Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations.

BACKGROUND: Prenatal ultrasound is widely used to screen for structural anomalies before birth. While this is traditionally done in the second trimester, there is an increasing use of first-trimester ultrasound for early detection of lethal and certain severe structural anomalies. OBJECTIVES: To evaluate the diagnostic accuracy of ultrasound in detecting fetal structural anomalies before 14 and 24 weeks' gestation in low-risk and unselected pregnant women and to compare the current two main prenatal screening approaches: a single second-trimester scan (single-stage screening) and a first- and second-trimester scan combined (two-stage screening) in terms of anomaly detection before 24 weeks' gestation. SEARCH METHODS: We searched MEDLINE, EMBASE, Science Citation Index Expanded (Web of Science), Social Sciences Citation Index (Web of Science), Arts & Humanities Citation Index and Emerging Sources Citation Index (Web of Science) from 1 January 1997 to 22 July 2022. We limited our search to studies published after 1997 and excluded animal studies, reviews and case reports. No further restrictions were applied. We also screened reference lists and citing articles of each of the included studies. SELECTION CRITERIA: Studies were eligible if they included low-risk or unselected pregnant women undergoing a first- and/or second-trimester fetal anomaly scan, conducted at 11 to 14 or 18 to 24 weeks' gestation, respectively. The reference standard was detection of anomalies at birth or postmortem. DATA COLLECTION AND ANALYSIS: Two review authors independently undertook study selection, quality assessment (QUADAS-2), data extraction and evaluation of the certainty of evidence (GRADE approach). We used univariate random-effects logistic regression models for the meta-analysis of sensitivity and specificity. MAIN RESULTS: Eighty-seven studies covering 7,057,859 fetuses (including 25,202 with structural anomalies) were included. No study was deemed low risk across all QUADAS-2 domains. Main methodological concerns included risk of bias in the reference standard domain and risk of partial verification. Applicability concerns were common in studies evaluating first-trimester scans and two-stage screening in terms of patient selection due to frequent recruitment from single tertiary centres without exclusion of referrals. We reported ultrasound accuracy for fetal structural anomalies overall, by severity, affected organ system and for 46 specific anomalies. Detection rates varied widely across categories, with the highest estimates of sensitivity for thoracic and abdominal wall anomalies and the lowest for gastrointestinal anomalies across all tests. The summary sensitivity of a first-trimester scan was 37.5% for detection of structural anomalies overall (95% confidence interval (CI) 31.1 to 44.3; low-certainty evidence) and 91.3% for lethal anomalies (95% CI 83.9 to 95.5; moderate-certainty evidence), with an overall specificity of 99.9% (95% CI 99.9 to 100; low-certainty evidence). Two-stage screening had a combined sensitivity of 83.8% (95% CI 74.7 to 90.1; low-certainty evidence), while single-stage screening had a sensitivity of 50.5% (95% CI 38.5 to 62.4; very low-certainty evidence). The specificity of two-stage screening was 99.9% (95% CI 99.7 to 100; low-certainty evidence) and for single-stage screening, it was 99.8% (95% CI 99.2 to 100; moderate-certainty evidence). Indirect comparisons suggested superiority of two-stage screening across all analyses regarding sensitivity, with no significant difference in specificity. However, the certainty of the evidence is very low due to the absence of direct comparisons. AUTHORS' CONCLUSIONS: A first-trimester scan has the potential to detect lethal and certain severe anomalies with high accuracy before 14 weeks' gestation, despite its limited overall sensitivity. Conversely, two-stage screening shows high accuracy in detecting most fetal structural anomalies before 24 weeks' gestation with high sensitivity and specificity. In a hypothetical cohort of 100,000 fetuses, the first-trimester scan is expected to correctly identify 113 out of 124 fetuses with lethal anomalies (91.3%) and 665 out of 1776 fetuses with any anomaly (37.5%). However, 79 false-positive diagnoses are anticipated among 98,224 fetuses (0.08%). Two-stage screening is expected to correctly identify 1448 out of 1776 cases of structural anomalies overall (83.8%), with 118 false positives (0.1%). In contrast, single-stage screening is expected to correctly identify 896 out of 1776 cases before 24 weeks' gestation (50.5%), with 205 false-positive diagnoses (0.2%). This represents a difference of 592 fewer correct identifications and 88 more false positives compared to two-stage screening. However, it is crucial to acknowledge the uncertainty surrounding the additional benefits of two-stage versus single-stage screening, as there are no studies directly comparing them. Moreover, the evidence supporting the accuracy of first-trimester ultrasound and two-stage screening approaches primarily originates from studies conducted in single tertiary care facilities, which restricts the generalisability of the results of this meta-analysis to the broader population.

