First Trimester Fetal Clubfoot: A Novel Presentation of Severe Osteogenesis Imperfecta.

Talipes equinovarus, also called clubfoot, is a relatively common congenital defect affecting approximately one in every 1000 live births. Most cases of clubfoot are expected to be idiopathic and unrelated to an underlying genetic syndrome. In approximately 20% of cases, a clear genetic etiology is identified. Here we present two cases of bilateral clubfoot identified via fetal ultrasound in the first trimester associated with osteogenesis imperfecta diagnosed in the second trimester. Both fetuses presented with multiple fractures and were identified to have loss-of-function variants in COL1A1. An association between clubfeet in the first trimester and osteogenesis imperfecta has not been previously reported to the best of our knowledge, which leads to unique opportunities for prompt diagnosis, genetic counseling and testing, and appropriate management.

Clinical implications of crown-rump length discordance at 11 to 14 weeks in dichorionic twins.

BACKGROUND: Crown-rump length discordance, defined as ≥10% discordance, has been investigated as an early sonographic marker of subsequent growth abnormalities and is associated with an increased risk of fetal loss in twin pregnancies. Previous studies have not investigated the prevalence of fetal aneuploidy or structural anomalies in twins with discordance or the independent association of crown-rump length discordance with adverse perinatal outcomes. Moreover, data are limited on cell-free DNA screening for aneuploidy in dichorionic twins with discordance. OBJECTIVE: This study aimed to evaluate whether crown-rump length discordance in dichorionic twins between 11 and 14 weeks of gestation is associated with a higher risk of aneuploidy, structural anomalies, or adverse perinatal outcomes and to assess the performance of cell-free DNA screening in dichorionic twin pregnancies with crown-rump length discordance. STUDY DESIGN: This was a secondary analysis of a multicenter retrospective cohort study that evaluated the performance of cell-free DNA screening for the common trisomies in twin pregnancies from December 2011 to February 2020. For this secondary analysis, we included live dichorionic pregnancies with crown-rump length measurements between 11 and 14 weeks of gestation. First, we compared twin pregnancies with discordant crown-rump lengths with twin pregnancies with concordant crown-rump lengths and analyzed the prevalence of aneuploidy and fetal structural anomalies in either twin. Second, we compared the prevalence of a composite adverse perinatal outcome, which included preterm birth at <34 weeks of gestation, hypertensive disorders of pregnancy, stillbirth or miscarriage, small-for-gestational-age birthweight, and birthweight discordance. Moreover, we assessed the performance of cell-free DNA screening in pregnancies with and without crown-rump length discordance. Outcomes were compared with multivariable regression to adjust for confounders. RESULTS: Of 987 dichorionic twins, 142 (14%) had crown-rump length discordance. The prevalence of aneuploidy was higher in twins with crown-rump length discordance than in twins with concordance (9.9% vs 3.9%, respectively; adjusted relative risk, 2.7; 95% confidence interval, 1.4-4.9). Similarly, structural anomalies (adjusted relative risk, 2.5; 95% confidence interval, 1.4-4.4]) and composite adverse perinatal outcomes (adjusted relative risk, 1.2; 95% confidence interval, 1.04-1.3) were significantly higher in twins with discordance. A stratified analysis demonstrated that even without other ultrasound markers, there were increased risks of aneuploidy (adjusted relative risk, 3.5; 95% confidence interval, 1.5-8.4) and structural anomalies (adjusted relative risk, 2.7; 95% confidence interval, 1.5-4.8) in twins with CRL discordance. Cell-free DNA screening had high negative predictive values for trisomy 21, trisomy 18, and trisomy 13, regardless of crown-rump length discordance, with 1 false-negative for trisomy 21 in a twin pregnancy with discordance. CONCLUSION: Crown-rump length discordance in dichorionic twins is associated with an increased risk of aneuploidy, structural anomalies, and adverse perinatal outcomes, even without other sonographic abnormalities. Cell-free DNA screening demonstrated high sensitivity and negative predictive values irrespective of crown-rump length discordance; however, 1 false-negative result illustrated that there is a role for diagnostic testing. These data may prove useful in identifying twin pregnancies that may benefit from increased screening and surveillance and are not ascertained by other early sonographic markers.

Basic sonographic examination of the fetal brain at 11-13 weeks' gestation: Rationale for a simple and reliable four-step technique.

