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Introduction: The aim of this study was, first, to investigate the difference in fetal atrioventricular conduction in patients with and without intrahepatic cholestasis of pregnancy (ICP) by measuring the fetal PR interval; second, to evaluate the altering effect of ursodeoxycholic acid (UDCA) treatment on the fetal PR interval in ICP patients. Methods: The study consisted of 42 ICP patients and 48 healthy pregnant women. Fetal echocardiography was performed to measure the mechanical PR interval. The fetal PR interval and the clinical characteristics were compared between the two groups. The effect of UDCA treatment on the fetal PR interval in ICP patients was evaluated. Results: In ICP patients, significantly longer fetal PR intervals were observed than in the control group (123.21 ± 8.54 vs. 115.13 ± 5.95 ms, p < 0.001). In the ICP group, there was a positive correlation between the fetal PR interval and maternal fasting total bile acid (TBA) levels (r = 0.514, p = 0.001). After 1 week of treatment with UDCA in patients with ICP, the PR interval was shorter than before, although the reduction was not statistically significant (120.98 ± 6.70 vs. 123.21 ± 8.54 ms, p = 0.095). In patients with severe ICP (TBA >40 mmol/L, n = 10), a significant reduction in the fetal PR interval was observed after treatment with UDCA (127.5 ms [IQR, 118.0–134.75] before vs. 122 ms [IQR, 109.5–126.5] after, p = 0.037). Conclusion: Fetal PR interval increased in ICP patients in correlation with maternal serum TBA concentration. Treatment with UDCA may have limited positive effects on the fetal AV conduction system. The beneficial effects of UDCA on the fetal PR interval may be more pronounced in patients with higher bile acid levels. [ABSTRACT FROM AUTHOR]

Objective: Ebstein’s anomaly (EA) is a rare congenital malformation associated with high perinatal mortality. In this study, we aimed to assess perinatal outcomes and factors associated with mortality in fetuses with EA. Material and Method: In this study, fetuses diagnosed with EA from 2016 to 2022 were included. Clinical information, ultrasonographic findings, and Doppler parameters were collected retrospectively. Result: A total of 14 fetuses with EA were included. Twelve patients had isolated EA, while one had unilateral renal agenesis and the other had mega cisterna magna. Amniocentesis was performed in six cases and normal results were obtained. Nine fetuses reached term pregnancy. All fetuses survived to birth. Three cases died in the first week after birth. Survivors were found to have lower tricuspid valve annulus diameter z score when compared with non-survivors (4.81±3.05 vs 6.97±1.26, respectively, p=0.05). Reversal pulmonary artery flow (2/11 vs 4/4 in survivors and non-survivors, respectively, p=0.01) and pulmonary atresia (1/11 vs 4/4 in survivors and non-survivors, respectively, p<0.01) were significantly more frequent in non-survivors. Conclusion: Perinatal mortality remains high in EA. Higher tricuspid valve annulus diameter z score, presence of reversal pulmonary artery flow, and pulmonary atresia during prenatal diagnosis are associated with poorer diagnosis. Future multicenter studies are warranted to identify risk factors and guide perinatal management. [ABSTRACT FROM AUTHOR]

Purpose: Our aim in this study was to investigate the prenatal and postnatal prognosis of double outlet right ventricle (DORV) cases diagnosed prenatally by analyzing the outcomes based on the subtype. Methods: This study is a retrospective chart review. Cases diagnosed with fetal DORV by prenatal ultrasound in the maternal–fetal medicine department of our hospital between 2014 and 2022 were included. Data on maternal characteristics, fetal echocardiographic features (type of DORV), pregnancy and neonatal outcomes (termination of pregnancy [TOP], intrauterine fetal death [IUD], neonatal death [NND], death in infancy (IND), survival) were collected and analyzed. Results: Ninety‐nine cases of prenatally diagnosed cases of DORV were included. The prenatal diagnosis was right in 97% of the liveborn fetuses. The cases were classified into subtypes, including transposition of great arteries (TGA), Fallot, ventricular septal defect (VSD), remote, and heterotaxy types. The cohort consisted of 32.3% TGA type, 19.1% fallot type, 11.1% VSD type, 2% remote type, and 35.3% heterotaxy type of DORV. An additional cardiac anomaly was observed in 87% and an extra‐cardiac anomaly was observed in 54% of the cases. When we excluded the cases with heterotaxy type but without any chromosomal abnormality, additional genetic abnormalities were detected in 42% of the remaining cases. Outcome of pregnancy was livebirth in 68/99 (68.7%), IUFD in 5/99 (5.1%), and TOP in 26/99 (26.3%). Postnatal cardiac surgical repair was performed in 48 cases. Survival among livebirths was 39/68 (57.3%). Twenty‐nine neonates or infants who had additional cardiac anomalies and/or genetic abnormalities died before any surgical intervention. The postoperative survival rate was 39/48 (81.2%). Conclusion: The prognosis in DORV depends on the anatomical subtype, the presence, and severity of associated anomalies. Survival increases in isolated cases without any additional structural or genetic anomalies. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate fetal ultrasonographic findings and perinatal outcomes in pregnancies with fetal trisomy 18, trisomy 13, and triploidy. Material and Methods: Pregnancies diagnosed as fetal trisomy 18, trisomy 13, and triploidy at a tertiary center between January 2013 and January 2020 were included in the study. Maternal ages, gestational ages at the time of diagnosis, antenatal follow-ups, prenatal fetal ultrasonography reports, perinatal outcomes, whether the pregnancies resulted in live births, and the outcomes of the newborns were obtained. Results: A total of 104 cases (trisomy 18 [n=74, 71.2%], trisomy 13 [n=21, 20.2%], and triploidy [n=9, 8.6%]) were included in the study, and pregnancy was terminated in 79 (76.0%) of the cases. The most common anomaly was cardiac malformations in fetuses with trisomy 18 and triploidy, and central nervous system anomalies in fetuses with trisomy 13. Of 25 patients who preferred to continue the pregnancy, nine (36.0%) resulted in miscarriage and 13 (52.0%) resulted in fetal death. In all three pregnancies that resulted in live births, newborns died in the early neonatal period. Conclusion: Most fetuses with trisomy 18, trisomy 13, and triploidy have severe fetal malformations. In cases where the pregnancy is not terminated, the risk of fetal loss is high. Patients with the expectation of self-termination should be informed that this loss may not occur until the third trimester and that pregnancy may result in a live birth. [ABSTRACT FROM AUTHOR]

