Prenatal diagnosis of a de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis and right clubfoot on prenatal ultrasound.

OBJECTIVE: We present prenatal diagnosis of de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis on prenatal ultrasound. CASE REPORT: A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Level II ultrasound at 22 weeks of gestation revealed bilateral hydronephrosis and right clubfoot. At 23 weeks of gestation, repeat amniocentesis revealed the result of arr [GRCh37] 10p12.1p11.23 (26,182,512-29,826,276) × 1 dn with a 3.6-Mb microdeletion of 10p12.1p11.23 encompassing the genes of MYO3A, GAD2, APBB1IP, PDSS1, ABI1, ANKRD26, YME1L1, MASTL, ACBD5, PTCHD3, RAB18, MKX, ODAD2, MPP7, WAC and BAMBI. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of low-set ears, broad forehead and flat nasal bridge. Array comparative genomic hybridization (aCGH) analysis of umbilical cord confirmed a 3.6-Mb 10p12.1p11.23 microdeletion encompassing WAC. CONCLUSION: Application of aCGH is useful in the pregnancy with a normal fetal karyotype and abnormal fetal ultrasound.

[Ultrasonic convex array probe applied to increase success rate of external cephalic version without anesthesia].

Objective: To explore the feasibility of using ultrasonic convex array probe compressing abdominal wall to increase success rate of external cephalic version (ECV) without anesthesia in full-term and near-term pregnancy. Methods: Totally 190 singleton and non-cephalic presentation pregnant women in 36-39+4 weeks of gestation performed ECV from April 2019 to August 2023 in the First Affiliated Hospital of Nanjing Medical University were analyzed. According to whether use the ultrasound probe compressing fetal breech or not, the pregnant women were divided into two groups: 81 cases in the probe-compressing group (including primipara 61 cases and multipara 20 cases) and 109 cases in the non-probe-compressing group(including primipara 72 cases and multipara 37 cases). Clinical data, ECV related factors and complications were analyzed and compared between the two groups. Results: (1) The overall success rate of ECV was 64.2% (122/190). There was no significant difference in the success rate of ECV between probe-compressing group and non-probe-compressing group [69.1% (56/81) vs 60.6% (66/109), χ2=1.490, P=0.222]. The total vaginal delivery rate after successful ECV was 81.1% (99/122), while 71.1% (54/76) in primipara and 97.8% (45/46) in multipara, respectively. (2) Compare to the non-probe-compressing group, the success rate of ECV in primipara was significantly higher in the probe-compressing group [45.8% (33/72) vs 70.5% (43/61)], but the gestational age was shorter and the height was higher in the probe-compressing group (all P<0.05). The success rate of ECV of multipara in the probe-compressing group (65.0%, 13/20) was lower than that in the non-probe-compressing group (89.2%, 33/37), but there was no significant difference between the two groups (P>0.05). (3) Multivariate logistic regression analysis showed that abdominal wall compressed by ultrasound probe (OR=2.601, 95%CI: 1.113-6.075; P=0.027) and amniotic fluid index (AFI; OR=1.010, 95%CI: 1.001-1.020; P=0.028) were positive factors for the successful rate of ECV in primipara pregnant women. (4) The main complication of ECV was transient fetal heart rate reduction (8.9%,17/190), the incidence in the probe-compressing group was significantly higher than that in the non-probe-compressing group [14.8% (12/81) vs 4.6% (5/109); χ2=5.967, P=0.015]. No statistical differences were found in rates of complications between the ECV successful and unsuccessful pregnant women, and between probe-compressing and non-probe-compressing groups (all P>0.05). No adverse maternal and neonatal outcomes related to ECV were observed. Conclusions: The ultrasonic convex array probe compressing could significantly improve the success rate of ECV in primipara without increasing the incidence of adverse maternal and fetal outcomes. The success rate of ECV in primipara is influenced by AFI and operation mode.

Effectiveness and pregnancy outcomes of ultrasound-indicated and physical examination-indicated cervical cerclage: a retrospective study from a single centre.

