Detection Of Fetal Anomalies Research Articles

Spectrum of Chromosomal Abnormalities Detected by Conventional Cytogenetic Analysis Following Invasive Prenatal Testing of Fetuses with Abnormal Ultrasound Scans.

The frequent association between malformations and chromosomal abnormalities is now well-established. This study looks at the incidence and type of chromosomal abnormalities detected by conventional cytogenetic analysis in women undergoing invasive tests following detection of fetal anomalies on antenatal scans as well as incidence of other genetic abnormalities detected by DNA analysis of fetuses with congenital anomalies that had a normal karyotype. A retrospective, observational study of pregnant women undergoing invasive testing following identification of fetal anomalies by ultrasonography was carried out in a tertiary care facility, Vellore, India, between 2011 and 2018. 169 women underwent an invasive diagnostic procedure following detection of fetal anomalies. The most common indication for doing fetal karyotype was the presence of major fetal structural anomalies (142/169, 84%) with over a third (48/142, 34%) having multisystem involvement. Fetal hydrops was the next most common indication, detected in 18/169 (10%) fetuses. Aneuploidy was seen 19 of 25 fetuses (76%) with an abnormal karyotype with autosomal aneuploidy accounting for 13 (68%) and sex chromosome aneuploidy for seven (37%) of the fetuses. One fetus had double aneuploidy. In fetuses with normal karyotype, no additional information was obtained from further genetic testing. The overall detection rate of chromosomal abnormalities in our study using conventional cytogenetic analysis was 14.8%, the majority (72%) being associated with structural malformations, 20% with non-immune hydrops and 4% with soft markers. Abnormal karyotypes were seen in 12.7% of fetuses with structural malformations.

Ultrasound Detection of Fetal Structural Anomalies during First Trimester Nuchal Translucency Scan in Conjunction with Traditional 18–22 Weeks Anomaly Scan

Ultrasound Detection of Fetal Structural Anomalies during First Trimester Nuchal Translucency Scan in Conjunction with Traditional 18–22 Weeks Anomaly Scan

Ultrasound markers of chromosome aberrations on routine second trimester screening

Second trimester ultrasound examination for risk assessment of chromosomal abnormalities remains an important component of prenatal evaluation. We have conducted a retrospective study to evaluate the efficiency of ultrasonographic screening for the markers of chromosomal aberrations and to classify ultrasonographic markers according to the aberration they were found with. Over a 10 year period we performed 620 karyotype analyses of fetal blood taken by cordocentesis after detection of fetal anomalies in a second trimester scan in unselected population and 216 samples of peripheral blood of neonates having phenotypic features suspected for chromosomopathies. Ultrasound examination and cytogenetic data were obtained from the laboratory database. Chromosomal abnormalities were found in 36 (5,8%) fetuses with anomalies. Most frequently chromosomal aberrations were detected in fetuses with multiple anomalies (13,3%), heart anomalies (11,5%), short femurs (12,5%) and polyhydramnios (7,7%). The success rate of sonographic examination in detection of Down syndrome was 85%, and in detection of sex chromosome trisomies 80%. Trisomy 18, trisomy 13 and polyploidy were found prenatally in 100% each. Nearly 42% of trisomy 21 fetuses had heart anomaly, 35,3% polyhydramnios and 17,7% short femurs. Trisomy 18 fetuses had polyhydramnios in 87,5%, CNS anomalies in 62,5% and symmetrical IUGR in 50% of cases. All of the fetuses with monosomy X had short femurs. Ultrasonographic evaluation is the most sensitive screening method for the identification of fetuses having a high risk rate for chromosomal abnormalities in a low risk population.

First-trimester ultrasound detection of fetal heart anomalies: systematic review and meta-analysis.

