Neonatal Survival After Serial Amnioinfusions for Bilateral Renal Agenesis: The Renal Anhydramnios Fetal Therapy Trial.

Importance: Early anhydramnios during pregnancy, resulting from fetal bilateral renal agenesis, causes lethal pulmonary hypoplasia in neonates. Restoring amniotic fluid via serial amnioinfusions may promote lung development, enabling survival. Objective: To assess neonatal outcomes of serial amnioinfusions initiated before 26 weeks' gestation to mitigate lethal pulmonary hypoplasia. Design, Setting, and Participants: Prospective, nonrandomized clinical trial conducted at 9 US fetal therapy centers between December 2018 and July 2022. Outcomes are reported for 21 maternal-fetal pairs with confirmed anhydramnios due to isolated fetal bilateral renal agenesis without other identified congenital anomalies. Exposure: Enrolled participants initiated ultrasound-guided percutaneous amnioinfusions of isotonic fluid before 26 weeks' gestation, with frequency of infusions individualized to maintain normal amniotic fluid levels for gestational age. Main Outcomes and Measures: The primary end point was postnatal infant survival to 14 days of life or longer with dialysis access placement. Results: The trial was stopped early based on an interim analysis of 18 maternal-fetal pairs given concern about neonatal morbidity and mortality beyond the primary end point despite demonstration of the efficacy of the intervention. There were 17 live births (94%), with a median gestational age at delivery of 32 weeks, 4 days (IQR, 32-34 weeks). All participants delivered prior to 37 weeks' gestation. The primary outcome was achieved in 14 (82%) of 17 live-born infants (95% CI, 44%-99%). Factors associated with survival to the primary outcome included a higher number of amnioinfusions (P = .01), gestational age greater than 32 weeks (P = .005), and higher birth weight (P = .03). Only 6 (35%) of the 17 neonates born alive survived to hospital discharge while receiving peritoneal dialysis at a median age of 24 weeks of life (range, 12-32 weeks). Conclusions and Relevance: Serial amnioinfusions mitigated lethal pulmonary hypoplasia but were associated with preterm delivery. The lower rate of survival to discharge highlights the additional mortality burden independent of lung function. Additional long-term data are needed to fully characterize the outcomes in surviving neonates and assess the morbidity and mortality burden. Trial Registration: ClinicalTrials.gov Identifier: NCT03101891.

Sobrevida de los recién nacidos con cardiopatías congénitas diagnosticadas prenatalmente / Survival of newborns with prenatally diagnosed congenital heart disease

Objetivo: Estimar la sobrevida al año de los recién nacidos con cardiopatías congénitas diagnosticadas prenatalmente y el perfil epidemiológico de sus madres. Método: Cohorte dinámica retrospectiva de 825 pacientes, ingresados entre el 1 de abril de 2003 y el 31 de marzo de 2019, con tiempo de seguimiento de 1 año, que se elaboró utilizando la base de datos del Centro de Referencia Perinatal Oriente (CERPO), Facultad de Medicina, Universidad de Chile. Resultados: Se estimó la función de supervivencia global de la muestra, obteniendo una supervivencia del 70% al año de seguimiento (error estándar (ES): 0,0164; intervalo de confianza del 95% [IC95%]: 0,66-0,73). Los recién nacidos con edad gestacional < 30 semanas tuvieron una menor sobrevida (hazard ratio [HR]: 4,17; IC95%: 1,52-11.44; p < 0,01). Los recién nacidos con un peso < 3000 g tuvieron una menor sobrevida (HR: 1,41; IC95%: 1,09-1,84; p < 0,01). La distribución de las cardiopatías congénitas según la gravedad en esta cohorte fue: riesgo vital 64%, clínicamente relevante 34% y clínicamente no relevante 2%. La menor sobrevida fue para la categoría riesgo vital (HR: 6,005; IC95%: 3,97-9,08; p < 0,01). Conclusiones: La prematuridad, el bajo peso al nacer y la gravedad de la cardiopatía se correlacionaron con una menor sobrevida.

Objective: To estimate the survival at one year of newborns with prenatally diagnosed congenital heart diseases and the epidemiological profile of their mothers. Method: Dynamic retrospective cohort of 825 patients, admitted between April 1, 2003 and March 31, 2019, with a follow-up time of 1 year, which was elaborated using the database of the Centro de Referencia Perinatal Oriente (CERPO), Faculty of Medicine, Universidad de Chile. Results: The overall survival function of the sample was estimated, resulting in a survival of 70% at one year follow-up (standard error (SE): 0.0164; 95% confidence interval [95% CI]: 0.66-0.73). Newborns with gestational age < 30 weeks had a lower survival (hazard ratio [HR]: 4.17; 95% CI: 1.52-11.44; p < 0.01). Newborns with a birth weight < 3000 g had a lower survival (HR: 1.41; 95% CI: 1.09-1.84; p < 0.01). The distribution of congenital heart disease according to severity in this cohort was: life-threatening 64%, clinically relevant 34% and clinically not relevant 2%. With a lower survival for the life-threatening category (HR: 6.005; 95% CI: 3.97-9.08; p < 0.01). Conclusions: Prematurity, low birth weight and severity of congenital heart correlated with a lower survival rate.

