional methods only, both 1 and 4 months after teaching.Conclusion: The use of VR objects in teaching fetal ultrasound significantly improves learning efficiency and knowledge retention. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Whole exome sequencing (WES) for prenatal diagnosis has a reported diagnostic yield of 6.2%–57%. Our aim was to identify patients with a high likelihood of genetic diagnosis using WES in cases with fetal ultrasound anomalies. This is a series of five selected cases for prenatal WES at our institution. Pregnant couples were initially identified due to fetal ultrasound anomalies. Candidates for WES for fetal diagnosis had a normal fetal karyotype and negative microarray with at least one of the following: parental consanguinity, large regions of homozygosity on fetal microarray, or high likelihood of single gene disorder based on ultrasound findings. All trios underwent sequencing of parental and fetal samples. WES was diagnostic in four of the five cases (80%). We identified two recessive conditions and two de novo mutations. Four couples consented to secondary findings and in one case, the father was found to have an MSH2 mutation associated with Lynch syndrome. The use of specific selection criteria for WES increased diagnostic yield to 80%. This is higher than previously reported. Wide application of our criteria can help identify those who may benefit most from this testing in prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Objectives: To assess the performance of first‐trimester ultrasound (US) in identifying major fetal structural abnormalities in an unselected population. Methods: We conducted a retrospective analysis of all pregnancies that underwent the 11‐ to 14‐week scan in the Fetal Medicine Department of Filantropia Hospital in Bucharest, which were prospectively examined within our screening program. The purpose of the first‐trimester US was to evaluate the risk for chromosomal abnormalities and to conduct fetal anatomic examination using a detailed protocol. Results: Our population consisted of 7480 pregnant patients (7576 fetuses). The follow‐up was completed for 6045 patients (6114 fetuses). The prevalence of major structural anomalies was 1.89%. In the first trimester, we identified 79% of all major structural anomalies. The highest detection rates were achieved for abdominal wall defects (100%), major central nervous system anomalies (88%), cardiac defects (74%), and skeletal anomalies (71%). The nuchal translucency was increased in 35% of the cases with structural anomalies, and 95% of these were diagnosed in the first trimester. Seventy percent of the patients who presented with structural anomalies and a normal nuchal translucency were diagnosed in the first trimester. Conclusions: Our results emphasize the importance of performing a detailed US examination at 11 to 14 weeks' gestation in identification of fetal structural defects. [ABSTRACT FROM AUTHOR]

Prenatal genetic counselors are health care professionals who counsel women making reproductive decisions which include decisions such as terminating pregnancies due to fetal anomalies. Little is known about the experiences and practices of prenatal genetic counselors working with women who have the option of termination after 24 weeks gestation. In this national survey of 168 genetic counselors who have practiced prenatal genetic counseling, we asked about their general practice patterns, including indications for which termination is offered and types of abortion care services that are coordinated by genetic counselors. We report respondents’ self-assessments of level of understanding of federal abortion law and abortion procedures. Seventy-six percent of respondents have offered and counseled on termination after 24 weeks and 93% of respondents believe it is the responsibility of the counselor to discuss this option with patients. However, one-third report that they have some or no understanding of the procedures and three-quarters report that they have some or no understanding of federal abortion law. The results of this study provide insight into knowledge and experiences of genetic counselors working with these patients, allowing for improved genetic counselor training and continuing education to provide better guidance and develop more effective means of assisting patients. [ABSTRACT FROM AUTHOR]