ABSTRACTObjectivesTo determine the diagnostic accuracy of ultrasound at 11–14 weeks' gestation in the detection of fetal cardiac abnormalities and to evaluate factors that impact the detection rate.MethodsThis was a systematic review of studies evaluating the diagnostic accuracy of ultrasound in the detection of fetal cardiac anomalies at 11–14 weeks' gestation, performed by two independent reviewers. An electronic search of four databases (MEDLINE, EMBASE, Web of Science Core Collection and The Cochrane Library) was conducted for studies published between January 1998 and July 2020. Prospective and retrospective studies evaluating pregnancies at any prior level of risk and in any healthcare setting were eligible for inclusion. The reference standard used was the detection of a cardiac abnormality on postnatal or postmortem examination. Data were extracted from the included studies to populate 2 × 2 tables. Meta‐analysis was performed using a random‐effects model in order to determine the performance of first‐trimester ultrasound in the detection of major cardiac abnormalities overall and of individual types of cardiac abnormality. Data were analyzed separately for high‐risk and non‐high‐risk populations. Preplanned secondary analyses were conducted in order to assess factors that may impact screening performance, including the imaging protocol used for cardiac assessment (including the use of color‐flow Doppler), ultrasound modality, year of publication and the index of sonographer suspicion at the time of the scan. Risk of bias and quality assessment were undertaken for all included studies using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS‐2) tool.ResultsThe electronic search yielded 4108 citations. Following review of titles and abstracts, 223 publications underwent full‐text review, of which 63 studies, reporting on 328 262 fetuses, were selected for inclusion in the meta‐analysis. In the non‐high‐risk population (45 studies, 306 872 fetuses), 1445 major cardiac anomalies were identified (prevalence, 0.41% (95% CI, 0.39–0.43%)). Of these, 767 were detected on first‐trimester ultrasound examination of the heart and 678 were not detected. First‐trimester ultrasound had a pooled sensitivity of 55.80% (95% CI, 45.87–65.50%), specificity of 99.98% (95% CI, 99.97–99.99%) and positive predictive value of 94.85% (95% CI, 91.63–97.32%) in the non‐high‐risk population. The cases diagnosed in the first trimester represented 63.67% (95% CI, 54.35–72.49%) of all antenatally diagnosed major cardiac abnormalities in the non‐high‐risk population. In the high‐risk population (18 studies, 21 390 fetuses), 480 major cardiac anomalies were identified (prevalence, 1.36% (95% CI, 1.20–1.52%)). Of these, 338 were detected on first‐trimester ultrasound examination and 142 were not detected. First‐trimester ultrasound had a pooled sensitivity of 67.74% (95% CI, 55.25–79.06%), specificity of 99.75% (95% CI, 99.47–99.92%) and positive predictive value of 94.22% (95% CI, 90.22–97.22%) in the high‐risk population. The cases diagnosed in the first trimester represented 79.86% (95% CI, 69.89–88.25%) of all antenatally diagnosed major cardiac abnormalities in the high‐risk population. The imaging protocol used for examination was found to have an important impact on screening performance in both populations (P < 0.0001), with a significantly higher detection rate observed in studies using at least one outflow‐tract view or color‐flow Doppler imaging (both P < 0.0001). Different types of cardiac anomaly were not equally amenable to detection on first‐trimester ultrasound.ConclusionsFirst‐trimester ultrasound examination of the fetal heart allows identification of over half of fetuses affected by major cardiac pathology. Future first‐trimester screening programs should follow structured anatomical assessment protocols and consider the introduction of outflow‐tract views and color‐flow Doppler imaging, as this would improve detection rates of fetal cardiac pathology. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Maternal Mental Health following Ultrasonographic Detection of Fetal Structural Anomaly in the Midst of the COVID-19 Pandemic.

Prenatal ultrasonographic detection of fetal structural anomaly may adversely affect maternal mental health throughout pregnancy, particularly in the current COVID-19 pandemic. This study aims to prospectively assess maternal stress, anxiety, and depression following ultrasonographic detection of fetal structural anomaly from diagnosis until delivery during the COVID-19 pandemic. A total of 141 pregnant women at a tertiary hospital who underwent detailed scans between 16 and 24 gestational weeks were included and categorized into the study (anomaly finding, n = 65) and comparison (normal finding, n = 76) groups. Self-administered questionnaires of 10-item Perceived Stress Scale (PSS-10) and Hospital Anxiety and Depression Scale (HADS) were used to assess maternal stress, anxiety, and depression at prior detection (T1), two-to-four weeks post-detection (T2), one-to-two weeks prior to delivery (T3), and one-to-two weeks post-delivery (T4). Repeated measures of analysis of variance (ANOVA) were conducted to assess time-, between-group, and time–group interaction effect. In general, maternal stress improved, but anxiety worsened, while depression persisted, over the time from T1 to T4. The average maternal stress and anxiety levels were significantly higher among groups with fetal anomaly. The maternal stress and anxiety level were significantly affected within one-to-two weeks post-detection of fetal structural anomaly. In conclusion, maternal mental health parameters were affected differently during the COVID-19 pandemic, with higher vulnerability of stress and anxiety among pregnant women with fetal structural anomaly particularly within one-to-two weeks post-detection.

