Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 5.034
Filtrar
1.
Semin Pediatr Surg ; 33(4): 151436, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-39018717

RESUMO

Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect with significant morbidity and mortality. The prenatal management of a pregnancy with a fetus affected with CDH is complex and requires a multi-disciplinary team approach. An improved understanding of prenatal diagnosis and management is essential to developing strategies to optimize outcomes for these patients. In this review, we explore the current knowledge on diagnosis, severity stratification, prognostic prediction, and indications for fetal intervention in the fetus with CDH.

2.
Sci Rep ; 14(1): 16266, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39009665

RESUMO

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.


Assuntos
Dextrocardia , Sequenciamento do Exoma , Diagnóstico Pré-Natal , Humanos , Dextrocardia/genética , Dextrocardia/diagnóstico , Dextrocardia/diagnóstico por imagem , Feminino , Gravidez , Diagnóstico Pré-Natal/métodos , Adulto , Centros de Atenção Terciária , Feto/anormalidades , Testes Genéticos/métodos , Ultrassonografia Pré-Natal , Cariotipagem
3.
Front Pediatr ; 12: 1379267, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39015208

RESUMO

Introduction: Diagnosis of prenatal megacystis has a significant impact on the pregnancy, as it can have severe adverse effects on fetal and neonatal survival and renal and pulmonary function. The study aims to investigate the natural history of fetal megacystis, to try to differentiate in utero congenital lower urinary tract obstruction (LUTO) from non-obstructive megacystis, and, possibly, to predict postnatal outcome. Materials and methods: A retrospective single-center observational study was conducted from July 2015 to November 2023. The inclusion criteria were a longitudinal bladder diameter (LBD) >7 mm in the first trimester or an overdistended/thickened-walled bladder failing to empty in the second and third trimesters. Close ultrasound follow-up, multidisciplinary prenatal counseling, and invasive and non-invasive genetic tests were offered. Informed consent for fetal autopsy was obtained in cases of termination of pregnancy or intrauterine fetal demise (IUFD). Following birth, neonates were followed up at the same center. Patients were stratified based on diagnosis: LUTO (G1), urogenital anomalies other than LUTO ("non-LUTO") (G2), and normal urinary tract (G3). Results: This study included 27 fetuses, of whom 26 were males. Megacystis was diagnosed during the second and third trimesters in 92% of the fetuses. Of the 27 fetuses, 3 (11.1%) underwent an abortion, and 1 had IUFD. Twenty-three newborns were live births (85%) at a mean gestational age (GA) of 34 ± 2 weeks. Two patients (neonates) died postnatally due to severe associated malformations. Several prenatal parameters were evaluated to differentiate patients with LUTO from those with non-LUTO, including the severity of upper tract dilatation, keyhole sign, oligohydramnios, LBD, and GA at diagnosis. However, none proved predictive of the postnatal diagnosis. Similarly, none of the prenatal parameters evaluated were predictive of postnatal renal function. Discussion: The diagnosis of megacystis in the second and third trimesters was associated with live births in up to 85% of cases, with LUTO identified as the main cause of fetal megacystis. This potentially more favorable outcome, compared to the majority reported in literature, should be taken into account in prenatal counseling. Megacystis is an often misinterpreted antennal sign that may hide a wide range of diagnoses with different prognoses, beyond an increased risk of adverse renal and respiratory outcomes.

4.
Clin Case Rep ; 12(7): e8730, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39015212

RESUMO

Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant SLC7A9-related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal sonographic sign.