OBJECTIVE: Preterm birth (PTB) is the leading cause of neonatal morbidity and mortality worldwide, and cervical incompetence (CIC) is a significant contribution. Cervical cerclage (CC) is an effective obstetric intervention. However, many clinical factors affect the success rate of surgery. The objective was to investigate and compare the pregnancy and neonatal outcomes of patients who underwent ultrasound- and physical examination-indicated cervical cerclage and to explore the influencing factors of preterm delivery before 34 weeks. METHODS: The sociodemographic characteristics and clinical data of patients with a diagnosis of cervical incompetence who underwent ultrasound- and physical examination-indicated transvaginal cervical cerclage at Nanjing Maternal and Child Health Hospital from January 2020 to December 2022 were retrospectively analyzed. The pregnancy and neonatal outcomes of the patients were evaluated. Continuous variables were compared using Student's t test (for normally distributed data) or the Mann-Whitney U test (for nonnormally distributed data). Categorical variables were analysed using the chi-square test or Fisher's exact test. Additionally, logistic regression analyses and receiver operating characteristic curves were used to evaluate the associations of inflammatory markers with maternal and neonatal outcomes. RESULTS: This study included 141 participants who underwent cervical cerclage, including 71 with ultrasound-indicated cerclage and 70 with physical examination-indicated cerclage. Compared to those in the ultrasound-indicated cerclage group, the duration from cerclage to delivery, birth weight, and APGAR score in the physical examination-indicated cerclage group were significantly lower, and the rates of delivery at < 28 weeks, < 32 weeks, < 34 weeks, and < 37 weeks of gestation and neonatal mortality were significantly higher (all P < 0.05). Compared to those in the physical ultrasound-indicated cerclage group, in the physical examination-indicated cerclage group, maternal blood inflammatory markers, such as C-reactive protein (CRP), the systemic immune-inflammation index (SII) and the systemic inflammation response index (SIRI) were significantly higher (P < 0.05). Additionally, maternal blood inflammatory markers, such as the CRP, white blood cell count, platelet to lymphocyte ratio (PLR), SII, and SIRI were significantly higher in the group with delivery before 34 weeks of gestation. Furthermore, the results demonstrated that twin pregnancy had the highest OR for preterm delivery before 34 weeks of gestation (OR = 3.829; 95% CI 1.413-10.373; P = 0.008), as well as the following: the SII level (OR = 1.001; 95% CI 1.000-1.002; P = 0.003) and CRP level (OR = 1.083; 95% CI 1.038-1.131; P = 0.022). The risk factors for preterm delivery before 34 weeks of gestation were twin gestation, an increased SII level and an increased CRP level, which had good combined predictive value. CONCLUSION: In patients with cervical insufficiency, ultrasound-indicated cervical cerclage appears to lead to better pregnancy outcomes than physical examination-indicated cerclage. Twin pregnancy and maternal blood inflammatory markers, such as the CRP level and the SII, are associated with preterm delivery before 34 weeks of gestation.

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.

To evaluate the genetic etiology of fetal dextrocardia, associated ultrasound anomalies, and perinatal outcomes, we investigated the utility of whole exome sequencing (WES) for prenatal diagnosis of dextrocardia. Fetuses with dextrocardia were prospectively collected between January 2016 and December 2022. Trio-WES was performed on fetuses with dextrocardia, following normal karyotyping and/or chromosomal microarray analysis (CMA) results. A total of 29 fetuses with dextrocardia were collected, including 27 (93.1%) diagnosed with situs inversus totalis and 2 (6.9%) with situs inversus partialis. Cardiac malformations were present in nine cases, extra-cardiac anomalies were found in seven cases, and both cardiac and extra-cardiac malformations were identified in one case. The fetal karyotypes and CMA results of 29 cases were normal. Of the 29 cases with dextrocardia, 15 underwent WES, and the other 14 cases refused. Of the 15 cases that underwent WES, clinically relevant variants were identified in 5/15 (33.3%) cases, including the diagnostic variants DNAH5, DNAH11, LRRC56, PEX10, and ZIC3, which were verified by Sanger sequencing. Of the 10 cases with non-diagnostic results via WES, eight (80%) chose to continue the pregnancies. Of the 29 fetuses with dextrocardia, 10 were terminated during pregnancy, and 19 were live born. Fetal dextrocardia is often accompanied by cardiac and extra-cardiac anomalies, and fetal dextrocardia accompanied by situs inversus is associated with a high risk of primary ciliary dyskinesia. Trio-WES is recommended following normal karyotyping and CMA results because it can improve the diagnostic utility of genetic variants of fetal dextrocardia, accurately predict fetal prognosis, and guide perinatal management and the reproductive decisions of affected families.

Prenatal diagnosis in estimating the prognosis of sacrococcygeal teratoma.