Prevalence Rate of Congenital Fetal Malformations in Second Trimester by Ultrasound Scanning in Zagazig University Outpatient Clinic

Background: All pregnancies are at a risk of producing congenital malformations, though only some of them are at a greater risk. Congenital anomalies its problem in which abnormalities of structure, function or body metabolism resulting in physical or mental disability or it may be fatal. Objective: This study aimed for early detection of major fetal anomalies to improve fetal and maternal outcome. Patients and methods: This cross-sectional study that include 422 pregnant females was carried out at the Ultrasound Unit and Obstetrics & Gynecology Department, Faculty of Medicine, Zagazig University during the period from December 2018 to July 2019. Results: Ultrasonography can identify at least 35-50% of major fetal malformations with a specificity of 90-100%. Though other methods of screening like biochemical markers and karyotyping are available, ultrasonography has the advantage of being non- invasive, safe, fast, accurate and reproducible with real time display, causing no discomfort to the patient at any time of gestation. Conclusions: The Prevalence of congenital fetal malformations (CFMF) among the study participants using ultrasonography scanning was 3.6%. The most prevalent anomalies were Hydrops fetalis and CVS anomalies. Therefore screening for congenital anomalies in obstetric sonography is an important component of primary healthcare for maternal and child health.

A category attention instance segmentation network for four cardiac chambers segmentation in fetal echocardiography

Fetal echocardiography is an essential and comprehensive examination technique for the detection of fetal heart anomalies. Accurate cardiac chambers segmentation can assist cardiologists to analyze cardiac morphology and facilitate heart disease diagnosis. Previous research mainly focused on the segmentation of single cardiac chambers, such as left ventricle (LV) segmentation or left atrium (LA) segmentation. We propose a generic framework based on instance segmentation to segment the four cardiac chambers accurately and simultaneously. The proposed Category Attention Instance Segmentation Network (CA-ISNet) has three branches: a category branch for predicting the semantic category, a mask branch for segmenting the cardiac chambers, and a category attention branch for learning category information of instances. The category attention branch is used to correct instance misclassification of the category branch. In our collected dataset, which contains echocardiography images with four-chamber views of 319 fetuses, experimental results show our method can achieve superior segmentation performance against state-of-the-art methods. Specifically, using fivefold cross-validation, our model achieves Dice coefficients of 0.7956, 0.7619, 0.8199, 0.7470 for the four cardiac chambers, and with an average precision of 45.64%.

Accuracy of the mid-trimester ultrasound scan in the detection of fetal congenital anomalies in a reference center in Northeastern Brazil

ObjectiveTo assess the performance of a basic mid-trimester fetal ultrasound scan protocol for the diagnosis of congenital anomalies by calculating its accuracy, sensitivity, and specificity. MethodsThis longitudinal cohort study involved singleton pregnant women recruited at the mid-trimester fetal ultrasound scan through the postnatal evaluation of congenital anomalies. Pregnant women who underwent a routine mid-trimester ultrasound scan for fetal abnormalities at 20–24 weeks of gestation were enrolled in this study. After childbirth, we searched their medical records on gestational outcomes and neonatal examination records, as well as complementary medical examinations, to assess the ultrasound performance in diagnosing congenital malformations. ResultsWe included 967 pregnant women in the study population, and prenatal ultrasound scans detected congenital abnormalities in 67 fetuses (6.9%). Among newborns, 54 (5.6%) were postnatally diagnosed with malformations. The overall sensitivity and specificity of the mid-trimester ultrasound scan for congenital malformation detection were 61.1% and 96.3%, respectively, with an accuracy of 94.3% (p < .05). ConclusionThe mid-trimester ultrasound scan had good accuracy in the detection of congenital malformations, although the overall sensitivity does not support it as the only screening test for anomalies throughout pregnancy.

Crown-Rump Length Discordance, Increased Nuchal Translucency, and Detection of Fetal Structural Anomalies in Twin Pregnancies in the First Trimester: 5 Years of Experience in a Tertiary Hospital in China.

