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PURPOSE: To describe fetal brain Magnetic Resonance Imaging (MRI) findings in a large series of monochorionic (MC) pregnancies complicated by Twin Anemia-Polycythemia Sequence (TAPS) prenatally diagnosed, so to characterize the potential intracranial complications associated with this condition, their frequency and potential treatment options. METHODS: This is a retrospective study of MC twin pregnancies complicated by TAPS and undergone fetal MRI in a single institution from 2006 to 2023. MRI control was performed and post-natal ultrasound (US) or MRI were available. RESULTS: 1250 MC pregnancies were evaluated in our institution. 50 pregnancies (4%) were diagnosed with TAPS, 29 underwent a fetal brain MRI. 13/29 pregnancies (44.8%) demonstrated brain findings at MRI in at least a twin. Neuroradiological findings were detected in 14/57 twins (24.6%). We detected four main categories of findings: hemorrhagic lesions, T2-weighted white-matter hyperintensities (WMH), brain edema-swelling and venous congestion. Nineteen findings were present in the anemic and three in the polycythemic twins, with a statistically significant ratio between the two groups (p-value = 0.01). Intrauterine MRI follow-up demonstrated the sequalae of hemorrhagic lesions. A complete regression of brain swelling, veins prominence and T2-WMHs was demonstrated after treatment. Postnatal imaging confirmed prenatal features. CONCLUSIONS: Our work demonstrates that TAPS-related MRI anomalies consisted in edematous/hemorrhagic lesions that occur mostly in anemic rather than in polycythemic twins. Fetoscopic laser surgery could have a potential decongestant role. Therefore, prenatal MRI may help in counselling and management in TAPS pregnancies, especially for the planning of therapy and the monitoring of its efficacy.
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Transfusión Feto-Fetal , Imagen por Resonancia Magnética , Humanos , Femenino , Embarazo , Imagen por Resonancia Magnética/métodos , Estudios Retrospectivos , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/complicaciones , Adulto , Embarazo Gemelar , Diagnóstico Prenatal/métodos , Policitemia/diagnóstico por imagen , Anemia/diagnóstico por imagenRESUMEN
INTRODUCTION: We aimed to identify maternal and fetal complications and investigate postnatal and long-term outcomes of fetal hydrothorax (FHT) treated with pleuro-amniotic shunting (shunt). METHODS: Single-center retrospective observational cohort of shunt cases performed from 2000 to 2021. Risk factors for maternal complications, fetal demise, neonatal death (NND), and postnatal outcomes were identified. RESULTS: Out of 88 cases, 70 (79.5%) were complicated by hydrops, with an average gestational age (GA) at diagnosis of 27 weeks (range 16-34). In 16 cases, definitive etiology of FHT was identified; five cases of Noonan syndrome and three cases of monogenic disorders diagnosed by whole-exome sequencing (EPHB4, VEGFR3, RASA1). Shunt was performed at an average GA of 28 weeks (20-34), with a dislodgement in 10 cases (11.4%). Maternal: Complications occurred in three cases; survival rate was 76.1% (67/88). Follow-up data were available for 57/67 (85.1%) children. Incidence of severe neurodevelopmental impairment and pneumopathy (broncho dysplasia, persistent pulmonary hypertension of newborn, and asthma) was 5.3% and 8.8%, respectively. Post-treatment persistence of hydrops, FHT associated with genetic syndromes, and GA at birth were risk factors for fetal demise, NND, and postnatal complications. CONCLUSION: In truly isolated FHT, whenever indicated, pleuro-amniotic shunting is a safe procedure associated with good survival rate and long-term outcome.
