Amniocentesis in pregnancies at or beyond 24 weeks: an international multicenter study.

BACKGROUND: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse. OBJECTIVE: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation. STUDY DESIGN: We conducted an international multicenter retrospective cohort study examining pregnant individuals who underwent amniocentesis for prenatal diagnostic testing at gestational ages between 24w0d and 36w6d. The study, spanning from 2011 to 2022, involved 9 referral centers. We included singleton or twin pregnancies with documented outcomes, excluding cases where other invasive procedures were performed during pregnancy or if amniocentesis was conducted for obstetric indications. We analyzed indications for late amniocentesis, types of genetic tests performed, their results, and the diagnostic yield, along with pregnancy outcomes and postprocedure complications. RESULTS: Of the 752 pregnant individuals included in our study, late amniocentesis was primarily performed for the prenatal diagnosis of structural anomalies (91.6%), followed by suspected fetal infection (2.3%) and high-risk findings from cell-free DNA screening (1.9%). The median gestational age at the time of the procedure was 28w5d, and 98.3% of pregnant individuals received results of genetic testing before birth or pregnancy termination. The diagnostic yield was 22.9%, and a diagnosis was made 2.4 times more often for fetuses with anomalies in multiple organ systems (36.4%) compared to those with anomalies in a single organ system (15.3%). Additionally, the diagnostic yield varied depending on the specific organ system involved, with the highest yield for musculoskeletal anomalies (36.7%) and hydrops fetalis (36.4%) when a single organ system or entity was affected. The most prevalent genetic diagnoses were aneuploidies (46.8%), followed by copy number variants (26.3%) and monogenic disorders (22.2%). The median gestational age at delivery was 38w3d, with an average of 59 days between the procedure and delivery date. The overall complication rate within 2 weeks postprocedure was 1.2%. We found no significant difference in the rate of preterm delivery between pregnant individuals undergoing amniocentesis between 24 and 28 weeks and those between 28 and 32 weeks, reinforcing the procedure's safety across these gestational periods. CONCLUSION: Late amniocentesis, at or after 24 weeks of gestation, especially for pregnancies complicated by multiple congenital anomalies, has a high diagnostic yield and a low complication rate, underscoring its clinical utility. It provides pregnant individuals and their providers with a comprehensive diagnostic evaluation and results before delivery, enabling informed counseling and optimized perinatal and neonatal care planning.

The Hard Palate Sweep: a multiplanar 2-dimensional sonographic method for the prenatal detection of cleft palate.

BACKGROUND: Prenatal diagnosis of cleft palate is challenging. Numerous 2-dimensional and 3-dimensional methods have been proposed to assess the integrity of the fetal palate, yet detection rates remain relatively low. We propose the "Hard Palate Sweep," a novel 2-dimensional method that enables clear demonstration of the entire fetal palate throughout pregnancy, in a single sweep, avoiding acoustic shadows cast by surrounding bones. OBJECTIVE: This study aimed to assess the feasibility and performance of the Hard Palate Sweep, performed throughout pregnancy. STUDY DESIGN: This was a prospective cross-sectional study performed between 2018 and 2022 in pregnant patients referred for a routine or targeted anomaly scan between 13 and 40 weeks of gestation. The presence or absence of a cleft palate was determined using the "Hard Palate Sweep." This was compared with the postnatal palate integrity assessment. Test feasibility and performance indices, including sensitivity, specificity, and positive and negative predictive values were calculated. Offline clips were reviewed by 2 investigators for the assessment of inter- and intraoperator agreement, using Cohen's kappa formula. The study protocol was approved by the institutional ethics committee. All participating patients were informed and provided consent. RESULTS: A total of 676 fetuses were included in the study. The Hard Palate Sweep was successfully performed in all cases, and 19 cases were determined to have a cleft palate. Of these, 13 cases were excluded because postmortem confirmation was not performed, leaving 663 cases available for analysis. Six cases determined to have a cleft palate were confirmed postnatally. In 655 of 657 cases prenatally determined to have an intact palate, this was confirmed postnatally. In the 2 remaining cases, rare forms of cleft palate were diagnosed postnatally, rendering 75% sensitivity, 100% specificity, 100% positive predictive value, and 99.7% negative predictive value for the Hard Palate Sweep (P<.001). There was complete intra- and interoperator agreement (kappa=1; P<.0001). CONCLUSION: The Hard Palate Sweep is a feasible and accurate method for prenatally detecting a cleft palate. It was successfully performed in all attempted cases between 13 and 40 weeks of gestation. This method is reproducible, offering high sensitivity and specificity. Implemented routinely, the Hard Palate Sweep is expected to increase the prenatal detection of cleft palate.