Etiology and Outcome of Isolated Fetal Ascites: A Systematic Review.

OBJECTIVE: To describe the etiology of isolated fetal ascites and associated perinatal outcomes, and to assess the progression of isolated fetal ascites to fetal hydrops. DATA SOURCES: PubMed, Cochrane Library, Scopus, and ClinicalTrials.gov databases were searched using the following keywords: "fetus" OR "foetal" OR "fetal" OR "foetus" AND "ascites" from inception to February 2020. The search was limited to the English language. METHODS OF STUDY SELECTION: A total of 1,983 articles were identified through the search strategy. All studies containing five or more cases of isolated fetal ascites were included. TABULATION, INTEGRATION, AND RESULTS: Eleven studies, involving 315 cases of isolated fetal ascites, were eligible for inclusion in this systematic review. All included studies were evaluated using the tool for evaluating the methodologic quality of case reports and case series described by Murad et al. Data were summarized using narrative review and descriptive statistics. Two-tailed Fisher exact P values calculated from hypergeometric distribution were used to compare outcome by etiology. CIs were calculated with Clopper-Pearson exact binomial interval. The etiologies of isolated fetal ascites are genitourinary (24%), gastrointestinal (20%), viral or bacterial infections (9%), cardiac (9%), genetic disorders not otherwise categorized (8%), chylous ascites (6%), metabolic storage disorders (3%), other structural disorders (4%), other causes (4%) and idiopathic (13%). Survival is most favorable for cases of isolated fetal ascites as a result of chylous (100%), idiopathic (90%), gastrointestinal (77%) and genitourinary (77%) etiologies. Survival is least favorable for fetuses with isolated fetal ascites as a result of structural disorders (25%), cardiac etiology (32%) and metabolic storage disorders (33.3%). When pregnancy terminations were excluded, survival rates were similar between fetuses diagnosed at or after 24 weeks of gestation compared with those diagnosed at less than 24 weeks (74% vs 61%, P=.06). Progression of fetal ascites to fetal hydrops occurred in 6.6% (95% CI 3.6-9.6%) (17/259) of cases when pregnancies that were terminated were excluded. CONCLUSION: Isolated fetal ascites has a diverse etiology. Outcome is related to the etiology of isolated fetal ascites. In the majority of cases, fetal ascites does not progress to fetal hydrops. SYSTEMATIC REVIEW REGISTRATION: PROSPERO, CRD42020213930.

Intrapulmonary artery Doppler to predict mortality and morbidity in fetuses with mild or moderate left-sided congenital diaphragmatic hernia.

OBJECTIVES: In fetuses with isolated left-sided congenital diaphragmatic hernia (LCDH), prenatal detection of severe pulmonary hypoplasia is important, as fetal therapy can improve survival. Cases with mild or moderate lung hypoplasia still carry a considerable risk of mortality and morbidity, but there has been less interest in the accurate prediction of outcome in these cases. In this study of fetuses with mild or moderate isolated LCDH, we aimed to investigate: (1) the association between intrapulmonary artery (IPA) Doppler findings and mortality at discharge; (2) whether adding IPA Doppler findings improves the prediction of mortality based on lung size and liver herniation; and (3) the association between IPA Doppler findings and early neonatal morbidity. METHODS: This was a retrospective study of all consecutive fetuses assessed at the BCNatal and UZ Leuven hospitals between 2008 and 2020 with a prenatal diagnosis of isolated, non-severe LCDH, defined as observed-to-expected lung-to-head ratio (o/e-LHR) > 25%, that were managed expectantly during pregnancy followed by standardized neonatal management. An additional inclusion criterion was the availability of IPA Doppler measurements. The primary outcome was the association between IPA Doppler findings and mortality at discharge. Other predictors included o/e-LHR, liver herniation and gestational age at birth. Secondary outcomes were the association between IPA Doppler findings and the presence of pulmonary hypertension (PHT), need for supplemental oxygen at discharge and need for extracorporeal membrane oxygenation. IPA pulsatility index (PI) values were converted into Z-scores. Logistic regression analysis was performed to investigate the associations between predictor variables and outcome, and the best model was chosen based on the Nagelkerke R2 . RESULTS: Observations for 70 non-severe LCDH cases were available. Fifty-four (77%) fetuses survived until discharge. On logistic regression analysis, higher IPA-PI was associated with an increased risk of mortality (odds ratio (OR), 3.96 (95% CI, 1.62-9.70)), independently of o/e-LHR (OR, 0.87 (95% CI, 0.79-0.97)). An IPA-PI Z-score cut-off of 1.8 predicted mortality with a detection rate of 69% and specificity of 93%. Adding IPA-PI to o/e-LHR improved significantly the model's performance (Nagelkerke R2 , 46% for o/e-LHR + IPA-PI vs 28% for o/e-LHR (P < 0.002)), with a detection rate of 81% at a 10% false-positive rate. IPA-PI was associated with PHT (OR, 2.20 (95% CI, 1.01-4.59)) and need for oxygen supplementation at discharge (OR, 1.90 (95% CI, 1.10-3.40)), independently of lung size. CONCLUSIONS: In fetuses with mild or moderate LCDH, IPA-PI was associated with mortality and morbidity, independently of lung size. A model combining o/e-LHR with IPA-PI identified up to four in five cases that eventually died, despite being considered to have non-severe pulmonary hypoplasia. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Role of prenatal imaging in the diagnosis and management of fetal facio-cervical masses.