Objectives: To introduce a new sonographic marker of intrathoracic liver herniation in fetuses with left-sided congenital diaphragmatic hernia (CDH).Methods: In a consecutive series of fetuses with isolated CDH, an ultrasound volume of the fetal abdomen was acquired. On this volume, offline calculation of the angle formed by the midline of the abdomen (joining the center of the vertebral body to the abdominal insertion of the umbilical cord) and a second line joining the center of the vertebral body to the intra-abdominal convexity of the umbilical vein was carried out to give the umbilical vein deviation angle (UVDA). The UVDA was measured in a group of normal fetuses selected as controls. At follow-up, the presence of liver herniation was investigated in all cases of CDH. UVDA values were compared between the CDH group and controls, and between CDH 'liver-up' vs 'liver-down' cases. A receiver-operating characteristics (ROC) curve was constructed to identify a cut-off value of the UVDA with the highest accuracy in predicting liver herniation in the CDH group.Results: Between 2009 and 2015, 22 cases of left-sided CDH were included in the study group, of which nine cases had liver herniation. Eighty-eight normal fetuses were recruited as controls. The UVDA was significantly higher in the cases vs controls (15.25 ± 7.91° vs 7.68 ± 1.55°; P < 0.0001). Moreover, the UVDA was significantly increased in CDH fetuses with liver-up vs liver-down (21.77 ± 8.79° vs 10.75 ± 2.10°; P < 0.0001). On ROC curve analysis the UVDA showed good prediction of liver herniation (area under the ROC curve, 0.94; P < 0.0001) with the best cut-off of 15.2°, yielding a sensitivity of 89% and a specificity of 100% (P < 0.0001).Conclusions: In fetuses with CDH, umbilical vein bowing may be quantified by measuring the UVDA using three-dimensional ultrasound. This sonographic marker seems to be an accurate predictor of liver herniation in left-sided CDH. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To determine the sensitivity and specificity of first-trimester ultrasound for the detection of fetal abnormalities and to establish which factors might impact on screening performance.Methods: A systematic review and meta-analysis of all relevant publications was performed to assess the diagnostic accuracy of two-dimensional transabdominal and transvaginal ultrasound in the detection of congenital fetal anomalies prior to 14 weeks' gestation. The reference standard was detection of abnormalities at birth or postmortem. Factors that may impact on detection rates were evaluated, including population characteristics, gestational age, healthcare setting, ultrasound modality, use of an anatomical checklist for detection of first-trimester anomalies and type of malformation included in the study. In an effort to reduce the impact of study heterogeneity on the results of the meta-analysis, data from the studies were analyzed within subgroups of major anomalies vs all types of anomaly and low-risk/unselected populations vs high-risk populations.Results: An electronic search (until 29 July 2015) identified 2225 relevant citations, from which a total of 30 studies, published between 1991 and 2014, were selected for inclusion. The pooled estimate for the detection of major abnormalities in low-risk or unselected populations (19 studies, 115 731 fetuses) was 46.10% (95% CI, 36.88-55.46%). The detection rate for all abnormalities in low-risk or unselected populations (14 studies, 97 976 fetuses) was 32.35% (95% CI, 22.45-43.12%), whereas in high-risk populations (six studies, 2841 fetuses) it was 61.18% (95% CI, 37.71-82.19%). Of the factors examined for their impact on detection rate, there was a statistically significant relationship (P < 0.0001) between the use of a standardized anatomical protocol during first-trimester anomaly screening and its sensitivity for the detection of fetal anomalies in all subgroups.Conclusions: Detection rates of first-trimester fetal anomalies ranged from 32% in low-risk groups to more than 60% in high-risk groups, demonstrating that first-trimester ultrasound has the potential to identify a large proportion of fetuses affected with structural anomalies. The use of a standardized anatomical protocol improves the sensitivity of first-trimester ultrasound screening for all anomalies and major anomalies in populations of varying risk. The development and introduction of international protocols with standard anatomical views should be undertaken in order to optimize first-trimester anomaly detection. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To assess the natural history and outcome of fetal pulmonary stenosis (PS), particularly that detected at 14-17 weeks' gestation.Methods: In this retrospective study we searched an electronic database of women from the general Israeli population attending a private ultrasound institute (Al-Kol ultrasound institute in Haifa) for routine complete early fetal ultrasound, including all fetal systems and a fetal echocardiogram, between 2004 and 2015. Ninety-seven percent of the women were at low risk of fetal malformations, and 3% had risk factors such as maternal Type-1 diabetes mellitus, exposure during pregnancy to teratogenic drugs, or anomalies in previous pregnancies or in other family members. At presentation at 14-17 weeks of gestation, color and pulsed Doppler imaging were performed across the four cardiac valves. We identified cases in which abnormal flow was detected, leading to suspicion of PS; in these cases, a follow-up examination was carried out at 17-19 weeks and then monthly until delivery or resolution of the finding, and postnatal echocardiography was performed at birth, 4-6 weeks thereafter, and yearly afterwards. Outcome data for suspicious cases, including postnatal diagnosis and general or