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Hidrotórax , Embarazo , Femenino , Recién Nacido , Niño , Humanos , Lactante , Hidrotórax/cirugía , Estudios Retrospectivos , Atención Prenatal , Muerte Fetal/etiología , Edema , Proteína Activadora de GTPasa p120RESUMEN
OBJECTIVES: Monochorionic twins (MC) are at high risk of adverse outcomes and Doppler investigation of umbilical and cerebral flows is mandatory for their surveillance. The cerebro-placental (CPR) and umbilico-cerebral (UCR) ratios are considered non-invasive measures of fetal adaptation to hypoxemia. We aimed to provide longitudinal references for CPR and UCR from 16 to 37 weeks of gestation that are specific for MC twins, and compare these with singleton charts. METHODS: Longitudinal study of a cohort of consecutive uncomplicated MC twin pregnancies monitored at our unit from 2010 to 2018. The estimated centile curves were obtained estimating the median with fractional polynomials by a multilevel model and the external centiles through the residuals. The comparison with singletons references was made through graphic evaluation. RESULTS: One-hundred-fifty-two MC pregnancies were included with a median of 10 longitudinal ultrasounds each. References for CPR and UCR in function of gestational age are presented. Compared to singletons, MC twins showed an earlier and greater circulatory redistribution with lower CPR and higher UCR median values. CONCLUSIONS: MC twin-specific references for CPR and UCR suitable for serial monitoring are presented. The comparison with singleton references demonstrates substantial differences in the hemodynamic balance that must be considered when interpreting findings in MC twins.
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Placenta , Ultrasonografía Prenatal , Femenino , Edad Gestacional , Humanos , Estudios Longitudinales , Placenta/diagnóstico por imagen , Embarazo , Embarazo Gemelar , GemelosRESUMEN
INTRODUCTION: Human cytomegalovirus (HCMV) is the most common congenital infection, especially severe after a maternal primary infection; sequelae in neonates born to mothers experiencing a nonprimary infection have been already reported. Hereby, two cases of severe fetal HCMV disease in seroimmune gravidas referred to our Unit are described. CASES PRESENTATION: Case 1: A fetus at 21 weeks' gestation with signs of anemia and brain abnormalities at ultrasound, described at magnetic resonance (MR) imaging as ependymal irregularity and bilateral asymmetric parenchymal thinning; amniotic fluid sample was positive for HCMV although the woman had a previous immunity; after termination of pregnancy, autopsy demonstrated a thicken layer of disorganized neurons on the right cortical plate, while on the left, there was a morphological pattern coherent with polymicrogyria. Case 2: A fetus at 20 weeks' gestation with anemia, moderate atrioventricular insufficiency, hepatosplenomegaly but no major cerebral lesions. Fetal blood was positive for HCMV, although unexpected for prepregnancy maternal immunity, and intrauterine transfusion was needed. A cesarean section at 34 weeks' gestation was performed due to worsening condition of the fetus, who had a birthweight of 2,210 g and needed platelet transfusions, but MR examination and clinical evaluation were normal. CONCLUSION: The impact of nonprimary maternal infection on pregnancy outcome is unknown and fetal brain damage in HCMV seroimmune transmitter-mothers can occur as a consequence of maternal reinfection or reactivation for a hypotetic different role of HCMV-primed CD4+ or CD8+ T-cells in fetal brain, with progressive brain lesions coexistent in the first case and with severe unexpected anemia in the second case. A previous maternal HCMV immunity should not exempt to test anemic fetuses for such infection, nor to consider a potential transplacental transmission.
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Infecciones por Citomegalovirus , Complicaciones Infecciosas del Embarazo , Cesárea , Citomegalovirus , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico por imagen , Femenino , Feto , Humanos , Recién Nacido , Embarazo , Complicaciones Infecciosas del Embarazo/diagnósticoRESUMEN
OBJECTIVES: Right ventricular outflow tract abnormalities (RVOTA) have been mostly reported in recipient twins (RT) of monochorionic/diamniotic (MC/DA) twin pregnancies with twin-to-twin transfusion syndrome (TTTS). Aim of the study was to describe RVOTA detected in MC/DA pregnancies without TTTS. METHODS: Cases of RVOTA were retrieved from our database among all MC/DA pregnancies without TTTS from 2009 to 2018. RESULTS: Out of 891 MC/DA twin pregnancies without TTTS, 14 (1.6%) were associated with RVOTA: 10 pulmonary stenosis (PS), one steno-insufficiency, one insufficiency and two atresia (PA). In 93% of cases (13/14), pregnancy was complicated either by amniotic fluid discrepancy (AFD) or by TAPS or mostly by selective fetal growth restriction (sFGR) (11/13: 85%), involving predominantly (10/11: 91%) the large twin, with high incidence (9/11: 82%) of sFGR and AFD coexistence. Eight out of 14 (57%) survived after the perinatal period (7 PS, 1 PA). Five (62%) underwent pulmonary balloon valvuloplasty, whereas 3 children still showed persistent mild PS at cardiac follow up after 1 year of life. CONCLUSIONS: RVOTA can occur in MC/DA pregnancies without TTTS, particularly when other complications coexist. In complicated cases specialized fetal echocardiographic evaluation is recommended during pregnancy; RVOTA cases should be delivered in a tertiary level center, where cardiologists are available.