5.
Front Genet ; 15: 1401315, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38957807

RESUMO

Purpose: To analyze the prenatal diagnosis, parental verification, and pregnancy outcomes of three fetuses with 17ql2 microdeletion syndrome. Methods: We retrospectively reviewed 46 singleton pregnancies with anomalies in the urinary system who underwent amniocentesis from Feb 2022 to October 2023 in the Prenatal Diagnosis Center of Lianyungang Maternal and Child Health Hospital. These fetuses were subjected to chromosomal microarray analysis (CMA) and/or trio whole-exome sequencing (Trio-WES). We specifically evaluated these cases' prenatal renal ultrasound findings and clinical characteristics of the affected parents. Results: Three fetuses were diagnosed as 17q12 microdeletions, and the detection rate was 6.5% in fetuses with anomalies in the urinary system (3/46). The heterogeneous deletions range from 1.494 to 1.66 Mb encompassing the complete hepatocyte nuclear factor 1 homeobox B (HNF1B) gene. Fetuses with 17q12 deletion exhibited varied renal phenotypes. Moreover, the clinical phenotypes of the affected parents differed greatly in the two cases (case 2 and case 3) in which the deletion was inherited. For case 3, the mother manifested classic symptoms of 17q12 deletion syndrome as well as unreported characteristics, such as very high myopia. Conclusion: Our findings demonstrate the necessity and significance of offering prenatal genetic testing when various renal anomalies are detected. In addition, our study broadens the phenotypic spectrum of 17q12 deletions. Most importantly, our findings may allow timely supportive genetic counseling and guidance for pregnancy in affected families, e.g., with the help of preimplantation genetic testing (PGT).

6.
J Genet Couns ; 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38989812

RESUMO

Previous research has examined parents' reflections on their child's Down syndrome diagnosis based on whether the diagnosis was provided prenatally or after birth, revealing few significant differences; by comparison, few studies have examined parents' reflections on the birth of the child in relation to the timing of the diagnosis. This study was conducted to examine whether mothers differentially reported on and rated the diagnosis, birth, and most recent birthday of their child with DS based on when the diagnosis was provided. Forty-four American mothers of children with DS discussed the birth of their child, when they learned of their child's DS diagnosis, and their child's most recent birthday with a researcher. Participants also completed online questionnaires on which they rated the events and indicated how they felt about the events at the time of their occurrence and at the time of the study. The results revealed that participants who received a prenatal diagnosis of DS for their child reflected differently-and seemingly more positively-on their child's birth relative to participants who received a postnatal diagnosis. These differences were evident when considering participant ratings, emotion language used when discussing the events, and feeling states characterizing how participants felt about the events at the time of their occurrence and at the time of the study. Given these group differences, medical professionals should carefully consider the conditions under which they provide mothers with diagnostic information and support services after a child is born.

7.
Best Pract Res Clin Obstet Gynaecol ; : 102521, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38997900

RESUMO

Antenatal screening with ultrasound identifies fetal structural anomalies in 3-6% of pregnancies. Identification of anomalies during pregnancy provides an opportunity for counselling, targeted imaging, genetic testing, fetal intervention and delivery planning. Ultrasound is the primary modality for imaging the fetus in pregnancy, but magnetic resonance imaging (MRI) is evolving as an adjunctive tool providing additional structural and functional information. Screening should start from the first trimester when more than 50% of severe defects can be detected. The mid-trimester ultrasound balances the benefits of increased fetal growth and development to improve detection rates, whilst still providing timely management options. A routine third trimester ultrasound may detect acquired anomalies or those missed earlier in pregnancy but may not be available in all settings. Targeted imaging by fetal medicine experts improves detection in high-risk pregnancies or when an anomaly has been detected, allowing accurate phenotyping, access to advanced genetic testing and expert counselling.

8.
Sci Rep ; 14(1): 15920, 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38987582

RESUMO

With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the number of women with high-risk pregnancies is gradually increasing. In this study, 4211 fetuses who underwent chromosomal microarray analysis (CMA) with high-risk prenatal indications were analysed. The results showed that the overall prenatal detection rate of CMA was 11.4% (480/4211), with detection rates of 5.82% (245/4211) for abnormal chromosome numbers and 5.58% (235/4211) for copy number variants. Additionally, the detection rates of clinically significant copy number variants were 3.78% (159/4211) and 1.8% (76/4211) for variants of uncertain significance. The detection rates of fetal chromosomal abnormalities were 6.42% (30/467) for pregnant women with advanced maternal age (AMA), 6.01% (50/832) for high-risk maternal serum screening (MSS) results, 39.09% (224/573) with abnormal non-invasive prenatal testing (NIPT) results, 9.21% (127/1379) with abnormal ultrasound results, and 5.1% (49/960) for other indications. Follow-up results were available for 4211 patients, including 3677 (3677/4211, 87.32%) whose infants were normal after birth, 462 (462/4211, 10.97%) who terminated their pregnancy, 51 (51/4211, 1.21%) whose infants were abnormal after birth, and 21 (21/4211, 0.50%) who refused follow-up. The results of this study demonstrate significant variation in the diagnostic rate of chromosomal microarray analysis across different indications, providing valuable guidance for clinicians to assess the applicability of CMA technology in prenatal diagnosis.