Prenatal diagnosis (or lack thereof) of arthrogryposis multiplex congenita and its impact on the perinatal experience of parents: A retrospective survey.

OBJECTIVE: To examine parental experiences during pregnancies affected by Arthrogryposis Multiplex Congenita (AMC) by identifying commonalities, risk factors, and areas for improvement in detection rates, care protocols, and patient experience. STUDY DESIGN: An online survey was distributed via AMC support groups on Facebook. Topics included demographics, risk factors, parental recall of sonographic findings, delivery characteristics and neonatal findings. Responses were divided into antenatally detected cases (ADCs) and postnatally detected cases (PDCs). Quantitative responses were analyzed with the Fisher exact test. Qualitative data were analyzed with thematic analysis. RESULTS: The antenatal detection rate of arthrogryposis was 37%. Decreased fetal movement was reported by 53% and early bleeding by 21%. Sonographic findings in ADCs included clubfoot (83%), clenched hand (51%), decreased fetal movement (50%), elbow contracture (51%), and knee contracture (46%). Among ADCs, 29% delivered vaginally and 71% delivered by cesarean versus PDCs (44% vaginal, 56% cesarean). Neonatal intensive care unit admission rate was 63%. Bone fracture occurred in 9%. Detection led to a planned change in delivery mode in 33% and location in 50%. Among ADCs, 17% felt their concerns were not adequately addressed versus 43% of PDCs. CONCLUSIONS: Antenatal detection of arthrogryposis was low. We propose enhanced screening criteria to aid prenatal diagnosis and promote utilization of more robust practice guidelines.

Health professionals' perspectives on the role of obstetric ultrasonography in maternity care in rural eastern Ethiopia: a qualitative descriptive study.

OBJECTIVE: The purpose of this exploratory study was to assess healthcare providers' perspectives on maternity care following the introduction of ultrasound services in the area. DESIGN: The qualitative descriptive study. STUDY SETTING: This study was carried out in health centres under Child Health and Mortality Prevention Surveillance (CHAMPS) pregnancy surveillance catchment areas in Kersa, Haramaya and Harar districts in eastern Ethiopia. PARTICIPANTS: The study participants were 14 midwives working in the maternity units and 14 health centre managers in the respective health facilities. Purposive sampling was used to select participants for in-depth interviews using a semistructured interview guide. Data were analysed using thematic analysis. RESULTS: We identified one overarching theme "improved perinatal care" and six subthemes. Based on the accounts of the participants, the introduction of ultrasound services has led to a remarkable transformation in the overall provision of maternity care at health centres. The participants have reported a substantial rise in the utilisation of antenatal, delivery and postnatal care services. The availability of ultrasound has enabled midwives to deliver comprehensive maternity care. CONCLUSION: Ultrasound service utilisation at health centres improves maternity care. The utilisation of ultrasound in healthcare enables providers to closely monitor the growth and development of the fetus, identify potential complications or abnormalities and administer timely interventions. This integration of ultrasound technology translates into enhanced prenatal care, early detection of issues and prompt management, ultimately leading to improved outcomes for both the mother and the baby.

The use of intrapartum ultrasound in operative vaginal birth: a retrospective cohort study.

