Twin-to-twin transfusion syndrome

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Twin-to-twin transfusion syndrome
Classification and external resources
TTTS babypic.jpeg
A pair of newborn twins affected by TTTS. Both the recipient (left) and donor (right) survived.
ICD-10 O43.0, P02.3, P50.3
ICD-9 762.3 , 772.0
DiseasesDB 32064
MedlinePlus 001595
eMedicine med/3410
MeSH D005330

Twin-to-twin transfusion syndrome (TTTS, also known as Feto-Fetal Transfusion Syndrome (FFTS) and Twin Oligohydramnios-Polyhydramnios Sequence (TOPS)) is a complication of monochorionic diamniotic (MCDA) pregnancy in which the presence of oligohydramnios in one sac and polyhydramnios in the other sac results from intertwin vascular connections within the placenta.[1]

Diagnosis/definition[edit]

Twin-twin transfusion syndrome (TTTS) is diagnosed prenatally by ultrasound imaging. The diagnosis requires that certain symptoms be present in an identical twin, or higher-order multiple pregnancy in which 2 or more babies share a single placenta. They are, for the "Monochorionic-Diamniotic" pregnancies, with Individual Amnions: The presence of oligohydramnios (defined as a maximal vertical pocket [MVP] of <2 cm) in one sac, and of polyhydramnios (a MVP of >8 cm) in the other sac.[2] MVP of 2 cm and 8 cm represent the 5th and 95th percentiles for amniotic fluid measurements, respectively, and the presence of both is used to define stage I TTTS.[3] If there is a subjective difference in amniotic fluid in the 2 sacs that fails to meet these criteria, progression to TTTS occurs in <15% of cases.[4] Although growth discordance (usually defined as >20%) and intrauterine growth restriction (IUGR) (estimated fetal weight <10% for gestational age) often complicate TTTS, growth discordance itself or IUGR itself are not diagnostic criteria.[5] The differential diagnosis may include selective IUGR, or possibly an anomaly in 1 twin causing amniotic fluid abnormality.[6] Twin anemia-polycythemia sequence (TAPS) has been recently described in MCDA gestations, and is defined as the presence of anemia in the donor and polycythemia in the recipient, diagnosed antenatally by middle cerebral artery (MCA)–peak systolic velocity (PSV) >1.5 multiples of median in the donor and MCA PSV <1.0 multiples of median in the recipient, in the absence of oligohydramnios-polyhydramnios.[7] Further studies are required to determine the natural history and possible management of TAPS. TTTS can occur in a MCDA twin pair in triplet or higher-order pregnancies.

Identical twins born with Twin-to-twin transfusion syndrome (TTTS)

The most commonly used TTTS staging system was developed by Quintero et al. in 1999, and is based on sonographic findings.[3] The TTTS Quintero staging system includes 5 stages, ranging from mild disease with isolated discordant amniotic fluid volume to severe disease with demise of one or both twins. This system has some prognostic significance and provides a method to compare outcome data using different therapeutic interventions. Although the stages do not correlate perfectly with perinatal survival,[8] it is relatively straightforward to apply, may improve communication between patients and providers, and identifies the subset of cases most likely to benefit from treatment.[9][10]

The Quintero staging of twin-twin transfusion syndrome [3]

Stage Ultrasound parameter Categorical criteria
I MVP of amniotic fluid MVP <2 cm in donor sac; MVP >8 cm in recipient sac
II Fetal bladder Symptoms of Stage I except Donor has no measurable fluid, Nonvisualization of fetal bladder in donor twin over 60 min of observation
III Symptoms of Stage II with Doppler anomalies in the Umbilical artery, ductus venosus, and umbilical vein Absent or reversed umbilical artery diastolic flow, reversed ductus venosus a-wave flow, pulsatile umbilical vein flow
IV Symptoms of Stage III with Fetal hydrops Hydrops Fetalis in one or both twins
V Single or Double Loss Fetal demise of one or both twins

MVP = maximal vertical pocket

Since the development of the Quintero staging system, much has been learned about the changes in fetal cardiovascular physiology that accompany disease progression (discussed below). Myocardial performance abnormalities have been described, particularly in recipient twins, including those with only stage I or II TTTS.[11] Several groups of investigators have attempted to use assessment of fetal cardiac function to either modify the Quintero TTTS stage[12] or develop a new scoring system.[13] While this approach has some benefits, the models have not yet been prospectively validated. As a result, a recent expert panel concluded that there were insufficient data to recommend modifying the Quintero staging system or adopting a new system.[9] Thus, despite debate over the merits of the Quintero system, at this time it appears to be a useful tool for the diagnosis of TTTS, as well as for describing its severity, in a standardized fashion.

