Mid-trimester Anomaly Scan Research Articles

Factors associated with late gestational age of diagnosis and/or delayed referral of fetuses with major structural malformations: A study in a tertiary care hospital in South India.

To evaluate the factors related to delayed diagnosis or referral of women with major congenital malformations in a tertiary care hospital in South India, with a specific emphasis on the socioeconomic and psychosocial aspects. A retrospective analysis was conducted on 107 pregnant women with confirmed fetal anomalies at Jawaharlal Institute of Postgraduate Medical Education and Research. Both qualitative and quantitative data were collected on factors related to the patient, physician, and healthcare system that could have contributed to the delay. In our study of 107 patients, 98.1% had at least one antenatal check-up before 20weeks. Among them, 75.2% (79/107) were advised to undergo a mid-trimester anomaly scan, and 70.8% (56/79) actually underwent the scan. However, 62.5% (35/56) of those who had the scan performed at the appropriate time had undetected abnormalities. Retrospective analysis showed that 28.5% (10/35) of these anomalies could have been detected as early as 12-14weeks of gestation. Additionally, 24.3% (26/107) of women were advised to undergo scans at or after 20weeks and 4.7% (5/107) had anomalies detected during the scan but were unaware about the findings until subsequent visits. Inadequate healthcare professional training, busy schedules, lack of awareness, and communication gaps were identified as potential reasons for delayed diagnosis. Psychosocial factors such as denial, fear, emotional distress, and anxiety also influenced decision-making and contributed to delayed medical care. Addressing healthcare provider training, communication between the healthcare professionals and the patients, and psychosocial factors are essential to prevent delays and improve pregnancy management. Future interventions should focus on awareness, providing comprehensive information, and support for parents facing fetal anomalies.

Risk of adverse pregnancy outcome in isolated single umbilical artery diagnosed at the mid-trimester anomaly scan: a large Danish retrospective cohort study

Objective To examine the association of isolated single umbilical artery (iSUA) confirmed at the mid-trimester anomaly scan and adverse pregnancy outcome and congenital malformations with up to 10 years postnatal follow up. Methods This retrospective cohort study included 116,501 singleton pregnancies consecutively enrolled in first trimester screening for aneuploidies and mid-trimester anomaly scan at three University Hospitals in the Capital Region of Copenhagen, Denmark. Data from the Danish Fetal Medicine Database (2008–2017) were verified by manually scrutinizing pre- and postnatal records. The main outcomes of interest were intrauterine fetal demise (IUFD), small for gestational age (SGA), preterm delivery, cesarean section and unrecognized pre- and postnatal congenital malformations. Results In total, 775 pregnancies with iSUA were identified. Isolated SUA were associated with a significantly increased risk of IUFD (OR 4.16, 95% CI 2.06–8.44), SGA < 3rd centile (aOR 2.41, 95% 1.85–3.14) and SGA < 10th centile (aOR 1.84, 95% CI 1.53–2.21), but not with preterm delivery or cesarean section. The laterality of the missing artery was not associated with SGA. In total, 4.3% of pregnancies with iSUA had unrecognized congenital malformations. 1.5% with iSUA had congenital cardiovascular malformations, which were considered minor. Conclusion Isolated SUA is associated with IUFD and SGA, supporting surveillance during third trimester. If, during the mid-trimester scan, the sonographer achieves thorough, extended cardiac views and finds no additional malformation other than SUA, fetal echocardiography seems not to be needed.

Associations, follow up data, and postnatal outcome of antenatally diagnosed Urinary Tract Dilatation - Five-year single tertiary center experience from South India