The widespread incorporation of first-trimester scanning between 11 and 13 weeks' gestation has shifted from the screening of chromosomal abnormalities, mainly by measuring nuchal translucency thickness and visualization of the nasal bone, to a more detailed study of the fetal anatomy leading to early detection of several structural congenital anomalies. This goal can be improved by the routine and focused sonographic assessment of specific anatomic planes and the identification of distinctive landmarks that can help disclosing a particular, non-evident condition. In this article we present the basis for a basic, early examination of the fetal brain during screening using a four-step technique, which can be readily incorporated during the first-trimester scan. The technique includes the focused visualization of the cranial contour, choroid plexuses of the lateral ventricles and midline, aqueduct of Sylvius, brainstem, fourth ventricle, and the choroid plexus of the fourth ventricle. The rationale for this approach is presented and discussed.

First-trimester ventriculomegaly in fetuses with callosal agenesis: Cause or association?

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

Adducted Thumb in the First Trimester of Pregnancy: An Early Clue to Prenatal Diagnosis of L1 Syndrome.

A pregnant woman was revealed to have an unusual position of the fetal hand by a routine 12-week ultrasound. Bilateral adducted thumbs and a male phenotype were confirmed by another ultrasound at 14 weeks' gestation. A structural survey at 18 weeks revealed fetal hydrocephalus with severe bilateral ventriculomegaly. The pregnancy was terminated, and postnatal examination with trio exome sequencing detected a hemizygous deletion (1,511 bp in size) variant of L1CAM gene in the fetus, inherited from the mother. The fetus was diagnosed as L1 syndrome (X-linked hydrocephalus). A family study found that this was a familial mutant allele. This study demonstrates that fetal hand abnormalities can be identified in the first trimester. Adducted thumbs might indicate the maldevelopment of the fetal brain, and therefore, examination of fetal hands and fingers should be integrated into fetal anomaly scans.

Megacystis in the First Trimester as an Unreported Sonographic Finding of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Confirmed by Whole-exome Sequencing.

A pregnant woman was revealed to have fetal univentricular heart and megacystis by a routine first-trimester ultrasound. Chorionic villus sampling with the use of karyotyping and microarray found no causative etiologies. A further investigation with whole-exome sequencing (WES) demonstrated a FOXF1 variant. Autopsy confirmed the prenatal findings, and a histological study of the lungs showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). This study indicates that although ultrasound itself has no ability of the identification of pulmonary histological malformations associated with ACDMPV, the early markers of univentricular heart and megacystis might alert clinicians to consider this genetic disorder which is facilitated considerably by the increasingly used WES in prenatal diagnosis.

Low torcular Herophili position and large brainstem-tentorium angle in fetuses with open spinal dysraphism at 11-13 weeks' gestation.

OBJECTIVE: To evaluate whether in fetuses with open spina bifida (OSB) the tentorium can be seen to be displaced downwards and vertically oriented by the time of the 11-13-week scan and whether this is reflected in an alteration of the brainstem-tentorium (BST) angle. METHODS: The study population was recruited between 2015 and 2020 from three fetal medicine referral centers and comprised a control group and a study group of pregnancies with OSB. The control group was recruited prospectively and included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome. The study group was selected retrospectively and included all cases with OSB between 2015 and 2020. All cases underwent detailed ultrasound assessment at 11 + 0 to 13 + 6 weeks' gestation. The position of the torcular Herophili (TH) was identified in the midsagittal view of the fetal brain with the use of color Doppler and was considered as a proxy for the insertion of the tentorium on the fetal skull. The BST angle was calculated in the same view and was compared between the two groups. RESULTS: Sixty normal fetuses were included in the control group and 22 fetuses with OSB in the study group. In both groups, the BST angle was found to be independent of gestational age or crown-rump length (P = 0.8815, R2 = 0.0003861 in the controls, and P = 0.2665, R2 = 0.00978 in the OSB group). The mean BST angle was 48.7 ± 7.8° in controls and 88.1 ± 1.18°, i.e. close to 90°, in fetuses with OSB. Comparison of BST-angle measurements between the control group and cases with OSB showed a statistically significant difference (P = 0.0153). In all fetuses with OSB, the downward displacement of the TH and tentorium was clearly visible at the 11-13-week scan. CONCLUSIONS: In fetuses with OSB, the BST angle is significantly larger than in normal controls, with the tentorium being almost perpendicular to the brainstem. This sign confirms the inferior displacement of the tentorium cerebelli with respect to its normal insertion on the occipital clivus as early as the first trimester of pregnancy and is useful in the diagnosis of Chiari-II malformation at this early stage. In fetuses with OSB, the low position of the tentorium and TH is clearly visible, even subjectively, at the 11-13-week scan. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

The impact of high-frequency linear transducer on the accuracy of pelvic ultrasound in early pregnancy pelvic pain and bleeding.