: Sacrococcygeal teratoma is a rare congenital malformation, the prognosis depends on factors affecting foetal development. The diagnosis is based on ultrasound examination, especially the evaluation of the detailed morphology of the foetus in the 20th week of pregnancy. Therefore, it is crucial to keep looking for ultrasound markers that would prenatally determine the most accurate prognosis for the foetus. Now, we rely on a small number of studies with a predominance of case reports. We offer a literature review of the essential information concerning sacrococcygeal teratoma diagnostics, therapy, and complications of sacrococcygeal teratomas in connection with prenatal diagnosis. It turns out that in cases with a favourable prognosis according to prenatal ultrasound examination and adequate surgical treatment after childbirth, the prognosis of this congenital malformation is excellent.

Ensemble learning for fetal ultrasound and maternal-fetal data to predict mode of delivery after labor induction.

Providing adequate counseling on mode of delivery after induction of labor (IOL) is of utmost importance. Various AI algorithms have been developed for this purpose, but rely on maternal-fetal data, not including ultrasound (US) imaging. We used retrospectively collected clinical data from 808 subjects submitted to IOL, totaling 2024 US images, to train AI models to predict vaginal delivery (VD) and cesarean section (CS) outcomes after IOL. The best overall model used only clinical data (F1-score: 0.736; positive predictive value (PPV): 0.734). The imaging models employed fetal head, abdomen and femur US images, showing limited discriminative results. The best model used femur images (F1-score: 0.594; PPV: 0.580). Consequently, we constructed ensemble models to test whether US imaging could enhance the clinical data model. The best ensemble model included clinical data and US femur images (F1-score: 0.689; PPV: 0.693), presenting a false positive and false negative interesting trade-off. The model accurately predicted CS on 4 additional cases, despite misclassifying 20 additional VD, resulting in a 6.0% decrease in average accuracy compared to the clinical data model. Hence, integrating US imaging into the latter model can be a new development in assisting mode of delivery counseling.

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.

BACKGROUND: TBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound heterozygosity of disruptive variants in trans with a common hypomorphic risk haplotype (T-C-A) in the TBX6 gene contribute to 10% of congenital scoliosis (CS) cases. The deletion of chromosome 17q12 is a rare cytogenetic abnormality, which often leads to renal cysts and diabetes mellitus. However, the affected individuals often exhibit clinical heterogeneity and incomplete penetrance. METHODS: We here present a Chinese fetus who was shown to have CS by ultrasound examination at 17 weeks of gestation. Trio whole-exome sequencing (WES) was performed to investigate the underlying genetic defects of the fetus. In vitro functional experiments, including western-blotting and luciferase transactivation assay, were performed to determine the pathogenicity of the novel variant of TBX6. RESULTS: WES revealed the fetus harbored a compound heterozygous variant of c.338_340del (p.Ile113del) and the common hypomorphic risk haplotype of the TBX6 gene. In vitro functional study showed the p.Ile113del variant had no impact on TBX6 expression, but almost led to complete loss of its transcriptional activity. In addition, we identified a 1.85 Mb deletion on 17q12 region in the fetus and the mother. Though there is currently no clinical phenotype associated with this copy number variation in the fetus, it can explain multiple renal cysts in the pregnant woman. CONCLUSIONS: This study is the first to report a Chinese fetus with a single amino acid deletion variant and a T-C-A haplotype of TBX6. The clinical heterogeneity of 17q12 microdeletion poses significant challenges for prenatal genetic counseling. Our results once again suggest the complexity of prenatal genetic diagnosis.

Application of ultrasonographic human estimated foetal weight formulas to cynomolgus monkeys (Macaca fascicularis) at 129-132 days of gestation: A comparative study of estimated and actual birthweight.