Urinary tract dilatations (UTD) are frequently diagnosed during Mid-Trimester Anomaly Scan (MTAS), at which time, given their variable progression and heterogeneous classification systems, offering suitable counsel to the couple is challenging. Based on postnatal data, we aimed to guide parental counseling, and further evaluation of UTD diagnosed at MTAS. Specifically, the utility of multi-disciplinary UTD classification system was tested. A retrospective observational study of all UTDs included from five years (2015-2020) MTAS register. The multi-disciplinary UTD classification system was used for antenatal/postnatal UTD categorization. Follow-up data were obtained from case records until the current age of children (2-6 years). Out of 527 fetal abnormalities, 103 had UTD at MTAS. Based on the third-trimester ultrasound, 49 were low-risk UTD A1, and 44 were increased-risk UTD A2-3 (including the nineteen UTD A1 at MTAS worsened to A2-3 by third-trimester). On postnatal follow-up of UTD A1 and A2-3, respectively, neonatal UTD P2/P3 was seen in 2% and 40.9%; complete spontaneous resolution was seen in 79.5% and 43.18%; none and 22.7% underwent surgical intervention; persistent P2/P3 UTD were seen on follow-up in 2% and 4.5% (excluding those who needed surgery); impaired renal function was seen in none and 36.3%, and recurrent UTI in 8.1% and 34.09%. The subgroup with progressive UTD (from A1 to A2-3 by third-trimester ultrasound) formed 43% of the final UTD A2-3 category. Among these 19 cases, surgical intervention was performed in eight (42%); impaired renal function was seen in 7 cases (36.8%), and recurrent UTI was seen in eight (42%). Given the diverse classification systems for UTD, ours is the second Indian data proving the prognostic utility of multi-disciplinary UTD classification system, specifically at third trimester scan, based on postnatal outcome. In contrast to published guidelines, our data suggests follow-up for renal pelvis anteroposterior diameter (APD) of 4-7mm at MTAS, as some may worsen. Similar progression has been noted in other Indian studies, but the classification systems are different. Contrary to the published literature, we could not suggest a renal APD cut-off as a single criterion to predict surgical intervention. Significant limitations are retrospective observational design and multiple sonographers. Our data helps guide parental counseling and further evaluation for UTD diagnosed at MTAS. The multi-disciplinary Consensus UTD Classification system, was helpful in prognostication.

Normative Values of Mid Trimester Cervical Consistency Index in Women Delivering at Term

Abstract Aims and Objective Cervical Consistency Index (CCI) is a new technique to measure the consistency of Cervix (softening) and is expected to show changes before cervical shortening. The aim of this study was 1. To find out the normative values of mid-trimester Cervical Consistency Index in women delivering at term. 2. To compare the discriminative ability of cervical consistency index with cervical length for prediction of spontaneous preterm birth. Method A total of 144 antenatal patients undergoing mid-trimester anomaly scan were subjected to transvaginal cervical length measurement as per Fetal Medicine Foundation criteria. Cervical consistency index was measured as defined by Para et al. The anterior–posterior diameter of cervix was measured before compression (AP) and after compression (AP') in the same sitting. Cervical consistency index (CCI) was calculated by the formula:CCI = APⅹ/AP × 100;The result of CCI was not used in the clinical management of the patient. Women who delivered at 37 weeks and beyond were included to form the normative data. An attempt was made to study the ability of mid-trimester cervical consistency index to predict spontaneous preterm birth as compared to cervical length (CL). Results Range of CCI in our study was 41–100% and that of CL was 2–4 cm.Based on values of CCI and CL an ROC curve was made, AUC measured for CCI was 0.923 and for CL was 0.849. The cut off determined for CCI was 64.5%, above which all women delivered at ≥ 37 weeks. Only Two women who delivered preterm (&lt; 37) weeks had a CCI of less than 64.5% (64 and 47%), but cervical length was greater than 2.5 cms in both of them. The Sensitivity, Specificity, Positive Predictive Value, Negative Predictive Value and accuracy of CCI for predicting term delivery at a cutoff of 64.5% in our study was 83.8%, 100%, 100%, 8% and 93.8% respectively, whereas the corresponding figures for predicting preterm delivery were 100%, 83.8%, 8%, 100% and 93.8%. Discriminative ability of CCI in comparison to CL could not be determined because only two women delivered preterm in our study. Conclusion This was a pilot study to form the normative values of CCI for women delivering at term. At a cutoff value of 64.5% or more all women delivered at term. Two women who delivered preterm had a CCI of less than 64.5%. Further large studies are required before CCI can be incorporated as a routine to assess the antenatal cervix.

We Need to Improve Prenatal Screening Practices in Primary Obstetric Care: A Representative Data from a Fetal Medicine Unit in Coastal Karnataka