INTRODUCTION: The primary concern of emergency physicians (EPs) in symptomatic patients in their early pregnancy is to rule out ectopic pregnancy by identifying a definite intrauterine pregnancy (IUP). Then an assessment of viability is required for the IUPs. Although transvaginal ultrasound (TVUS) stands as the best modality for these patients, it is not available in most emergency settings. This study aimed to investigate the effects of high-frequency linear transducers (HFLT) on the accuracy of point-of-care ultrasound (POCUS) for detection of IUP and the agreement between EPs and obstetricians for patients' diagnosis. METHOD: A convenience sample of pregnant patients who presented to the emergency department (ED) with vaginal bleeding and abdominopelvic pain was included. The characteristics of diagnostic tests of transabdominal POCUS performed by EPs were compared to TVUS. RESULTS: The study population was finalized as 143 patients. For the definite IUP, the diagnostic accuracy of POCUS was 93.0%, with a sensitivity of 89.0%, a specificity of 100%, compared to an accuracy of 97.9% for POCUS plus HFLT with a sensitivity of 96.7%, a specificity of 100%. For the identification of fetal cardiac activity (FCA), utilizing HFLT improved the diagnostic accuracy to 97.9% (from 94.4%) and sensitivity to 95.5% (from 88.1%). In addition, the agreement between the EPs and obstetricians concerning the classification of ED diagnosis was excellent (agreement: 96.5%, kappa: 0.943, p < 0.0001). CONCLUSION: POCUS plus HFLT performed by EPs in evaluating symptomatic patients in their first-trimester pregnancy improves the accuracy to a non-inferior level compared to TVUS performed by obstetricians. Hence, EPs can securely rely on POCUS to confirm IUP and FCA. However, they should be cautious about using it as a rule-out tool. Moreover, HFLT use could enhance the accuracy of POCUS in viability assessment as an alternative to TVUS.

FundAl Retroflexion (FAR) Angle is a Novel Sonographic Marker Associated With Cesarean Scar Pregnancies in the First Trimester: A Case-Control Study.

OBJECTIVES: Early diagnosis of Cesarean scar pregnancies (CSP) remains difficult. This study describes a novel sonographic marker, the FundAl Retroflexion (FAR) angle, that may be used in the first trimester. The objective of the study is to compare the FAR angle between CSP and normal pregnancies. METHODS: For this case-control study, we reviewed images from our institution's database that were acquired from January 2016 to December 2019. All cases of CSP and randomly selected controls, defined as patients with history of Cesarean delivery and normal implantation, that underwent ultrasound evaluation at <14 weeks were included. The FAR angle, defined as the acute angle created between the endometrial echo and cervical canal, was measured. The mean FAR angle was then compared between the two groups and a receiver operating characteristic (ROC) curve was generated. RESULTS: We identified 15 cases of CSP during the study period and were able to measure the FAR angle in 14 of the cases. The mean FAR angle was larger in CSP than in normal control pregnancies (45° versus 27°, respectively, P < 0.001). Using an ROC curve, a FAR angle cut off of 40° maximizes the ability to distinguish between CSP from normal pregnancies. CONCLUSIONS: The FAR angle provides an easily obtainable and numerical measurement. CSP have larger FAR angle compared to normal controls with a distinguishing cut off of 40°. Larger studies are needed to determine if using the FAR angle can improve first trimester diagnosis for CSP.

Low first trimester maternal serum PAPP-A concentrations in women with non-cavity-distorting intramural uterine fibroids.