Objective: To investigate the importance of prenatal ultrasound in the detection of Down syndrome by evaluating ultrasonographic and minor ultrasonographic findings in fetuses with this aneuploidy. Methods: Patients who were reported to have trisomy 21 as a result of karyotype analysis performed by cordocentesis, amniocentesis, or chorionic villus biopsy materials and who underwent ultrasound scan before diagnosis between 18 and 26 weeks of gestation by the Maternal Fetal Medicine Department between 2013 and 2020 were included in the study group. Results: The results of 132 of 4525 (2.9%) invasive procedures were reported to have trisomy 21 and ultrasound scans of each fetus were performed in our department. The mean gestational age at the ultrasound scans was 19.2±3.8 (SD) weeks. At least one major structural anomaly or minor ultrasonographic finding was detected in 99.2% of all fetuses. Major structural anomalies were present in 80 (60.6%) fetuses. In fetuses with major structural anomalies, cardiac defects (53.7%) were the most detected anomalies. No ultrasound findings could be detected in one (0.8%) of the remaining 52 patients, and only isolated minor findings were detected in 51 (38.6%) fetuses. More than half (60.7%) of these fetuses had a single minor finding. The most common isolated single minor finding was nuchal fold thickness in 13 (41.9%) fetuses followed by aberrant right subclavian artery in six (19.3%) fetuses. Conclusion: Down syndrome displays a large variety of different sonographic findings on fetal ultrasound. Although major structural anomalies and multiple minor findings are generally considered more important, the presence of any isolated minor marker may be the only detectable finding of Down syndrome. [ABSTRACT FROM AUTHOR]

Introduction Materials and Methods Results Conclusion Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses.This was a retrospective study examining consecutive pregnancies diagnosed as having PRUV in our hospital between 2017 and 2022.A total of 41 patients were diagnosed as having fetuses with PRUV during the study period. Additional ultrasound findings were detected in 26 fetuses (63.4%). The most common associated finding was fetal growth restriction, which was found in 15 (36.5%) of 41 fetuses. This was followed by cardiovascular findings in eight (19.5%) fetuses. Genetic anomalies were detected in five (12.1%) fetuses. Down syndrome was detected in two fetuses (4.8%), nail‐patella syndrome in one fetus (2.4%), duplication of 7p was found in one fetus (2.4%), and Potocki‐Lupski syndrome (2.4%) was diagnosed in one fetus.In our study we found that even in isolated cases, genetic syndromes could coexist and fetal growth could be impaired so it should be closely monitored. [ABSTRACT FROM AUTHOR]

Introduction: Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses., Materials and Methods: This was a retrospective study examining consecutive pregnancies diagnosed as having PRUV in our hospital between 2017 and 2022., Results: A total of 41 patients were diagnosed as having fetuses with PRUV during the study period. Additional ultrasound findings were detected in 26 fetuses (63.4%). The most common associated finding was fetal growth restriction, which was found in 15 (36.5%) of 41 fetuses. This was followed by cardiovascular findings in eight (19.5%) fetuses. Genetic anomalies were detected in five (12.1%) fetuses. Down syndrome was detected in two fetuses (4.8%), nail-patella syndrome in one fetus (2.4%), duplication of 7p was found in one fetus (2.4%), and Potocki-Lupski syndrome (2.4%) was diagnosed in one fetus., Conclusion: In our study we found that even in isolated cases, genetic syndromes could coexist and fetal growth could be impaired so it should be closely monitored., (© 2024 Japan Society of Obstetrics and Gynecology.)