BackgroundThe present observational data from the fetal medicine unit aim to identify gaps in prenatal screening modalities employed in the primary obstetric care population in coastal Karnataka.MethodsA retrospective observational study of all referrals to Fetal Medicine unit is over 2 years. For each fetal abnormality, we reviewed the literature to note the range of gestational age at which the abnormality should almost always be diagnosed. Taking this as standard, the gestational age at which each of these problems was diagnosed and referred was noted down. They were compared and analysed to understand the efficiency of prenatal screening practices in the referral population. The final perinatal outcome was also noted down in order to assess the impact on perinatal mortality/morbidity.ResultsA total of 277 cases were referred to fetal medicine unit. Two hundred twenty-eight cases (82.31%) were low risk pregnancies. Among 277 cases, 200 (72.2%) had structural abnormalities, 7 (2.5%) chromosomal/ genetic abnormalities, 61 (22.02%) isolated soft markers, and 9 (3.2%) twin-related problems. Detection rate of structural abnormalities was 33% at 14 weeks and 52.22% at 20 weeks, considering those anomalies usually diagnosed by these gestational age windows. The primary reason for delayed diagnosis was non-performance of ultrasound “on time”, rather than missed diagnosis. Fifty-three per cent (106 out of 200) of all the fetal structural abnormalities were diagnosed beyond 20 weeks. Average gestational age at mid-trimester anomaly scan in this group was between 20 and 24 weeks. Sixty-one patients were referred due to isolated soft markers, 30 beyond 20 weeks. Eighty per cent of them did not have any aneuploidy screening in pregnancy.ConclusionPractice of fetal medicine hugely depends upon appropriate prenatal screening practices in the referral population. There is an urgent need to bring in standard protocols for Prenatal Screening across all the primary obstetric care providers, both in the public and private sectors. Considering the huge burden of delayed prenatal diagnosis in our country, the proposed revision of MTP bill is a welcome change in fast-growing field of fetal diagnosis and therapy.

Diagnosis of Fetal Facial and CNS Malformations during Mid-Trimester Anomaly Scan: Does Three-Dimensional Ultrasonography Have Any Added Value?

Abstract Background: The ability of three dimensional ultrasound to acquire and save volume datasets, reconstruct any plane in the volume and allow off-line re-examination and manipulation of these datasets, makes this technology superior to two dimensional ultrasound in many areas. Aim of Study: This study was conducted to determine if there is any added value of 3D US examination in diagnosis of fetal malformations during mid-trimester anomaly scan. Subject and Methods: Pregnant women referred for mid-trimester anomaly scan were prospectively evaluated by 2D US. Fetuses suspected to have malformation by 2D US or with increased risk of a recurrence or strong family history of a congenital abnormality, were evaluated by 3D US. Women confirmed to have fetal malformations postnatally were included. Results: Sixty malformations were confirmed postnatally. 2D US established the diagnosis of fifty seven (95%) malfor-mations and two malformations were detected exclusively by 3D US, and the difference was highly significant [McNemar chi-squared statistic=18, p=<0.0001]. Fifty nine malformations were diagnosed by both 2D and 3D US. Conclusions: 3D US significantly improved the number of detected fetal malformations, than that detected by 2D US. 3D imaging is superior in specific diagnostic problems. Rather than representing an alternative, 3D US is complementary to the conventional 2D US in the field of prenatal diagnosis.

Diagnosis of non-cardiac fetal malformations during mid-trimester anomaly scan: Does three-dimensional ultrasonography have any added value?

Objective: To determine if there is any added value of 3D US examination in diagnosis of fetal malformations during mid-trimester anomaly scan. Design: A prospective observational study. Setting: Obstetrics and Gynecology Ultrasound Unit, Zagazig University Hospitals. Patients and Methods: Pregnant women referred for mid-trimester anomaly scan were prospectively evaluated by 2D US. Fetuses suspected to have malformation by 2D US or with increased risk of a recurrence or strong family history of a congenital abnormality were evaluated by 3D US. Women confirmed to have fetal malformations postnatally were included. Results:Seven hundred and seventy-six malformations were confirmed postnatally. 2D US established the diagnosis of 752 (96.9%) malformations and 3D US diagnosed 770 (99.2%) malformations and the difference was highly significant [McNemar chi-squared statistic= 16, p=˂0.0001]. Seven hundred and fifty-two malformations were diagnosed by both 2D and 3D US. Eighteen malformations were detected exclusively by 3D US. 3D US was superior to 2D in evaluating cranial, facial and limb malformations. A cleft soft palate, hand abnormalities (n=3) and feet abnormalities (n=2) were missed by both 2D and 3D US. Conclusion: Three dimensional US added value in diagnosis of some types of fetal malformations. Rather than representing an alternative, 3D US is complementary to the conventional 2D US in the field of prenatal diagnosis.