To evaluate the efficacy of the first-trimester ultrasound scan in the detection of fetal structural anomalies in twin pregnancies. To examine the association between increased nuchal translucency (NT) thickness, crown-rump length (CRL) or NT discordance, and detection of structural anomalies in a large twin series in China. We performed retrospective analysis of twin pregnancies who underwent 11-13+6 -week and second-trimester anomaly scan and booked at Beijing Obstetrics and Gynecology Hospital between January 2012 and December 2016. Measurement of fetal CRL/NT and assessment of fetal anatomic structures were based on standard (not detailed) protocols. Conjoined twins and twin-reversed arterial perfusion sequence (TRAPS) were excluded from structural anomalies. The diagnostic performance of first-trimester ultrasound in detection of fetal structural anomalies in twins was determined and compared with that of second trimester. The accuracy of independent variates associated with structural anomaly detection was calculated. A total of 1442 women with twin pregnancies were included. In 40 women and 45 fetuses, structural anomalies were found. Fetal structural anomalies verified at delivery were detected in 42.5% (17/40) of affected pregnancies in the first trimester and 92.5% (37/40) of affected pregnancies when added second trimester (P=.13). The survival rate of pregnancies detected in second trimester was higher than that of pregnancies detected in first trimester (11.8% vs 65.2%). The mean value of intertwin CRL/NT discordance in cases with fetal structural anomalies was larger in monochorionic twins than dichorionic twins, but monochorionicity was not associated with structural anomalies. CRL discordance ≥10% (OR 3.1, 95%CI 1.5-6.3) and NT ≥95th centile (OR 20.0, 95%CI 9.0-44.2) were associated with fetal structural anomalies. In both dichorionic (DC) and monochorionic (MC) twins, the percentages of CRL discordance ≥10% was larger in twins with structural anomalies than those without structural anomalies (37.5% vs 13.4% in DC twins and 50.0% vs 12.5% in MC twins), and this was also true for NT ≥95th centile (31.3% vs 1.7% in DC twins and 37.5% vs 2.2% in MC twins). In the setting of CRL discordance ≥10%, 40.0% (16/40) of twins with structural anomalies were found, in which the predominant fetal structural anomalies were cardiovascular defects, abdominal wall defects, and central nervous system defects. The AUC for detecting structural anomalies by CRL discordance ≥10% was 0.63. In the setting of NT ≥95th centile, 32.5% (13/40) of twins with structural anomalies were found, in which the predominant fetal structural anomalies were cardiovascular defects, cystic hygroma, and abdominal wall defects. The AUC for detecting structural anomalies by NT ≥95th centile was 0.65. The detection rate of twins with fetal structural anomalies was 42.5% per pregnancy in the first trimester. CRL discordance ≥10% and NT ≥95th centile may indicate higher risk of fetal structural anomalies in twins, but their efficacy was limited.

Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies.

Noninvasive prenatal tests (NIPTs) detect fetal chromosomal anomalies with high clinical sensitivity and specificity. We examined the performance of a paired-end sequencing-based NIPT in the detection of genome-wide fetal chromosomal anomalies including common trisomies, sex chromosomal aneuploidies (SCA), rare autosomal aneuploidies (RAAs), and partial deletions/duplications ≥7 Mb. Frozen plasma samples from pregnant women were tested using the VeriSeq NIPT Solution v2 assay. All samples were previously tested with a laboratory-developed NIPT and had known clinical outcomes. Individuals performing the sequencing were blinded to clinical outcome data. Clinical sensitivity and specificity were determined for basic (chromosomes 21, 18, 13, X, and Y) and genome-wide screening modes. Of 2335 samples that underwent genome-wide analysis, 28 did not meet QC requirements, resulting in a first-pass assay failure rate of 1.2%. Basic screening analysis, excluding known mosaics, correctly classified 130/130 trisomy 21 samples (sensitivity >99.9%, 95% confidence interval [CI] 97.1%-100%), 41/41 trisomy 18 samples (sensitivity >99.9%, 95% CI 91.4%-100%), and 26/26 trisomy 13 samples (sensitivity >99.9%, 95% CI 87.1%-100%) with 6 false-positive results; specificities ≥99.90% were reported for all 3 trisomies. Concordance for SCAs ranged from 90.5%-100%. Genome-wide screening analysis including known mosaics correctly classified 27/28 RAAs and 20/27 partial deletions/duplications with a specificity of 99.80% for both anomalies, and an overall genome-wide specificity for all anomalies of 99.34%. The VeriSeq NIPT Solution v2 assay enables accurate identification of fetal aneuploidy, allowing detection of genome-wide fetal chromosomal anomalies with high clinical sensitivities and specificities and a low assay failure rate.Clinical Trial Notification [CTN] identification number [ID]: CT-2018-CTN-01585-1 v1, Protocol: NIPT T05 002.