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Transfusión Feto-Fetal/diagnóstico por imagen , Embarazo Gemelar/fisiología , Obstrucción del Flujo Ventricular Externo/fisiopatología , Adulto , Femenino , Retardo del Crecimiento Fetal , Transfusión Feto-Fetal/diagnóstico , Humanos , Incidencia , Efectos Adversos a Largo Plazo/etiología , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos , Obstrucción del Flujo Ventricular Externo/diagnóstico por imagenRESUMEN
OBJECTIVE: Since prenatal diagnosis of isolated clubfoot has a false positive rate (FP) of 10%-40%, fetal parameters that might correlate with post-natal confirmation and grade of severity were investigated. METHOD: Retrospective analysis (2013-2019) of cases analysed with three-dimensional multiplanar view. The following data were recorded: the angle between the long axis of foot and lower leg; width, length and width-to-length ratio (W/L) of the foot; tibia length and calf width (T/C) ratio. Severity after birth was assessed using the Pirani classification. RESULTS: Diagnosis was confirmed in 45/53 neonates (84.9%, FP 15%). Values were higher for both angle and W/L in true vs false positive cases (median angle 100.4° versus 69.55°, p <.000; median W/L 0.53 vs 0.45, p = .001), no difference for T/C (3.77 vs 3.48, p = .8). The area under the curve for angle was 0.98 (CI 0.94-1.00), with a diagnostic cut-off of 84.7° (PPV of 100%, NPV of 66.7%). Median Pirani score, available for 33 neonates (73.3%) was 3 (IQR 3-4): only angle correlated with Pirani score (Spearman coefficient 0.36, p = .04) CONCLUSION: Measuring the angle between the foot and lower leg can reduce the FP rate of prenatal congenital clubfoot diagnosis and better predict the need for postnatal treatment.
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Pie Equinovaro/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Reacciones Falso Positivas , Femenino , Humanos , Recién Nacido , Embarazo , Estudios RetrospectivosRESUMEN
OBJECTIVES: To evaluate incidence of cerebral injury and outcome in a large series of monochorionic (MC) twin survivors after spontaneous single fetal demise. METHODS: Retrospective analysis of all MC pregnancies with single fetal demise diagnosed at, or referred to, the Fetal Therapy Unit "U. Nicolini," V. Buzzi Children's Hospital, Milan, Italy, from 2004 to 2015. Survivors evaluation protocol included detailed ultrasound (US) of intracranial anatomy, Doppler investigation of peak systolic velocity in the middle cerebral artery (MCA-PSV), and magnetic resonance (MR). Data were collected on pregnancy characteristics, postnatal brain scan, and MR and neurological follow-up. RESULTS: Seventy-eight consecutive MC pregnancies were analyzed. Median gestational age (GA) at single fetal demise was 22 weeks (range 15-36); median interval between single demise and live birth was 105 days (range 1-175), with a median GA at birth of 36 weeks (range 23-41). Prenatal MR was performed in 57 of 78 cases (73%). Cerebral injury affected 14/78 (18%) co-twins, 2 of whom were born immediately after single demise, with postnatal diagnosis of cerebral injury; of the other 12 fetuses that were studied before birth, 10 had a prenatal diagnosis of lesion both with US and MR, one only with MR, and in one case, a grade III intraventricular hemorrhage was reported only after delivery, which occurred at 25 weeks, 5 weeks after the single demise. Signs of fetal anemia (MCA-PSV value above 1.55 MoM) were related to a higher risk of prenatal cerebral injury; cases with postnatal diagnosis of lesion were delivered at lower GA. CONCLUSIONS: Cerebral injury affects 18% of co-twin survivors after single fetal demise in MC twin pregnancies, and evaluation and follow-up of these cases can improve detection rate of such damage.