Congenital facio-cervical masses can be a developmental anomaly of cystic, solid, or vascular origin, and have an inseparable relationship with adverse prognosis. This retrospective cross-sectional study aimed at determining on the prenatal diagnosis of congenital facio-cervical masses, its management and outcome in a large tertiary referral center. We collected information on prenatal clinical data, pregnancy outcomes, survival information, and final diagnosis. Out of 130 cases of facio-cervical masses, a total of 119 cases of lymphatic malformations (LMs), 2 cases of teratoma, 2 cases of thyroglossal duct cyst, 4 cases of hemangioma, 1 case of congenital epulis, and 2 cases of dermoid cyst were reviewed. The accuracy of prenatal ultrasound was 93.85% (122/130). Observations of diameters using prenatal ultrasound revealed that the bigger the initial diameter is, the bigger the relative change during pregnancy. Magnetic resonance imaging (MRI) revealed that 2 cases of masses were associated with airway compression. In conclusion, ultrasound has a high overall diagnostic accuracy of fetal face and neck deformities. Prenatal US can enhance the management of ambulatory monitoring and classification. Furthermore, MRI provided a detailed assessment of fetal congenital malformations, as well as visualization of the trachea, presenting a multi-dimensional anatomical relationship.

Perinatal outcome of pregnancy complicated by twin anemia-polycythemia sequence: systematic review and meta-analysis.

OBJECTIVE: To report the perinatal outcome of monochorionic diamniotic (MCDA) twin pregnancies complicated by twin anemia-polycythemia sequence (TAPS), according to the type of TAPS (spontaneous or postlaser) and the management option adopted. METHODS: MEDLINE, EMBASE and The Cochrane Library databases were searched for studies reporting on the outcome of twin pregnancies complicated by TAPS. Inclusion criteria were non-anomalous MCDA twin pregnancies with a diagnosis of TAPS. The primary outcome was perinatal mortality; secondary outcomes were neonatal morbidity and preterm birth (PTB). The outcomes were stratified according to the type of TAPS (spontaneous or following laser treatment for twin-twin transfusion syndrome) and the management option adopted (expectant, laser surgery, intrauterine transfusion (IUT) or selective reduction (SR)). Random-effects meta-analysis of proportions was used to analyze the data. RESULTS: Perinatal outcome was assessed according to whether TAPS occurred spontaneously or after laser treatment in 506 pregnancies (38 studies). Intrauterine death (IUD) occurred in 5.2% (95% CI, 3.6-7.1%) of twins with spontaneous TAPS and in 10.2% (95% CI, 7.4-13.3%) of those with postlaser TAPS, while the corresponding rates of neonatal death were 4.0% (95% CI, 2.6-5.7%) and 9.2% (95% CI, 6.6-12.3%), respectively. Severe neonatal morbidity occurred in 29.3% (95% CI, 25.6-33.1%) of twins after spontaneous TAPS and in 33.3% (95% CI, 17.4-51.8%) after postlaser TAPS, while the corresponding rates of severe neurological morbidity were 4.0% (95% CI, 3.5-5.7%) and 11.1% (95% CI, 6.2-17.2%), respectively. PTB complicated 86.3% (95% CI, 77.2-93.3%) of pregnancies with spontaneous TAPS and all cases with postlaser TAPS (100% (95% CI, 84.3-100%)). Iatrogenic PTB was more frequent than spontaneous PTB in both groups. Perinatal outcome was assessed according to the management option adopted in 417 pregnancies (21 studies). IUD occurred in 9.8% (95% CI, 4.3-17.1%) of twins managed expectantly and in 13.1% (95% CI, 9.2-17.6%), 12.1% (95% CI, 7.7-17.3%) and 7.6% (95% CI, 1.3-18.5%) of those treated with laser surgery, IUT and SR, respectively. Severe neonatal morbidity affected 27.3% (95% CI, 13.6-43.6%) of twins in the expectant-management group, 28.7% (95% CI, 22.7-35.1%) of those in the laser-surgery group, 38.2% (95% CI, 18.3-60.5%) of those in the IUT group and 23.3% (95% CI, 10.5-39.2%) of those in the SR group. PTB complicated 80.4% (95% CI, 59.8-94.8%), 73.4% (95% CI, 48.1-92.3%), 100% (95% CI, 76.5-100%) and 100% (95% CI, 39.8-100%) of pregnancies after expectant management, laser surgery, IUT and SR, respectively. CONCLUSIONS: The present meta-analysis provides pooled estimates of the risks of perinatal mortality, neonatal morbidity and PTB in twin pregnancies complicated by TAPS, stratified by the type of TAPS and the management option adopted. Although a direct comparison could not be performed, the results from this systematic review suggest that spontaneous TAPS may have a better prognosis than postlaser TAPS. No differences in terms of mortality and morbidity were observed when comparing different management options for TAPS, although these findings should be interpreted with caution in view of the limitations of the included studies. Individualized prenatal management, taking into account the severity of TAPS and gestational age, is currently the recommended strategy. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation.