specific symptoms, were collected by contacting the parents via email or telephone.Results: Among 24 185 early prenatal transvaginal ultrasound screening examinations, 23 cases of suspected PS were identified. They were classified into three groups, according to their ultrasound findings. In Group A (n = 8), the ultrasound screen was normal except for high flow velocity across the pulmonary valve. In six cases, this finding had resolved by 20-21 weeks of gestation and all were found to be normal at postnatal follow-up, one case underwent termination of pregnancy at 19 weeks and PS was confirmed at autopsy and one case was lost to follow-up. In Group B (n = 12), there was aliasing across the pulmonary valve. Two of these cases were normal postnatally and eight had mild-to-moderate PS; the remaining two cases developed hypoplastic right ventricle and pulmonary atresia at 19-20 weeks and the pregnancies were terminated. In Group C (n = 3) PS was associated with other anomalies; all three pregnancies were terminated. There were an additional six cases (Group D) not identified in early gestation, in which PS was late-onset. One had tricuspid regurgitation at the early screen, but was subsequently diagnosed with Ebstein's anomaly and pulmonary atresia, at 22 weeks, and was terminated. The other cases had completely normal early ultrasound screening examinations: one case had Ebstein's anomaly and PS was diagnosed at birth; four had isolated mild PS, of which one was diagnosed at 22 weeks' gestation and the other three were diagnosed postnatally, before 3 months of age. The sensitivity for detection of the ascertained cases of PS was 64% (11/17) and the specificity was > 99%.Conclusion: There is a diverse spectrum of presentation of fetal PS in the early mid-trimester. A possible explanation for this could be different pathophysiological pathways. Further study is needed to explain the different prenatal sonographic presentations in an unselected population. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To estimate the effect of maternal body mass index (BMI) on the completion of fetal anatomic surveys before 20 weeks' estimated gestational age (GA). Methods: We conducted a retrospective cohort study of singletons undergoing standard or detailed anatomic sonographic examinations from 2006 to 2014. Patients were categorized by ranges of BMI. The primary outcomes were completion of standard and detailed anatomic surveys before 20 weeks' estimated GA. The effect of the BMI category was assessed by the χ2 test for trends and analysis of variance. Results: Of 15,313 patients, 5917 (38%) were obese, and 1581 (10%) had a BMI of 40 kg/m2 or higher. Standard (P <.01) and detailed (P <.01) surveys were less likely to be completed as the BMI category increased. Suboptimal visualization of the fetal chest (P <.01), abdomen (P <.01), and extremities (P <.01) significantly contributed to the decreased standard survey completion rates. Suboptimal visualization of the fetal head (P <.01) and chest (P <.01) significantly contributed to the decreased detailed survey completion rates. There was no statistically significant difference in the sensitivity of a completed standard or detailed anatomic survey for the detection of fetal anomalies. Conclusions: An increasing BMI category was associated with decreased completion of standard and detailed anatomic surveys by 20 weeks' estimated GA. Strategies to improve early visualization of the fetal head, chest, and abdomen in obese women should be investigated to promote anomaly detection and appropriate counseling. [ABSTRACT FROM AUTHOR]

Objectives: Depiction of a thick corpus callosum (CC) in utero is rare, and is generally associated with severe brain anomalies. Our aim was to describe a group of fetuses diagnosed during second-trimester ultrasound examination as having an apparently isolated thick CC, which normalized subsequently in the cases followed to term.Methods: Among 59 fetuses referred to the Ob-Gyn Ultrasound Division of Lis Maternity Hospital with suspected callosal anomalies between January 2013 and June 2014, we identified nine cases with an apparently isolated thick CC for inclusion in this retrospective cohort study. Length and body thickness of the CC were compared with previously published nomograms. Fetuses with a suspected isolated thick CC were identified and followed until delivery or termination of pregnancy (TOP). Evaluation consisted of chromosomal analysis, at least one magnetic resonance imaging (MRI) examination and repeat ultrasound examinations. Postnatal evaluation included brain ultrasound examination, MRI when indicated and neurodevelopmental assessment through validated pediatric questionnaires.Results: The nine fetuses were diagnosed with an apparently isolated thick CC at a mean gestational age of 23 + 5 (range, 21-29) weeks. Eight exhibited a CC body thickness ≥ 2SD above the mean for gestational age and one exhibited only a thickened genu. Six also exhibited a relatively short CC. Two patients opted for TOP but declined autopsy. In five of the seven remaining fetuses, the CC thickness normalized during follow-up. In the remaining two, the increased CC thickness was a variant of the cingulate sulcus. The CC length remained ≤ 2SD in five of the six fetuses with a short CC. Fetal MRI was performed and confirmed the diagnosis in six fetuses. The karyotype was normal in all fetuses. Short-term neurodevelopmental outcome was reported as normal in all six children with complete follow-up.Conclusions: Although the number of fetuses in our study is relatively small, it seems that an apparently isolated thick CC is not necessarily associated with poor prognosis. In such cases, a definitive diagnosis should not be reached based on a single measurement and repeat follow-up examinations during the third trimester are recommended. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Aim The aim of this study was to explore the effects of prenatal fetal diagnoses of non-lethal anomalies on the psychological well-being of pregnant women throughout their pregnancy. Materials and Methods Fifty-five pregnant women were asked to complete a questionnaire (the Spielberger State- Trait Anxiety Inventory) to assess their anxiety levels at multiple follow-up visits. In-depth interviews were conducted with 20 pregnant women after completion of the questionnaire. Results We identified three stages of psychological distress. The intense negative psychological reaction stage was characterized by an intense psychological distress in response to the loss of an ideal child. The psychological healing stage was characterized by the emergence of coping mechanisms and a concomitant decrease in psychological distress. Finally, the intense negative psychological reaction re-emergence stage was characterized by an increase in psychological distress related to uncertainty regarding the future of the baby. Conclusions Following a prenatal diagnosis of a non-lethal anomaly, both the nature and the intensity of the psychological distress experienced by pregnant women change throughout the remainder of their pregnancy. Throughout the remainder of their pregnancy, these women should be offered effective psychological support that accounts for each of the distinct psychological response stages identified in this study. [ABSTRACT FROM AUTHOR]

Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn disorder of metabolism, which predominantly affects the nervous system. This report describes a case of PDHc deficiency with antenatal brain dysgenesis depicted in detail by fetal ultrasound and magnetic resonance imaging. This is the first case report clearly demonstrating the developing mechanism and time course of antenatal brain lesions in a patient with PDHc deficiency. © 2011 Wiley Periodicals,Inc. J Clin Ultrasound, 2011 [ABSTRACT FROM AUTHOR]

Uncontrolled diabetes mellitus (DM) is an etiological factor for recurrent pregnancy loss, fetal growth disorders, and major congenital malformations in the offspring. Antioxidant therapy has been advocated to overcome the oxidant–antioxidant disequilibrium inherent in diabetes. The objective of this article was to evaluate the beneficial effects of α-lipoic acid (LA) on fetal outcome in a mouse model of streptozotocin (STZ)-induced DM. Timed pregnant mice were made diabetic by intraperitoneal (IP) injection of a single dose of STZ (200 mg/kg) on gestation day (GD) 2. Diabetic animals were supplemented daily with an IP injection of 15 mg/kg of LA starting on GD 4 and continued through GD 12. Fetuses were examined on GD 18 for malformations and growth restriction. Some diabetic mice injected with Evans blue were examined on GD 3.5 and GD 6.5 to evaluate frequency of implantations. STZ-treated mice had all cardinal signs of DM. LA treatment did not normalize blood glucose levels of DM mice. Rates of pregnancy in saline control, DM, and DM + LA groups were 90%, 28%, and 64%, respectively, indicating that LA promotes pregnancy in DM animals. However, postimplantation resorption showed a threefold increase in the DM + LA group. Rates of intrauterine growth restriction and major congenital malformations were also augmented thus indicating that the interaction between DM and LA has deleterious effects on postimplantation embryos. [ABSTRACT FROM AUTHOR]

Objective To assess the diagnostic efficacy of the first-trimester anomaly scan including first-trimester fetal echocardiography as a screening procedure in a ‘medium-risk’ population. Methods In a prospective study, we evaluated 3094 consecutive fetuses with a crown—rump length (CRL) of 45-84 mm and gestational age between 11 + 0 and 13 + 6 weeks, using transabdominal and transvaginal ultrasonography. The majority of patients were referred without prior abnormal scan or increased nuchal translucency (NT) thickness, the median maternal age was, however, 35 (range, 15-46) years, and 53.8% of the mothers (1580/2936) were 35 years or older. This was therefore a self-selected population reflecting an increased percentage of older mothers opting for prenatal diagnosis. The follow-up rate was 92.7% (3117/3363). Results The prevalence of major abnormalities in 3094 