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Lesiones Encefálicas/epidemiología , Muerte Fetal , Enfermedades Fetales/epidemiología , Embarazo Gemelar , Lesiones Encefálicas/diagnóstico por imagen , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Incidencia , Italia/epidemiología , Embarazo , Estudios Retrospectivos , Factores de Riesgo , Ultrasonografía PrenatalRESUMEN
Monochorionic twins, resulting from a single fertilized egg giving rise to two separate embryos, are monozygotic and considered genetically identical. However, discordant phenotypes have been reported in monozygotic twins. We analyzed a retrospective cohort of 155 monochorionic pregnancies (312 twins) with major discordant structural anomalies coded by the ICD-10 system in order to describe the spectrum of anomalies, the management of the pregnancies, and the perinatal outcome. Treatment options included conservative management, selective feticide with bipolar cord coagulation, or complete termination. All survivors underwent at least 24 months of postnatal follow-up. Discordancy was complicated by twin-to-twin transfusion syndrome in eight pregnancies (5%) and by selective intrauterine growth restriction in 41 (26%). Major structural anomalies affected one system in 139 cases (90%) and multiple systems in 16 (10%). Median gestational age at diagnosis was 19.1 weeks (IQR 16.4-21.3). The most frequent single-system anomalies involved the nervous and circulatory systems. In total, 72 anomalous twins (46%) and 116 normal co-twins (74%) were delivered at a median gestational age of 34.6 weeks (IQR 31.0-36.3). Neonatal/infant death of the anomalous twin occurred in 22 cases (14%), with an overall survival rate of 32% (50/155). Surviving anomalous twins underwent major surgery in 22/50 cases (44%), four of whom (8%) now suffer from severe neurologic morbidity. This study shows that a wide spectrum of major discordant structural anomalies can be found in monochorionic pregnancies. The outcome for the anomalous twin is poor, while the survival rate for the normal co-twin was 71%, with a favorable overall prognosis.
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Enfermedades en Gemelos/epidemiología , Retardo del Crecimiento Fetal/epidemiología , Transfusión Feto-Fetal/epidemiología , Resultado del Embarazo , Gemelos Monocigóticos , Adulto , Femenino , Edad Gestacional , Humanos , Italia/epidemiología , Embarazo , Prevalencia , Estudios RetrospectivosRESUMEN
BACKGROUND: The preferred treatment for twin-twin transfusion syndrome is fetoscopic laser coagulation of inter-twin vascular anastomoses on the monochorionic placenta. Severe postoperative complications can occur when inter-twin vascular anastomoses remain patent including twin-anemia polycythemia sequence or recurrent twin-twin transfusion syndrome. To minimize the occurrence of residual anastomoses, a modified laser surgery technique, the Solomon technique, was developed in which the entire vascular equator is coagulated. In the Solomon randomized controlled trial (NTR1245), the Solomon technique was associated with a significant reduction in twin-anemia polycythemia sequence and recurrence of twin-twin transfusion syndrome when compared with the standard laser surgery technique. Although a significant improvement in perinatal outcome was shown after the Solomon technique, the clinical importance should also be ascertained with long-term follow-up evaluation of the surviving children. OBJECTIVE: The purpose of this study was to compare the long-term neurodevelopmental outcome in surviving children with twin-twin transfusion syndrome who were included in the Solomon randomized trial and treated with either the Solomon technique or standard laser surgery technique. STUDY DESIGN: Routine standardized follow-up evaluation in survivors, at least 2 years after the estimated date of delivery, was performed at 2 of the 5 centers that participated in the Solomon trial: Buzzi Hospital Milan (Italy) and Leiden University Medical Center (The Netherlands). The primary outcome of this follow-up study was survival without long-term neurodevelopmental impairment at age 2 years. Neurodevelopmental impairment was defined as cerebral palsy, cognitive and/or motor development score of <85, bilateral blindness, or deafness. Cognitive and motor development was evaluated with the use of Bayley-III. All analyses per fetus, neonate, or child were conducted with the generalized estimated equation module to account for the effect that observations between co-twins are not independent. RESULTS: The primary outcome (survival without neurodevelopmental impairment) was detected in 95 of 141 cases (67%) in the Solomon group and in 99 of 146 cases (68%) in the standard group (P = .92). Neurodevelopmental impairment in long-term survivors who were included for follow-up evaluation was detected in 12 of 107 cases (11%) in the Solomon and in 10 of 109 cases (9%) in the standard group (P = .61). Neurodevelopmental impairment was due to cerebral palsy in 1 case (1%; spastic unilateral) in the Solomon group and in 2 cases (2%; spastic unilateral and spastic bilateral) in the standard group (P = .58). Cognitive development <85 cases was detected in 2 of 105 children (2%) in the Solomon group and in 6 of 106 children (6%) in the standard group (P = .23). Motor development <85 occurred in 8 of 103 children (8%) in the Solomon group and 3 of 104 children (3%) in the standard group (P = .23). CONCLUSION: We found no difference in survival without neurodevelopmental impairment between the Solomon and standard laser techniques. In view of the reduction of short-term complications and the absence of increased adverse long-term effects, these data support the use of the Solomon technique in the treatment of twin-twin transfusion syndrome.