OBJECTIVES: To evaluate aneuploidy rate, prognostic factors, and perinatal outcomes following a diagnosis of fetal megacystis at 11-14 week's gestation. METHODS: A retrospective study of first trimester fetal megacystis from 2010 to 2020 was performed, including ultrasound finding, perinatal outcomes, pathology reports, genetic tests, and neonatal investigations. RESULTS: A total of 98 cases of first trimester fetal megacystis was identified with an overall aneuploidy rate of 12%. There were 54% live births and 46% fetal losses including spontaneous fetal demise and elective termination. Among the 45 fetal losses, 64% had additional structural abnormalities at index ultrasound and final diagnoses were achievable in 64% cases. Among the 53 livebirths, additional ultrasound abnormalities were detected in only 1 fetus and spontaneous resolution of megacystis was detected in 96% of cases. The two cases where fetal megacystis persisted had major postnatal diagnoses: cloacal malformation and megacystis-microcolon-intestinal hypoperistalsis syndrome, respectively. Our data showed LBD ≥ 12 mm was the best individual predictor of adverse perinatal outcome and all 11 cases of lower urinary tract obstruction (LUTO) were diagnosed in fetuses with LBD ≥ 12 mm. CONCLUSIONS: First trimester ultrasound provides important prognostic factors and isolated megacystis <12 mm is associated with a positive outcome.

Perinatal outcomes and central nervous system abnormalities following intrauterine fetal transfusion: 17 years' experience in a tertiary center.

BACKGROUND: This study aimed to describe the perinatal outcome and central nervous system (CNS) anomalies in fetuses undergoing red blood cell (RBC) intrauterine transfusion (IUT). METHODS AND MATERIALS: This was an observational single-cohort study carried out at Vall d'Hebron University Hospital in Barcelona, Spain, between 2002 and 2018 in women undergoing RBC IUT for suspected fetal anemia. Primary outcomes were adverse perinatal outcome (intrauterine or neonatal death and termination of pregnancy [TOP]), prenatal or postnatal CNS anomalies, and significant neurological impairment. RESULTS: A total of 145 RBC transfusions were performed in 68 pregnancies of 60 women. The median gestational age for the first transfusion was 26 weeks (range, 18-32). Twenty-two (32%) fetuses were hydropic at the first transfusion. Fifty-eight pregnancies (85.3%) resulted in live births and 10 (14.7%) in adverse perinatal outcomes. Adverse perinatal outcomes were associated with hydrops (odds ratio [OR], 6.69; 95% confidence interval [CI], 1.53-29.23; P = .012) and gestational age at first transfusion (OR, 0.69; 95% CI, 0.54-0.89; P = .04). Four (5.9%) cases of cerebellar hemorrhage were diagnosed prenatally. In 14 (35%) of the 41 neonates undergoing brain ultrasound and/or magnetic resonance imaging (MRI) abnormalities were reported. The median follow-up was 6.5 years (range, 3 months to 19 years). Significant neurological impairment was reported in two cases (4.2%). CONCLUSION: In fetuses undergoing intrauterine RBC transfusion, the survival rate is high, particularly in the absence of hydrops and if the gestational age at first transfusion is above 22 weeks. Significant neurological impairment is uncommon, despite the fact that postnatal CNS anomalies at ultrasound or MRI are frequent.

Zika virus infection in pregnancy and adverse fetal outcomes in São Paulo State, Brazil: a prospective cohort study.