BACKGROUND: Cynomolgus monkeys (Macaca fascicularis) are essential in biomedical research, including reproductive studies. However, the application of human estimated foetal weight (EFW) formulas using ultrasonography (USG) in these non-human primates is not well established. OBJECTIVES: This study aims to evaluate the applicability of human EFW formulas for estimating foetal weight in cynomolgus monkeys at approximately 130 days of gestation. METHODS: Our study involved nine pregnant cynomolgus monkeys. We measured foetal parameters, including biparietal diameter, head circumference, abdominal circumference and femur length using USG. The EFW was calculated using 11 human EFW formulas. The actual birthweight (ABW) was recorded following Cesarean section, the day after the EFW calculation. For comparing EFW and ABW, we employed statistical methods such as mean absolute percentage error (APE) and Bland-Altman analysis. RESULTS: The ABW ranged between 200.36 and 291.33 g. Among the 11 formulas, the Combs formula showed the lowest APE (4.3%) and highest correlation with ABW (p < 0.001). Notably, EFW and ABW differences for the Combs formula were ≤5% in 66.7% and ≤10% in 100% of cases. The Bland-Altman analysis supported these results, showing that all cases fell within the limits of agreement. CONCLUSIONS: The Combs formula is applicable for estimating the weight of cynomolgus monkey fetuses with USG at approximately 130 days of gestation. Our observations suggest that the Combs formula can be applied in the prenatal care and biomedical research of this species.

Intrauterine fetal death due to rupture of umbilical vessels: a rare case of furcate cord insertion.

Furcate cord insertion refers to the separation of umbilical vessels before reaching the placenta, where the branching vessels normally attach at the edge of the placental parenchyma or near the placental membranes. This is an extremely rare abnormal umbilical cord insertion. This paper reported a case of a furcate cord insertion, where the rupture of exposed umbilical vessels led to intrauterine fetal death at full term. Through literature review, we analyzed the prenatal ultrasound characteristics and pregnancy outcomes of furcate cord insertions, with the aim to improve detection rates and reduce the risk of adverse pregnancy outcomes.

Review of speckle tracking analysis to measure the size, shape, and contractility of the fetal heart in fetuses with congenital heart defects.

Evaluation of the fetal heart involves two approaches. The first describes a screening protocol in which the heart is imaged in transverse planes that includes the four-chamber view (4CV), left and right outflow tracts, and the 3-vessel-tracheal view. The second approach is a fetal echocardiogram that requires additional cardiac images as well as evaluating ventricular function using diagnostic tools such as M-mode and pulsed Doppler ultrasound. Speckle tracking analysis of the ventricular and atrial endocardium of the fetal heart has focused primarily on computing longitudinal global strain. However, the technology enabling this measurement to occur has recently been adapted to enable the clinician to obtain numerous additional measurements of the size, shape, and contractility of the ventricles and atrial chambers. By using the increased number of measurements derived from speckle tracking analysis, we have reported the ability to screen for tetralogy of Fallot, D-transposition of the great arteries (D-TGA), and coarctation of the aorta by only imaging the 4CV. In addition, we have found that measurements derived from speckle tracking analysis of the ventricular and atrial chambers can be used to compute the risk for emergent neonatal balloon atrial septostomy in fetuses with D-TGA. The purpose of this review is to consolidate our experience in one source to provide perspective on the benefits of speckle tracking analysis to measure the size, shape, and contractility of the ventricles and atria imaged in the 4CV in fetuses with congenital heart defects.

[Application of Fetal Magnetic Resonance Imaging in Prognosis Assessment of Fetuses With Congenital Pulmonary Cystic Diseases]. / äº§å‰ç£å ±æŒ¯åœ¨å ˆå¤©æ€§è‚ºå›Šæ€§ç–¾ç— èƒŽå„¿é¢„åŽè¯„ä¼°ä¸­çš„åº”ç”¨ç ”ç©¶.