BACKGROUND: Poor outcomes from operative vaginal birth have been associated with failure to recognize malposition, breakdown in interdisciplinary communication, and deviation from accepted guidelines. We recently implemented a safety bundle including routine intrapartum ultrasound and a structured time-out and procedural checklist aiming to reduce maternal and perinatal morbidity from operative vaginal birth. OBJECTIVE: This study aimed to compare births where intrapartum ultrasound was used and those where it was not used during a safety bundle implementation period at Monash Health. STUDY DESIGN: We performed a retrospective cohort study at Monash Health during the transitional phase of implementing an operative vaginal birth safety bundle. We studied all women with operative vaginal birth and fully dilated cesarean delivery with a singleton cephalic term fetus. We compared births for which intrapartum ultrasound was used and those for which it was not. The primary outcome was neonates delivered in an unexpected position. Neonatal and maternal morbidity were also assessed, including a neonatal composite of Apgar score <7 at 5 minutes, cord lactate >8 mmol/L, need for resuscitation, significant birth trauma, or neonatal intensive care unit admission. To control for confounding by indication, we estimated propensity scores for the probability of using intrapartum ultrasound for each case based on maternal and labor characteristics, and adjusted the effect estimates for the propensity scores using multivariable logistic regression models. RESULTS: From August 2022 to July 2023, there were 1205 operative vaginal births or fully dilated cesarean deliveries at Monash Health, including 743 (61.7%) forceps, 346 (28.7%) vacuum, and 116 (9.6%) fully dilated cesarean deliveries. Over this time, we observed increased uptake of intrapartum ultrasound from 26% in August 2022 to 60% (P<.001) in July 2023, of the time-out from 21% to 58% (P<.001), and the checklist from 33% to 80% (P<.001) of operative second-stage births. Among the births where intrapartum ultrasound was used (n=509), compared with those where it was not (n=696), there were significantly more forceps births (67% vs 58%; adjusted odds ratio, 1.35; 95% confidence interval, 1.05-1.74; P=.021) and a reduction in vacuum births (24% vs 32%; adjusted odds ratio, 0.77; 95% confidence interval, 0.58-1.01; P=.059). There were no significant differences in fully dilated cesarean delivery or maternal morbidity. Intrapartum ultrasound use was associated with significantly fewer infants being delivered in an unexpected position (0.2% vs 2.2%; adjusted odds ratio, 0.08; 95% confidence interval, 0.00-0.44; P=.019) and a significant reduction in composite neonatal morbidity (22% vs 25%; adjusted odds ratio, 0.73; 95% confidence interval, 0.54-0.97; P=.031). CONCLUSION: During the implementation of a safety bundle, the use of ultrasound before operative vaginal birth was associated with fewer infants delivered in an unexpected position and reduced neonatal morbidity.

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

OBJECTIVE: To investigate the diagnostic yield of trio whole-genome sequencing (WGS) in fetuses with various congenital malformations referred to a tertiary center for prenatal diagnosis. METHODS: In this prospective study, 50 pregnancies with different congenital malformations, negative for trisomies and causative copy-number variants, were analyzed further with fetal-parental trio WGS analysis. Parents were eligible for inclusion if they accepted further investigation following the detection of isolated or multiple malformations on prenatal ultrasound. Cases with isolated increased nuchal translucency, gamete donation or multiple pregnancy were excluded. WGS with the Illumina Inc. 30× polymerase-chain-reaction-free short-read sequencing included analysis of single-nucleotide variants, insertions and deletions, structural variants, short tandem repeats and copy-number identification of SMN1 and SMN2 genes. RESULTS: A molecular diagnosis was achieved in 13/50 (26%) cases. Causative sequence variants were identified in 12 genes: FGFR3 (n = 2), ACTA1 (n = 1), CDH2 (n = 1), COL1A2 (n = 1), DHCR7 (n = 1), EYA1 (n = 1), FBXO11 (n = 1), FRAS1 (n = 1), L1CAM (n = 1), OFD1 (n = 1), PDHA1 (n = 1) and SOX9 (n = 1). The phenotypes of the cases were divided into different groups, with the following diagnostic yields: skeletal malformation (4/9 (44%)), multisystem malformation (3/7 (43%)), central nervous system malformation (5/15 (33%)) and thoracic malformation (1/10 (10%)). Additionally, two cases carried variants that were considered potentially clinically relevant, even though they were assessed as variants of uncertain significance, according to the guidelines provided by the American College of Medical Genetics and Genomics. Overall, we identified a causative or potentially clinically relevant variant in 15/50 (30%) cases. CONCLUSIONS: We demonstrate a diagnostic yield of 26% with clinical WGS in prenatally detected congenital malformations. This study emphasizes the benefits that WGS can bring to the diagnosis of fetal structural anomalies. It is important to note that causative chromosomal aberrations were excluded from our cohort before WGS. As chromosomal aberrations are a well-known cause of prenatally detected congenital malformations, future studies using WGS as a primary diagnostic test, including assessment of chromosomal aberrations, may show that the detection rate exceeds the diagnostic yield of this study. WGS can add clinically relevant information, explaining the underlying cause of the fetal anomaly, which will provide information concerning the specific prognosis of the condition, as well as estimate the risk of recurrence. A genetic diagnosis can also provide more reproductive choice for future pregnancies. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Cases of Ultrasound-Diagnosed Right Aortic Arch with Right Arterial Duct and the Treatment.