Assuntos
Aberrações Cromossômicas , Análise em Microsséries , Resultado da Gravidez , Diagnóstico Pré-Natal , Humanos , Gravidez , Feminino , Adulto , Diagnóstico Pré-Natal/métodos , Análise em Microsséries/métodos , Variações do Número de Cópias de DNA , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , China/epidemiologia , Feto , Gravidez de Alto Risco , Idade Materna
9.
Front Physiol ; 15: 1330702, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38994451

RESUMO

Fetal membrane providing mechanical support and immune protection for the growing fetus until it ruptures during parturition. The abnormalities of fetal membrane (thickening, separation, etc.) are related to adverse perinatal outcomes such as premature delivery, fetal deformities and fetal death. As a noninvasive method, imaging methods play an important role in prenatal examination. In this paper, we comprehensively reviewed the manuscripts on fetal membrane imaging method and their potential role in predicting adverse perinatal fetal prognosis. We also discussed the prospect of artificial intelligence in fetal membrane imaging in the future.

10.
Eur J Obstet Gynecol Reprod Biol ; 300: 150-154, 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-39003886

RESUMO

OBJECTIVE: To assess the characteristics, additional structural anomalies and postnatal urinary outcome of the cases diagnosed with fetal ectopic kidneys in the prenatal period. STUDY DESIGN: Cases having fetal ectopic kidneys, detected from a total of 14,617 pregnant women examined by routine detailed (Group 1) or indicated (Group 2) obstetric ultrasonography (USG) in a tertiary perinatology unit were analyzed. The prevalence of the cases, time of the diagnosis, sidedness of the affected kidney, anatomical location, origins of blood supply, additional urinary or extraurinary anomalies, and urinary complications during the postnatal follow-up period were investigated. RESULTS: We have detected 33 fetuses with ectopic kidneys in our cohort. The prevalence of fetal ectopic kidney was 0.22 %, with a median (min.-max.) diagnosis time of 21.3 (17.6-34) weeks. In the group in whom indicated USG was performed, the time of diagnosis was later compared to routine detailed USG (p = 0.04) group. There was no difference in terms of gender [male, (n = 14), female (n = 19), p = 0.38] and the sidedness of the ectopic kidneys (p = 0.38). The location of ectopic kidneys was most frequent in the iliac fossa (n = 20, 60.6 %) and in the lateral pelvic areas (n = 13, 39.3 %). The blood supply origin of ectopic kidneys was the common iliac artery in 22 (66.6 %), whereas the aorta in 11 cases (33.3 %). There was an additional urinary anomaly in 8 cases (24 %), an extraurinary structural anomaly, most commonly cardiac, and/or a soft marker for aneuploidy were presented in 16 cases (48 %). The most common urinary complication in the postpartum period was vesicoureteral reflux (n = 5). CONCLUSION: Ectopic kidney in the prenatal period is a rare structural anomaly that can equally affect both genders and both kidneys. Prenatal diagnosis is important for the diagnosis of additional anomalies and follow-up of postnatal complications.

11.
Taiwan J Obstet Gynecol ; 63(4): 549-551, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39004485

RESUMO

OBJECTIVE: We present low-level mosaic trisomy at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome. CASE REPORT: A 40-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY in cultured amniocytes. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (7) × 2-3, (X,Y) × 1, consistent with 24% mosaicism for trisomy 7. Polymorphic DNA marker analysis on the DNA extracted from the uncultured amniocytes and parental bloods excluded uniparental disomy (UPD) 7. Prenatal ultrasound findings were normal. She was referred for genetic counseling at 19 weeks of gestation. No repeat amniocentesis was suggested, and continuing the pregnancy was advised. At 22 weeks of gestation, the result of soluble fms-like tyrosine kinase-1 (sFlt-1)/placental growth factor (PlGF) = 6.1 (normal < 38). She did not have preeclampsia. At 39 weeks of gestation, a 3346-g male baby was delivered without any phenotypic abnormality. aCGH analysis on the DNA extracted from cord blood and placenta revealed the result of arr (1-22) × 2, (X,Y) × 1 with no genomic imbalance in all tissues. When follow-up at age three months, the baby was normal in development and phenotype. The peripheral blood had a karyotype of 46,XY, and interphase fluorescence in situ hybridization (FISH) analysis using the bacterial artificial chromosome (BAC) probes of chromosome 7 showed disomy 7 cells in all 102/102 cells. CONCLUSION: Low-level mosaic trisomy 7 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome.