Objective: The aim of this study is to explore the practical value of prenatal magnetic resonance imaging (MRI) in the assessment of congenital cystic lung disease in fetuses, to evaluate the relative size of the lesion and the status of lung development, and to make an attempt at utilizing the strength of MRI in post-processing to obtain assessment indicators of the size of the lesion and the status of lung development, with which predictions can be made for the prognosis that these fetuses may face after birth. We retrospectively collected and analyzed the data of fetuses diagnosed with congenital cystic lung disease. Prenatal ultrasound examination of these fetuses led to the diagnosis that they were suspected of having congenital cystic lung disease and the diagnosis was confirmed by subsequent prenatal MRI. The fetuses were followed up to track their condition at birth (postnatal respiratory distress, mechanical ventilation, etc.), whether the fetuses underwent surgical treatment, and the recovery of the fetuses after surgical treatment. The recovery of the fetuses was followed up to explore the feasibility of prenatal MRI examination to assess fetal congenital pulmonary cystic disease, and to preliminarily explore the predictive value of prenatal MRI for the prognosis of fetuses with congenital pulmonary cystic disease. Methods: MRI fetal images were collected from pregnant women who attended the West China Second University Hospital of Sichuan University between May 2018 and March 2023 and who were diagnosed with fetal congenital pulmonary cystic disease by prenatal ultrasound and subsequent MRI. Fetal MRI images of congenital cystic lung disease were post-processed to obtain the fetal lung lesion volume, the fetal affected lung volume, the healthy lung volume, and the fetal head circumference measurements. The signal intensity of both lungs and livers, the lesion volume/the affected lung volume, the lesion volume/total lung volume, the cystic volume ratio (CVR), and the bilateral lung-liver signal intensity ratio were measured. The feasibility and value of MRI post-processing acquisition indexes for evaluating the prognosis of fetuses with congenital cystic lung disease were further analyzed by combining the follow-up results obtained 6 months after the birth of the fetus. Logistic regression models were used to quantify the differences in maternal age, gestational week at the time of MRI, CVR, and bilateral lung-to-liver signal intensity ratio, and to assess whether these metrics correlate with poor prognosis. Receiver operating characteristic (ROC) curves were used to assess the value of the parameters obtained by MRI calculations alone and in combination with multiple metrics for predicting poor prognosis after birth. Results: We collected a total of 67 cases of fetuses diagnosed with congenital cystic lung disease by fetal MRI between May 2018 and March 2023, and excluded 6 cases with no normal lung tissue in the affected lungs, 11 cases of fetal induction, and 3 cases of loss of pregnancy. In the end, 47 cases of fetuses with congenital cystic lung disease were included, of which 30 cases had a good prognosis and 17 cases had a poor prognosis. The difference in the difference between the signal intensity ratios of the affected and healthy sides of the lungs and livers of the fetuses in the good prognosis group and that in the poor prognosis group was statistically significant (P<0.05), and the signal intensity ratio of the healthy side of the lungs and livers was higher than the signal intensity ratio of the affected side of the lungs and livers. Further analysis showed that CVR (odds ratio [OR]=1.058, 95% confidence interval [CI]: 1.014-1.104), and the difference between the lung-to-liver signal intensity ratios of the affected and healthy sides (OR=0.814, 95% CI: 0.700-0.947) were correlated with poor prognosis of birth in fetuses with congenital cystic lung disease. In addition, ROC curve analysis showed that the combined application of lesion volume/affected lung volume and the observed difference in the signal intensity ratio between the affected and healthy lungs and liver predicted the prognosis of children with congenital cystic lung disease more accurately than the single-parameter judgment did, with the area under the curve being 0.988, and the cut-off value being 0.33, which corresponded to a sensitivity of 100%, a specificity of 93.3%, and a 95% CI of 0.966-1.000. Conclusions: Based on the MRI of fetuses with congenital cystic lung disease, we obtained information on lesion volume, lesion volume/affected lung volume, lesion volume/total lung volume, CVR, and bilateral lung-to-liver signal intensity ratio difference, all of which showing some clinical value in predicting the poor prognosis in fetuses with congenital cystic lung disease. Furthermore, among the combined indexes, the lesion volume/affected lung volume and bilateral lung-to-liver signal intensity ratio difference are more effective predictors for the poor prognosis of fetuses with congenital cystic lung disease, and show better efficacy in predicting the poor prognosis of fetuses with congenital cystic lung disease. This provides a new and effective predictive method for further assessment of pulmonary lung development in fetuses with congenital cystic lung disease, and helps improve the assessment and prediction of the prognosis of fetuses with congenital cystic lung disease.

[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome]. / Cantrell综合征15ä¾‹äº§å‰è¶ å£°è¡¨çŽ°åˆ†æž.