Neonatal hemorrhagic shock as a consequence of ruptured velamentous vessels – a report of two cases

Abstract Background The objective of the study was to present the rupture of velamentous vessels as a rare but dangerous complication of pregnancy associated with high neonatal risk. Diagnosis of velamentous insertion of umbilical vessels is important to recognize because of the possibility of their rupture during labor. If the condition remains unrecognized, the most important step during labor is prompt and timely treatment of the multidisciplinary team in order to reduce fetal and neonatal mortality and morbidity. Case presentation We present two cases of ruptured velamentous vessels, both with good outcomes: in the first case the baby was delivered vaginally after a spontaneous rupture of the velamentous vessels, and in the second case an emergency cesarean section was performed. Conclusions Although bleeding caused by the rupture of velamentous vessels is not frequent, the consequences can be serious. The proper diagnosis of the umbilical cord insertion is mandatory during the mid-trimester anomaly scan, but in most cases the condition remains unrecognized until delivery. In the case of a rupture, a prompt reaction of the medical team is crucial in order to save the baby. Sometimes only an urgent 0 Rh negative blood transfusion can avoid a poor neonatal outcome.

Etiology and Prognosis of Severe Ventriculomegaly Diagnosed atLate Gestation.

We sought to assess the causes and outcomes of severe VM diagnosed de novo after 24 weeks of gestation where a mid-trimester anomaly scan was described as normal. Multicenter retrospective study of five European fetal medicine centers. The inclusion criteria were normal anatomy at the mid-trimester scan, uni/bilateral finding of posterior ventricle measuring ≥ 15 mm after 24 weeks with neonatal and postnatal pediatric and/or neurological assessment data. Of 74 potentially eligible cases, 10 underwent termination, the outcome was missing in 19 cases and there was 1 neonatal death. Therefore, 44 formed the study cohort with a median gestation at diagnosis of 32 + 0 weeks (25 + 6 - 40 + 5). VM was unilateral in five cases. Agenesis of the corpus callosum (ACC) and grade III/IV intraventricular hemorrhage (IVH) accounted for 14 cases each. ACC was isolated in 9 fetuses. Obstructive abnormalities included 5 arachnoid and 1 cavum velum interpositum cyst. Four fetuses had an associated suspected or confirmed genetic condition, 2 congenital infections, 1 abnormal cortical development and the etiology was unknown in 3/44. Postnatal assessment at median 20 months (3 - 96) showed 22/44 (50 %) normal, 7 (16 %) mildly abnormal and 15 (34 %) severely abnormal neurodevelopmental outcomes. One half of babies with severe VM diagnosed after 24 weeks have normal infant outcome with ACC and IVH representing the most common causes. Etiology is the most important factor affecting the prognosis of fetuses with severe VM diagnosed at late gestation.

Recommendations on routine mid-trimester anomaly scan.

The purpose of this paper is to discuss the minimal requirements of the routine mid-trimester anomaly scan in Asian countries after taking into account various factors, including local circumstances, medical practice, guidelines, and availability of experienced sonographers and high-resolution ultrasound machines, which affect the prenatal detection rate of fetal anomalies. In general, a routine mid-trimester anomaly scan includes the assessment of the number of fetuses, fetal cardiac activity, size, anatomy, liquor and placental location. The most controversial issue is which fetal structures should at least be examined. We discussed the requirements of a basic routine scan, as well as the optional views, which can be obtained if feasible to improve the detection of fetal, placental or maternal abnormalities. Routine anomaly scan remains a clinical challenge.

Ultrasound diagnosis of fetal renal abnormalities

Development of the urogenital system in humans is a complex process; consequently, renal anomalies are among the most common congenital anomalies. The fetal urinary tract can be visualised ultrasonically from 11 weeks onwards, allowing recognition of megacystis at 11-14 weeks, which warrants comprehensive risk assessment of possible underlying chromosomal aneuploidy or obstructive uropathy. A mid-trimester anomaly scan enables detection of most renal anomalies with higher sensitivity. Bilateral renal agenesis can be confirmed ultrasonically, with empty renal fossae and absent bladder filling, along with severe oligohydramnios or anhydramnios. Dysplastic kidneys are recognised as they appear large, hyperechoic, and with or without cystic spaces, which occurs within the renal cortex. Presence of dilated ureters without obvious dilatation of the collecting system needs careful examination of the upper urinary tract to exclude duplex kidney system. Sonographically, it is also possible to differentiate between infantile type and adult type of polycystic kidney diseases, which are usually single gene disorders. Upper urinary tract dilatation is one of the most common abnormalities diagnosed prenatally. It is usually caused by transient urine flow impairment at the level of the pelvi-ureteric junction and vesico-ureteric junction, which improves with time in most cases. Fetal lower urinary tract obstruction is mainly caused by posterior urethral valves and urethral atresia. Thick bladder walls and a dilated posterior urethra (keyhole sign) are suggestive of posterior urethral valves. Prenatal ultrasounds cannot be used confidently to assess renal function. Liquor volume and echogenicity of renal parenchyma, however, can be used as a guide to indirectly assess the underlying renal reserve. Renal tract anomalies may be isolated but can also be associated with other congenital anomalies. Therefore, a thorough examination of the other systems is mandatory to exclude possible genetic disorders.