This paper aims to discuss the value of ultrasound to diagnose right aortic arch with right arterial duct. A retrospective analysis of fetal echocardiography characteristics of 10 fetuses who were diagnosed as right aortic arch with right arterial duct from December 2016 to March 2021 is made, and focus is put on the relationship between the aortic arch and arterial duct, and the position of aortic arch, arterial duct arch and trachea on the three vessels and trachea view (3VT). As a result, all 10 cases with right aortic arch and right arterial duct do not show aberrant left subclavian artery, and aortic arch with arterial duct are still connected as "V-shaped", and do not get vascular rings. In conclusion, 3VT can simply and clearly detect the right aortic arch, and the key to diagnosing the right aortic arch and right arterial duct is thorough inspection of the aortic arch, arterial duct, and trachea in their respective positions.

Value of Ultrasonic Image Features in Diagnosis of Perinatal Outcomes of Severe Preeclampsia on account of Deep Learning Algorithm.

This study is aimed at discussing the value of ultrasonic image features in diagnosis of perinatal outcomes of severe preeclampsia on account of deep learning algorithm. 140 pregnant women singleton with severe preeclampsia were selected as the observation group. At the same time, 140 normal singleton pregnant women were selected as the control group. The hemodynamic indexes were detected by color Doppler ultrasound. The CNN algorithm was used to classify ultrasound images of two groups of pregnant women. The differential scanning calorimetry (DSC), mean pixel accuracy (MPA), and mean intersection of union (MIOU) values of CNN algorithm were 0.9410, 0.9228, and 0.8968, respectively. Accuracy, precision, recall, and F1-score were 93.44%, 95.13%, 95.09%, and 94.87%, respectively. The differences were statistically significant (P < 0.05). Compared with the normal control group, the umbilical artery (UA), uterine artery-systolic/diastolic (UTA-S/D), uterine artery (UTA), and digital video (DV) of pregnant women in the observation group were remarkably increased; the minimum alveolar effective concentration (MCA) of the observation group was obviously lower than the MCA of the control group, and the differences between groups were statistically valid (P < 0.05). Logistic regression analysis showed that UA-S/D, UA-resistance index (UA-RI), UTA-S/D, UTA-pulsatility index (UTA-PI), DV-peak velocity index for veins (DV-PVIV), and MCA-S/D were independent risk factors for the outcome of perinatal children with severe preeclampsia. In the perinatal management of severe epilepsy, the combination of the above blood flow indexes to select the appropriate delivery time had positive significance to improve the pregnancy outcome and reduce the perinatal mortality.

S100B in maternal circulation of pregnancies complicated by FGR and brain sparing.

OBJECTIVE: To determine whether the presence of brain sparing in fetal growth restricted (FGR) fetuses involves elevation of the cerebral injury biomarker S100B in maternal circulation. METHODS: We included 63 women with suspected small for gestational age (SGA) fetuses between 24 and 35 +6/7 weeks of gestation. Maternal plasma angiogenic factors measurements and sonographic evaluation were performed at recruitment. Next, we subdivided our SGA cohort into three groups: SGA fetuses, FGR fetuses without brain-sparing, and FGR fetuses with brain-sparing (FGR-BS). Serum S100B concentration was calculated as S100B µg/L, S100B MoM, and the ratio S100B/ estimated fetal weight (EFW). We also report one case of S100B concentration surge in maternal serum following the diagnosis of fetal intraventricular hemorrhage (IVH). RESULTS: The FGR-BS group had higher maternal S100B µg/L (p < 0.01, p < 0.05, respectively), S100B MoM (p < 0.001, p < 0.001, respectively), and S100B/EFW (p < 0.001, p < 0.01, respectively), compared to the SGA and FGR groups. In the case report, maternal serum S100B concentrations were 0.0346 µg/L before, and 0.0874 µg/L after IVH occurrence. CONCLUSIONS: S100B concentration in maternal serum increased in pregnancies complicated by FGR and brain sparing. These results may substantiate in-utero cerebral injury and may explain the adverse neurocognitive outcomes reported for this group.

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.