Epidemiology/Incidence[edit]

TTTS complicates about 8-10% of Monochorionic Diamniotic pregnancies.[14][15] The prevalence of TTTS is approximately 1-3 per 10,000 births.[16]

Risk factors/associations[edit]

There are several second- and even first-trimester sonographic findings that have been associated with TTTS.

First-trimester findings

  • Crown-rump length discordance[17]
  • Nuchal translucency >95th percentile[18][19] or discordance >20% between twins[20][21]
  • Reversal or absence of ductus venosus A-wave[22][23]

Second-trimester findings

  • Abdominal circumference discordance[17]
  • Membrane folding[18][24]
  • Velamentous placental cord insertion (donor twin)[24]
  • Placental echogenicity (donor portion hyperechoic)[25]

Complications[edit]

The presentation of TTTS is highly variable and often does not progress in a predictable manner. Single twin survival rates in TTTS vary widely between 15-70%, depending on gestational age at diagnosis and severity of disease. Two thirds of recipient twins show diastolic dysfunction, as indicated by a prolonged ventricular isovolumetric relaxation time, which is associated with an increased risk of fetal death. Scoring systems that include cardiac dysfunction have been developed, but their usefulness to predict outcome in TTTS remains controversial. The natural history of advanced (e.g., stage >III) TTTS is bleak, with a reported perinatal loss rate of 70-100%, particularly when it presents <26 weeks. Even laser-treated TTTS is associated with a perinatal mortality rate of 30-50% (Table 7), and a 5-20% chance of long-term neurologic handicap (Table 8). Although the risk of membrane rupture may be as low as 10% in experienced centers, there remains a 10-30% procedure-associated fetal loss with laser.

Management[edit]

Screening/Work-up: All women with a twin pregnancy should be offered an ultrasound examination at 10–13 weeks of gestation to assess viability, chorionicity, crown-rump length, and nuchal translucency. Serial sonographic evaluation should be considered for all twins with MCDA placentation, beginning at around 16 weeks and continuing about every 2 weeks until delivery. Screening for congenital heart disease is warranted in all monochorionic twins, in particular those complicated by TTTS.

Counseling: Extensive counseling should be provided to patients with pregnancies complicated by TTTS including natural history of the disease, as well as management options and their risks and benefits.

Stage I: The natural history of stage I TTTS is that more than three-fourths of cases remain stable or regress without invasive intervention, with perinatal survival of about 86%. Therefore, many patients with stage I TTTS may be managed expectantly. Stages I and II TTTS have been shown to regress following amnioreduction in up to 20-30% of cases, a rate that is not significantly different than with expectant management, especially for stage I.

Stages II, III, IV: Fetoscopic laser photocoagulation of placental anastemoses is considered by most experts to be the best available approach for states II, III, and IV TTTS in continuing pregnancies at < 26 weeks, but the meta-analysis data show no significant survival benefit, and the long-term neurologic outcomes in the Eurofetus trial were not different than in nonlaser-treated controls. Survival rates of 50-70% can be expected after fetoscopic laser for the treatment of TTTS (Table 7). Expectant management and amnioreduction remain 2 options in cases if TTTS > stage I at <26 weeks of gestation in which the patient does not have the ability to travel to a center that performs fetoscopic laser photocoagulation. In cases complicated by severe unequal placental sharing with marked discordant growth and IUGR, major malformation affecting 1 twin, or evidence of brain injury either before or subsequent to laser, selective reduction by cord occlusion or by termination of the entire pregnancy may be reasonable management choices for the patient and her family < 24 weeks’ gestation.

Stage V: In cases of death of 1 MCDA twin, the risks to the cotwin include a 10% risk of death and 10-30% risk of neurologic complications. No intervention has been evaluated in randomized trials to try to ameliorate outcome. Antepartum: Steroids for fetal maturation should be considered at 24 0/7 to 33 6/7 weeks, particularly in pregnancies complicated by stage > III TTTS, and those undergoing invasive interventions.

