Feasibility and impact of ketogenic dietary interventions in polycystic kidney disease: KETO-ADPKD-a randomized controlled trial.

Ketogenic dietary interventions (KDIs) are beneficial in animal models of autosomal-dominant polycystic kidney disease (ADPKD). KETO-ADPKD, an exploratory, randomized, controlled trial, is intended to provide clinical translation of these findings (NCT04680780). Sixty-six patients were randomized to a KDI arm (ketogenic diet [KD] or water fasting [WF]) or the control group. Both interventions induce significant ketogenesis on the basis of blood and breath acetone measurements. Ninety-five percent (KD) and 85% (WF) report the diet as feasible. KD leads to significant reductions in body fat and liver volume. Additionally, KD is associated with reduced kidney volume (not reaching statistical significance). Interestingly, the KD group exhibits improved kidney function at the end of treatment, while the control and WF groups show a progressive decline, as is typical in ADPKD. Safety-relevant events are largely mild, expected (initial flu-like symptoms associated with KD), and transient. Safety assessment is complemented by nuclear magnetic resonance (NMR) lipid profile analyses.

Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants.

OBJECTIVE: We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X. METHODS: From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant. RESULTS: We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with "variant" karyotypes had different anomalies. CONCLUSION: Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.

Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome.

OBJECTIVE: Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes. METHOD: Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. RESULTS: 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive. CONCLUSION: TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.

Prenatal Diagnosis, Associated Findings, and Postnatal Outcome in Fetuses with Double Inlet Ventricle (DIV).

PURPOSE: To assess the spectrum of associated cardiac anomalies, the intrauterine course, and postnatal outcome of fetuses with double inlet ventricle (DIV). METHODS: Retrospective analysis of prenatal ultrasound of 35 patients with DIV diagnosed between 2003 and 2021 in two tertiary referral centers in Germany. All fetuses underwent fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports. RESULTS: 33 cases of DIV were correctly diagnosed prenatally. 24 fetuses (72.7%) had a double inlet ventricle with dominant left (DILV), 7 (21.2%) with dominant right ventricular morphology (DIRV), and 2 cases (6%) with indeterminate morphology (DIIV). 4 (16.6%) were Holmes hearts. 5 of the 7 fetuses (71.4%) with DIRV had a double outlet right ventricle (DORV). Malposition of the great arteries was present in 84.8%. Chromosomal abnormalities were absent. Termination of pregnancy was performed in 8 cases (24.2%). 24 fetuses (72.7%) were live-born. 5 (20.8%) were female and 19 (79.2%) were male. The median gestational age at birth was 38+2.5 weeks. All but one child received univentricular palliation. The median follow-up time was 5.83 years with an adjusted survival rate of 91.6% (22 of 24 live-born children). There was one case of Fontan failure at 15.7 years. CONCLUSION: DIV remains a major cardiac malformation although both prenatal diagnostics and cardiac surgery have improved over the years. The course of pregnancy is commonly uneventful. All children need univentricular palliation. The children are slightly physically limited, develop a normal intellect, and attend school regularly.

Aorto-Left Ventricular Tunnel - Prenatal Diagnosis and Outcome.

PURPOSE: Aorto-left ventricular tunnel (ALVT) is an extremely rare, albeit prenatally detectable, extracardiac channel that connects the ascending aorta to the cavity of the left ventricle. MATERIALS AND METHODS: All ALVTs diagnosed prenatally (2006-2020) in five tertiary referral centers were retrospectively assessed for prenatal ultrasound findings, intrauterine course, postnatal outcome, and surgical treatment. We focused on the size of the tunnel and alterations of perfusion of the left ventricular outflow tract and aortic arch. RESULTS: 11 fetuses were diagnosed with ALVT at a mean gestational age of 24.8 weeks. All cases were associated with severe dilatation of the left ventricle and a to-and-fro flow in the left outflow tract. Signs of congestive heart failure were present in five fetuses, four of which were terminated and one of which died in the neonatal period. One fetus died in utero at 34 weeks without prior signs of cardiac failure. Of the five survivors, two underwent the Ross procedure. In both cases the prenatal left ventricular outflow was exclusively via a large tunnel. The remaining three neonates underwent patch closure of the tunnel. In these cases, the prenatal outflow of the left ventricle was via the aortic valve and simultaneously over the tunnel. CONCLUSION: Prenatal diagnosis of ALVT should be considered in the presence of left ventricular hypertrophy, dilatation of the aortic root, and to-and-fro flow in the aortic outflow tract. Signs of heart failure are associated with an unfavorable outcome. Large tunnels, particularly in combination with the absence of flow over the aortic valve, may be an unfavorable predictor of surgical repair.

Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?

Mirror syndrome is a rare and serious maternal condition associated with immune and non-immune fetal hydrops after 16 weeks of gestational age. Subjacent conditions associated with fetal hydrops may carry different risks for Mirror syndrome. Fetuses with Turner syndrome are frequently found to be hydropic on ultrasound. We designed a retrospective multicenter study to evaluate the risk for Mirror syndrome among pregnancies complicated with Turner syndrome and fetal hydrops. Data were extracted from a questionnaire sent to specialists in maternal fetal medicine in Germany. Out of 758 cases, 138 fulfilled our inclusion criteria and were included in the analysis. Of the included 138, 66 presented with persisting hydrops at or after 16 weeks. The frequency of placental hydrops/placentomegaly was rather low (8.1%). Of note, no Mirror syndrome was observed in our study cohort. We propose that the risk of this pregnancy complication varies according to the subjacent cause of fetal hydrops. In Turner syndrome, the risk for Mirror syndrome is lower than that reported in the literature. Our observations are relevant for clinical management and parental counseling.

Intrauterine Valvuloplasty in Severe Aortic Stenosis-A Ten Years Single Center Experience.

Objective: To assess the course and outcome of fetal aortic valvuloplasty (FAV) in fetuses with severe aortic stenosis (SAS) in a single center. Methods: All fetuses with a prenatal diagnosis of SAS with subsequent FAV were retrospectively collected in one tertiary center for fetal medicine over a period of 10 years. In the study, period fetuses with SAS were considered suitable for FAV in the presence of markedly elevated left ventricular pressures (maximum velocity of mitral regurgitation (MR Vmax) >250 cm/s and/or maximum velocity of aortic stenosis (AS Vmax) >250 cm/s), retrograde flow in the transverse aortic arch and a left ventricular length Z-score >−1. Results: In the study period 29 fetuses with AS were treated with 38 FAV. If reinterventions are included 82.7% of fetuses received a technically successful FAV. Procedure related death occurred in three (10.3%) cases, spontaneous fetal death in 2 (6.9%), and termination of pregnancy was performed in 3 cases (10.3%). Among the 21 live births (72.4%), four died in infancy. Among the remaining survivors, 8/17 (47.1%) had a biventricular outcome at the age of one year, 8/17 (47.1%) were univentricular and one infant (5.9%) is biventricular at the age of eight months. Fetuses with biventricular outcome had significantly greater left ventricular (LV) length Z-scores (p = 0.031), and lower tricuspid to mitral valve (TV/MV) ratios (p = 0.003). Conclusions: FAV has a high technical success rate and a low rate of procedure related mortality if performed in experienced hands. The success rate of biventricular circulation at the age of one year is moderate and seems to depend rather on the center's experience and postnatal surgical strategies than solely on prenatal selection criteria. In the absence of randomized controlled trials, FAV remains an experimental intervention.

Intrauterine Thoracoamniotic Shunting of Fetal Hydrothorax with the Somatex Intrauterine Shunt: Intrauterine Course and Postnatal Outcome.

(1) Background: Severe fetal hydrothorax can be treated by intrauterine thoracoamniotic shunting (TAS). The aim of this study was to assess perinatal outcome and complication rates of TAS with a novel Somatex intrauterine shunt. (2) Methods: This is a single-center retrospective study of all fetuses with hydrothorax treated with TAS using a Somatex shunt between 2014 and 2020. (3) Results: A total of 39 fetuses were included in the study. Mean gestational age at first intervention was 27.4 weeks (range 19-33). Of these, 51% (n = 20) of fetuses had fetal hydrops, which resolved in 65% (13/20) before delivery. The live birth rate was 97% (n = 38), and 74% (n = 29) survived the neonatal period. The rate of postnatal pulmonary complications was high, with 88% of neonates requiring any kind of ventilatory support. There were 23% (n = 9) genetic abnormalities (trisomy 21 and Noonan syndrome). (4) Conclusions: TAS with a Somatex shunt has a high technical success rate, leading to high neonatal survival rates. Pregnancy and neonatal outcome is comparable to TAS for fetal hydrothorax using different shunt types.

Vesicoamniotic Shunting before 17 + 0 Weeks in Fetuses with Lower Urinary Tract Obstruction (LUTO): Comparison of Somatex vs. Harrison Shunt Systems.