Clinical implications of a cesarean scar pregnancy sonographic evaluation and reporting system.

OBJECTIVES: Recently, a new standardized sonographic evaluation system for cesarean scar pregnancies (CSP) was published. We aimed to evaluate the clinical outcomes of CSP cases according to the new sonographic evaluation and reporting system. STUDY DESIGN: A retrospective study conducted at a single tertiary center. All CSPs between 1/2011 and 4/2022 were included. Cases were evaluated by expert sonographers and classified into three categories: 1) CSP in which the largest part of the gestational sac (GS) protrudes towards the uterine cavity; 2) CSP in which the largest part of the GS is embedded in the myometrium but does not cross the serosal contour; and 3) CSP in which the GS is partially located beyond the outer contour of the cervix or uterus.Baseline characteristics, management and outcomes were compared between the three categories. RESULTS: Overall, 55 patients were diagnosed with CSP during the study period; 10 (18.1 %) type 1, 31 (56.3 %) type 2, and 14 (25.4 %) type 3. Baseline characteristics were similar among groups. Compared with type 2 and 3, patients diagnosed with CSP type 1 received less methotrexate treatment [83.9 % and 78.6 % vs. 40.0 %, respectively, p = 0.020]. The rates of need for invasive procedures, urgent procedures, major bleeding, length of hospitalization, and subsequent pregnancies were similar between groups. CONCLUSIONS: No clinically significant differences were found between groups divided by the new standardized sonographic evaluation and reporting system for CSP in pregnancy characteristics, management, and subsequent pregnancy outcomes. Further investigation is required to enable informed management of CSP based on the new sonographic reporting system.

The Role of Cerclage in Subsequent Pregnancy following Previable Prelabor Rupture of Membranes.

OBJECTIVE: This study aimed to ascertain the outcomes associated with a cervical cerclage among individuals with a history of previable prelabor rupture of membranes (PROM). STUDY DESIGN: This study was a retrospective cohort study conducted at a single tertiary center between 2011 and 2021. We included individuals with a history of previable (before 24 weeks) PROM and the subsequent viable pregnancy. Women with multifetal gestation, preterm birth (PTB) or cerclage in previous gestation, or abdominal cerclage after trachelectomy were excluded. Primary outcome was PTB rate (delivery <37 weeks). Recurrence of preterm PROM and adverse composite maternal and neonatal outcomes (CMO and CNO) were evaluated as secondary outcomes. CMO included any of the following: suspected chorioamnionitis, endometritis, red blood cell transfusion, uterine rupture, unplanned hysterectomy, or death. CNO included any of the following: previable PTB (<24 weeks of gestation), bronchopulmonary dysplasia, grade 3 or 4 intraventricular hemorrhage, necrotizing enterocolitis, mechanical ventilation, seizures, hypoxic ischemic encephalopathy, or death. RESULTS: During the study period, 118 individuals had a history of previable PROM and a documented subsequent pregnancy, out of which 74 (62.7%) met inclusion criteria. Nineteen (25.7%) of eligible individuals underwent a cerclage for prior previable PROM and were compared with controls (n = 55, 74.3%). Women who underwent a cerclage had higher rates of PTB < 37 weeks (63.2 vs. 10.9%, p < 0.001; odds ratio [OR]: 14.00, 95% confidence interval [CI]: 3.97-49.35) and < 34 weeks (21.1 vs. 3.6%, p = 0.03; OR: 7.07, 95% CI: 1.18-42.39) compared with those without cerclage. Furthermore, recurrent preterm PROM and previable PTB rates were higher among patients who underwent cerclage. The survival curve further indicated that individuals with cerclage delivered earlier. CMO and CNO rates were similar in those with and without cerclage. CONCLUSION: Cerclage placement in individuals with prior previable PROM was associated with higher rates of recurrent preterm PROM and PTB. KEY POINTS: · The management of individuals in a subsequent pregnancy following previable PROM is a conundrum.. · Cerclage following previable PROM is associated with higher rates of recurrent preterm PROM and PTB.. · Composite maternal and neonatal outcome rates were similar in those with and without cerclage..