OBJECTIVE: Reliable aneuploidy risk estimation in first trimester is prominently interconnected with accurate assessment of maternal serum biomarkers. Some maternal factors like insulin-dependent diabetes, weight, and rhesus status are known to alter levels of these biomarkers. Adjustment of biomarker values for specific factor is crucial to avoid excessive invasive procedures or missed diagnoses. We aimed to investigate the effects of noncavity distorting intramural uterine fibroids on first trimester aneuploidy screening test maternal serum biomarkers. METHODS: Pregnant women who underwent first trimester aneuploidy screening test in a single tertiary center between 2011 and 2020 were retrospectively assessed. One hundred ninety-eight women were found to have at least one noncavity distorting intramural uterine leiomyoma (Figo type 3-6) of at least 2 cm diameter and remaining women were assigned as controls. First trimester aneuploidy screening test parameters were compared. RESULTS: Pregnancy associated plasma protein-A (PAPP-A) MoMs were found significantly lower in leiomyoma group in comparison to control group (1.19 ± 0.60 MoM vs. 1.40 ± 0.73 MoM, p = 0.002). PAPP-A MoMs in women with leiomyomas larger than 5.5 cm were significantly lower in comparison to both control group and women with ≤5.5 cm leiomyomas (0.82 ± 0.376 vs. 1.40 ± 0.73, p < 0.001; 0.82 ± 0.376 vs. 1.33 ± 0.61 p < 0.001, respectively). PAPP-A MoM and size of leiomyoma were found inversely correlated when fibroid size exceeds 5.5 cm (r = -0.467, p < 0.001). CONCLUSION: Noncavity distorting intramural uterine leiomyomas >5.5 cm are associated with low first trimester PAPP-A MoMs (<0.5). PAPP-A concentrations are inversely correlated with fibroid size in women with >5.5 cm intramural uterine leiomyomas. Fibroids ≤5.5 cm are not associated with alterations in first trimester aneuploidy screening test parameters.

Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion.

First trimester ultrasound screening is an essential fetal examination performed generally at 11-13 weeks of gestation (WG). However, it does not allow for an accurate description of all fetal organs, partly due to their development in progress. Meanwhile, increased nuchal translucency (INT) is a widely used marker known to be associated with chromosomal deleterious rearrangements. We report on a 14 WG fetus with an association of INT and univentricular congenital heart malformation (CHM) leading to chorionic villous sampling (CVS). Cytogenetic investigations performed using array-Comparative Genomic Hybridization (CGH) and fluorescence in situ hybridization (FISH) demonstrated a 1.17 Mb deletion in 16q24.1 encompassing FOXF1 arisen de novo on maternal inherited chromosome. Fetopathological study confirmed CHM with hypoplastic left heart syndrome (HLHS) associating aortic atresia, mitral stenosis, and left ventricular hypoplasia and revealed in addition specific lung lesions corresponding to alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). This is so far the first case of first trimester prenatal diagnosis of ACDMPV due to the deletion of FOXF1 gene. An interpretation of the complex genomic data generated by ultrasound markers is facilitated considerably by the genotype-phenotype correlations on fetopathological examination.

Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis.

BACKGROUND: The significant number of qualitative and quantitative ultrasound markers described for first-trimester screening of open spina bifida (OSB) and other posterior brain defects (oPBD) has resulted in their complex implementation and interpretation for a widespread screening and in a lack of consensus regarding diagnostic accuracy. OBJECTIVES: To assess and compare the accuracy of qualitative and quantitative cranial sonographic markers at 11-14 weeks of gestation for the detection of OSB and oPBD. SEARCH STRATEGY: A systematic literature search was performed in MEDLINE and COCHRANE from 2009 to April 2020. SELECTION CRITERIA: Studies assessing the diagnostic accuracy of quantitative and/or qualitative ultrasound signs to predict OSB and oPBD were included. Cohort studies and case-control studies were also considered. DATA COLLECTION AND ANALYSIS: Two reviewers independently extracted data and assessed the risk of bias. The overall pooled estimate and a summary receiver operating characteristic curve was estimated for each subgroup (qualitative and quantitative assessment). MAIN RESULTS: Twenty-three studies were included in our meta-analysis. The pooled sensitivity and specificity for qualitative assessment were 76.5% and 99.6%, and for quantitative assessment were 84.5% and 96.3%, respectively; specificity for the qualitative ultrasound signs was significantly higher (P = 0.001). The overall sensitivity of cranial sonographic markers for the screening of oPBD was 76.7% and specificity was 97.5%. CONCLUSIONS: The qualitative approach demonstrated greater specificity, so this would appear to be more appropriate for daily screening, as a first-line tool, whereas the quantitative approach should be reserved for expert ultrasound. TWEETABLE ABSTRACT: This study highlights the relevance of first-trimester qualitative ultrasound signs in the screening of open spina bifida.