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Transfusión Feto-Fetal/complicaciones , Transfusión Feto-Fetal/cirugía , Fetoscopía/métodos , Terapia por Láser/métodos , Trastornos del Neurodesarrollo/etiología , Bencenosulfonatos , Ceguera/etiología , Parálisis Cerebral/etiología , Preescolar , Sordera/etiología , Femenino , Fetoscopía/instrumentación , Estudios de Seguimiento , Humanos , Discapacidad Intelectual/etiología , Masculino , Trastornos de la Destreza Motora/etiología , EmbarazoRESUMEN
Pregnancies complicated by severe polyhydramnios are associated with a high rate of underlying fetal anomaly. Amnioreduction may be offered to alleviate maternal symptoms. This is a retrospective study of amnioreductions performed on singleton and twin gestations complicated by symptomatic polyhydramnios between 2010 and 2023 at our tertiary referral center. The indications, procedural techniques and pregnancy and neonatal outcomes were retrieved from an archive database and reviewed with the use of the maternal and child medical record chart, the hospital electronic clinical discharge report and telephone recalls. Our study comprised 86 pregnancies, 65 singletons and 21 twin pregnancies. Fetal anomalies were identified in 79% of cases, mainly gastrointestinal obstructive anomalies; 9.3% of cases were idiopathic. The median gestational age at first amnioreduction was 32.5 weeks, and peri-procedural complications were rare (1 case of placental abruption and 2 cases of preterm delivery). The median gestational age at delivery was 36.5 weeks, with a median prolongation of the pregnancy from the time of first drain until birth of 30 days. Preterm labor < 37 weeks occurred in 48.8% of procedures, with 26.7% of patients delivering before 34 weeks and pPROM < 36 weeks recorded in 23.2% of cases. In conclusion, amnioreduction offered to alleviate maternal symptoms is a reasonably safe procedure with a low complication rate. These pregnancies necessitate management in a tertiary referral center because of their need for a multidisciplinary approach both prenatally and postnatally.
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Introduction: Intrauterine transfusion is the treatment for fetal anemia resulting from maternal alloimmunization, infections (parvovirus B19 and cytomegalovirus), single demise of a monochorionic twin, chorioangioma, and other rare conditions. Fetal analgesia is mandatory to reduce movement and pain perception during the procedure. This study aims to evaluate perinatal outcomes for such procedures, following the routine use of fetal analgesia in our clinical practice. Materials and methods: Retrospective analysis of cases from 2009 to 2022, including all confirmed fetal anemia with fetal blood sampling. After fetal analgesia, Rh-negative concentrated red blood cells were transfused, with ultrasonographic follow-up 24â h and 1â week later. In case of suspected brain lesion, magnetic resonance imaging was performed. Elective delivery was considered in case of persistent anemia after 34â weeks. Post-natal follow-up and comprehensive obstetric and perinatal outcomes data were collected. Results: Altogether 59 anemic fetuses were included, with 34 (57.6%) being hydropic. The causes of anemia were maternal alloimmunization (22, 37.3%), infections (13, 22%), monochorionicity (10, 16.9%), rare conditions (9, 15.3%), and two chorioangiomas (3.4%). The median gestational age at the procedure was 25.2â weeks (18-32â weeks), with no related preterm premature rupture of membranes (<48â h), or side effects from fetal analgesia. Gestational age at delivery was 33â weeks (26-41â weeks), with survival rate of 90%. There were four fetal demises, two termination of pregnancies, and eight neonatal deaths due to persistent severe anemia after preterm delivery. The main contributors to adverse outcome were the type of anemia, and the management with a preterm delivery. Conclusion: Intrauterine transfusion of red blood cells under analgesia is safe, with low incidence of obstetric complication.
