Prenatal Diagnosis最新文献

Joubert syndrome is a rare autosomal recessive ciliopathy defined by the "molar tooth" sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling. Although KIAA0586-related Joubert syndrome is primarily neurodevelopmental, cilia also play a key role in left-right axis formation, however, laterality defects have not been reported in this context. We describe a prenatal case with suspected Joubert syndrome and left isomerism carrying a homozygous likely pathogenic KIAA0586 frameshift variant. The fetus showed dextrocardia, azygos continuation of the inferior vena cava, median gallbladder, persistent right umbilical vein, and a suspected molar tooth sign. This case suggests a possible phenotypic expansion of KIAA0586-related ciliopathy and supports a role for TALPID3 in human left-right patterning.

Evaluation of fetal genitalia is often neglected after determining fetal sex, yet the identification of a scrotal mass may suggest significant underlying conditions requiring specific management. We conducted a systematic literature review, following PRISMA guidelines and registered with PROSPERO (CRD42024559035), on the five most common causes of prenatal scrotal masses: inguinoscrotal hernia (IH), meconium periorchitis (MPO), testicular solid tumors (TST), hydrocele (H), and testicular torsion (TT). A total of 83 cases were included (IH = 31; MPO = 23; TST = 6; H = 10; TT = 13), all diagnosed in the third trimester. IH typically presented as unilateral right-sided masses (63%), while MPO and H were predominantly bilateral (72% and 100%). TST and TT were mainly unilateral with no side preference. IH and MPO showed larger average diameters (> 35 mm). Additional findings were often associated with IH and MPO. MPO had the highest rates of preterm delivery (48%), neonatal medical support (40%), and urgent surgery (60.86%). IH and TST were usually associated with term deliveries and scheduled surgery (92.31% and 100%). TT showed a high incidence of urgent surgery (61.54%). This review outlines key sonographic features of prenatal scrotal masses to guide differential diagnosis and optimize perinatal care strategies.

Objectives: The aim of this study is to compare the accuracy of the currently published techniques for Sylvian fissure (SF) evaluation on the axial plane in normal fetuses and in fetuses with confirmed diffuse malformation of cortical development (MCD).

Methods: We performed a retrospective study in which the SF was assessed from fetuses between 22 and 33 weeks of gestation on a 2D transabdominal axial plane by means of subjective and objective methods derived from a literature search. The accuracy of the different techniques to predict the presence or the absence of MCD was compared.

Results: 100 fetuses were included at a median gestational age of 26 (22-33) weeks. Of these, 93 fetuses were normal. Subjective evaluation showed 100% (95% CI: 65-100) sensitivity and 100% (95% CI: 96-100) specificity for predicting the absence or presence of MCD. Conversely, when applying objective methods in the evaluation of the SF, the sensitivity ranged from 29% (95% CI: 8-64) to 57% (95% CI: 25-84) and the specificity from 23% (95% CI: 15-32) to 98% (95% CI: 92-100).

Conclusions: The comparison of different methods for the expert assessment of the SF in the axial plane has shown that the subjective evaluation of the SF may be more accurate than other proposed methods in predicting the presence or absence of diffuse MCD. Further prospective research is needed to validate these results in daily practice.

We report the first prenatal diagnosis of a de novo WBP11 variant in a fetus with growth restriction and structural brain anomalies. The case highlights the challenges of counselling with a new and evolving gene-disease association.

Objective: To evaluate the diagnostic accuracy of sonographic estimated fetal weight discordance (EFWD) ≥ 20% in predicting birthweight discordance (BWD) ≥ 20% (i.e., selective fetal growth restriction [sFGR]) in monochorionic (MC) twin pregnancies.

Method: Retrospective cohort study including uncomplicated MC twin pairs (n = 213) and MC twins with sFGR (n = 134), with available ultrasound within 14 days of birth approximately 2002 and 2023 in our center. Within 14 and 7 days of birth, we calculated sensitivity and specificity. In a subgroup of twins with available ultrasound within 3 days of birth, the absolute error of BWD was calculated (BWD-EFWD).

Results: The sensitivity and specificity of EFWD ≥ 20% within 14 days of birth in predicting BWD ≥ 20% were 84% (95% CI 76-89) and 85% (95% CI 79-89), respectively. Ultrasounds available within 7 days of birth (n = 192/347) showed comparable diagnostic accuracies (sensitivity 85% [95% CI 75-92], and specificity 81% [95% CI 73-88]). Among twins with available ultrasound within 3 days of birth (n = 90/347), the absolute error of BWD was -2.0% (SD 8.0), indicating a mean overestimation of BWD.

Conclusion: In MC twins with sFGR, the accuracy of sonographic EFWD ≥ 20% in predicting BWD ≥ 20%, is relatively high. BWD is overestimated by an average of two percentage points within 3 days of birth.

Objective: To analyze the legal consent requirements and customary procedures in clinical trials of fetal therapy with continuing neonatal interventions across four European countries using the BOOSTB4 trial as a case study.

Methods: The study of country-specific legal consent requirements and the actual consent procedures in the BOOSTB4 trial, incorporating surveys with the trial's principal investigators.

Results: Prenatal consent was obtained solely from the pregnant women in all participating countries, in line with legal requirements. However, in all countries both prospective parents were engaged in prenatal counseling. In Sweden, the Netherlands and Germany obtaining consent from both parents for continuing neonatal interventions is mandatory. In the United Kingdom, officially only the consent of one parent is required. Nevertheless, researchers there are cautious of including pregnant women or neonates if parents disagree to trial participation, a concern echoed by Dutch, German and Swedish researchers.

Conclusion: While the pregnant woman's autonomy is paramount for prenatal trial participation, trials involving continuing neonatal interventions should adopt a two-step prenatal counseling approach. This approach allows a distinction between consent for fetal and neonatal procedures and allows researchers to comprehend parental perspectives without undermining the pregnant woman's individual rights.

Objective: A core set of generic Patient Reported Outcome Measures (PROMs) was recently developed to collect information from patients about their health status and quality of life. This study aims to: (1) identify relevant Patient Reported Outcome Measures (PROMs) from this core set for parents facing a fetal anomaly diagnosis and determine their optimal use and (2) assess the usability and feasibility of the adapted setting-specific PROMs in a Dutch Fetal Medicine Department.

Method: A diverse expert panel of parents and healthcare professionals selected relevant PROMs along with their optimal timing and application. In a subsequent pilot feasibility study, parents completed the PROMs and discussed results with professionals. Responses were converted to T-scores using the PROMIS short forms. Usability and feasibility were assessed via questionnaires.

Results: Twenty-eight participants (19 parents, 9 professionals) agreed on two key PROMs: "ability to participate in social roles" and 'emotional distress (anxiety and depression)'. In the pilot study (n = 32; 21 parents, 11 professionals), PROMs were completed in 5.9 min on average, with participants opting to complete PROMs digitally from home. Parents found PROMs useful for enhancing communication with their partners and healthcare providers. The study identified the need for case managers, training on interpreting PROM results, a user-friendly Information Technology (IT) platform, and customized PROMs.

Conclusion: This study shows potential benefits of PROMs in Fetal Medicine but encountered challenges regarding complexity, professional engagement, and time constraints in practice.