Transvaginal Color Mapping Ultrasound in the First Trimester Predicts Placenta Accreta Spectrum: A Retrospective Cohort Study.

OBJECTIVES: Ultrasound (US) prediction of placenta accreta spectrum (PAS) in the first trimester may be aided by postprocessing mechanisms employing color pixel quantification near the bladder-uterine serosal interface. Our objective was to create a postprocessing algorithm of color images to identify findings associated with PAS and compare quantification to sonologist impression in prospectively obtained cine US images. METHODS: Transverse transvaginal (TV) US color cines obtained in the first trimester as part of a prospective study were reviewed. Investigators blinded to clinical outcomes reviewed anonymized cines that were archived and labeled the bladder-uterine serosal interface. Color pixels within 2 cm of the defined bladder-uterine serosal interface were ascertained using a Python-based plugin in the Horos open-source DICOM viewer. A sonologist classified the findings as suspicious for invasion, indeterminate, or normal. Statistical analysis was performed using Wilcoxon rank-sum test, Cochran-Armitage trend test, and calculation of receiver-operating characteristic (ROC) curves. RESULTS: Fifty-four studies met inclusion criteria. Of those, six (11%) required hysterectomy with pathologic confirmation of PAS. Women requiring hysterectomy had a significantly higher color Doppler pixel area than those not requiring hysterectomy (P = .0205). A significant trend was identified in the sonologist impression of invasion (P = .0003). ROC's comparing sonologist impression to Doppler color imaging areas were comparable (P = .054). CONCLUSIONS: Color Doppler mapping in the first trimester showed an increase in color pixel area near the bladder-uterine serosal interface in women requiring cesarean hysterectomy with histologically confirmed PAS at time of delivery, compared to women without hysterectomy or pathologic evidence of PAS.

Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?

OBJECTIVE: To assess the frequency of atypical chromosomal and submicroscopic anomalies, as well as fetal structural abnormalities, observed on first-trimester ultrasound scan in fetuses with nuchal translucency (NT) thickness > 99th centile, in order to evaluate the suitability of using standard cell-free DNA (cfDNA) testing as the sole screening test in these pregnancies. METHODS: This was a retrospective cohort study of 226 fetuses with NT > 99th centile at 11-14 weeks' gestation, between January 2013 and December 2017, in a clinical setting in which greater than 95% of pregnant women receive first-trimester combined screening. All patients underwent genetic testing by means of quantitative fluorescence polymerase chain reaction and chromosomal microarray analysis, mainly in chorionic villus samples. We assessed the theoretical yield of two cfDNA testing models, targeted cfDNA (chromosomes 21, 18 and 13) and extended cfDNA (chromosomes 21, 18, 13 and sex chromosomes), and compared it with that of cytogenetic testing and ultrasound assessment in the first and second or third trimesters. RESULTS: In the 226 fetuses analyzed, cytogenetic testing revealed 84 (37%) anomalies, including 68 typical aneuploidies (involving chromosomes 13, 18 or 21), six sex chromosome aneuploidies (four cases of monosomy X and two of trisomy X), three clinically relevant atypical chromosomal anomalies (one trisomy 22, one trisomy 21 mosaicism and one unbalanced translocation), five submicroscopic pathogenic variants and two cases with Noonan syndrome. Targeted and extended cfDNA testing would miss at least 12% (10/84) and 19% (16/84), respectively, of genetic anomalies, accounting for 4.4% and 7.1% of the fetuses with an increased NT, respectively. Finally, of the 142 fetuses with no identified genetic anomaly, a major fetal malformation was observed in 15 (10.6%) fetuses at the early anomaly scan, and in 19 (13.4%) in the second or third trimester. CONCLUSIONS: cfDNA does not appear to be the appropriate genetic test in fetuses with NT > 99th centile, given that it would miss 12-19% of genetic anomalies in this group. Additionally, first-trimester ultrasound will identify a major structural abnormality in 11% of the fetuses with NT > 99th centile and no genetic anomaly. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Prevention of stillbirth: impact of two-stage screening for vasa previa.