OBJECTIVES: To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types of renal abnormality. METHODS: This was a retrospective study of fetuses at 14-36 weeks screened routinely for renal and other structural abnormalities at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. We retrieved and analyzed data from fetuses with abnormal renal sonographic findings, examined between January 2013 and November 2019, which underwent CMA analysis using tissue obtained from chorionic villus sampling (CVS), amniocentesis or cordocentesis. We evaluated the CMA findings according to type of renal ultrasound anomaly and according to whether renal anomalies were isolated or non-isolated. RESULTS: Ten types of renal anomaly were reported on prenatal ultrasound screening, at a mean ± SD gestational age of 24.9 ± 4.8 weeks. The anomalies were diagnosed relatively late in this series, as 64% of cases with an isolated renal anomaly underwent cordocentesis rather than CVS. Fetal pyelectasis was the most common renal ultrasound finding, affecting around one-third (34.32%, 301/877) of fetuses with a renal anomaly, but only 3.65% (n = 11) of these harbored a P/LP CNV (comprising: isolated cases, 2.37% (4/169); non-isolated cases, 5.30% (7/132)). Hyperechogenic kidney was found in 5.47% (n = 48) of fetuses with a renal anomaly, of which 39.58% (n = 19) had a P/LP CNV finding (comprising: isolated cases, 44.44% (16/36); non-isolated cases, 25.00% (3/12)), the highest diagnostic yield among the different types of renal anomaly. Renal agenesis, which accounted for 9.92% (n = 87) of all abnormal renal cases, had a CMA diagnostic yield of 12.64% (n = 11) (comprising: isolated cases, 11.54% (9/78); non-isolated cases, 22.22% (2/9); unilateral cases, 11.39% (9/79); bilateral cases, 25.00% (2/8)), while multicystic dysplastic kidney (n = 110), renal cyst (n = 34), renal dysplasia (n = 27), crossed fused renal ectopia (n = 31), hydronephrosis (n = 98), renal duplication (n = 42) and ectopic kidney (n = 99) had overall diagnostic rates of 11.82%, 11.76%, 7.41%, 6.45%, 6.12%, 4.76% and 3.03%, respectively. Compared with the combined group of CMA-negative fetuses with any other type of renal anomaly, the rate of infant being alive and well at birth was significantly higher in CMA-negative fetuses with isolated fetal pyelectasis or ectopic kidney, whereas the rate was significantly lower in fetuses with isolated renal agenesis, multicystic dysplastic kidney or severe hydronephrosis. The most common pathogenic CNV was 17q12 deletion, which accounted for 30.14% (22/73) of all positive CMA findings, with a rate of 2.51% (22/877) among fetuses with an abnormal renal finding. Fetuses with 17q12 deletion exhibited a wide range of renal phenotypes. Other P/LP CNVs in the recurrent region that were associated with prenatal renal ultrasound abnormalities included 22q11.2, Xp21.1, Xp22.3, 2q13, 16p11.2 and 1q21, which, collectively, accounted for 2.17% (19/877) of the fetuses with prenatal renal anomalies. CONCLUSIONS: In this retrospective review of CMA findings in a large cohort of fetuses with different types of renal ultrasound abnormality, the P/LP CNV detection rate varied significantly (3.03-39.58%) among the different types of kidney anomaly. Our data may help in the decision regarding whether to perform prenatal genetic testing in fetuses with renal ultrasound findings. Specifically, prenatal CMA testing should be performed in cases of hyperechogenic kidney, regardless of whether or not the anomaly is isolated, while it should be performed postnatally rather than prenatally in cases of fetal pyelectasis. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Utility of expanded carrier screening in pregnancies with ultrasound abnormalities.

OBJECTIVE: Explore the utility of expanded carrier screening in evaluating heritable causes of congenital anomalies detected by prenatal ultrasound. METHOD: A retrospective chart review was conducted to collect structural abnormality and genetic testing data on infants who were evaluated postnatally by a medical geneticist. These were used to determine if expanded carrier screening could have determined the etiology prior to delivery. Additionally, recessive and X-linked conditions on clinically available carrier screening panels were evaluated to determine the number of conditions associated with abnormal ultrasound findings. RESULTS: Our retrospective chart review found 222 patients with genetic etiologies, including eight unique autosomal recessive conditions and six X-linked conditions in the 23% who underwent exome sequencing. Of these 14 unique conditions detected, three were included on a list of 271 conditions for which screening was available in 2019 and five were included on a 500 condition panel available in 2020. A literature review was performed on the list of 271 conditions and 88 were reported to be associated with one or more ultrasound abnormalities. CONCLUSION: This study demonstrates limited but potential utility for expanded carrier screening to determine the underlying etiology of congenital anomalies.

The impact of preimplantation genetic testing for aneuploidy on prenatal screening.