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BACKGROUND: Maternal cardiovascular adaptations are amplified in twin pregnancies to support the metabolic request of the feto-placental unit. Few studies have evaluated the maternal hemodynamics changes after routine use of laser surgery in the treatment of twin-twin transfusion syndrome. OBJECTIVE: The aim of our study was to evaluate hemodynamic changes in monochorionic twin pregnancies complicated by twin-twin transfusion syndrome before and after treatment with fetoscopic laser surgery. STUDY DESIGN: A prospective observational study from 2020 to 2022, included monochorionic twin pregnancies complicated with twin-twin transfusion syndrome undergoing laser surgery between 16 and 26 weeks of gestation. To assess placental function and perfusion, uterine artery pulsatility index, hemoglobin, hematocrit, and soluble fms-like tyrosine kinase-1/placental growth factor ratio sampling prelaser and 24 hours postlaser were measured. Echocardiography by a single cardiologist evaluated maternal hemodynamics at presurgery, 24 hours, and 1 week postlaser. Those data were crosswise compared with cardiovascular indices of uncomplicated monochorionic pregnancies recruited at the same gestational age using nonparametric tests. Moreover, we fitted random-intercept linear regression models to investigate maternal hemodynamic changes according to the amount of amniotic fluid drained during laser surgery. RESULTS: Forty-two twin-twin transfusion syndrome pregnancies with a median gestational age of 19.1 (17.4-20.9) weeks and 15 uncomplicated monochorionic pregnancies at the same gestational age were enrolled. Overall survival rate after laser was 72% with delivery at a median gestational age of 31.5 (27-34) weeks. Significant changes in blood chemistry and placental function were observed in the twin-twin transfusion syndrome group, along with alterations in arterial pressure, heart rate, cardiac output, and ventricular strain, eventually aligning with the uncomplicated group's values by 1 week postlaser. The amount of amniodrainage, with a 1000 ml cut-off, did not significantly impact hemodynamic parameters. Lastly, we detected a percentage of laser surgery complications in agreement with international literature and we did not record any maternal procedure-related problems. CONCLUSION: Our analysis highlighted that maternal cardiovascular status in monochorionic twin pregnancy complicated by twin-twin transfusion syndrome was more dynamic and; 1 week after fetoscopic laser ablation of placental anastomosis completed by amniodrainage, maternal hemodynamic parameters restored to values similar to uncomplicated monochorionic twin pregnancies.
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Transfusión Feto-Fetal , Terapia por Láser , Embarazo , Femenino , Humanos , Lactante , Transfusión Feto-Fetal/diagnóstico , Transfusión Feto-Fetal/cirugía , Embarazo Gemelar , Placenta , Factor de Crecimiento Placentario , Hemodinámica , Rayos Láser , Terapia por Láser/efectos adversosRESUMEN
Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in the first months of life, abnormal background EEG activity, and are associated with severe developmental delay and poor prognosis. Mutations and deletions in the STXBP1 gene are associated with Ohtahara syndrome, also known as "early infantile epileptic encephalopathy". We report an infant affected by EOEE with a 9q34.11 deletion that encompassed the genes STXBP1 and SPTAN1. The infant presented with neonatal encephalopathy without epileptic seizures and an EEG pattern varying from highly discontinuous to suppression-burst. This was followed by West syndrome at 2 months with atypical hypsarrhythmia and spasms, easily controlled by therapy. Our findings suggest that molecular analysis of STXBP1 should be considered for newborns affected by neonatal encephalopathy associated with a peculiar EEG pattern, even in the absence of neonatal epileptic seizures.