fetuses was 2.8% (86/3094). The detection rate of major anomalies at the 11 + 0 to 13 + 6-week scan was 83.7% (72/86), 51.9% (14/27) for NT < 2.5 mm and 98.3% (58/59) for NT ⩾ 2.5 mm. The prevalence of major congenital heart defects (CHD) was 1.2 % (38/3094). The detection rate of major CHD at the 11 to 13 + 6-week scan was 84.2% (32/38), 37.5% (3/8) for NT > 2.5 mm and 96.7% (29/30) for NT ⩾ 2.5 mm. Conclusion The overall detection rate of fetal anomalies including fetal cardiac defects following a specialist scan at 11 + 0 to 13 + 6 weeks' gestation is about 84% and is increased when NT ⩾ 2.5 mm. This extends the possibilities of a first-trimester scan beyond risk assessment for fetal chromosomal defects. In experienced hands with adequate equipment, the majority of severe malformations as well as major CHD may be detected at the end of the first trimester, which offers parents the option of deciding early in pregnancy how to deal with fetuses affected by genetic or structural abnormalities without pressure of time. [ABSTRACT FROM AUTHOR]

We report two cases of multiple fetal anomalies detected by prenatal ultrasound and associated with subtle subtelomeric chromosomal rearrangements. The first case presented at 25 weeks of gestation with an enlarged cisterna magna and ventriculomegaly. Karyotyping of amniocytes showed a subtle terminal abnormality of chromosome 6q. Thereafter, screening of all unique chromosomal subtelomeric regions using a panel of telomere-specific, fluorescence in situ hybridization (FISH) probes revealed an unbalanced reciprocal translocation between 6q and 17p 146,XX.ish der(6)t(6;17)(q25.3;p13)(TelVysion6q-; TelVysion171)+)]. The second case presented at 25 weeks of gestation with tetralogy of Fallot and at 34 weeks of gestation had additional ultrasound findings of an arachnoid cyst and intrauterine growth restriction. Postnatal karyotyping of peripheral blood was performed and appeared normal. However, a cryptic deletion of the subtelomeric region of the long arm of chromosome 14 was identified when the infant's blood sample was used as a control for an oncology FISH probe. Thereafter, screening of all unique chromosomal subtelomeric regions using a panel of telomere-specific FISH probes revealed an unbalanced reciprocal translocation of chromosomes 14q and 20p [46,XY.ish der(14)t(14;20)(q32.3;p13)(IGH-, D14S308-,TelVysion20p+)mat]. These two cases add to a growing number of reports of cryptic subtelomeric chromosomal rearrangements associated with congenital anomalies. This is the first report of multiple, simultaneous FISH screening of the subtelomeric regions in amniotic fluid and has demonstrated the technical feasibility of this technique in the prenatal period. [ABSTRACT FROM AUTHOR]

To determine the additional information and clinical impact provided by three-dimensional ultrasound (3D US) imaging of fetal anomalies compared to conventional 2-dimensional ultrasound (2D US). Sixty-three patients with 103 anomalies were scanned prospectively with both 2D and 3D US. Each anomaly was reviewed by one or more fetal imaging specialists to determine whether the 3D US data were advantageous, equivalent, or disadvantageous when compared with 2D US images. Clinical impact and pathologic or clinical outcome were determined in all cases. The 3D US images provided additional information in 53 anomalies (51%), were equivalent to 2D US images in 46 anomalies (45%), and were disadvantageous in four anomalies (4%). The 3D US was most helpful in evaluating fetuses with facial anomalies, hand and foot abnormalities and axial spine and neural tube defects. Planar images derived from 3D US volume data sets generally were more helpful for diagnostic purposes, whereas rendered 3D US images were more useful as a point of reference and were better appreciated by patients in understanding fetal abnormalities. Additional information provided by 3D US images impacted clinical management in 5% of patients. The 3D US images were disadvantageous in two fetuses with multiple anomalies and two with cardiac anomalies. The 3D US offered diagnostic advantages in about one-half of the selected cases studied and had effect on patient management in 5% of cases. This modality can be a powerful adjunctive tool to 2D US in providing a more comprehensible, 3D US impression of congenital anomalies. Thus, 3D US is currently most helpful as a targeted study complementing 2D US. [ABSTRACT FROM AUTHOR]