Delivery: Optimal timing of delivery for TTTS pregnancies depends on several factors, including disease stage and severity, progression, effect of interventions (if any), and results of antenatal testing. Timing of delivery at around 34–36 weeks may be reasonable in selected cases.

History[edit]

TTTS was first described by a German obstetrician, Friedrich Schatz, in 1875. Once defined by neonatal parameters—differences in birth weight and cord hemoglobin at the time of delivery—TTTS is now defined differently. Today, it is known that discordant fetal weights will most likely be a late manifestation, and fetal hemoglobin through cordocentesis is often equivalent in the twin pair even in severe TTTS.[26]

TTTS in art[edit]

De Wikkellkinderen (The Swaddled Children), 1617, by an unknown artist, is thought to depict TTTS.

A painting known as the De Wikkellkinderen (The Swaddled Children), from 1617, is thought to represent a depiction of TTTS.[27] The drawing shows twins that appear to be identical, but one is pale (possibly anemic), while the other is red (possibly polycythemic). Analysis of the family histories of the owners of the painting suggests that the twins did not survive to adulthood, although whether that is due to TTTS is uncertain.

Although somewhat of a stretch, due to the detail of "magical birthgiving" in the folklore, an example of TTTS might have been noted ages before Schatz classified it or the painting "De Wikkellkinderen" illustrated, as an old Norse fairy tale, "Tatterhood", seemed to explain it, with one of the two girls being lovely but weak (pale skin and delicacy of anemia has often associated with how girls were most expected to be at the time) and the other one, the title heroine, was considered hideous and too strong (polycythemia has a higher blood cell count and often includes unsightly blemishes). Of course, with both twins growing up to be healthy adults, the debate of truth in fiction is still a mystery.[citation needed]

Notable individuals[edit]

Michael J Fox[28] In his book, he describes the birth of his twins and how they suffered from TTTS.[vague]

See also[edit]

External links[edit]

Foundations[edit]

Treatment centers[edit]

Further reading[edit]

  • Skupski, Daniel W. MD, Twin-To-Twin Transfusion Syndrome, 2013. Jp Medical Ltd.
  • Quintero, Ruben A. (editor), Twin-Twin Transfusion Syndrome, 2007. CRC Press

References[edit]