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Encéfalo/fisiopatología , Proteínas Munc18/genética , Espasmos Infantiles/fisiopatología , Anticonvulsivantes/uso terapéutico , Cromosomas Humanos Par 9 , Femenino , Eliminación de Gen , Humanos , Lactante , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/genética , Resultado del TratamientoRESUMEN
Hydatiform mole occurs in 1/1000 singleton and 1/20000-100,000 twin pregnancies. Although the pregnancy often ends in a miscarriage or presents with many obstetric complications such as preeclampsia, vaginal bleeding, hyperthyroidism, prematurity, or fetal malformations, in some cases of twin pregnancy, one of the fetuses can develop normally. Coexistence of a viable fetus in a twin molar pregnancy is more commonly described for cases of complete hydatiform moles than partial hydatiform moles. A partial hydatiform mole coexisting with a normal fetus was suspected in a 40-year-old woman, G2P1, at twelve weeks of gestation of a twin dichorionic diamniotic pregnancy. Serial antenatal ultrasound scans and serial evaluations of human chorionic gonadotropin were performed, and a healthy baby was delivered at term without any obstetric or neonatal complications. A twin pregnancy with partial hydatidiform mole and a coexisting normal fetus is a rare obstetric condition that can result, under proper management, in the delivery of a healthy baby without any sequelae for the mother or child.
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INTRODUCTION: Monochorionic twins (MC) develop under unique intrauterine conditions and show a high risk of compromise during fetal life. Here we describe umbilical vein blood flow (UVBF) and fetal oxygen and glucose utilization in uncomplicated MC twins and investigate possible differences within twin-pairs according to birth-order. METHODS: Prospective single-center study on 48 uncomplicated MC twins enrolled at the time of elective cesarean delivery. Ultrasound measurements of UVBF for Twin 1 and Twin 2 labelled according to birth-order were performed before spinal anesthesia. Umbilical arterial and venous blood samples were collected for each twin after fetal delivery, and fetal oxygen and glucose deliveries and uptakes were computed. RESULTS: All twins were delivered within 2 min from one-another under steady-state conditions at 36.4 weeks of median gestational age (IQR 36.0-37.0). Birthweight and umbilical cord gas analyses were within physiological ranges for all twins. Second-born twins showed significantly lower UVBF, measured before delivery, and lower median birthweight compared to first-borns. Moreover, median values of estimated fetal oxygen and glucose consumption were lower in second compared to first MC twins. DISCUSSION: Uncomplicated MC twins show different birthweight, oxygenation and metabolic rates based on their position in utero, hinting at pre-existing conditions possibly deriving by uneven vascular and metabolic distribution of the two placental territories. The innovative findings of this study emphasize the biological uniqueness of these pregnancies and prompt further physiological studies on MC twins and placenta metabolism.
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Placenta , Embarazo Gemelar , Embarazo , Femenino , Humanos , Placenta/irrigación sanguínea , Peso al Nacer , Estudios Prospectivos , Gemelos Monocigóticos , Edad GestacionalRESUMEN
Right ventricular outflow tract anomalies (RVOTAs), such as pulmonary stenosis (PS), pulmonary atresia (PA), and pulmonary insufficiency (PI), are typical cardiac anomalies in monochorionic twins, and they are complicated by twin-to-twin transfusion syndrome (TTTS). The aim of this study was to conduct a long-term postnatal cardiological evaluation of prenatal RVOTAs in monochorionic diamniotic twin pregnancies complicated by TTTS and treated with fetoscopic laser surgery (FLS) and to analyze possible prenatal predictors of congenital heart disease (CHD). Prenatal RVOTAs were retrospectively retrieved from all TTTS cases treated with FLS in our unit between 2009 and 2019. Twenty-eight prenatal cases of RVOTAs (16 PI, 10 PS, 2 PA) were observed out of 335 cases of TTTS. Four cases did not reach the postnatal period. CHD was present in 17 of the remaining 24 cases (70.8%), with 10 being severe (58.8%; 10/17); nine cases of PS required balloon valvuloplasty, and one case required biventricular non-compaction cardiomyopathy. The risk of major CHD increased with prenatal evidence of PS and decreased with the gestational age at the time of TTTS and with the prenatal normalization of blood flow across the pulmonary valve. Despite treatment with FLS, the majority of monochorionic diamniotic twin pregnancies complicated by TTTS with prenatal RVOTAs had CHD at long-term follow-up.