Effectiveness of non-invasive prenatal screening for the detection of fetal sex chromosome anomalies

To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies. A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained. Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion. NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.

The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing

Introduction: The sequencing-based noninvasive prenatal testing (NIPT) has been successfully integrated into clinical practice and facilitated the early detection of fetal chromosomal anomalies. However, a comprehensive reference material to evaluate and quality control NIPT services from different NIPT providers remains unavailable. Methods: In this study, we established a set of NIPT reference material consisting of 192 simulated samples. Most of the potential factors influencing the accuracy of NIPT, such as fetal fraction, mosaicism, and interfering substances, were included in the reference material. We compared the performance of chromosomal abnormalities detection on 3 widely used sequencers (NextSeq 500, BGISEQ-500, and Ion Proton) based on the reference material. Results: All 3 sequencers provided highly accurate and reliable results to samples with ≥3.5% fetal fractions and high percentage of mosaicism. Conclusions: The established reference material can serve as a universal standard quality control for the current and new-coming NIPT providers based on various sequencers.

Application of chromosomal microarray analysis in prenatal diagnosis of pregnant women with advanced age

To assess the value of chromosomal microarray analysis (CMA) for the detection of fetal anomalies among pregnant women with advanced age. CMA results of 562 cases, in addition with the outcome of pregnancy and neonatal follow-up were reviewed. Among the 562 amniotic fluid samples, 73 cases (12.99%) of fetal chromosomal abnormalities were detected, which included 21 cases (3.73%) of chromosomal aneuploidies and 52 cases (9.25%) of copy number variations (CNVs). The latters included 27 cases of pathological CNVs (4.80%), 4 cases of possible pathogenic CNVs (0.71%) and 42 cases of variants with unknown clinical significance (7.47%). Compared with those under 35, the detection rate of fetal chromosomal aneuploidies for women with advanced age was higher under the indications of voluntary test, abnormal ultrasonic structures, abnormal ultrasonic soft index and risks indicated by non-invasive prenatal testing (NIPT). No significant difference was found in the detection rate of CNVs between those ≥35 and <35 and between those with age factor only and with additional indications (P> 0.05). 552 cases (98.22%) of pregnant women have completed the followed up. Among 31 women with pathological and possible pathogenic fetal CNVs detected by CMA, 25 had terminated the pregnancy, 6 (19.35%) have delivered without obvious abnormality. 41 pregnant women with fetal CNVs of unknown clinical significance have completed the follow up, among whom 3 had terminated the pregnancy, 1 newborn was found with malformation after birth, which yielded an abnormal pregnancy rate of 9.76%. 480 pregnant women with negative CMA results have completed the follow up, among whom 5 (1.04%) had abnormal pregnancy or delivered a child with birth defect. There is a certain difference between the outcome of pregnancy predicted by CMA testing and the actual outcome. The pregnancies with fetal CNVs with unknown clinical significance detected by CMA have a high adverse rate, which should attract clinical attention. CMA testing should be recommended for pregnant women with advanced age regardless of whether they have other symptoms. CMA combined with other detection methods is the trend for prenatal diagnosis.

Sonographic abnormalities in pregnancies conceived following IVF with and without preimplantation genetic testing for aneuploidy (PGT-A)