Robust epidemiological and biological evidence supports a causal link between prenatal Zika Virus (ZIKV) infection and congenital brain abnormalities including microcephaly. However, it remains uncertain if ZIKV infection in pregnancy also increases the risk for other adverse fetal and birth outcomes. In a prospective cohort study we investigated the influence of ZIKV on the prevalence of prematurity, low birth weight, small-for-gestational-age, and fetal death as well as microcephaly (i.e., overall and disproportionate) in the offspring of women attending a high-risk pregnancy clinic during the recent ZIKV outbreak in Brazil. During the recruitment period (01 March 2016-23 August 2017), urine samples were tested for ZIKV by RT-PCR from all women attending the high-risk pregnancy clinic at Jundiaí University Hospital and from the neonates after delivery. Of the 574 women evaluated, 44 (7.7%) were ZIKV RT-PCR positive during pregnancy. Of the 409 neonates tested, 19 (4.6%) were ZIKV RT-PCR positive in the first 10 days of life. In this cohort, maternal ZIKV exposure was not associated with increased risks of prematurity, low birth weight, small-for-gestational-age, or fetal death. However, relative to ZIKV-negative neonates, ZIKV-positive infants had a five-fold increased risk of microcephaly overall (RR 5.1, 95% CI 1.2-22.5) and a ten-fold increased risk of disproportionate microcephaly (RR 10.3, 95% CI 2.0-52.6). Our findings provide new evidence that, in a high-risk pregnancy cohort, ZIKV RT-PCR positivity in the neonate at birth is strongly associated with microcephaly. However, ZIKV infection during pregnancy does not appear to influence the risks of prematurity, low birth weight, small-for-gestational-age or fetal death in women who already have gestational comorbidities. The results suggest disproportion between neonatal head circumference and weight may be a useful screening indicator for the detection of congenital microcephaly associated with ZIKV infection.

Prenatal ultrasound and magnetic resonance evaluation and fetal outcome in high-risk fetal tumors: A retrospective single-center cohort study over 20 years.

INTRODUCTION: Fetal tumors are rare and usually followed by poor outcome. We describe our single-center experience with fetal tumors evaluated by ultrasound and magnetic resonance imaging (MRI). Our aims were to evaluate mortality and morbidity including long-term outcome and to determine which ultrasound and MRI characteristics were helpful for pre- and perinatal management. MATERIAL AND METHODS: We conducted a retrospective analysis on prenatally diagnosed tumors between 1998 and 2018. Poor outcome included fetal or neonatal death and survival with serious illness. MRI addressed tumor morphology (sacrococcygeal teratomas), compromise of surrounding structures (head and neck tumors) and early depiction of brain alterations specific to tuberous sclerosis (rhabdomyomas). RESULTS: Of 68 pregnancies, 15 (22%) were terminated and eight children (8/53, 15%) died pre- or postnatally. Of the 45 survivors (45/68, 66%), 24 (24/45, 53%) were healthy, eight (8/45, 18%) had a minor illness and 13 (13/45, 29%) a serious illness. Diffusion- and T1-weighted MRI reliably predicted tumor morphology in teratomas. To detect head and neck tumors critical to airway obstruction, MRI was superior to ultrasound in delivery planning. Rhabdomyomas were frequently associated with tuberous sclerosis, regardless of their number or size in ultrasound; MRI could depict specific brain alterations from the early third trimester onwards. For several rare tumors, MRI provided critical differential diagnoses that could not be clearly displayed in ultrasound. CONCLUSIONS: The rate of survivors with serious long-term illness among fetuses with prenatal diagnosis of a tumor was high. MRI is specifically helpful for risk stratification in fetal teratomas and delivery planning in head and neck tumors.

Low mortality in fetal supraventricular tachycardia: Outcomes in a 30-year single-institution experience.

OBJECTIVES: To describe a single institutional experience managing fetuses with supraventricular tachycardia (SVT) and to identify associations between patient characteristics and fetal and postnatal outcomes. BACKGROUND: Sustained fetal SVT is associated with significant morbidity and mortality if untreated, yet the optimal management strategy remains unclear. METHODS: Retrospective cohort study including fetuses diagnosed with sustained SVT (>50% of the diagnostic echocardiogram) between 1985 and 2018. Fetuses with congenital heart disease were excluded. RESULTS: Sustained SVT was diagnosed in 65 fetuses at a median gestational age of 30 weeks (range, 14-37). Atrioventricular re-entrant tachycardia and atrial flutter were the most common diagnoses, seen in 41 and 16 cases, respectively. Moderate/severe ventricular dysfunction was present in 20 fetuses, and hydrops fetalis was present in 13. Of the 57 fetuses initiated on transplacental drug therapy, 47 received digoxin first-line, yet 39 of 57 (68%) required advanced therapy with sotalol, flecainide, or amiodarone. Rate or rhythm control was achieved in 47 of 57 treated fetuses. There were no cases of intrauterine fetal demise. Later gestational age at fetal diagnosis (odds ratio [OR], 1.1, 95% confidence interval [CI], 1.01-1.2, P = .02) and moderate/severe fetal ventricular dysfunction (OR, 6.1, 95% CI, 1.7-21.6, P = .005) were associated with postnatal SVT. Two postnatal deaths occurred. CONCLUSIONS: Fetuses with structurally normal hearts and sustained SVT can be effectively managed with transplacental drug therapy with minimal risk of intrauterine fetal demise. Treatment requires multiple antiarrhythmic agents in over half of cases. Later gestational age at fetal diagnosis and the presence of depressed fetal ventricular function, but not hydrops, predict postnatal arrhythmia burden.

An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum.

BACKGROUND: Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS). OBJECTIVE: The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. METHODS: The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present. RESULTS: The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%, n = 38/39 vs. 68.8%, n = 22/32, P = 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (P < 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC. CONCLUSIONS: Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.

