Fetal Diagnosis and Therapy最新文献

Introduction: Ultrasonography in the first trimester of pregnancy offers an early screening tool to identify high risk pregnancies. Artificial intelligence (AI) algorithms have the potential to improve the accuracy of diagnosis and assist the clinician in early risk stratification.

Objective: The objective of the study was to conduct a systematic review of the use of AI in imaging in the first trimester of pregnancy.

Methods: We conducted a systematic literature review by searching in computerized databases PubMed, Embase, and Google Scholar from inception to January 2024. Full-text peer-reviewed journal publications written in English on the evaluation of AI in first-trimester pregnancy imaging were included. Review papers, conference abstracts, posters, animal studies, non-English and non-peer-reviewed articles were excluded. Risk of bias was assessed by using PROBAST.

Results: Of the 1,595 non-duplicated records screened, 27 studies were included. Twelve studies focussed on segmentation, 8 on plane detection, 6 on image classification, and one on both segmentation and classification. Five studies included fetuses with a gestational age of less than 10 weeks. The size of the datasets was relatively small as 16 studies included less than 1,000 cases. The models were evaluated by different metrics. Duration to run the algorithm was reported in 12 publications and ranged between less than one second and 14 min. Only one study was externally validated.

Conclusion: Even though the included algorithms reported a good performance in a research setting on testing datasets, further research and collaboration between AI experts and clinicians is needed before implementation in clinical practice.

Introduction: The modified myocardial performance index (mod-MPI) is a noninvasive Doppler-derived metric used to evaluate fetal cardiac function. However, the reference ranges for mod-MPI in normal fetuses are not clearly defined, which limits the use of this technology in fetuses with potential cardiac compromise. Thus, we aimed to perform a systematic review and meta-analysis of published mod-MPI reference ranges across gestation.

Methods: The published literature was systematically searched, and all published articles in any language that provided values for the left ventricular mod-MPI obtained in low-risk, singleton fetuses were considered eligible for further review. All retrieved titles and abstracts were independently reviewed by two researchers. Mean and standard deviation by gestational week was extracted or calculated from published data. DerSimonian-Laird random-effects models were used to estimate pooled means and 95% confidence intervals (CIs).

Results: The search resulted in 618 unique citations, of which 583 did not meet inclusion criteria, leaving 35 abstracts selected for full-text review. Review of the references of these 35 articles identified another 5 studies of interest. Of the 40 articles reviewed, six met inclusion criteria. There was significant heterogeneity seen in the mod-MPI results reported. Mod-MPI increased as pregnancy progressed in all studies. The pooled mean mod-MPI at 11 weeks' gestation was 0.400 (95% CI 0.374-0.426) and increased to 0.585 (95% CI 0.533-0.637) at 41 weeks' gestation. The increase was linear in 5 of 6 studies, while in 1 study, the mod-MPI was stable until 27 weeks' gestation, and then increased throughout the third trimester. Despite all having trends increasing over pregnancy, there was no study in which all the weekly means fell within the pooled 95% CI.

Conclusion: While mod-MPI does increase over gestation, the true "reference ranges" for fetuses remain elusive. Future efforts to further optimize calculation of time intervals possibly via automation are desperately needed to allow for reproducibility of this potentially very useful tool to assess fetal cardiac function.

Background: Fetal lower urinary tract obstruction (LUTO) is a rare congenital anomaly in which the bladder cannot empty properly. The clinical presentation is variable. On the severe end of the spectrum, the amniotic fluid index can be sufficiently low, resulting in fetal lung development that is incompatible with life outside the womb. The pressure in the urinary tract system can also result in severe damage to the kidney, resulting in renal failure in utero or in the first couple years of life. Therefore, much work has been done to determine which fetuses need intervention in utero to allow for survival outside of the womb and avoidance of end-stage renal disease. Multiple therapies have been developed to relieve the obstruction in utero with the mainstay being vesicoamniotic shunting and posterior urethral valve ablation.

Summary: While much has been investigated to determine which fetuses would benefit from fetal intervention, the current indications are not without their flaws. This review describes the current indications and their shortcomings, as well as new experimental methods of determining need for intervention. Additionally, this review describes the milestone animal studies that established the challenges of current fetal interventions and the utility of an experimental valved shunt in sheep over the last 20 years.

Key messages: Our understanding of LUTO and which fetuses benefit from in utero intervention has grown over the last 20 years. However, traditional markers have proven to be less predictive than previously thought, opening the door to exciting new advances. Vesicoamniotic shunting, while lifesaving, does not preserve bladder function and frequently dislodges. Animal studies over the last 20 years have established the utility of a valved shunt to maintain bladder function. Current advances are working to create such a shunt that can be percutaneously deployed and have greater adherence to the bladder wall to avoid dislodgement.