PurposeTo report the rate of fetal anomalies detected on anatomy ultrasound in pregnant patients who underwent IVF with preimplantation genetic testing for aneuploidy (PGT-A) compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions.MethodsRetrospective cohort study at a single maternal-fetal medicine practice. Patients with singleton pregnancies who had a mid-trimester anatomy ultrasound between January 2017 and December 2018 were screened for inclusion. A total of 712 patients who conceived after IVF with or without PGT-A were age-matched with natural conception controls. The primary outcome was the rate of fetal and placental anomalies detected on mid-trimester anatomical survey. Secondary outcomes included the rates of abnormal nuchal translucency (NT), second trimester serum analytes, non-invasive prenatal testing (NIPT), and invasive diagnostic testing.Result(s)There were no differences in the rate of fetal anomalies in patients who underwent IVF with PGT-A compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions. Rate of abnormal NT, high-risk NIPT, and abnormal invasive diagnostic testing were also similar. Patients who conceived after IVF with or without PGT-A had higher rates of abnormal placental ultrasound findings and abnormal second trimester serum analytes compared to natural conception controls.ConclusionThe use of PGT-A was not associated with a difference in risk of fetal anomaly detection on a mid-trimester anatomical survey. The results of this study highlight the importance of improved patient counseling regarding the limitations of PGT-A, and of providing standard prenatal care for pregnancies conceived through ART, regardless of whether PGT-A was performed.

1007 Umbilical cord segment collection allows for comprehensive genetic diagnostic testing at delivery

The detection of fetal anomalies frequently prompts women to pursue genetic diagnostic testing. Many patients defer testing until delivery to avoid undergoing an invasive procedure during pregnancy. We aim to describe our experience in the collection of umbilical cord tissue, in lieu of cord blood or neonatal blood, for the genetic work up of prenatally detected fetal anomalies. This was a retrospective cohort analysis of participants who underwent collection of umbilical cord tissue for genetic diagnostic testing. From 2015-2019, our institution offered participation in research trio exome sequencing (ES) to all patients with a fetal anomaly and a normal or non-causative karyotype and chromosomal microarray (CMA). Eligible patients consented to a genetic work up with karyotype, SNP-array, and ES on tissue obtained from either invasive prenatal diagnosis or cord segment collected at delivery. One hundred seven participants, ages 19-43, with a prenatally diagnosed fetal anomaly, elected to have genetic testing performed at delivery. There were 104 livebirths, 1 stillbirth, and 2 fetal demises. Cord segments were collected from 105 participants at delivery. Conventional cytogenetics (CC) was performed in 77.5% of cases and was successful in 88.8%. SNP-Array testing was performed in 77.5% of cases and was successful in 95.5%. Exome sequencing was performed in 98.1% of cases and was successful 99.1% of the time. These success rates are similar to chorionic villus sampling and amniocentesis. The collection of a cord segment, in lieu of cord blood, allowed for successful genetic diagnosis across conventional cytogenetic, SNP-array, and next generation technologies in the majority of cases. In patients who decline prenatal diagnosis via CVS/amniocentesis, or for whom collection of cord blood cannot be facilitated, our experience shows umbilical cord segment is an alternative and acceptable sample available for genetic testing on newborns.

Birth defects associated with obesity

Background: In women of reproductive age, obesity is the most common medical condition. A condition which is increasing in prevalence worldwide. Obesity during pregnancy could have both short- and long-term adverse consequences for both mother and child. Methods: In this narrative review we discuss the most prominent observational studies and meta-analyses focusing on the association between maternal obesity (and BMI) and fetal congenital anomalies. Possible pathophysiological pathways linking the two are also discussed. Results: Obese women were found to have an increased at-birth prevalence of a wide range of fetal anomalies. These include congenital heart anomalies and neural tube defects, with a possible “dose-response” correlation. The reasons for that may include increased insulin resistance in early pregnancy and nutritional deficiencies, but also probably result from the challenges of fetal anomaly detection during a detailed ultrasound in obese women. Discussion: A large array of different fetal anomalies have been found to be increased in the maternal obese population. The incidence of fetal neural tube defects and serious heart anomalies among the obese population might grow by 30%. Congenital anomalies are known to be a major cause of stillbirth and infant mortality, and are important contributors to preterm delivery and childhood morbidity. The possible dose response pattern observed between the severity of obesity and teratogenic potential necessitates further investigation, which may also shed light on the underlying pathophysiology. The increasing prevalence of obesity in general and particularly in the pregnant population may thus have serious health implications. Education regarding the many risks associated with obesity, for mothers and their babies, are warranted.