Relationship of isolated single umbilical artery to fetal growth, aneuploidy and perinatal mortality: systematic review and meta‐analysis

To review the available literature on outcome of pregnancy when an isolated single umbilical artery (iSUA) is diagnosed at the time of the mid-trimester anomaly scan. We searched MEDLINE (1948-2012), EMBASE (1980-2012) and the Cochrane Library (until 2012) for relevant citations reporting on outcome of pregnancy with iSUA seen on ultrasound. Data were extracted by two reviewers. Where appropriate, we pooled odds ratios (ORs) for the dichotomous outcome measures: small for gestational age (SGA), perinatal mortality and aneuploidy. For birth weight we determined the mean difference with 95% CI. We identified three cohort studies and four case-control studies reporting on 928 pregnancies with iSUA. There was significant heterogeneity between cohort and case-control studies. Compared to fetuses with a three-vessel cord, fetuses with an iSUA were more likely to be SGA (OR 1.6 (95% CI, 0.97-2.6); n = 489) or suffer perinatal mortality (OR 2.0 (95% CI, 0.9-4.2); n = 686), although for neither of the outcomes was statistical significance reached. The difference in mean birth weight was 51 g (95% CI, -154.7 to 52.6 g): n = 407), but again this difference was not statistically significant. We found no evidence that fetuses with iSUA have an increased risk for aneuploidy. In view of the non-significant association between iSUA and fetal growth and perinatal mortality, and in view of the heterogeneity in studies on aneuploidy, we feel that large-scale, prospective cohort studies are needed to reach definitive conclusions on the appropriate work-up in iSUA pregnancies. At present, targeted growth assessment after diagnosis of iSUA should not be routine practice.

Factors influencing perinatal outcome of fetal hyperechogenic bowel

AimFetal hyperechogenic bowel is an indicator of a number of possible underlying conditions and its identification presents counselling dilemma. Our aim was to identify factors that influence the perinatal outcome...

Long-Term Outcome for Children Born After a First-Trimester Measurement of Increased Nuchal Translucency with a Normal Karyotype: A Retrospective Analysis

To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency with respect to fetal loss, structural defects genetic syndromes, and neurological outcome. Retrospective analysis and telephone interview. All included pregnancies underwent a mid-trimester anomaly scan. 279 pregnancies were included. The overall live birth rate was 81.4 %, and decreased as the NT measurement increased. The most common structural defect was cardiac anomalies (7 %). If the second-trimester anomaly scan was uneventful, the chance of a healthy live birth was 92 %. The number of unexpected neurodevelopmental delays after a normal scan during mid-trimester was 1.1 %. Counseling should emphasize that if the karyotype is normal and no fetal structural malformations were missed prenatally after resolution of nuchal thickening, the prognosis is positive.

Prenatal screening and diagnosis—An introduction

Prenatal screening and diagnosis—An introduction

Cervical length at 18–22 weeks of gestation for prediction of spontaneous preterm delivery in Hong Kong Chinese women

To assess the value of a single cervical length measurement by transvaginal sonography (TVS) at the time of mid-trimester anomaly scan for predicting spontaneous preterm delivery (SPD) among Chinese women. A prospective observational study was carried out involving 2880 subjects with singleton pregnancies and confirmed gestational age. Cervical length was measured at 18-22 weeks of gestation. The incidence of SPD < 34 weeks and < 37 weeks were 0.7% and 3.7%, respectively. Women with SPD < 34 weeks and SPD < 37 weeks had shorter median cervical lengths (32.6 mm and 36.2 mm, respectively) than those with term deliveries (37.6 mm) (P = 0.006 and 0.025, respectively). The predictive performance of cervical length was better for SPD < 34 weeks compared with < 37 weeks. A cervical length < or = 27 mm, which corresponded to the 4th centile, occurred in 36.8%, 62.5% and 100% of those with SPD < 34, < 30 and < 26 weeks, respectively. The positive likelihood ratio (LR) of a cervical length < or = 27 mm in predicting SPD < 34 weeks was 9.8. Using logistic regression, both short cervix and funneling were independent predictors for SPD < 34 weeks of gestation. The coexistence of funneling and a cervical length < or = 27 mm gave a positive predictive value (PPV) and LR of SPD < 34 weeks of 14.7% and 26.0, respectively. Mid-trimester cervical length is predictive of SPD in Chinese women. However, given the low PPV of a short cervical length, its clinical utility is still limited in low-risk populations.