Fetal inguinal hernia (FIH) is a rare event and only few cases were published in the medical literature. In the present study, we aimed to characterize the sonographic features, clinical presentation, management, outcomes, and differential diagnoses of FIH. Accordingly, we reviewed all 17 cases of FIH published in the medical literature, including one new case evaluated by our group. All 17 cases (100%) were male, and FIH is presented as a scrotal mass with a mean diameter of 38 ± 9.5 mm. The right side was dominant (62%). Peristalsis was reported in 80% of the cases, and blood flow was reported in two-thirds. Most cases were diagnosed in the third trimester (88%) at a mean gestational age (GA) of 33.1 ± 5.2 weeks. 60% of the cases had isolated FIH, and 40% had another sonographic or genetic abnormality. Three cases (18%) were syndromic with multiple malformations: trisomy 18, skeletal anomalies due to Jarcho-Levin syndrome, and undefined multiple joint contractures. Two cases (12%) had copathologies in the gastrointestinal tract: one had an echogenic bowel due to homozygosity for cystic fibrosis, and the other had low anorectal malformation. Bowel loop dilatation was observed prenatally in both cases and in another one isolated case (18%). GA at delivery was 38 ± 1.8 weeks, and the median time between diagnosis and delivery was 3 weeks. All three cases of neonatal death occurred in syndromic fetuses. All patients with nonsyndromic inguinal hernias underwent definitive surgical repair at a median of 13 days postpartum. No signs of strangulation and only one case of edematous bowel without necrosis have been reported. In conclusion, FIH should be suspected in male fetuses when an intrascrotal mass with peristalsis is diagnosed during the third trimester. Close follow-up until term in the absence of signs of bowel obstruction is reasonable, and in isolated FIH, the prognosis is favorable.

Introduction: Congenital dermal sinus (CDS) is an open neural tube defect (NTD) that occurs in 1 in 2,500 births a year and often goes undetected until patients present with complications like infection and neurological deficits. Early diagnosis and repair of CDS may prevent formation of these complications. In utero diagnosis of these lesions may improve long-term outcomes by enabling referral to specialty services and planned postnatal repair; however, only 2 such cases have been reported in the literature. We present a third case of in utero diagnosis of CDS with a description and discussion of findings from surgical exploration and pathology.

Case presentation: Routine prenatal ultrasound scan detected a tethered cystic structure arising from the back of the fetus at 20 weeks of gestation. Dedicated fetal ultrasound confirmed the presence of a cystic lesion protruding through a lamina defect, while fetal magnetic resonance imaging showed an intact spinal cord and meninges, suggesting a diagnosis of CDS. Neurosurgery followed along closely and took the child for surgical exploration on day 2 of life. A fibrous stalk with an intradural component and associated cord tethering was excised. Histology showed fibrous tissue without an epithelial-lined lumen.

Conclusion: CDS is a form of NTD that occurs from nondisjunction of the cutaneous ectoderm and neuroectoderm during formation of the neural tube. Slight differences in how this error occurs can explain variations seen in this spectrum of disease, including CDS without an epithelial-lined lumen as seen in this case. Newborns with CDS can go undiagnosed for years and present with long-term complications. Fetal imaging can assist in early recognition and surgical excision of CDS in newborns.

Introduction: OpenAI's GPT-4 (artificial intelligence [AI]) is being studied for its use as a medical decision support tool. This research examines its accuracy in refining referrals for fetal echocardiography (FE) to improve early detection and outcomes related to congenital heart defects (CHDs).

Methods: Past FE data referred to our institution were evaluated separately by pediatric cardiologist, gynecologist (human experts [experts]), and AI, according to established guidelines. We compared experts and AI's agreement on referral necessity, with experts addressing discrepancies.

Results: Total of 59 FE cases were addressed retrospectively. Cardiologist, gynecologist, and AI recommended performing FE in 47.5%, 49.2%, and 59.0% of cases, respectively. Comparing AI recommendations to experts indicated agreement of around 80.0% with both experts (p < 0.001). Notably, AI suggested more echocardiographies for minor CHD (64.7%) compared to experts (47.1%), and for major CHD, experts recommended performing FE in all cases (100%) while AI recommended in majority of cases (90.9%). Discrepancies between AI and experts are detailed and reviewed.

Conclusions: The evaluation found moderate agreement between AI and experts. Contextual misunderstandings and lack of specialized medical knowledge limit AI, necessitating clinical guideline guidance. Despite shortcomings, AI's referrals comprised 65% of minor CHD cases versus experts 47%, suggesting its potential as a cautious decision aid for clinicians.

Introduction: The aim of this study was to assess the short- and long-term outcome of selective reduction by fetoscopy-guided bipolar cord coagulation in monochronic twin pregnancies.

Methods: Retrospective analysis was conducted of a consecutive cohort of all monochorionic twin pregnancies treated with fetoscopy-guided bipolar cord coagulation between December 2015 and December 2022 in a single center in China.