(1) Background: The aim of this study was to compare perinatal outcomes and complication rates of vesicoamniotic shunting (VAS) before 17 + 0 weeks in isolated LUTO (lower urinary tract obstruction) with the Somatex® intrauterine shunt vs. the Harrison fetal bladder shunt. (2) Methods: This is a retrospective cohort study in two tertiary fetal medicine centers. From 2004−2014, the Harrison fetal bladder shunt was used, and from late 2014−2017, the Somatex shunt. Obstetrics and pediatric charts were reviewed for complications, course of pregnancy, perinatal outcome, and postnatal renal function. (3) Results: Twenty-four fetuses underwent VAS with a Harrison (H) shunt and 33 fetuses with a Somatex (S) shunt. Live birth rates and survival to last follow-up were significantly higher in the Somatex group, at 84.8% and 81.8%, respectively, vs. 50% and 33.3% in the Harrison group (p = 0.007 and p < 0.001). The dislocation rate in the Somatex group (36.4%) was significantly lower than in the Harrison group (87.5%) (p < 0.001). The median time to dislocation was significantly different, at 20.6 days (H) vs. 73.9 days (S) (p = 0.002), as was gestational age at dislocation (17 (H) vs. 25 (S) weeks, p < 0.001). Renal function was normal in early childhood in 51% (S) vs. 29% (H) (p = 0.11). (4) Conclusions: VAS before 17 + 0 weeks gestational age with a Somatex shunt improves perinatal survival significantly and might even have a positive effect on renal function, probably due to the lower dislocation rates. A normal amount of amniotic fluid in the third trimester was the best predictor of normal renal function in early childhood.

Outcome of Monochorionic Pregnancies after Selective Feticide with Bipolar Cord Coagulation: A German Single Center Experience.

OBJECTIVES: To review the outcome of complicated monochorionic pregnancies after fetoscopic selective feticide with bipolar cord coagulation in an experienced German center. METHODS: All cases that underwent selective feticide using fetoscopic bipolar umbilical cord occlusion (and simultaneous dissection in monoamniotics) at the University of Bonn in the past 10 years were retrospectively analyzed for antenatal and neonatal course and outcome. An adverse outcome was defined as either intrauterine death (IUD), neonatal death (NND), preterm prelabour rupture of membranes (PPROM), or preterm delivery (PTD) before 32.0 weeks of gestation. RESULTS: We diagnosed 56 monochorionic pregnancies, including 43 diamniotic and 8 monoamniotic twins, as well as 5 triplets, complicated by discordant fetal anomalies (n = 10), selective intrauterine growth restriction (n = 29), twin-to-twin transfusion syndrome (n = 13), twin reversed arterial perfusion sequence (n = 3), or severe early twin anemia polycythemia sequence (n = 1), that underwent fetoscopic selective feticide in the 10 years study period. Selective feticide was performed by bipolar cord coagulation at a median gestational age of 21.2 weeks. PPROM occurred in 11 cases, 7 (12.5%) before 32.0 weeks and 4 (7.1%) between 34.0 and 36.0 weeks, respectively. There were five (8.9%) co-twins IUDs at a median of 2 weeks after the intervention. We observed 12 (21.4%) PTDs before 32.0 weeks of gestation and 2 (3.6%) NNDs. Mean gestational age at delivery was 37.1 weeks, with an overall survival of the co-twin of 87.5%. CONCLUSION: In experienced hands, fetoscopic selective feticide is an effective treatment in complicated monochorionic pregnancies. By sacrificing a sick fetus that jeopardizes the entire pregnancy, a higher survival rate of the co-twin can be achieved.

Prenatal Diagnosis and Outcome of Scimitar Syndrome: A Case Series of Six Patients.

Scimitar syndrome is a rare disease characterized by hypoplasia of the right lung and partial anomalous pulmonary venous drainage to the inferior vena cava. All cases with a prenatal diagnosis of scimitar syndrome with or without associated malformations in an 18-year period (2000-2018) in two large tertiary referral centers (University of Bonn and University of Cologne, Germany) were retrospectively reviewed for the intrauterine course and postnatal outcome. Six cases were diagnosed in the study period. All presented with hypoplasia of the right lung, right-sided mediastinal shift, and abnormal pulmonary venous drainage to the inferior vena cava. Systemic arterial blood supply to the right lung, albeit postnatally present in all cases, could not be detected prenatally. Major associated anomalies were present in all cases and included atrial septal defect (n = 5), coarctation (n = 3), diaphragmatic hernia (n = 2), and VACTERL association (n = 1). Half of the cohort died within 6 months after birth and all three survivors suffer from long-term pulmonary sequelae. The primary hint to the prenatal diagnosis of scimitar syndrome is the abnormal position of the heart in the chest. If searched for, abnormal venous drainage can be identified prenatally and confirms the diagnosis. The prognosis depends on the presence of associated major anomalies and the need for neonatal intervention.

Outcome of TRAP Sequence Treated in the First Trimester - A Ten-Year Single-Center Experience.

PURPOSE: To evaluate the outcome of first trimester intervention by intrafetal laser (IFL) in pregnancies complicated by twin reversed arterial perfusion (TRAP). MATERIALS AND METHODS: For a 10-year study period, all patients with TRAP diagnosed < 14.0 weeks of gestation were retrospectively analyzed for intrauterine course and outcome. Monoamniotic pregnancies were excluded. Patients were offered either intervention by IFL in the first trimester, expectant management, or termination of pregnancy (TOP). Adverse outcome was defined as either intrauterine death (IUD), neonatal death, or preterm birth. RESULTS: In 45 cases TRAP was diagnosed. 17 monoamniotics were excluded. The cohort was divided into two groups according to management. Group A: 24 cases underwent IFL and group B: 4 cases were managed expectantly. No patient opted for TOP. In group A, 70.8 % of pump twins were born alive, including one preterm delivery, and 29.2 % died within four days after the intervention. All 4 expectantly managed cases in group B had an adverse outcome (1 preterm delivery, 3 IUDs < 15.0 weeks). There were no neonatal deaths. In cases treated by IFL, a comparison of survivors and non-survivors identified no significant differences in gestational age at IFL or any of the assessed biometrical and functional parameters. There was a trend towards better outcome in the second half of the study period. CONCLUSION: IFL in first trimester TRAP sequence is technically feasible but is associated with significant mortality, albeit less than previously reported. No risk stratification is possible using the investigated parameters. However, there seems to be a learning curve.

Outcome of Monochorionic Monoamniotic Twin Reversed Arterial Perfusion Sequence Diagnosed in the First Trimester.

INTRODUCTION: The aim of this study is to evaluate the outcome of pregnancies complicated by monochorionic monoamniotic twin reversed arterial perfusion sequence (MOMA TRAP) diagnosed in the first trimester. METHODS: All patients diagnosed with MOMA TRAP sequence <14.0 weeks of gestation in a 10-year study period were retrospectively analyzed for intrauterine course and outcome. All patients were offered either expectant management or intrauterine intervention. Adverse outcome was defined as either intrauterine death (IUD), neonatal death or preterm birth <34.0 weeks of gestation. RESULTS: In the study period, 17 cases with MOMA TRAP sequence were diagnosed. Of these, 2 couples opted for termination of pregnancy. The remaining 15 were divided into 2 groups depending on the management: group A (n = 8) with expectant management and group B (n = 7) with intrauterine intervention. All fetuses in group A died before 20 weeks. Survival in group B was significantly better with 4/7 (57.1%) life births at a median of 39.6 weeks of gestation (p = 0.0256). The reasons for IUD in the 3 cases in group B were hemodynamic, strangulation, and bleeding complications during intervention. CONCLUSIONS: Intrauterine intervention in MOMA TRAP pregnancies significantly improves neonatal survival, although it is still associated with a substantial risk for IUD by hemodynamic complications or entanglement.

Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect.

PURPOSE: To assess the intrauterine course, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD). METHODS: All cases of PAVSD diagnosed prenatally over a period of 10 years with a minimum follow-up of 6.5 years were retrospectively collected in 3 tertiary referral centers. RESULTS: 50 cases of PAVSD were diagnosed prenatally. 44.0 % of fetuses had isolated PAVSD, 4.0 % had associated cardiac anomalies, 10.0 % had extra-cardiac anomalies, 38.0 % had chromosomal anomalies, 4.0 % had non-chromosomal syndromes. Among the 32 liveborn children, 56.3 % had reverse flow in the patent arterial duct, 25.0 % had major aortopulmonary collateral arteries (MAPCAs) with ductal agenesis and 18.7 % had a double supply. 17 pregnancies were terminated (34.0 %), there was 1 intrauterine fetal death (2.0 %), 1 neonatal death (2.0 %), and 6 deaths (12.0 %) in infancy. 25 of 30 (83.3 %) liveborn children with an intention to treat were alive at the latest follow-up. The mean follow-up among survivors was 10.0 years (range 6.5-15.1). 56.0 % of infants underwent staged repair, 44.0 % had one-stage complete repair. After exclusion of infants with additional chromosomal or syndromal anomalies, 88.9 % were healthy, and 11.1 % had mild limitations. The presence of MAPCAs did not differ significantly between survivors and non-survivors (p = 0.360), between one-stage or staged repair (p = 0.656) and healthy and impaired infants (p = 0.319). CONCLUSION: The prognosis in cases without chromosomal or syndromal anomalies is good. MAPCAs did not influence prognosis or postoperative health. The incidence of repeat interventions due to recurrent stenoses is significantly higher after staged compared with single-stage repair.

Fetal Cardiac Intervention in Critical Aortic Stenosis with Severe Mitral Regurgitation, Severe Left Atrial Enlargement, and Restrictive Foramen Ovale.

OBJECTIVE: To assess the intrauterine course and outcome of fetal cardiac intervention (FCI) in fetuses with critical aortic stenosis (CAS), severe mitral regurgitation (MR), severe left atrial dilatation (LAD), and restrictive foramen ovale (RFO) or intact atrial septum. METHODS: All fetuses with a prenatal diagnosis of CAS, severe MR, severe LAD, and RFO were retrospectively collected in one tertiary center for fetal medicine over a period of 10 years. Video recordings, pre- and postnatal charts were reviewed for cardiac and extracardiac anomalies, intrauterine course, and postnatal outcome. RESULTS: Nineteen fetuses with CAS, severe MR, severe LAD, and RFO were diagnosed in the study period. In 5 cases, FCI was not considered as the parents either opted for expectative management or for termination. In the remaining 14 fetuses, 21 FCI were performed: 14 balloon valvuloplasties, 2 atrioseptostomies, and 5 fetal atrial stent insertions. Seven of 14 fetuses (50%) had fetal hydrops, 5 of 14 fetuses (36%) presented with intact atrial septum. Procedure-related death occurred in 5 fetuses after aortic valvuloplasty or concomitant atrioseptostomy but in none after fetal atrial stenting. Due to progressive hydrops, two terminations of pregnancy were performed. Among the 7 live births, 3 died in the neonatal period. The remaining 4 received single ventricle palliation, 2 following fetal aortic valvuloplasty and 2 after fetal atrial stent insertion. CONCLUSIONS: CAS with severe MR, severe LAD, and RFO has a high overall mortality even in cases undergoing intrauterine intervention. Parameters that accurately predict the intrauterine and postnatal outcome have yet to be defined.

Severe Pulmonary Stenosis or Atresia with Intact Ventricular Septum in the Fetus: The Natural History.

PURPOSE: To assess the intrauterine course, the outcome, and to establish a new prenatal echocardiographic scoring system to predict biventricular (BV) versus univentricular (UV) outcome of fetuses with severe pulmonary stenosis or atresia with intact ventricular septum (PSAIVS). METHODS: All cases of PSAIVS diagnosed prenatally over a period of 14years were retrospectively collected in 2 tertiary referral centers. RESULTS: Forty-nine fetuses with PSIVS (n = 11) or PAIVS (n = 38) were identified prenatally. Nineteen (38.8%) fetuses had additional ventriculocoronary connections (VCCs) and 21 (42.9%) fetuses had right ventricular hypoplasia. Four (8.2%) pregnancies were terminated, 2 (4.1%) ended in intrauterine fetal death, 4 (8.2%) in neonatal death, and 5 (10.2%) children died in infancy or childhood, including one case with compassionate care. Thirty-four of 44 (77.3%) fetuses with the intention-to-treat were alive at latest follow-up, 25 (73.5%) with BV, and 9 (26.5%) with UV circulation. Most significant predictive markers of UV circulation were Vmax of tricuspid regurgitation (TR) <2 m/s, right ventricle/left ventricle length ratio ≤0.6, and presence of VCC. A scoring system including these 3 markers had 100% sensitivity and 100% specificity predicting an UV outcome if more than one of these criteria was fulfilled. All 25 liveborn infants that were suitable for BV repair survived, whereas only 9 out of 14 candidates for UV repair survived. None of the 14 fetuses with predicted UV outcome would have met the inclusion criteria for fetal intervention, as 10 of them had VCC and the remaining 4 had absent TR or Vmax <2 m/s. CONCLUSION: The prognosis of prenatally diagnosed PSAIVS is good if BV circulation can be achieved, while postnatal mortality in UV circulation is high within the first 4 months of life. Postnatal outcome can be predicted prenatally with high accuracy using a simple scoring system. This information is mandatory for parental counseling and may be useful in selecting fetuses for intrauterine valvuloplasty.

Doppler Indices and Notching Assessment of Uterine Artery Between the 19th and 22nd Week of Pregnancy in the Prediction of Pregnancy Outcome.

BACKGROUND/AIM: The aim of this study was to determine the value of Doppler indices and notching assessment of uterine artery between the 19th and 22nd week of gestation in the prediction of pregnancy outcome such as delivery mode, birth weight, Apgar score, afterbirth pH, fetal presentation, preeclampsia and fetal growth restriction in singleton pregnancy. PATIENTS AND METHODS: This is a retrospective cohort study of Doppler ultrasound of the uterine arteries at 19-22 week of gestation in 1,472 women with singleton pregnancies. RESULTS: Patients with bilateral high resistance-index (RI) and pulsatility-index (RI) or with the presence of a notch showed a significantly higher prevalence of small for gestational age (SGA) fetuses and intrauterine growth restriction (IUGR), low Apgar Scores at the 1st and the 5th min, high c-section rate, preterm birth, breech birth, placental insufficiency and placental abruption. The presence of a notch significantly increased the prevalence of severe preeclampsia, HELLP-syndrome and oligohydramnios. Also, patients with a bilateral uterine notching had a higher c-section rate along with higher prevalence of SGA and IUGR at screening time. CONCLUSION: Uterine artery Doppler waveform analysis as well as the assessment of the presence of a notch in the second trimester can be used as a screening method to identify women who will thereafter develop a severe adverse outcome.

Correlation of Cerebroplacental Ratio (CPR) With Adverse Perinatal Outcome in Singleton Pregnancies.

BACKGROUND/AIM: For many years clinical research has been concerned with doppler sonography as a non-invasive tool for intrauterine fetal status assessment. A new focus is now placed on the measurement of cerebroplacental index (CPR) as a predictor of fetal outcome. Our aim was to investigate the relationship between the cerebroplacental ratio (CPR), the delivery mode and the fetal outcome in singleton pregnancies. PATIENTS AND METHODS: A retrospective cohort study of pregnancies in which doppler sonography of middle cerebral artery (MCA) and umbilical artery (UA) was conducted up to 9 weeks before delivery took place. Patients with pathological (CPR≤1.0) and normal CPR (>1.0) were compared by umbilical cord pH, APGAR scores, birth weight, delivery week and delivery mode. RESULTS: A total of 2,270 singleton pregnancies were included. The APGAR score for 1, 5 and 10 minutes and the gestational age at delivery were significantly lower in the group of patients with pathological CPR (p<0.001). Overall, 50% of the cohort had a cesarean section, the difference between the groups was statistically significant (p<0.001), with a higher amount of cesareans in the group of patients with pathological CPR. The multiple regression analysis showed a significantly improved pH of delivery when cesarean section (p<0.001), female sex of fetus (p=0.013) and higher CPR (p=0.035) were present. CONCLUSION: The measurement of CPR is an important, non-invasive predictive parameter and leads to the identification of a risk collective even in the non-selected patient population and thus probably to a reduction of perinatal morbidity.

Isolated bladder exstrophy in prenatal diagnosis.

PURPOSE: Isolated classic bladder exstrophy (CBE) is the most common variant of the bladder-exstrophy-epispadias complex (BEEC). The BEEC represents a spectrum ranging from isolated epispadias over CBE to the most severe form, cloacal exstrophy. We report on a series of 12 cases with CBE diagnosed prenatally and illustrate the spectrum of prenatal ultrasound findings with comparison to prior published reports on this entity. METHODS: This was a retrospective study involving 12 fetuses with CBE at two large tertiary referral centers in Germany over a 14-year period (2004-2018). RESULTS: Median diagnosis was made with ultrasound in 24 + 5 (IQR25,75: 21 + 2, 29 + 0) weeks of gestation. All fetuses presented with the pathognomonic findings non-visualization of the fetal bladder and protruding abdominal mass below the umbilical cord insertion. All fetuses showed normal kidney anatomy and normal amniotic fluid throughout pregnancy. Epispadia was visible prenatally on ultrasound in 6/8 male fetuses. 1/12 Parents opted for termination of pregnancy, 11/12 fetuses were live born and received reconstructive surgery. CONCLUSIONS: Isolated CBE is an extremely rare prenatal sonographic finding. Prenatal diagnostics should exclude additional malformations within the spectrum of cloacal malformations.