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BACKGROUND AND PURPOSE: Autosomal recessive cobblestone-like cortical malformation of the brain, with no eye or muscle involvement, has been reported in patients with biallelic mutations in ADGRG1 (formerly GPR56) and in other brain surface defects (eg, variants in COL3A1). We reported the intra-uterine brain MRI (iu-MRI), post-mortem MRI (pm-MRI), and neuropathology findings of a new ADGRG1 mutation in a fetus at early gestation. Imaging findings were compared with those of the sibling harboring the same mutation, to provide insights about the evolving morphology of such malformation. METHODS: A 21-week fetus underwent iu-MRI for a suspected cortical anomaly on ultrasound. After the MRI results, the termination of the pregnancy was carried out. A pm-MRI scan and autopsy were performed. A neuropathology-imaging correlation was achieved. The 5-year old sibling affected by developmental impairment also underwent a brain MRI. Both subjects underwent a genetic investigation. RESULTS: Two patterns of abnormality of the cerebral surface were identified on both fetal MRI: one at the vertex resembling a cobblestone-cortex due to neuronal overmigration into the subarchnoid space and the other in the occipital areas resembling polymicrogyria. These details closely matched the neuropathology findings. MRI findings of the sibling consisted of typical ADGRG1/GPR56-related brain findings showing a polymicrogyric-like cortex, also reported as bilateral frontal-parietal polymicrogyria. A flattened pons and small cerebellar vermis were present in both cases. Genetic testing demonstrated a novel homozygous variant c.1484T>C in the c gene in both cases. CONCLUSION: Our findings provide further evidence of the overlap of ADGRG1/GPR56-related brain dysgenesis with cobblestone-like cortical malformation of the brain.
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Malformaciones del Sistema Nervioso , Polimicrogiria , Preescolar , Femenino , Humanos , Embarazo , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Imagen por Resonancia Magnética/métodos , Mutación/genética , Polimicrogiria/patología , Diagnóstico PrenatalRESUMEN
Discordant placental echogenicity is observed in MC pregnancies complicated with twin anemia-polycythemia sequence, but could also belong to complicated singleton gestation.
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Prenatal DA closure due to early maternal intake of high-dose paracetamol and selective serotonin reuptake inhibitors. MC twin pregnancy uncomplicated by TTTS with discordant prenatal DA closure.
RESUMEN
The aim of this study was to investigate the management and outcome in the post-laser twin anemia polycythemia sequence (TAPS). Data of the international TAPS Registry, collected between 2014 and 2019, were used for this study. The primary outcomes were perinatal mortality and severe neonatal morbidity. Secondary outcomes included a risk factor analysis for perinatal mortality and severe neonatal morbidity. A total of 164 post-laser TAPS pregnancies were included, of which 92% (151/164) were diagnosed antenatally and 8% (13/164) postnatally. The median number of days between laser for TTTS and detection of TAPS was 14 (IQR: 7-28, range: 1-119). Antenatal management included expectant management in 43% (62/151), intrauterine transfusion with or without partial exchange transfusion in 29% (44/151), repeated laser surgery in 15% (24/151), selective feticide in 7% (11/151), delivery in 6% (9/151), and termination of pregnancy in 1% (1/151). The median gestational age (GA) at birth was 31.7 weeks (IQR: 28.6-33.7; range: 19.0-41.3). The perinatal mortality rate was 25% (83/327) for the total group, 37% (61/164) for donors, and 14% (22/163) for recipients (p < 0.001). Severe neonatal morbidity was detected in 40% (105/263) of the cohort and was similar for donors (43%; 51/118) and recipients (37%; 54/145), p = 0.568. Independent risk factors for spontaneous perinatal mortality were antenatal TAPS Stage 4 (OR = 3.4, 95%CI 1.4-26.0, p = 0.015), TAPS donor status (OR = 4.2, 95%CI 2.1-8.3, p < 0.001), and GA at birth (OR = 0.8, 95%CI 0.7-0.9, p = 0.001). Severe neonatal morbidity was significantly associated with GA at birth (OR = 1.5, 95%CI 1.3-1.7, p < 0.001). In conclusion, post-laser TAPS most often occurs within one month after laser for TTTS, but may develop up to 17 weeks after initial surgery. Management is mostly expectant, but varies greatly, highlighting the lack of consensus on the optimal treatment and heterogeneity of the condition. Perinatal outcome is poor, particularly due to the high rate of perinatal mortality in donor twins.