Results: A total of 43 monochronic twin pregnancies undergoing fetoscopy-guided bipolar cord coagulation were analyzed. There were 5 intrauterine deaths with an 88.4% (38/43) survival rate overall. The preterm premature rupture of the membranes rate was 13.2%, and the preterm birth before 37 and 32 weeks was 42.1% and 13.1%, respectively. An uptrend in the survival rate (78.9 vs. 95.8%, p = 0.086) and a downtrend of procedure time (30 vs. 16.5 min, p = 0.036) were observed over time (period 1 from December 2015 to December 2019 verses period 2 from January 2020 to December 2022). Long-term outcome was assessed in 94.6% (35/37) of survivors, and 91.4% (32/35) had normal neurodevelopmental outcome.

Conclusion: Fetoscopy-guided bipolar cord coagulation for fetal reduction in complicated monochorionic twin pregnancies could achieve a favorable short- and long-term outcome, especially in experienced hands.

These guidelines follow the mission of the World Association of Perinatal Medicine, in collaboration with the Perinatal Medicine Foundation, which brings together groups and individuals worldwide, with the aim to improve prenatal detection of central nervous system anomalies and the appropriate referral of pregnancies with suspected fetal anomalies. In addition, this document provides further guidance for healthcare practitioners with the goal of standardizing the description of ultrasonographic abnormal findings.

Introduction: For open fetal spina bifida (fSB) repair, a maternal laparotomy is required. Hence, enhanced maternal recovery after surgery (ERAS) is paramount. A revision of our ERAS protocol was made, including changes in operative techniques and postoperative pain management. This study investigates eventual benefits.

Methods: Our study included 111 women with open fSB repair at our center. The old protocol group (group 1) either received a transverse incision of the fascia with transection of the rectus abdominis muscle (RAM) or a longitudinal incision of the fascia without RAM transection, depending on placental location. The new protocol required longitudinal incisions in all patients (group 2). Postoperative pain management was changed from tramadol to oxycodone/naloxone. Outcomes of the two different protocol groups were analyzed and compared regarding the primary endpoint, the length of hospital stay (LOS) after fetal surgery, as well as regarding the following secondary endpoints: postoperative pain scores, day of first mobilization, removal of urinary catheter, bowel movement, and the occurrence of maternal and fetal complications.

Results: Out of 111 women, 82 (73.9%) were in group 1 and 29 (26.1%) were in group 2. Women in group 2 showed a significantly shorter LOS (18 [14-23] days vs. 27 [18-39] days, p = 0.002), duration until mobilization (3 [2-3] days vs. 3 [3-4] days, p = 0.03), and removal of urinary catheter (day 3 [3-3] vs. day 4 [3-4], p = 0.004). Group 2 less often received morphine subcutaneously (0% vs. 35.4%, p < 0.001) or intravenously (0% vs. 17.1%, p = 0.02) but more often oxycodone (69.0% vs. 18.3%, p < 0.001). No significant differences were seen regarding pain scores, bowel movement, and maternal and/or fetal complications.

Conclusion: The new ERAS protocol that combined changes in surgical technique and pain medication led to better outcomes while reducing LOS. Continuous revisions of current ERAS protocols are essential to improve patient care continuously.

Introduction: A critical component of an evidence-based reassessment of in-utero intervention for fetal aqueductal stenosis (fetal AS) is determining if the prenatal diagnosis can be accurately made at a gestational age amenable to in-utero intervention.

Methods: A multicenter, prospective, observational study was conducted through the North American Fetal Therapy Network (NAFTNet). Pregnancies complicated by severe central nervous system (CNS) ventriculomegaly (lateral ventricle diameter >15 mm) not secondary to a primary diagnosis (myelomeningocele, encephalocele, etc.) were recruited at diagnosis. Imaging and laboratory findings were recorded in an online REDCap database. After evaluation, investigators were asked to render their degree of confidence in the diagnosis of fetal AS. The prenatal diagnosis was compared to the postnatal diagnosis obtained through neonatal neuroimaging. Performance characteristics of ultrasound and magnetic resonance imaging (MRI) were calculated, as was the mean gestational age at diagnosis.

Results: Between April 2015 and October 2022, eleven NAFTNet centers contributed 64 subjects with severe fetal CNS ventriculomegaly. Of these, 56 had both prenatal and postnatal diagnoses recorded. Ultrasound revealed 32 fetal AS true positives, 4 false positives, 7 false negatives, and 13 true negatives, rendering a sensitivity of 0.82, a specificity of 0.76, a positive predictive value of 0.89, and a negative predictive value of 0.65. The mean gestational age at diagnosis by ultrasound was 25.5 weeks (std +/- 4.7 weeks). The proportion of agreement (true positive + true negative/n) was highest at 24 weeks gestation. For fetal MRI (n = 35), the sensitivity for fetal AS was 0.95, specificity was 0.69, positive predictive value was 0.84, and negative predictive value was 0.90. MRI was performed at 25 weeks on average.

Conclusion: The prenatal diagnosis of fetal AS can be made with accuracy at a gestational age potentially amenable to in-utero intervention. Only 7% of subjects were incorrectly diagnosed prenatally with fetal AS by ultrasound and 11% by MRI. Diagnostic accuracy of fetal AS will likely improve with increased experience.