Project description:Twin reversed arterial perfusion (TRAP) sequence is a specific and severe complication of monochorionic multiple pregnancy, characterized by vascular anastomosis and partial or complete lack of cardiac development in one twin. Despite its rarity, interest in the international literature is rising, and we aimed to review its pathogenesis, prenatal diagnostic features and treatment options. Due to the parasitic hemodynamic dependence of the acardiac twin on the pump twin, the management of these pregnancies aims to maximize the pump twin's chances of survival. If treatment is needed, the best timing of intervention is still debated, although the latest studies encourage intervention in the first trimester of pregnancy. As for the technique of choice to interrupt the vascular supply to the acardiac twin, ultrasound-guided laser coagulation and radiofrequency ablation of the intrafetal vessels are usually the preferred approaches.

| S-EPMC7266514 | biostudies-literature

Timing of intra-fetal laser therapy for twin reversed arterial perfusion (TRAP) sequence: Retrospective series and systematic review and meta-analysis.

Project description:ObjectiveTo estimate the neonatal survival rate after intra-fetal laser (IFL) treatment for twin reversed arterial perfusion (TRAP) sequence, and to investigate the effect of gestational age at the time of procedure.MethodsRetrospective cohort study of TRAP sequences followed at our institution from 2013-2020. Systematic review and meta-analysis of the neonatal survival rate after IFL was conducted. Both diamniotic and monoamniotic monochorionic pregnancies were included. A subgroup analysis to compare outcomes according to gestational age at procedure (<16+0 weeks or ≥16+0 weeks) was planned.ResultsThirteen pregnancies were followed at our center and seven were treated with IFL: the survival rate was 57%. Ten studies published between 2008 and 2020 for a total of 156 cases were included in the meta-analysis. The overall neonatal survival after IFL was 79% (95% CI 0.72-0.86, I2 22%). A random-effects model comparing neonatal survival for IFL performed <16+0 weeks versus ≥16+0 weeks showed no significant difference between the two groups (OR = 0.93; 95% CI 0.37-2.33).ConclusionIFL is a safe and minimally invasive technique for the treatment of TRAP sequence, with a survival rate of 79%. Gestational age at treatment (before or after 16 weeks) does not seem to affect neonatal survival rate.

| S-EPMC9790320 | biostudies-literature

"The Strange Case of Dr Pump and Mr Acardiac": The Twin Reversed Arterial Perfusion (TRAP) Sequence in Two Monochorionic Monoamniotic (MCMA) Twin Pregnancies-Diagnosis, Prognosis and Management: Review of Literature.

Project description:The Twin Reversed Arterial Perfusion (TRAP) Sequence is an extremely rare complication of monochorionic twin pregnancies, with one severely malformed twin (the "acardiac") lacking autonomous placental blood supply and being perfused by the co-twin (the "pump"), through arterio-arterial (and sometimes also veno-venous) vascular anastomoses located on the placental surface. The prognosis is poor: mortality is 100% in the acardiac twin because of its severe malformations and about 50-55% in the pump twin, mainly due to heart failure and prematurity. So, the goal of perinatal management of the TRAP twin pregnancy is to deliver a healthy and near-term pump twin without heart failure or fetal hydrops. Intuitively, the earlier the diagnosis, the better the outcome. Herein, we report two cases of monochorionic monoamniotic (MCMA) twin pregnancies complicated by the TRAP Sequence, which are of interest since the objective of early diagnosis was achieved by means of transvaginal and 3D ultrasound, two techniques which revealed themselves as being useful to this purpose but are underused in the literature. The second aim of this study is to provide an overview of literature data about the diagnosis, prognosis establishment, and management of this rare condition, which are still debated and unclear due to negligible poor-quality evidence.

| S-EPMC10572342 | biostudies-literature

Twin Pregnancy with One Fetus and One Complete Mole - A Case Report.

Project description:Twin pregnancy consisting of one fetus and one complete mole (CMCF, complete hydatidiform mole and a coexistent fetus) is an obstetric rarity with an incidence of 1/22 000 to 1/100 000 pregnancies. Associated risks include prematurity, intrauterine death, vaginal bleeding, preeclampsia, hyperthyroidism, theca lutein cysts, uterine rupture and the development of malignant neoplasia in the form of a trophoblastic tumour (GTD, persistent gestational trophoblastic disease), which is thought to be the most common complication. We report the case of a 33-year-old patient diagnosed with CMCF in the 15th week of pregnancy. After comprehensive counselling the patient chose to proceed with her pregnancy under close observation and prophylactic fetal lung maturation. We were able to extend the pregnancy to 32 weeks gestation when heavy vaginal bleeding forced a decision to deliver by caesarean section.

| S-EPMC4954790 | biostudies-literature

Twin Mitochondrial Sequence Analysis.

Project description:When applying genome-wide sequencing technologies to disease investigation, it is increasingly important to resolve sequence variation in regions of the genome that may have homologous sequences. The human mitochondrial genome challenges interpretation given the potential for heteroplasmy, somatic variation, and homologous nuclear mitochondrial sequences (numts). Identical twins share the same mitochondrial DNA (mtDNA) from early life, but whether the mitochondrial sequence remains similar is unclear. We compared an adult monozygotic twin pair using high throughput-sequencing and evaluated variants with primer extension and mitochondrial pre-enrichment. Thirty-seven variants were shared between the twin individuals, and the variants were verified on the original genomic DNA. These studies support highly identical genetic sequence in this case. Certain low-level variant calls were of high quality and homology to the mitochondrial DNA, and they were further evaluated. When we assessed calls in pre-enriched mitochondrial DNA templates, we found that these may represent numts, which can be differentiated from mtDNA variation. We conclude that twin identity extends to mitochondrial DNA, and it is critical to differentiate between numts and mtDNA in genome sequencing, particularly since significant heteroplasmy could influence genome interpretation. Further studies on mtDNA and numts will aid in understanding how variation occurs and persists.

| S-EPMC3768015 | biostudies-literature

Transcatheter Valve Implantation in Reversed Potts Shunt in Pulmonary Arterial Hypertension : Keeping the Shunt Reversed

Project description:The reversed Potts shunt is designed to offload the right ventricle in severe pulmonary arterial hypertension. We present a case of bidirectional flow across a reversed Potts shunt leading to pulmonary edema, with clinical improvement after implantation of a transcatheter valve in the shunt to maintain unidirectional flow. (Level of Difficulty: Advanced.) Graphical abstract

| S-EPMC9706157 | biostudies-literature

Complete hydatidiform mole with coexisting twin fetus: usefulness of MRI in management planning.

Project description: Not available

| S-EPMC4228011 | biostudies-literature

Discordant placental echogenicity: a novel sign of impaired placental perfusion in twin-twin transfusion syndrome?

Project description:Twin-twin transfusion syndrome (TTTS) is present in approximately 5-15% of monochorionic-diamniotic twin pregnancies. A chronic blood flow imbalance through placental vascular anastomoses from the donor to the recipient twin is considered the pathophysiologic mechanism responsible for the development of TTTS. Discordant echogenicity between the donor and recipient placenta has been proposed in a previous case report as an additional sonographic sign of TTTS. Here, we present a case of TTTS with discordant placental echogenicity characterized by a hyperechoic and thicker placental side in the donor twin associated with reduced vascular Doppler signals, histologic lesions suggestive of ischemic changes, and overexpression of anti-angiogenic factors.

| S-EPMC3445264 | biostudies-literature