Percutaneous Intratumor Laser Ablation for Fetal Sacrococcygeal Teratoma.

OBJECTIVE: To evaluate the efficiency of percutaneous intratumor laser ablation for fetal solid sacrococcygeal teratoma (SCT). SUBJECTS AND METHODS: We carried out percutaneous ultrasound-guided intratumor laser ablation through a 17-gauge needle using an output of 40 W in 7 fetuses with large solid SCT and reviewed the literature for minimally invasive therapy for this condition. RESULTS: Laser ablation was carried out at a median gestational age of 20 (range 19-23) weeks, and in all cases there was elimination of obvious vascularization within the tumor and improvement in cardiac function. Three (43%) babies survived and had surgical excision of the tumor within 2 days of birth, 3 liveborn babies died within 5 days of birth and before surgery, and 1 fetus died within 2 weeks after the procedure. In previous series of various percutaneous interventions for predominantly solid SCT the survival rate was 33% (2/6) (95% CI 9.7-70%) for endoscopic laser to superficial vessels, 57% (4/7) (95% CI 25-84%) for intratumor laser, 67% (8/12) (95% CI 39-86%) for intratumor radiofrequency ablation, and 20% (1/5) (95% CI 3.6-62%) for intratumor injection of alcohol. CONCLUSIONS: In solid SCT, the reported survival from intratumor laser or radiofrequency ablation is about 50%, but survival does not mean success, and it remains uncertain whether such interventions are beneficial or not because the number of fetuses is small and there were no controls that were managed expectantly.

Antenatal management and outcomes of pregnancies with congenital diaphragmatic hernia.

BACKGROUND: The objective of this study is to evaluate the obstetric outcomes of pregnancies with congenital diaphragmatic hernia (CDH). METHODS: Fifty one pregnancies prenatally diagnosed with CDH at our institution between January 1, 2002 and August 31, 2018 were retrospectively evaluated. The pregnancies were divided into two groups according to neonatal survival. Demographic features, clinical characteristics and prognostic factors were compared between the neonatal survival (n = 16) and non-survival (n = 28) groups. Cut-off values of fetal lung area to head circumference ratio (LHR), observed/expected LHR (o/e LHR) and observed/expected total fetal lung volume (o/e TFLV) for neonatal survival were calculated. RESULTS: Thirty six (70.6%) and fifteen (29.4%) fetuses had left and right sided CDH respectively. Seven patients chose termination of their pregnancies (13.7%). Statistically significant differences were found between survival and non-survival groups in terms of parity, median gestational week at diagnosis, polyhydroamniosis rate, CDH type, stomach position, liver position, median LHR, o/e LHR, o/e TFLV, median 5th minute Apgar score and neonatal operation rate values (p values were 0.03,<0.001, 0.02, 0.006,<0.001, 0.006,<0.001,<0.001,<0.001, 0.04 and <0.001 respectively). According to ROC curve analysis, 1.05 (82% sensitivity, 74% specificity) for LHR, 22.5 (78.6% sensitivity, 73.9% specifity) for o/e LHR and 23.5 (85.7% sensitivity,74.2% specificity) for o/e TFLV were determined to be cut-offs for neonatal survival, respectively, with highest sensitivity and specificity. CONCLUSION: Earlier gestational week at diagnosis, right sided CDH, presence of liver herniation, supradiaphragmatic stomach position, lower LHR, o/e LHR and o/e TFLV were associated with decreased rates of neonatal survival.

Fetal, neonatal, and infant death in central China (Hubei): A 16-year retrospective study of forensic autopsy cases.

Data based on forensic autopsy in neonates and infants in China are rare in the literature. The purpose of this study is to evaluate the characteristics of fetal, neonatal, and infant death and to determine the main cause of death among them.A retrospective analysis of fetal and infant forensic autopsies referred to the Tongji Forensic Medical Center (TFMC) in Hubei, central China, during a 16-year period between January 1999 and December 2014, was performed.In this period, there were 1111 males and 543 females; the total male-to-female ratio (MFR) was 2.05:1. There were 173 fetal and infant autopsies conducted, comprised of 43 fetal, 84 neonatal (<28 days) and 46 infant (4 weeks to 1 year) cases. The annual case number ranged from 5 in 2004 to 18 in 2014 (annual mean of 10.8). MFR was 1.75:1. About 94% of these deaths (163/173) resulted from natural causes, 6 cases (3.5%) were accidental deaths, and 4 (2.3%) resulted from homicide (4 abandoned babies). Among fetuses, the most common causes of death were placental and umbilical cord pathologies (28%, 12/43), followed by intrapartum asphyxia resulting from amniotic fluid aspiration (AFA) or meconium aspiration syndrome (MAS) (18.6%, 8/43), congenital malformation (14%, 6/43), and intrapartum infection (9.3%, 4/43). A majority of neonatal deaths (66.7%, 56/84) died within 24 hours of birth. The main causes of neonatal death were asphyxia resulting from AFA, MAS, or hyaline membrane disease, and congenital malformation. The main causes of infant (1-12 months) death were infectious diseases, including pneumonia, meningitis, and viral brainstem encephalitis.This study was the 1st retrospective analysis of autopsies of fetal, neonatal, and infant death in TFMC and central China. We delineate the common causes of early demise among cases referred for autopsy, and report a male preponderance in this population. Our data observed that placental and/or umbilical cord pathology, asphyxia due to AFA, and/or MAS, and pneumonia were the leading causes of fetal, neonatal, and infant death, respectively. And it can inform clinical practitioners about the underlying causes of some of the most distressing cases in their practices.