Assuntos
Amniocentese , Cromossomos Humanos Par 7 , Hibridização Genômica Comparativa , Mosaicismo , Trissomia , Dissomia Uniparental , Humanos , Gravidez , Feminino , Mosaicismo/embriologia , Trissomia/diagnóstico , Trissomia/genética , Adulto , Cromossomos Humanos Par 7/genética , Dissomia Uniparental/diagnóstico , Dissomia Uniparental/genética , Recém-Nascido , Linhagem Celular , Células Cultivadas , Resultado da Gravidez/genética
12.
Taiwan J Obstet Gynecol ; 63(4): 561-564, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39004488

RESUMO

OBJECTIVE: We present prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations. CASE REPORT: A 35-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and the carrier of distal 3p deletion. She was phenotypically normal, and there was no family history of congenital anomalies. Amniocentesis revealed a karyotype of 46,XY,del(3)(p26.1). Repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 46,XY,del(3)(p25.3). Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed the result of arr 3p26.3p25.3 (117,735-8,709,972) × 1.0 [GRCh37 (hg19)] with an 8.59-Mb deletion of 3p26.3p25.3 encompassing 14 OMIM genes of CHL1, CNTN6, CNTN4, IL5RA, TRNT1, CRBN, SETMAR, SUMF1, ITPR1, BHLHE40, ARL8B, GRM7, LMCD1 and SSUH2. Cytogenetic analysis of parental bloods revealed a karyotype of 46,XX,del (3) (p25.3) in the mother and 46,XY in the father. The woman's 69-year-old mother and her 2-year-old elder son carried the same aberrant chromosome of 3p25.3→p26.3 deletion by conventional cytogenetic analysis but manifested no phenotypic abnormality. aCGH analysis of the peripheral bloods showed that the woman's mother and her elder son had the same 8.59-Mb deletion of 3p26.3p25.3. The woman was advised to continue the pregnancy. At 39 weeks of gestation, a 3040-g healthy male baby was delivered. When follow-up at age 2½ years, the neonate was normal in development and showed no apparent phenotypic abnormality. CONCLUSION: Distal 3p deletion of 3p26.3p25.3 involving the OMIM genes from CHL1 to SSUH2 can be associated with no apparent phenotypic abnormality.


Assuntos
Amniocentese , Deleção Cromossômica , Cromossomos Humanos Par 3 , Hibridização Genômica Comparativa , Linhagem , Humanos , Feminino , Gravidez , Cromossomos Humanos Par 3/genética , Adulto , Masculino , Heterozigoto , Recém-Nascido
13.
J Genet Couns ; 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39010818

RESUMO

Understanding the prenatal screening and diagnostic tests performed during pregnancy and making a decision in line with the test results can be a complex process for pregnant individuals and their families. Therefore, this study examined pregnant individuals' genetic literacy and decisional conflict regarding prenatal screening tests. The study was conducted with 328 pregnant individuals who applied to a training and research hospital to receive antenatal care between April 05 and September 30, 2021. Research data were collected by using the "Decisional Conflict Scale," "SURE Scale," and "Genetic Literacy and Comprehension Measure." The mean age of the participants was 28.69 ± 5.48, and the mean gestational week was 25.90 ± 10.43. A statistically significant difference was found between the educational levels of the pregnant individuals and the genetic literacy and comprehension scales (p < 0.001). A statistically significant difference was found between getting information about prenatal screening tests, having a screening test and decisional conflict scale, SURE Scale, and genetic literacy and comprehension scales (p < 0.001). A weak, negative, statistically significant correlation was found between the genetic literacy and comprehension familiarity and decision conflict scales (r = -0.177, p = 0.001). It is well known that pregnant individuals have difficulty understanding and interpreting test results due to prenatal screening tests that include genetic information. In our study, approximately half of the pregnant individuals received information about prenatal screening tests. Therefore, prenatal care must include the necessary information about prenatal screening tests. The study found that as the genetic literacy of pregnant individuals increased, the conflict of decisions they experienced decreased. Accordingly, it is suggested that interventions to increase genetic literacy among pregnant individuals may be effective in reducing decisional conflict regarding prenatal screening tests.