  1. ^ Twin-twin transfusion syndrome. Society for Maternal-Fetal Medicine, Simpson LL. Am J Obstet Gynecol. 2013 Jan;208(1):3-18
  2. ^ Simpson LL . Twin-twin transfusion syndrome . In: Copel JA editors. Obstetric imaging . 1st ed.. Philadelphia: Elsevier; 2012
  3. ^ a b c Quintero RA , Morales WJ , Allen MH , Bornick PW , Johnson PK , Kruger M . Staging of twin-twin transfusion syndrome . J Perinatol . 1999;19:550–555
  4. ^ Huber A , Diehl W , Zikulnig L , Bregenzer T , Hackeloer BJ , Hecher K . Perinatal outcome in monochorionic twin pregnancies complicated by amniotic fluid discordance without severe twin-twin transfusion syndrome . Ultrasound Obstet Gynecol . 2006;27:48–52
  5. ^ Danskin FH , Neilson JP . Twin-to-twin transfusion syndrome: what are appropriate diagnostic criteria? . Am J Obstet Gynecol . 1989;161:365–369
  6. ^ Gandhi M , Papanna R , Teach M , Johnson A , Moise KJJ . Suspected twin-twin transfusion syndrome: how often is the diagnosis correct and referral timely? . J Ultrasound Med . 2012;31:941–945
  7. ^ Slaghekke F , Kist WJ , Oepkes D , et al. Twin anemia-polycythemia sequence: diagnostic criteria, classification, perinatal management and outcome . Fetal Diagn Ther . 2010;27:181–190
  8. ^ Taylor MJ , Govender L , Jolly M , Wee L , Fisk NM . Validation of the Quintero staging system for twin-twin transfusion syndrome . Obstet Gynecol . 2002;100:1257–1265
  9. ^ a b Stamilio DM , Fraser WD , Moore TR . Twin-twin transfusion syndrome: an ethics-based and evidence-based argument for clinical research . Am J Obstet Gynecol . 2010;203:3–16
  10. ^ Rossi AC , D'Addario V . The efficacy of Quintero staging system to assess severity of twin-twin transfusion syndrome treated with laser therapy: a systematic review with meta-analysis . Am J Perinatol . 2009;26:537–544
  11. ^ Habli M , Michelfelder E , Cnota J , et al. Prevalence and progression of recipient-twin cardiomyopathy in early-stage twin-twin transfusion syndrome . Ultrasound Obstet Gynecol . 2012;39:63–68
  12. ^ Michelfelder E , Gottliebson W , Border W , et al. Early manifestations and spectrum of recipient twin cardiomyopathy in twin-twin transfusion syndrome: relation to Quintero stage . Ultrasound Obstet Gynecol . 2007;30:965–971
  13. ^ Rychik J , Tian Z , Bebbington M , et al. The twin-twin transfusion syndrome: spectrum of cardiovascular abnormality and development of a cardiovascular score to assess severity of disease . Am J Obstet Gynecol . 2007;197:392.e1–392.e8
  14. ^ Lewi L , Jani J , Blickstein I , et al. The outcome of monochorionic diamniotic twin gestations in the era of invasive fetal therapy: a prospective cohort study . Am J Obstet Gynecol . 2008;199:514.e1–514.e8
  15. ^ Acosta-Rojas R , Becker J , Munoz-Abellana B , et al. Twin chorionicity and the risk of adverse perinatal outcome . Int J Gynaecol Obstet . 2007;96:98–102
  16. ^ Blickstein I . Monochorionicity in perspective . Ultrasound Obstet Gynecol . 2006;27:235–238
  17. ^ a b Lewi L , Lewi P , Diemert A , et al. The role of ultrasound examination in the first trimester and at 16 weeks' gestation to predict fetal complications in monochorionic diamniotic twin pregnancies . Am J Obstet Gynecol . 2008;199:493.e1–493.e7
  18. ^ a b . Sebire NJ , Souka A , Skentou H , Geerts L , Nicolaides KH . Early prediction of severe twin-to-twin transfusion syndrome . Hum Reprod . 2000;15:2008–2010
  19. ^ Sebire NJ , D'Ercole C , Hughes K , Carvalho M , Nicolaides KH . Increased nuchal translucency thickness at 10-14 weeks of gestation as a predictor of severe twin-to-twin transfusion syndrome . Ultrasound Obstet Gynecol . 1997;10:86–89
  20. ^ Kagan KO , Gazzoni A , Sepulveda-Gonzalez G , Sotiriadis A , Nicolaides KH . Discordance in nuchal translucency thickness in the prediction of severe twin-to-twin transfusion syndrome . Ultrasound Obstet Gynecol . 2007;29:527–532
  21. ^ Linskens IH , de Mooij YM , Twisk JW , Kist WJ , Oepkes D , van Vugt JM . Discordance in nuchal translucency measurements in monochorionic diamniotic twins as predictor of twin-to-twin transfusion syndrome . Twin Res Hum Genet . 2009;12:605–610
  22. ^ Maiz N , Staboulidou I , Leal AM , Minekawa R , Nicolaides KH . Ductus venosus Doppler at 11 to 13 weeks of gestation in the prediction of outcome in twin pregnancies . Obstet Gynecol . 2009;113:860–865
  23. ^ Matias A , Montenegro N , Loureiro T , et al. Screening for twin-twin transfusion syndrome at 11-14 weeks of pregnancy: the key role of ductus venosus blood flow assessment . Ultrasound Obstet Gynecol . 2010;35:142–148
  24. ^ a b De Paepe ME , Shapiro S , Greco D , et al. Placental markers of twin-to-twin transfusion syndrome in diamniotic-monochorionic twins: a morphometric analysis of deep artery-to-vein anastomoses . Placenta . 2010;31:269–276
  25. ^ Kusanovic JP , Romero R , Gotsch F , et al. Discordant placental echogenicity: a novel sign of impaired placental perfusion in twin-twin transfusion syndrome? . J Matern Fetal Neonatal Med . 2010;23:103–106
  26. ^ Johnson, A. & Moise, K., J. "Improving Survival in Twin-Twin Transfusion Syndrome. Contemporary OB/GYN December 2006" (PDF). 
  27. ^ Berger H, de Waard F, Molenaar Y (2000). "A case of twin-to-twin transfusion in 1617". Lancet 356 (9232): 847–8. doi:10.1016/S0140-6736(00)02665-9. PMID 11022944. 
  28. ^ Fox, Michael J. "Pg 197." Lucky man. New York: Hyperion, 2002.