Cervical lymphatic malformations: Prenatal characteristics and ex utero intrapartum treatment.

BACKGROUND: The ex utero intrapartum treatment (EXIT) is utilized to transition fetuses with prenatally diagnosed airway obstruction to postnatal life. We describe the unique clinical course, diagnosis, treatment, and outcomes of patients with cervical lymphatic malformation (CLM) managed with EXIT. METHODS: Review of fetuses with diagnosed CLM was delivered by EXIT (2001-2018) in a tertiary referral fetal center. Outcomes included survival, tracheostomy at discharge, neonatal course after delivery, and pulmonary hypoplasia. Data are reported as median [range] and rate (%). RESULTS: Out of 45 patients delivered by EXIT, 10 were delivered for CLM: seven had polyhydramnios, one had nonimmune hydrops, five delivered preterm, and three were emergency EXITs. The EXIT time and estimated blood loss were 125 minutes (95, 158) and 900 mL (500, 1500), respectively. Airway was secured in all. There was one neonatal death (day 8) with prematurity, sepsis, and pulmonary hypoplasia. Three out of nine were discharged with a tracheostomy. CONCLUSION: In CLM, close monitoring for structural neck involvement and development of polyhydramnios are important and may be an indication for EXIT as the optimal delivery mode. An experienced multidisciplinary team is a key factor for an effective approach to the obstructed airway in CLM.

Compassion and Community in Perinatal Palliative Care: Understanding the Necessity of the Patient Perspective Through Narrative Illustration.

Advancing technology in reproductive medicine has led to more frequent perinatal diagnoses of fatal or life-limiting anomaly. For those parents who choose to continue pregnancies while facing such a diagnosis, compassionate and communal perinatal palliative care provides beneficial physical and psycho-socio-emotional support for these families, so that they may preserve and acknowledge the relationship with their child, no matter how brief his/her life.

Fetal primary pleural effusions: Prenatal diagnosis and management.

Fetal pleural effusions can be associated with significant perinatal morbidity and mortality. When diagnosed antenatally, referral to a tertiary fetal medicine center is recommended for a detailed ultrasound evaluation for additional structural abnormalities or features suggestive of congenital infections or fetal anemia. The effusions should be characterized as unilateral or bilateral, and presence of hydrops and/or mediastinal shift should be documented. Additional testing should include fetal echocardiography, maternal testing for blood group and screen, hemoglobinopathies, and congenital infections. Invasive genetic testing is recommended with infectious testing on amniotic or pleural fluid. Pleuroamniotic shunting is recommended for large primary pleural effusions with significant mediastinal shift or hydrops, as several large series have demonstrated improvement in perinatal survival, particularly in hydropic fetuses. Delivery should occur in a tertiary care center with neonatal expertise, and infants should be followed up long-term for respiratory and neurodevelopmental outcomes.

Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally.