14.
Clin Genet ; 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39012202

RESUMO

15q24.1 microdeletion syndrome is a recently described condition often resulting from non-allelic homologous recombination (NAHR). Typical clinical features include pre and post-natal growth retardation, facial dysmorphism, developmental delay and intellectual disability. Nonspecific urogenital, skeletal, and digit abnormalities may be present, although other congenital malformations are less frequent. Consequently, only one case was reported prenatally, complicating the genotype-phenotype correlation and the genetic counseling. We identified prenatally a second case, presenting with cerebral abnormalities including hydrocephaly, macrocephaly, cerebellum hypoplasia, vermis hypoplasia, rhombencephalosynapsis, right kidney agenesis with left kidney duplication and micropenis. Genome-wide aCGH assay allowed a diagnosis at 26 weeks of amenorrhea revealing a 1.6 Mb interstitial deletion on the long arm of chromosome 15 at 15q24.1-q24.2 (arr[GRCh37] 15q24.1q24.2(74,399,112_76,019,966)x1). A deep review of the literature was undertaken to further delineate the prenatal clinical features and the candidate genes involved in the phenotype. Cerebral malformations are typically nonspecific, but microcephaly appears to be the most frequent in postnatal cases. Our case is the first reported with a frank cerebellar involvement.

15.
Cureus ; 16(6): e62398, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39006585

RESUMO

Introduction Chagas disease is caused by the protozoan Trypanosoma cruzi. It is endemic in 21 countries in Central and South America. Spain is the only nonendemic country with the highest number of Chagas disease cases outside the Americas. The only transmission mechanism in Spain is vertical transmission. Materials and methods We reviewed the records of pregnant women from endemic countries who underwent prenatal care at the Hospital Universitario de Guadalajara, from January 1, 2009, to December 31, 2022, to determine the rate of Chagas disease screening and vertical transmission. Results Out of a total of 1,681 pregnant women from endemic countries, prenatal screening was conducted on 316 (18.7%) of them. According to our study, the prevalence of the disease in the population of pregnant women from endemic countries is 0.95% with a 95% confidence interval (ranging from 0.32% to 2.75%), with three out of the 316 screened women testing positive for the disease. All positive cases were among Bolivian women. Vertical transmission was not observed in any of the cases. However, because of the small sample size, this study cannot conclusively determine the vertical transmission rate in the province of Guadalajara. Conclusions Implementing regulated prenatal screening protocols for Chagas disease at regional or national levels is necessary to increase the rate of prenatal screening. Additionally, increasing awareness of this condition among healthcare professionals and at-risk populations could further improve prenatal screening rates and treatment adherence.

