Management of twin reversed arterial perfusion sequence: eight cases over 13 years.

BACKGROUND: Twin reversed arterial perfusion (TRAP) sequence is a rare condition that affects primarily monozygotic monochorionic twin pregnancies in which a normal twin acts as a pump (donor) for an acardiac recipient (perfuse) twin. OBJECTIVE: We report our experience over the last 13 years at a tertiary health care center. DESIGN: Descriptive, retrospective case series SETTING: Tertiary health care center PATIENTS AND METHODS: All TRAP cases managed between the years 2009 and 2022 at our Fetal Diagnosis and Therapy Center were included. Data recorded included demographic and clinical information which was used to generate descriptive data. Patients were managed by a multidisciplinary team with variable interventions. MAIN OUTCOME MEASURE: Survival of normal twin SAMPLE SIZE: Eight RESULTS: Eight pregnant women with TRAP syndrome were managed at our center during that period. One was monozygotic monochorionic and the others were monochorionic diamniotic. Median maternal age at presentation was 27 years and median gestational age at diagnosis was 23 weeks. All were diagnosed with ultrasound (US) imaging. Three were managed with bipolar ligation of the cord of the acardiac twin under general anesthesia, one US-guided (single port) and 2 fetoscopic (2 ports) with a median operative time of 39 minutes. The last five cases were managed with US-guided radiofrequency ablation (RFA) under local anesthesia, one needed 2 sessions, 1 week apart. The median duration of the RFA procedure was 23 minutes. There were no complications and all had viable normal babies born at a median of 32 weeks of gestation (6 C-section, 2 spontaneous membrane rupture). CONCLUSIONS: Acardiac twin cord ligation and RFA are feasible and safe options with excellent outcome for TRAP syndrome. RFA may be preferable owing to its less invasiveness under local anesthesia. LIMITATIONS: None, given the rarity of the disease and the study design. CONFLICT OF INTEREST: None.

Complications of intravascular intrauterine transfusion for Rh alloimmunization.

BACKGROUND: Intravascular intrauterine transfusion (IUT) is considered a safe procedure, but complications still occur, including fatalities. OBJECTIVE: Review the outcomes of Rh alloimmunization, including indications and possible complications. DESIGN: Retrospective cohort (medical record review). SETTING: Tertiary care center. PATIENTS AND METHODS: We retrieved the records for all mothers who had an IUT for Rh alloimmunization between January 2009 and August 2019. We collected data on complications, post-transfusion hemoglobin and antibody combinations. MAIN OUTCOME MEASURE: Complications of IUT. SAMPLE SIZE: 119 mothers with 154 fetuses (154 different pregnancies). RESULTS: The 154 fetuses had 560 intrauterine transfusions. The median pre-IUT hemoglobin was a median of 8.0 g/dL while the median post-IUT hemoglobin 16 g/dL. Immediate procedure-related complications included fetal bradycardia in 2.7%, significant bleeding from the cord puncture site (for more than 2 minutes in 0.9%), and contractions in 0.9%. Eight (5.2%) were delivered by cesarean delivery due to IUT-specific complications such as post-procedure fetal bradycardia. Intrauterine fetal death complicated 8.4% of the pregnancies (13 fetuses). Phototherapy was required in 76 (49.4%), postnatal blood transfusions in 17 (11%), and exchange transfusion in 11 (7.1%). Neonatal death occurred 8 (5.2%). Data were insufficient to assess associations of complications with antibody combinations. CONCLUSIONS: Intrauterine transfusion is an effective treatment with high survival rates (around 90% for cases of Rh alloimmunization). LIMITATIONS: Case series. CONFLICT OF INTEREST: None.

Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism.

Patients with succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency and 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency are at increased risk of developing metabolic acidosis and hypoglycemia during pregnancy, delivery, and postpartum period. This can be fatal if not treated appropriately. Pregnancy in such patients should be managed in a specialist center by a multidisciplinary team including metabolic physician, high-risk obstetrician, and metabolic dietician. We report two pregnancies in women with SCOT deficiency and HMG-CoA lyase deficiency, which were successfully managed at this tertiary care center. The patient with SCOT deficiency had recurrent ketoacidosis due to severe nausea and vomiting requiring several hospital admissions during pregnancy, while the patient with HMG-CoA lyase deficiency remained metabolically stable. Both patients, nevertheless, had normal delivery of live-born infants and had uneventful postpartum period.

Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.

OBJECTIVE: Prenatal diagnosis of Canavan disease by measuring N-acetylaspartic acid (NAA) in amniotic fluid is reliable and preferred over aspartoacylase enzyme assay especially in populations with unknown mutations. Typically based on GC-MS, existing methods are time-consuming and laborious. We developed a novel LC-MS/MS method for determination of NAA in amniotic fluid with minimal sample preparation. METHOD: NAA and d(3)-NAA were detected by negative-ion electrospray ionization-MS/MS. Quantification was achieved by standard addition using six 0.1 mL portions of each specimen enriched with increasing NAA amounts (0, 0.05, 0.1, 0.2, 0.3, and 0.4 microg) and endogenous NAA was calculated by extrapolation. RESULTS: Injection-to-injection time was 2 min whereas the turn around time from sample receipt was about 1 h. Intraday (n = 10) and interday (n = 10) variations were less than 9.4%. The reference range determined using gestation-matched controls (n = 12) of 1.1-2.7 micromol/L is in agreement with the literature. Specimens from at-risk pregnancies with established diagnosis (n = 4) were successfully analyzed. CONCLUSION: We developed a new method that enables reliable, sensitive, and selective determination of NAA in a small volume of amniotic fluid for the prenatal diagnosis of Canavan disease. The simple sample preparation adopted in this work precluded the necessity for extraction and derivatization.