OBJECTIVE: To estimate the prevalence of specific neurodevelopmental disorders in children believed to have isolated mild ventriculomegaly (IMV) prenatally in the second trimester of pregnancy, in order to optimize the counseling process. METHODS: This was a nationwide registry-based study including all singleton pregnancies that had first- and second-trimester ultrasound scans in the period 1st January 2008 to 1st October 2014, identified in the Danish Fetal Medicine Database and local clinical databases in Denmark. All fetuses diagnosed prenatally with IMV (measurement of the atrium of the lateral ventricles, 10.0-15.0 mm) between 18 and 22 weeks' gestation were followed up in national patient registers until the age of 2-7 years. Information was obtained on the diagnoses of intellectual disability, cerebral palsy, autism spectrum disorder, epilepsy and impaired psychomotor development. Neurodevelopmental disorders were compared between those with postnatally confirmed IMV and a reference population of children in the same age range. RESULTS: Of a cohort of 292 046 fetuses, 133 were found to have apparent IMV on the second-trimester scan for fetal malformations. In 11 cases, long-term follow-up was not possible owing to termination of pregnancy, spontaneous miscarriage, neonatal death or loss to follow-up. Of the 122 liveborn children followed up until 2-7 years, 15 were identified as having an additional abnormality while 107 were confirmed postnatally to have IMV. Of these 107 children, the diagnosis of a neurodevelopmental disorder was registered in six (5.6%), corresponding to an odds ratio of 2.64 (95% CI, 1.16-6.02), as compared with the reference population. The diagnoses were autism spectrum disorder, epilepsy and impaired psychomotor development. None of these 107 children was diagnosed with intellectual disability or cerebral palsy. CONCLUSIONS: Our results show that a confirmed diagnosis of IMV was associated with an increased risk of a neurodevelopmental disorder, as compared with the reference population, but the absolute risk was low and there were no cases of intellectual disability or cerebral palsy. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Trastorno del desarrollo neurológico en fetos con sospecha de ventriculomegalia leve aislada prenatal OBJETIVO: Estimar la prevalencia de trastornos específicos del desarrollo neurológico en fetos con sospecha de ventriculomegalia leve aislada (IMV, por sus siglas en inglés) prenatal en el segundo trimestre del embarazo, a fin de optimizar el proceso de asesoramiento. MÉTODOS: Este estudio estuvo basado en un registro nacional que incluyó todos los embarazos con feto único a los que se les hizo ecografías en el primer y segundo trimestre entre el 1 de enero de 2008 y el 1 de octubre de 2014, identificados en la Base de Datos Danesa de Medicina Fetal y en las bases de datos clínicas locales en Dinamarca. Todos los fetos diagnosticados prenatalmente con IMV (por medición de la aurícula de los ventrículos laterales, 10,0-15,0 mm) entre las semanas de gestación 18 y 22 fueron monitoreados en los registros nacionales de pacientes hasta la edad de 2-7 años. Se obtuvo información sobre los diagnósticos de discapacidad intelectual, parálisis cerebral, trastornos del espectro autista, epilepsia y trastornos del desarrollo psicomotor. Se compararon los trastornos del desarrollo neurológico entre aquellos con IMV confirmada después del nacimiento y una población de referencia de niños en el mismo rango de edad. RESULTADOS: De una cohorte de 292 046 fetos, se encontró que 133 tenían IMV aparente en la ecografía del segundo trimestre realizada para detectar malformaciones fetales. El seguimiento a largo plazo no fue posible en 11 casos debido a la interrupción del embarazo, el aborto espontáneo, la muerte del recién nacido o el abandono del monitoreo. De los 122 niños nacidos vivos a los que se les dio seguimiento hasta los 2-7 años, se identificó a 15 con una anomalía adicional, mientras que a 107 se les confirmó postnatalmente que tenían IMV. De estos 107 niños, se registró el diagnóstico de un trastorno del desarrollo neurológico en seis (5,6%), lo que corresponde a una razón de momios de 2,64 (IC 95%: 1,16-6,02), en comparación con la población de referencia. Los diagnósticos fueron trastornos del espectro autista, epilepsia y trastornos del desarrollo psicomotor. Ninguno de estos 107 niños fue diagnosticado con discapacidad intelectual o parálisis cerebral. CONCLUSIONES: Nuestros resultados muestran que un diagnóstico confirmado de IMV se asoció con un mayor riesgo de trastorno del desarrollo neurológico, en comparación con la población de referencia, pero que el riesgo absoluto fue bajo y no hubo casos de discapacidad intelectual o parálisis cerebral.

Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases.

OBJECTIVE: To analyze the imaging and clinical features of fetal cardiac tumors, and to explore the relationship between tuberous sclerosis complex (TSC) and cardiac rhabdomyoma in the fetus. METHODS: Fifty-three women pregnant with a fetus affected by cardiac tumor(s) were examined by standardized fetal echocardiography (FE), and fetuses, mothers and fathers, including other relevant family members if necessary, underwent familial TSC genetic testing. Relevant pathological features, including pathological findings at clinical examination of liveborn infants and autopsy findings in terminated cases, were noted. RESULTS: Of the 53 fetuses, 37 had multiple cardiac tumors and 16 had a single cardiac tumor detected by FE. In all 53 fetuses and their families, TSC genetic testing was successful, showing that 37 of the fetuses had a TSC1 (n = 6) or TSC2 (n = 31) pathogenic or suspected pathogenic mutation, of which 25 were spontaneous and 12 were familial mutations. The proportion of single and multiple cardiac tumors at FE was significantly different between the group of fetuses with positive genetic test results and that with negative results for TSC (31% and 86%, respectively), although the presence of multiple or single tumors was not associated with the type of TSC mutation. The decision to terminate the pregnancy was made by 45 women and their families, and eight fetuses were liveborn. Autopsy was performed in 38 fetuses, which revealed 36 cases with pathologically confirmed cardiac rhabdomyoma, one case of hemangioma and one case of fibroma. 93% of fetuses with multiple rhabdomyomas at autopsy and 71% of those with a single cardiac rhabdomyoma harbored a TSC1 or TSC2 mutation. CONCLUSION: Cardiac rhabdomyoma is the most common cardiac tumor in the fetus. The correlation between cardiac rhabdomyoma and TSC is strong regardless of the presence of single or multiple tumors. For fetuses with suspected cardiac rhabdomyoma identified by FE, prenatal genetic testing for TSC of both fetus and family members is recommended. A positive genetic diagnosis can help in counseling and planning for neonatal treatment. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.