16.
Eur Radiol ; 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39014090

RESUMO

OBJECTIVES: Reveal developmental alterations in choroid plexus volume (CPV) among fetuses with isolated ventriculomegaly (VM) through neuro-ultrasound. METHODS: This prospective study aimed to assess the development of fetal CPV in normal fetuses and those with isolated VM through neuro-ultrasound. The fetuses of isolated VM were categorized into mild, moderate, and severe groups, and subsequently, the lateral ventricle evolution was monitored. The developmental alterations in CPV among fetuses with isolated VM were determined by comparing the CPV z-scores with those of normal fetuses. Receiver operating characteristics curve analysis was used to assess the predictive value of altered CPV in lateral ventricle evolution. RESULTS: A total of 218 normal fetuses and 114 isolated VM fetuses from 22 weeks to 35 weeks of gestation were included. The CPV decreased as the isolated VM was getting worse. Both fetuses with isolated moderate ventriculomegaly and those with isolated severe ventriculomegaly exhibited reduced CPV compared to normal fetuses. The CPV in fetuses with isolated mild ventriculomegaly (IMVM) varied, with some showing a larger CPV compared to normal fetuses, while others exhibited a smaller CPV. The larger CPV in cases of IMVM may serve as a predictive factor for either regression or stability of the lateral ventricle, while reduced CPV in cases of isolated VM may indicate worsening of the lateral ventricle. CONCLUSION: The growth volume of fetal CP exhibited alterations in fetuses with isolated VM, and these changes were found to be correlated with the evolution of the lateral ventricle. CLINICAL RELEVANCE STATEMENT: Neuro-ultrasound revealed varying degrees of alterations in the volume development of the choroid plexus within the fetus with isolated VM. The findings can help predict lateral ventricle prognosis, greatly contributing to prenatal diagnosis strategies for fetuses with isolated VM. KEY POINTS: The volume of choroid plexus growth is altered in fetuses with isolated VM. The altered CPV in isolated VM was associated with lateral ventricle evolution. The findings are useful for prenatal counseling and managing fetuses with isolated VM.

18.
J Cardiovasc Magn Reson ; : 101053, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38960285

RESUMO

BACKGROUND: In double aortic arch (DAA) one of the arches can demonstrate atretic portions postnatally, leading to diagnostic uncertainty due to overlap with isolated right aortic arch (RAA) variants. The main objective of this study is to demonstrate the morphological evolution of different DAA phenotypes from prenatal to postnatal life using 3D fetal cardiac magnetic resonance imaging (CMR) and postnatal CT/CMR imaging. METHODS: 3D fetal CMR was undertaken in fetuses with suspected DAA over a six-year period (Jan 2016 - Jan 2022). All cases with surgical confirmation of DAA were retrospectively studied and morphology on fetal CMR was compared to postnatal CT/CMR and surgical findings. RESULTS: 32 fetuses with surgically confirmed DAA underwent fetal CMR. All demonstrated a complete DAA with left-sided arterial duct. The RAA was dominant in 30/32 (94%). Postnatal CT/CMR was undertaken at median age of 3.3months (IQR 2.0-3.9) demonstrating DAA with patency of both arches in 9/32 (28%), with 6 showing signs of coarctation of the left aortic arch (LAA). The LAA isthmus was not present on CT/CMR in 22/32(69%), the transverse arch between left carotid and left subclavian artery was not present in 1 case. CONCLUSIONS: Fetal CMR provides novel insights into perinatal evolution of DAA. The smaller LAA can develop coarctation or atresia related to postnatal constriction of the arterial duct, making diagnosis of DAA challenging with contrast-enhanced CT/CMR. This highlights the potentially important role for prenatal 3D vascular imaging and might improve intepretation of postnatal imaging.

19.
Artigo em Inglês | MEDLINE | ID: mdl-38953213

RESUMO

A 35-year-old woman (gravida 1, para 0) was admitted to our hospital at 28 weeks' gestation with vaginal bleeding from placenta previa. Severe fetal bradycardia was observed during fetal heart rate monitoring. Ultrasonography showed widely dilated veins on the fetal surface of the placenta and an extraordinarily low umbilical artery peak systolic velocity in the Doppler study. Umbilical cord torsion was suspected. On the subsequent day, we performed a cesarean section due to worsening fetal heart rate patterns. Umbilical artery blood gas analysis indicated severe acidemia (pH 7.063), and umbilical cord torsion was confirmed at the placental cord insertion site. Diagnosing UCT prenatally is challenging; however, it can be suspected by scanning for the widely dilated veins on the fetal placental surface, termed as the "Sunset Sign," an abnormally low umbilical artery peak systolic velocity, and other fetal Doppler abnormalities.

20.
Ceska Gynekol ; 89(3): 219-223, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38969517

RESUMO

: 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.


Assuntos
Região Sacrococcígea , Teratoma , Ultrassonografia Pré-Natal , Humanos , Teratoma/diagnóstico por imagem , Teratoma/diagnóstico , Teratoma/cirurgia , Feminino , Região Sacrococcígea/diagnóstico por imagem , Gravidez , Prognóstico
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA