Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort.

To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed. A total of 190 cases of fetal AVSD were analyzed. Complete AVSDs comprised 141 (74.2%) of the cohort, while partial AVSDs comprised 49 (25.7%). Karyotype was completed in 131 cases, and in 98 (74.8%) cases chromosomal abnormalities were identified, with trisomy 21 being the most common (53/131, 40.5%). Complete AVSDs were associated with trisomy 21 (45.5%, p = 0.04), Isolated cases of complete AVSDs (p = 0.03). Partial AVSDs were associated with trisomy 18 (53.1%, p < 0.001). In cases of partial AVSDs with aneuploidies, 7 (70%) had an ostium primum defect and 20 (90.9%) of AV canal type VSD. Isolated partial AVSD had no clear association with aneuploidies. There were additional cardiac anomalies in 96 (50.5%) and extracardiac anomalies in 134 (70.5%) of the cohort. There were no differences between partial and complete AVSD in rate of additional cardiac and extracardiac anomalies. AVSD was part of a heterotaxy in 47 (24.7%) of cases, and heterotaxy was associated with complete AVSD in the majority of cases (43/47, 91.4%, p = 0.003). Fetal partial AVSDs are associated with trisomy 18. Fetal complete AVSDs, even isolated, are associated with trisomy 21. There were no differences in association of other aneuploidies, additional cardiac findings, or extracardiac anomalies between prenatally diagnosed complete AVSDs and partial AVSDs.

Aberrant right subclavian artery in the absence of other prenatal ultrasound findings: Should we still be concerned?

OBJECTIVE: To analyze the value of prenatal diagnostic genetic testing in cases with isolated aberrant right subclavian artery (ARSA). METHODS: This is a retrospective cohort study, conducted between January 2015-January 2022 in a fetal medicine center. Women who had an ultrasound scan and diagnosed with fetal ARSA were included. Ultrasonographic characteristics, genetic, obstetric, and neonatal outcomes were collected and analyzed. RESULTS: A total of 240 fetuses with ARSA were identified and included to the analysis. Eighty-two of the group had isolated ARSA (34.2%, 82/240), 57 had additional soft markers (23.8%, 57/240) and 101 had additional major ultrasonographic abnormalities (42.1%, 101/240). Genetic results were available in 196 cases (81.7%, 196/240). Seventy-four of isolated ARSA cases underwent genetic testing (90.2%, 74/82). A chromosomal abnormality was present in 60 cases; 54 (22.5%, 54/240) aneuploidies and 6 (2.5%, 6/240) copy number variants. Five (6.1%) of the isolated ARSA cases had chromosomal abnormalities. All of these five cases had prenatal genetic testing due to high-risk aneuploidy screening fetuses who had ARSA with at least one additional anomaly had the highest chromosomal abnormality rate (38.6%, 39/101). Seventy-seven of isolated ARSA cases were liveborn (93.9%, 77/82). CONCLUSION: Our results supports the evidence from the literature that isolated ARSA confers a very low-risk for aneuploidy, if the aneuploidy screening tests are low-risk. Also, chromosomal microarray analysis did not yield any extra information in isolated ARSA.

Natural history of fetal ovarian cysts in the prenatal and postnatal periods.

PURPOSE: To determine the natural history of fetal ovarian cysts and to investigate whether the prognosis can be predicted by prenatal ultrasonography (US). METHODS: This retrospective study includes cases of fetal ovarian cysts diagnosed by prenatal US over a 6-year period. Cases were divided into four subgroups of cysts (small and simple, small and complex, large and simple, large and complex) according to their size and echotexture. US examinations were repeated every 2 weeks from the time of diagnosis to treatment. RESULTS: A total of 37 cases were included in the study. 32.4% of the cases regressed spontaneously in the prenatal period and 32.4% did so in the infantile period. Prenatal resolution occurred more frequently with small cysts than with large cysts (p = 0.03). Neonates with complex cysts required surgical treatment more often than neonates with simple cysts (p = 0.009). 27.0% of the cases underwent surgery due to ovarian torsion. The torsion rate of fetal ovarian cysts that progressed in the prenatal period was significantly higher than in the case of stable cysts (p = 0.001). CONCLUSION: The size of the fetal ovarian cysts, their US appearance and the progression of the cysts during follow-up are the main determinants of the neonatal outcome.

Can we predict the need for postnatal surgery in patients with prenatal fetal lung masses detected by CVR value?

AIM: The purpose of this study is to evaluate whether CPAM-volume ratio (CVR) can predict postnatal management (follow up for resolution and surgical treatment) in fetuses with fetal lung masses in the prenatal period. MATERIALS AND METHODS: 44 patients who presented at our center with prenatally diagnosed CPAM (Congenital Pulmonary Airway Malformation) and BPS (Bronchopulmonary Sequestration) were analyzed. Obstetric history and outcomes, karyotype results, CVR, additional sonographic findings, characteristics of masses were recorded. CVR was calculated for all cases. In the study we sought to identify a CVR threshold and did not use the thresholds classically used in the literature. RESULTS: 20 fetal BPS and 24 CPAM cases were analyzed. After excluding 5 patients, 46% of the patients were diagnosed with BPS and 54% with CPAM. In this study the cut off < 0,53 for CVR is taken, it predicts the no need for postnatal surgery with a sensitivity of 85% and a specificity of 88%. When we take the > 0,76 cut-off value for patients who will require emergency surgery within the first 10 days, it predicts the need for surgery with 90% sensitivity and 89% specificity. In addition, it was determined that all patients with mediastinal shift were operated. CONCLUSION: We believe that the CVR value and the presence of mediastinal shift should be evaluated in all cases of CPAM and BPS for prediction of the surgery. Proper counseling about the prognosis could be given to the family in cases with mediastinal shift and CVR value above 0,76.