OBJECTIVES: To determine whether preimplantation genetic testing for aneuploidy (PGT-A) is associated with a reduced risk of abnormal conventional prenatal screening results in singleton pregnancies conceived using in vitro fertilization (IVF). METHODS: This was a retrospective cohort study of singleton IVF pregnancies conceived from a single tertiary care center between January 2014 and September 2019. Exclusion criteria included mosaic embryo transfers, vanishing twin pregnancies, and cycles with missing outcome data. Two cases of prenatally diagnosed aneuploidy that resulted in early voluntary terminations were also excluded. The primary outcome of abnormal first or second-trimester combined screening results was compared between two groups: pregnancy conceived after transfer of a euploid embryo by PGT-A vs. transfer of an untested embryo. Multivariable backwards-stepwise logistic regression with Firth method was used to adjust for potential confounders. RESULTS: Of the 419 pregnancies included, 208 (49.6%) were conceived after transfer of a euploid embryo by PGT-A, and 211 (50.4%) were conceived after transfer of an untested embryo. PGT-A was not associated with a lower likelihood of abnormal first-trimester (adjusted OR 1.64, 95% CI 0.82-3.39) or second-trimester screening results (adjusted OR 0.96, 95% CI 0.56-1.64). The incidences of cell-free DNA testing, fetal sonographic abnormalities, genetic counseling, and invasive prenatal diagnostic testing were similar between the two groups. CONCLUSIONS: Our data suggest that PGT-A is not associated with a change in the likelihood of abnormal prenatal screening results or utilization of invasive prenatal diagnostic testing. Counseling this patient population regarding the importance of prenatal screening and prenatal diagnostic testing, where appropriate, remains essential.

Audit of the appropriateness of the indication for obstetric sonography in a tertiary facility in Ghana.

INTRODUCTION: the use of ultrasound is one of the most vital tools in the management of pregnancies and contributes significantly in improving maternal and child health. Certain indications in pregnancy, guide the obstetrician as to which obstetric scan deems appropriate. The full realization of the benefits of ultrasound depends on whether it is being used appropriately or not, and hence this study aimed at auditing for the appropriate indications for obstetric ultrasound. METHODS: a review of all request forms for obstetric scan between June 2019 and July 2020 was performed to assess the appropriateness of requests for obstetric ultrasound at the Cape Coast Teaching Hospital. The data obtained was analyzed using SPSS (SPSS Inc. Chicago, IL version 20.0). A Chi-squared test of independence was used to check for statistically significant differences between variables at p ≤ 0.05. RESULTS: three hundred and fourteen (314) out of the 527 request forms had clinical indications stated. 174 (81.7%) of requests from Cape Coast Teaching Hospital and 39 (18.3%) from other health centers did not indicate patients clinical history/indication on the request forms. Majority 76 (68.5%) of scans in the first trimester were done without indications/history. Only 29 of requests with clinical history were inappropriate. CONCLUSION: practitioners should be mindful of adequately completing request forms for obstetric investigations since a large number of practitioners do not state the history/indications for the scans. There should be continuous medical education on the importance of appropriate indication for obstetric ultrasound.

Conus medullaris migration during the third trimester: A retrospective study.

OBJECTIVE: To explore the migration process of the conus medullaris (CM) and propose a normal range of CM levels during the third trimester. METHOD: We retrospectively collected the ultrasonographic and clinical data of 588 fetuses during the third trimester. We located the CM and assigned scores. One-way analysis of variance and linear regression analyses were used to statistically analyze CM migration. Statistical significance was set at p < 0.05. RESULTS: The CM levels were statistically different among the different gestational weeks of the third trimester. The CM level showed a linear regression correlation with the gestational weeks. On an average, the CM migrated from the top third of the L2 vertebra to the L1/2 intervertebral disc level. CONCLUSION: The CM continues to migrate, from the top third of the L2 vertebra to the L1/2 intervertebral disc level, during the third trimester. The term infant could have the CM at the normal adult level at birth. At the beginning of the third trimester, a CM located above the L2/3 intervertebral disc level could be normal; the CM location at the L3 vertebra level could be physiological and needs follow-up; and a CM presenting below the L3 vertebra level might indicate tethered cord syndrome. The fetus with a CM significantly above the L1/2 intervertebral disc level may have caudal regression syndrome.

Nomograms of fetal cardiothoracic ratio from 17 to 37 weeks' gestation as assessed by three different measurement techniques and their correlation with gestational age.