Objective: Cantrell syndrome, a rare congenital disorder, is characterized by a unique collection of defects on the midline abdominal wall, the lower sternum, the anterior diaphragm, and the diaphragmatic pericardium in addition to some form of intracardiac defect. So far, most of the reports on fetuses with Cantrell syndrome worldwide are either case reports or literature reviews, and few comprehensive studies on fetuses with Cantrell syndrome have been reported, especially in domestic literature. This study aims to provide a detailed analysis of 15 cases of Cantrell syndrome fetuses, focusing on their prenatal ultrasound manifestations and postnatal examination outcomes. Methods: A retrospective analysis was conducted with 15 cases of fetuses diagnosed with Cantrell syndrome via prenatal ultrasound examinations between March 2018 and July 2023. Ultrasound examinations were performed in accordance with the Guidelines for Obstetric Ultrasound in China, including first-trimester fetal ultrasound scan and routine second-trimester fetal ultrasound scan. Gestational age was evaluated and nuchal translucency (NT) was measured during first-trimester fetal ultrasound scan at 11 to 13+6 weeks. The diagnostic criterion for NT thickening was NT≥3.0 mm and the screening of severe fetal structural malformations was performed, including the screening of the head, the neck, the thorax, the abdominal content, the abdominal wall, the limbs and other structures. During routine second-trimester fetal ultrasound scan, the fetal biometry was assessed and an anatomy survey was performed. Post-induction and postnatal outcomes of fetuses diagnosed with Cantrell syndrome by prenatal ultrasound were followed up by postnatal observation, inquiries with the electronic medical record system, or telephone follow-up. The prenatal ultrasound imaging manifestations and features of the fetuses with Cantrell syndrome, as well as their post-induction or postnatal examination results were comprehensively summarized and analyzed. Results: The study involved pregnant women of the average age of 30.1±3.5 years, with ultrasound diagnoses made between 11 to 26 weeks of gestation (mean: 13.4±4.0 weeks). Among the 15 cases, there were 10 singleton pregnancies and 5 cases of one twin in a pair of twins. These twins comprised 3 monochorionic diamniotic twins and 2 dichorionic diamniotic twins, with Cantrell syndrome present in one of the twins in all 5 cases. Thirteen cases were diagnosed by fetal ultrasound scan conducted in the first trimester, with 10 being singleton pregnancies and 3 being twin pregnancies (1 monochorionic diamniotic twins and 2 dichorionic diamniotic twins). One case was missed in the first-trimester ultrasound scan, resulting in a missed diagnosis rate of 7.1%. Two cases were diagnosed in second-trimester fetal ultrasound scan, both involving monochorionic diamniotic twins. One case was a referral from another hospital at 19 weeks, while the other was initially not diagnosed for Cantrell syndrome and was diagnosed at 26 weeks. Prenatal ultrasound examinations revealed a consistent pattern of abnormalities across all 15 fetuses, including manifestations of ectopic cordis combined with abdominal protrusion mass. Specifically, 4 cases were diagnosed with omphalocele, 4 with gastroschisis, and the remaining 7 had uncertain coverage of the membrane on the surface of the abdominal protrusion mass. Six fetuses had complete ectopic cordis, while nine had partial ectopic cordis. Fetal echocardiography was performed in 5 cases, revealing intracardiac malformations in 4 cases (80%). Notably, 2 cases were diagnosed in the second trimester, including one with right ventricular hypoplasia accompanied by interventricular septal defect and another with double outlet right ventricle accompanied by interventricular septal defect. Additionally, 2 cases were diagnosed in the first trimester, one with single atrium and single ventricle, and the other with complete transposition of the great arteries. Of the 15 cases of fetuses with Cantrell syndrome, 13 (86.7%) exhibited concomitant malformations in other systems. These included 7 cases of spinal malformations, 4 limb abnormalities, 3 umbilical cord abnormalities, 2 central nervous system malformations, 1 facial malformation, and 2 fetal hydrops. Spinal malformations were the most prevalent concomitant malformation, accounting for 46.7% of all cases. Among the 14 fetuses undergoing NT examination, 7 (50%) had increased NT, and 5 of them had cystic hygroma. All 10 singleton pregnancies underwent induced abortion, and the appearance of the induced fetuses was consistent with the prenatal ultrasound manifestations. In the twin pregnancies, 2 cases experienced intrauterine fetal death, while 2 underwent selective reduction. Notably, 3 of these cases exhibited postnatal appearances consistent with prenatal ultrasound manifestation, while 1 case showed an indistinct appearance after selective reduction during delivery. One case was lost to follow-up. Genetic testing was conducted for 4 induced fetuses, none of which yielded any relevant pathogenic or potentially pathogenic variants. Conclusion: In conclusion, Cantrell syndrome manifests prenatally with ectopic cordis combined with abdominal protrusion mass, often accompanied by intracardiac malformations and other concomitant malformations. While most cases can be diagnosed in the first trimester, there remains the possibility of missed diagnoses, which underscores the importance of close follow-up in the second trimester.

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.

BACKGROUND: Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under- and over-, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period. METHODS: Among the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating-Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics. RESULTS/CONCLUSION: To date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.