Retrospective Analysis of Pregnancy Terminations: 9-Years Experience at a Tertiary Hospital in Southeastern Turkey

Objective: To determine the indications for termination of pregnancy, and their consistency with autopsy data to offer an insight into termination of pregnancy having regard to conditions in Turkey.Study Design: Three hundred and ninety-one pregnancies terminated before the 24th gestational week were enrolled in this study. Maternal age, gravidity, parity, abortion, the status of folic acid usage, consanguineous marital status, gestational week, anomalies that led to termination and pathological diagnoses were recorded. Anomalies that led to termination were grouped as central nervous system , cardiovascular system, gastrointestinal system, genitourinary system, pulmonary, musculoskeletal, head-neck, chromosomal, genetic, multiple anomalies and others. Four groups were formed based on the consistency of prenatal ultrasound diagnosis with pathological diagnosis.Results: Mean age, gravidity, parity, abortion, and gestational week were 28 years, 3, 1, 1, and 15.7 weeks, respectively. One hundred and thirty-eight (35.2%) patients had consanguineous marriage. Three major causes of termination were central nervous system (45.78%), head-neck (17.4%) and multiple anomalies (14%). One hundred and twenty-eight (71.5%) patients with central nervous system anomalies were not using folic acid. Comparison of prenatal ultrasound findings with pathology results, 275 (70.3%) patients had full consistency, 46 (11.8%) had other findings at autopsy besides the confirmed sonographic findings, 34 (8.7%) had some sonographic findings not confirmed at autopsy, and 4 (1%) had no consistency between the findings.Conclusion: Central nervous system anomalies constitute the most common indication for termination of pregnancy in this retrospective study. Low rate of periconceptional folic acid among those cases is remarkable. First-trimester screening for earlier detection of fetal anomalies may be important in high-risk groups such as those with consanguineous marriages.

Accuracy and Completion Rate of the Fetal Anatomic Survey in the Super Obese Parturient.

To determine the completion rate of ultrasound in with a body mass index (BMI) ≥ 50 to women with BMI 18.5 to 29.9. This study was a retrospective cohort study. Women with a singleton pregnancy, age 18 to 45 with a BMI ≥50 that delivered between 2013-2016 were compared to women with a BMI 18.5 to 29.9 during that same time period to assess the accuracy and, as a second aim, the completion rate of the fetal anatomic survey. Data were analyzed using two-sample t test, chi-square test, or logistic regression as appropriate. Eighty-one cases with a BMI ≥50 were compared with 81 patients with a BMI 18.5 to 29.9. Maternal demographics and timing (gestational age) at the time of the ultrasound were similar between groups. In women with a BMI 18.5 to 29.9, completion of anatomy was 58% of the time with the first ultrasound, 81% with second ultrasound, and 84% with the third ultrasound. In women with BMI ≥50, completion of anatomy was 10% of the time with the first ultrasound, 33% with the second ultrasound, and 42% with the third ultrasound. Each time frame was statistically significant. Agreement level on the accuracy to detect fetal anomalies between groups were not statistically significant between the groups. In women with a BMI ≥50 compared to women with BMI of 18.8 to 29.9, more ultrasounds are needed to complete the anatomic survey although overall accuracy in fetal anomaly detection is similar.

Detection of Fetal Cardiac Anomaly from Composite Abdominal Electrocardiogram

Detecting the presence of fetal cardiac anomaly from Fetal Electrocardiogram (FECG) is intricate and challenging, but it is vital to know the health status of the fetus. This paper develops a Fetal Cardiac Anomaly Detection (FCAD) system that focuses on FECG signal extraction and identification of pathologic fetus using clinically essential features hidden in the amplitudes and waveform durations of the FECG signals. The proposed FCAD system consists of six main stages: (i) Abdominal Electrocardiogram (AECG) signal Acquisition (ii) Pre-processing (iii) FECG extraction (iv) Post-processing (v) Feature extraction and (vi) Pathologic fetus characterization using Support Vector Machine (SVM) classifier. Three approaches based on Fast Independent Component Analysis (Fact ICA) algorithm, Waveform Correspondence Algorithm (WCA) and Smoothed Pseudo Wigner-Ville Distribution (SPWVD), a time-frequency based technique were employed for FECG extraction and their performances were assessed based on the computed performance measures such as Signal-to-Noise Ratio (SNR), Root Mean Square Error (RMSE) and Correlation Coefficient (ρ).The performance of the FCAD system was evaluated on AECG signals taken from publicly available databases and real signals. Classification results evince that the features derived from FECG signals obtained using SPWVD gave promising best accuracy 97% than others. The experimental results suggest that the developed FCAD system has enormous potential and promise in the early detection of pathologic fetuses.

Absent Cavum Septi Pellucidi

Absent Cavum Septi Pellucidi