To demonstrate that acoustic shadowing in 3D US may give rise to artifacts simulating limb defects and provide a solution to eliminate its occurrence. Twenty second trimester fetuses (gestational age 15–24 weeks) were scanned with three-dimensional ultrasound (3D US) using a sagittal acquisition plane. Fetal tibia/fibula and radius/ulna pairs were assessed for completeness of imaging. A further 20 fetuses (gestational age 20–26 weeks) were scanned in both axial and sagittal planes and the results compared to verify clear visualization of both bones. Shadowing from adjacent structures produced an apparent limb defect in 55% of the first 20 fetuses imaged only sagittally (18% of limb pairs). Acquiring data from more than one orientation avoided this artifact. The 3D US is subject to the same artifacts as two-dimensional (2D US) in terms of acoustic shadowing, although their presentation may be different. Awareness of this fact is essential for correct interpretation of 3D US studies. Three-dimensional scanning protocols should be modified to ensure that fetal structures are adequately visualized by acquiring volume data in more than one acquisition orientation. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To compare approval rates of late termination of pregnancy (LTOP) requests before and after a policy change in Israel in late 2007. Methods: In a retrospective study, LTOP requests and board decisions from 2002–2007 (group 1) were compared with those from 2007–2012 (group 2) at 3 university-affiliated medical centers in Israel. Reasons for application, approval, or rejection were compared between the groups. Results: There were 552 applications for LTOP. The overall approval rate for LTOP and the specific approval rate per medical indication did not differ significantly between the groups. The rate of requests due to confirmed genetic anomalies decreased from 18.4% in group 1 to 11.3% in group 2 (P =0.03). Compared with group 1, the rate of rejection for intrauterine infection increased from 8.3% to 26.3% (P =0.2), and that for pregnancy complications decreased from 62.5% to 35.0% (P =0.2) in group 2 but these differences were not statistically significant. Requests due to structural anomalies were declined because they were considered to be minor cardiac, renal, cerebral, or skeletal anomalies. Conclusion: The more stringent 2007 criteria for approving requests for LTOP did not affect the rate of rejection of requests due to structural anomalies between the 2 time periods. [Copyright &y& Elsevier]

The purpose of this study was to examine the clinical features of pregnancy complicated by polyhydramnios associated with fetal anomalies. Sixty-nine patients with a singleton pregnancy complicated by polyhydramnios were retrospectively analyzed. Based on prenatal ultrasonographic findings, 13 cases were considered to have idiopathic polyhydramnios and the remaining 56 cases were associated with fetal anomalies. Between these two groups, no significant difference was found in the gestational weeks when polyhydramnios developed. However, significant difference was noted in the maximum amniotic fluid index (AFI) values during the pregnancy period; 25.4 ± 2.7 cm in the former, and 30.6 ± 8.9 cm in the latter ( P = 0.0004). In all of 13 cases with idiopathic polyhydramnios, AFI values remained less than 30 cm until delivery. Twenty-two patients (39%) with fetal anomalies required a prenatal treatment such as amnioreduction and tocolysis, whereas only one patient (7.7%) with idiopathic polyhydramnios needed tocolysis therapy ( P = 0.03). There was a significant risk of premature delivery with fetal anomalies (35.6 ± 3.9 weeks’ gestation vs. 38.8 ± 1.5 weeks’ gestation, P = 0.004) because of refractory polyhydramnios, rupture of membranes, non-reassuring fetal status, and intrauterine fetal death, and although most infants with idiopathic polyhydramnios were appropriate-for-dates, many of the infants with congenital anomalies were small-for-dates. Significant risk of fetal anomalies should be considered in pregnant women with severe polyhydramnios (AFI ≥ 30 cm), an increased trend of amniotic fluid during the pregnancy period, polyhydramnios requiring a prenatal treatment, or fetal growth restriction. On the other hand, based on our experience, a fetus without these conditions seems to have a low risk of congenital anomalies even if polyhydramnios is noted. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate pregnancy outcome and early childhood of chromosomally normal fetuses with increased nuchal translucency at 10–14 weeks' gestation. A total of 63 chromosomally normal fetuses with a first-trimester nuchal translucency thickness of 3 mm or more were evaluated. In ongoing pregnancies, follow-up scans were performed to detect or exclude additional structural anomalies in the fetus. Follow-up of the live-born children was by questionnaires sent to parents or reviews of medical records. In 11 fetuses, additional structural anomalies were diagnosed at follow-up scans; in this group there were five terminations of pregnancy, two intrauterine deaths, two neonatal deaths and two survivors. In addition, there were two unexplained intrauterine deaths. The remaining 50 pregnancies resulted in live births and the parents were sent questionnaires on the follow-up of their children. Responses were received on 34 children at 7–75 months of age. Twenty-nine children are healthy and five showed various minor health problems not related to the presence of increased nuchal translucency. These findings suggest that chromosomally normal fetuses with first-trimester increased nuchal translucency and normal follow-up scans have a good prognosis for a normal early childhood. [ABSTRACT FROM AUTHOR]