OBJECTIVES: To examine the feasibility and effectiveness of a two-stage ultrasound screening strategy for detection of vasa previa and to estimate the potential impact of screening on prevention of stillbirth. METHODS: This was a retrospective study of data from prospective screening for vasa previa in singleton pregnancies, undertaken at the Fetal Medicine Unit at Medway Maritime Hospital, UK, between 2012 and 2018. Women booked for prenatal care and delivery in our hospital had routine ultrasound examinations at 11-13 and 20-22 weeks' gestation. Those with velamentous cord insertion at the inferior part of the placenta at the first-trimester scan and those with low-lying placenta at the second-trimester scan were classified as high-risk for vasa previa and had transvaginal sonography searching specifically for vasa previa, at the time of the 20-22-week scan. The management and outcome of cases with suspected vasa previa is described. We excluded cases of miscarriage or termination at < 24 weeks' gestation. RESULTS: The study population of 26 830 singleton pregnancies included 21 (0.08%; 1 in 1278) with vasa previa. In all cases of vasa previa, the diagnosis was made at the 20-22-week scan and confirmed postnatally by gross and histological examination of the placenta. At the 11-13-week scan, cord insertion was classified as central in 25 071 (93.4%) cases, marginal in 1680 (6.3%), and velamentous in 79 (0.3%). In 16 (76.2%) of the 21 cases of vasa previa, cord insertion at the first-trimester scan was classified as velamentous at the inferior part of the placenta, in two cases (9.5%) as marginal and in three cases (14.3%) as central. The 21 cases of vasa previa were managed on an outpatient basis with serial scans for measurement of cervical length and elective Cesarean section at 34 weeks' gestation; all babies were liveborn but there was one neonatal death. In the study population, there were 83 stillbirths, none of which had evidence of vasa previa on postnatal examination. On the assumption that, if we had not diagnosed prenatally all 21 cases of vasa previa in our population, half of these cases would have resulted in stillbirth, then the potential impact of screening is prevention of 10.6% (10/94) of stillbirths. CONCLUSION: A two-stage strategy of screening for vasa previa can be incorporated into routine clinical practice, and such a strategy could potentially reduce the rate of stillbirth. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Prospective First-Trimester Ultrasound Imaging of Low Implantation and Placenta Accreta Spectrum.

OBJECTIVES: To prospectively evaluate low implantation of the gestational sac and other first-trimester ultrasound (US) parameters for prediction of placenta accreta spectrum (PAS). METHODS: Women with a diagnosis of low implantation on clinically indicated first-trimester US underwent a transvaginal US examination at 10 to 13 weeks' gestation to assess the trophoblast location, anechoic areas, bridging vessels, and smallest myometrial thickness (SMT). The placental location was evaluated in the second trimester, and serial US examinations were performed in cases of low placentation. Placenta accreta spectrum was based on clinical findings and confirmed by histologic results. RESULTS: Of 68 women, 40 (59%) had prior cesarean delivery (CD). Hysterectomy was performed in 8, all with prior CD. Of these, 7 (88%) had US suspicion of PAS. In 16 with prior CD and basalis overlying the internal os, 9 (56%) had second-trimester placenta previa, and 7 of 9 (78%) underwent hysterectomy with pathologic confirmation of PAS. Of 28 without prior CD, there were no cases of persistent low placentation in the third trimester regardless of the trophoblast location. Ultrasound parameters associated with PAS were a smaller distance from the inferior trophoblastic border to the external os, disruption of the bladder-serosal interface, bridging vessels, anechoic areas, and the SMT. In women with prior CD, use of the SMT in the sagittal plane yielded an area under the receiver operating characteristic curve of 0.96 (95% confidence interval, 0.91-1.00). CONCLUSIONS: First-trimester low implantation increases the risk of persistent placenta previa and PAS in women with prior CD. All parameters were associated with PAS, the most predictive being the SMT.

An Unusual First-Trimester Ultrasound Presentation of the Acrania-Anencephaly Sequence: The "Turkish Turban" Sign.

A previously unrecognized first-trimester presentation of the acrania-anencephaly sequence is described. Ultrasound features included a constriction ring around the external base of the developing skull and an enlarged globular head, resembling a Turkish turban, with large cystic spaces replacing the brain. This constellation of findings was noted in 3 first-trimester fetuses. In 2 of them, it was possible to identify the amniotic membrane attached to the constriction ring. One case presented with anencephaly and fetal demise at 16 weeks. The other 2 women terminated the pregnancies and aborted anencephalic fetuses. This subtype of the acrania-anencephaly sequence could represent an earlier segmental rupture of the amnion, which subsequently entraps the developing fetal skull.

Ultrasound Appearances of the Acrania-Anencephaly Sequence at 10 to 14 Weeks' Gestation.