OBJECTIVE: To create nomograms for fetal cardiothoracic (CT) ratio as assessed by three different 2-dimensional sonographic measurements, including CT diameter, circumference, and area ratios, in Thai fetuses with a gestational age (GA) of 17-37 weeks, and to evaluate both their correlation with GA or biparietal diameter (BPD) and variability among the three measurement methods. METHODS: Two-dimensional sonographic measurements of fetal CT ratio in 4-chamber view were assessed by three different measurement techniques. The 95% reference intervals and Z-scores of all measurement methods based on GA or BPD were constructed. Intraclass correlation coefficients (ICC) for the reproducibility of each technique were compared. RESULTS: A total of 511 uncomplicated singleton pregnancies were included. The fetal CT ratio values by all measurement techniques gradually and smoothly increased with increasing GA and BPD. The fetal CT circumference ratio showed the least correlation with both GA and BPD. The intraobserver and interobserver reliability coefficients of all techniques demonstrated almost excellent agreement (all ICCs at least 0.87). CONCLUSION: Reference intervals and Z-score reference ranges were developed using three different techniques for fetal CT ratio with a GA of 17-37 weeks. These nomograms are a simple and reliable screening tool for identifying abnormal fetal heart size.

Ultrasound findings and detection of fetal abnormalities before 11 weeks of gestation.

OBJECTIVE: To determine the proportion of major fetal structural abnormalities that can be detected before 11 gestational weeks. METHODS: We conducted a retrospective study of individual patient files at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. All women who had a pre-cell-free DNA ultrasound with a crown-rump length of less than 45 mm and had one or more ultrasounds at a later gestation were included in the analysis. The primary outcome was the incidence of a fetal structural abnormality. RESULTS: A total of 3333 cases were included in the final analysis. Overall, 316 fetuses (9.5%) had a structural abnormality detected at any point throughout gestation, of which 86 were major structural abnormalities (2.6%). Sixteen fetal abnormalities were detected before 11 weeks of gestation, including 15 major abnormalities (17.4% of the major anomalies). All major fetal abnormalities detected before 11 gestational weeks were confirmed at later ultrasound examinations or the pregnancy did not continue (in four cases due to termination of pregnancy and in one case spontaneous miscarriage before first trimester morphology ultrasound). CONCLUSION: Detection of fetal abnormalities is possible before 11 weeks of gestation. Early suspicion is more likely in cases of major structural abnormalities.

Antenatal screening of small for gestational age: Impact on obstetrical management and neonatal outcomes in case of trial of labor after 37 weeks.

OBJECTIVE: Antenatal screening of small fetuses for gestational age (SGA) is a public health challenge. The aim of this study is to assess the obstetrical management and the immediate neonatal outcomes, according to the antenatal screening of the SGA fetuses. METHODS: We performed a retrospective study in a French tertiary care hospital between January 1, 2016 and December 31, 2018. Women were eligible if they had a monofetal pregnancy with a fetus in head presentation and a trial of labor after 37 weeks. A fetus was considered SGA when the estimated fetal weight was less than the 10th percentile at the third trimester ultrasound. A newborn was considered hypotrophic when the birthweight was less than the 10th percentile. RESULTS: 8 153 newborns were included and 948 of the newborns were hypotrophic (308 were suspected for SGA, 640 were not suspected for SGA) and 7205 were eutrophic. Among the hypotrophic neonates, we observed no significant difference regarding the immediate neonatal outcomes between the two groups of fetuses suspected and not suspected for SGA. Among the fetuses not suspected for SGA, the rate of arterial umbilical cord pH below 7.10 was significantly higher in the hypotrophic newborns compared to the non hypotrophic newborns (4.7% vs 3.1%, p = 0.041). CONCLUSION: In our population, unsuspected fetal hypotrophy may be associated with an increased risk of neonatal acidosis. These results emphasize the benefit of improving prenatal screening to identify the SGA fetuses.

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis.

BACKGROUND: We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. METHODS: CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic performance of the two methods, and to evaluate the screening performance of maternal age, maternal serum screening, fetal ultrasound scanning and noninvasive prenatal testing (NIPT) for fetal pathogenic copy number variation (CNV). RESULTS: Among the 9452 prenatal samples, traditional karyotyping detected 704 cases (7.5%) of abnormal cytogenetic karyotypes, 171 (1.8%) chromosome polymorphism, 20 (0.2%) subtle structural variations, 74 (0.7%) mutual translocation (possibly balanced), 52 (0.6%) without karyotyping results, and 8431 (89.2%) normal cytogenetic karyotypes. Among the 8705 cases with normal karyotype, polymorphism, mutual translocation, or marker chromosome, CNV-Seq detected 63 cases (0.7%) of pathogenic chromosome microdeletion/duplication. Retrospectively, noninvasive prenatal testing (NIPT) had high sensitivity and specificity for the screening of fetal pathogenic CNV, and NIPT combining with maternal age, maternal serum screening or fetal ultrasound scanning, which improved the screening performance. CONCLUSION: The combined application of cytogenetic karyotyping and CNV-Seq significantly improved the detection rate of fetal pathogenic chromosome microdeletion/duplication. NIPT was recommended for the screening of pathogenic chromosome microdeletion/duplication, and NIPT combining with other screening methods further improved the screening performance for pathogenic fetal CNV.