Cephalopagus twins diagnosed at 7 weeks gestational age following IVF/ICSI.

A patient in her 30s who was a G0 proceeded with in vitro fertilisation (IVF) for a history of male factor infertility. Following single embryo transfer, the patient was diagnosed with a conjoined twin pregnancy. During her IVF cycle, the patient was stimulated with an antagonist protocol for 13 days followed by a gonadotropin-releasing hormone agonist trigger. 13 eggs were retrieved, 9 were mature and 5 fertilised with intracytoplasmic sperm injection. Of those, two were cryopreserved. She had a successful frozen blastocyst embryo transfer. The patient's 7-week ultrasound demonstrated a single gestational sac, yolk sac and fetal pole. However, the crown-rump length appeared visually abnormal and two heartbeats were visualised. She was referred to maternal-fetal medicine (MFM) for a first-trimester ultrasound. Her ultrasound with MFM was notable for a fluid-filled chest, foreshortened limbs and early sacral agenesis. She was subsequently diagnosed with cephalopagus twins and underwent an induced abortion following consultation with MFM.

Challenging Diagnosis of Late Abdominal Pregnancy: A Case Study of Misdiagnosis and Fetal Death in the Third Trimester.

BACKGROUND Abdominal pregnancy is a rare form of extrauterine pregnancy that usually results in a poor outcome; it is associated with serious fetal and maternal morbidity. The diagnosis of advanced abdominal pregnancy is sometimes challenging and should be identified early, at a routine antenatal examination. There are still no evidence-based management strategies for late abdominal pregnancy. This report presents a case of a patient with an abdominal pregnancy and a non-viable fetus. CASE REPORT A 34-year-old woman presented as an emergency 2 months after the diagnosis of intrauterine fetal death at 33 weeks of gestation. During subsequent surgery, the pregnancy was found to be an undiagnosed abdominal pregnancy. The patient had been admitted due to abdominal pain and increasingly deteriorating general condition. On admission, clinical examination and abdominal ultrasound were carried out and the diagnosis of fetal death was confirmed. The diagnosis of extrauterine pregnancy, however, was initially missed, and a decision to induce labor was made. After unsuccessful induction of labor and deterioration of the patient's general condition, a laparotomy was performed, and the diagnosis of abdominal pregnancy was confirmed. A severely macerated fetus and placenta were delivered. Relative to others with this condition, the patient had a very good postoperative outcome with prolonged healing of the surgical incision. Informed consent for publication was obtained from the patient. CONCLUSIONS The diagnosis of late abdominal pregnancy can be missed despite clinical and sonographic examination. This diagnosis should be considered and excluded in similar suspected clinical findings. Proper operative planning in a tertiary center with a well-experienced team is crucial.

Ultrasound prediction of fetal macrosomia in pregnancies complicated by diabetes mellitus: a systematic review and meta-analysis.

OBJECTIVES: To report the diagnostic accuracy of ultrasound in identifying fetuses with macrosomia in pregnancies complicated by gestational or pregestational diabetes. METHODS: Medline, Embase and Cochrane databases were searched. Inclusion criteria were singleton pregnancies complicated by diabetes undergoing third-trimester ultrasound evaluation. The index test was represented by ultrasound estimation of fetal macrosomia (estimated fetal weight EFW or abdominal circumference AC >90th or 95th percentile). Subgroup analyses were also performed. Sensitivity, specificity, positive and negative likelihood ratios, and diagnostic odds ratio were computed using the hierarchical summary receiver-operating characteristics model. RESULTS: Twenty studies were included in the systematic review including 8,530 pregnancies complicated by diabetes. Ultrasound showed an overall moderate accuracy in identifying fetuses with macrosomia with a sensitivity of 71.2 % (95 % CI 63.1-78.2), a specificity of 88.6 % (95 % CI 83.9-92.0). The interval between ultrasound and birth of two weeks showed the highest sensitivity and specificity (71.6 %, 95 % CI 47.9-87.3 and 91.7, 95 % CI 86.2-95.5). EFW sensitivity and specificity were 76.6 % (95 % CI 70.1-82.3) and 82.9 % (95 % CI 80.9-84.8), while AC 84.8 % (95 % CI 78.2-90.0) and 73.7 % (95 % CI 71.0-76.4). CONCLUSIONS: Ultrasound demonstrates an overall good diagnostic accuracy in detecting fetal macrosomia in pregnancies with diabetes.