OBJECTIVES: The acrania-anencephaly sequence is a lethal condition with a high detection rate in experienced hands after 10 weeks' gestation. However, earlier in gestation, many cases remain undetected. Different phenotypic appearances have been described and might help increase the detection rate in less experienced hands and also earlier in gestation. The purpose of this study was to assess interobserver reliability in classifying cases of the acrania-anencephaly sequence during first trimester in 6 different subtypes according to their ultrasound appearances. METHODS: This was a retrospective descriptive cohort study at 3 centers for fetal imaging. Each case was classified according to its phenotypic appearance by 2 independent operators as "bilobular," "cystic," "elongated," "irregular," "foreshortened," or "overhanging." Frequencies of each type are described, and interoperator agreement was assessed with the intraclass correlation coefficient. RESULTS: From the 88 included cases, the frequencies of the different subtypes classified as overhanging, elongated, bilobular, cystic, foreshortened, and irregular were 31%, 25%, 19%, 11%, 8%, and 6%, respectively. The interoperator reliability was good, with an intraclass correlation coefficient of 0.903 (95% confidence interval, 0.853-0.937; P < .001). CONCLUSIONS: Using different subtypes may improve the detection of the acrania-anencephaly sequence. An accurate early diagnosis could lead to timely, less traumatic, and safer management of affected pregnancies.

Outcome of the fetuses with severely increased nuchal translucency thickness in the first trimester.

AIM: To study the outcome of pregnancies with severely increased nuchal translucency (NT) thickness at the 11-13-week scan. METHODS: This study included 162 singleton pregnancies whose fetuses had increased NT thickness ≥ 5.5 mm between September 2013 and August 2018. The cases were divided into two groups: NT ≥ 6.5 mm (n = 112) (group A); and 6.5 mm > NT ≥ 5.5 mm (n = 50) (group B). Fetal (amniotic fluid) or placental (chorionic villous) chromosome analyses were conducted. Subsequent ultrasound findings, pregnancy outcome and structural defects in the neonates were recorded and analyzed. RESULTS: Abnormal karyotype was found in 71% (60/84) (group A) and 57% (21/37) (group B) of the cases respectively. In group A, 15 cases out of 24 with normal karyotype were born. Among these 15 cases, one case died soon after birth and 5 cases had associated abnormalities. In group B, 13 cases out of 18 with normal karyotype or negative noninvasive prenatal testing results and 1 case out of 2 cases with 47,XXY were born. All of them survived with no major anomaly. CONCLUSION: Incidence of chromosomal aberrations was high in the cases with severely increased NT thickness. But favorable outcome could be expected if the fetus had no chromosomal abnormality and no abnormal findings were found in second trimester ultrasound scan especially in a fetus with increased NT < 6.5 mm.

A cross-sectional study of maternal-fetal attachment and perceived stress at the first antenatal visit.

BACKGROUND: Maternal-fetal attachment (MFA) psychologically is well described. Suboptimal attachment may have negative consequences particularly if it is associated with unhealthy maternal behaviour that may potentially increase the risk of adverse pregnancy outcomes. The perception of stress or anxiety is also associated with potential adverse outcomes including preterm birth. OBJECTIVE: This cross-sectional study examined MFA and perceived stress at the time of the first ultrasound examination in early pregnancy. METHODS: Convenience sampling was used to recruit women after they presented to the Ultrasound Department for a routine dating ultrasound at their first antenatal visit. Informed consent was obtained and clinical and sociodemographic details were recorded. Women were invited to complete validated Cranley MFA and Perceived Stress Scale (PSS) questionnaires. RESULTS: Of the 90 women recruited, 80 completed the questionnaires successfully. No association was found between the MFA score and maternal age, parity, education, marital status, previous pregnancy loss or smoking behaviour. An unplanned pregnancy was associated with a lower mean MFA score (p < 0.01) and a higher mean PSS score (p < 0.005). These relationships persisted in a multiple regression analysis controlling for maternal age and parity. CONCLUSION: In early pregnancy, an unplanned pregnancy is associated with a lower MFA and higher PSS score. Additional research is required to assess if this persists as pregnancy advances. ABBREVIATIONS: Maternal-Fetal Attachment (MFA), Maternal-Fetal Attachment Scale (MFAS), Perceived stress scale (PSS), Maternal Antenatal Attachment Scale (MAAS), Standard Deviation (SD), Central Statistics Office (CSO), Body Mass Index (BMI), Relative Risk (RR).