Reliability of last menstrual period recall, an early ultrasound and a Smartphone App in predicting date of delivery and classification of preterm and post-term births.

BACKGROUND: A reliable expected date of delivery (EDD) is important for pregnant women in planning for a safe delivery and critical for management of obstetric emergencies. We compared the accuracy of LMP recall, an early ultrasound (EUS) and a Smartphone App in predicting the EDD in South African pregnant women. We further evaluated the rates of preterm and post-term births based on using the different measures. METHODS: This is a retrospective sub-study of pregnant women enrolled in a randomized controlled trial between October 2017-December 2019. EDD and gestational age (GA) at delivery were calculated from EUS, LMP and Smartphone App. Data were analysed using SPSS version 25. A Bland-Altman plot was constructed to determine the limits of agreement between LMP and EUS. RESULTS: Three hundred twenty-five pregnant women who delivered at term (≥ 37 weeks by EUS) and without pregnancy complications were included in this analysis. Women had an EUS at a mean GA of 16 weeks and 3 days). The mean difference between LMP dating and EUS is 0.8 days with the limits of agreement 31.4-30.3 days (Concordance Correlation Co-efficient 0.835; 95%CI 0.802, 0.867). The mean(SD) of the marginal time distribution of the two methods differ significantly (p = 0.00187). EDDs were < 14 days of the actual date of delivery (ADD) for 287 (88.3%;95%CI 84.4-91.4), 279 (85.9%;95%CI 81.6-89.2) and 215 (66.2%;95%CI 60.9-71.1) women for EUS, Smartphone App and LMP respectively but overall agreement between EUS and LMP was only 46.5% using a five category scale for EDD-ADD with a kappa of .22. EUS 14-24 weeks and EUS < 14 weeks predicted EDDs < 14 days of ADD in 88.1% and 79.3% of women respectively. The proportion of births classified as preterm (< 37 weeks) was 9.9% (95%CI 7.1-13.6) by LMP and 0.3% (95%CI 0.1-1.7) by Smartphone App. The proportion of post-term (> 42 weeks gestation) births was 11.4% (95%CI 8.4-15.3), 1.9% (95%CI 0.9-3.9) and 3.4% (95%CI 1.9-5.9) by LMP, EUS and Smartphone respectively. CONCLUSIONS: EUS and Smartphone App were the most accurate to estimate the EDD in pregnant women. LMP-based dating resulted in misclassification of a significantly greater number of preterm and post-term deliveries compared to EUS and the Smartphone App.

Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

The objective of this study was to determine whether maternal or paternal ages have any impact on the prenatal incidence of genomic copy number variants (CNV) in fetuses with structural anomalies. We conducted a non-paired case-control study (1:2 ratio) among pregnancies undergoing chromosomal microarray analysis (CMA) because of fetal ultrasound anomalies, from December 2012 to May 2020. Pregnancies with any pathogenic copy number variant (CNV), either microdeletion or microduplication, were defined as cases. Controls were selected as the next two pregnancies with the same indication for CMA but with a normal result. Logistic regression was used, adjusting by use of assisted reproductive technology (ART) and parental smoking. Stratified analysis was performed according to CNV type (de novo/inherited and recurrent/non-recurrent). The study included 189 pregnancies: 63 cases and 126 controls. Mean maternal age in cases was 33.1 (SD 4.6) years and 33.9 (SD 6.0) years in controls. Mean paternal mean age was 34.5 (SD 4.8) years in cases and 35.8 (SD 5.8) years in controls. No significant differences in maternal or paternal age were observed, neither in stratified analysis according to the CNV type. Moreover, the proportion of cases were not significantly different between non-advanced and advanced ages, either considering paternal or maternal ages. The presence of pathogenic CNV at CMA in fetuses with structural anomalies was not found to be associated with advanced paternal or maternal age.