Reversal of twin-twin transfusion syndrome: frequency, vascular anatomy, associated anomalies and outcome

To determine the frequency of reversal of transfusional gradient and phenotype in a large cohort of prospectively studied cases of twin-twin transfusion syndrome (TTTS) and seek evidence of clinical or placental anastomotic associations.

Consecutive cases of TTTS seen over an eight-year period with serial documentation of ultrasonic growth, liquor volume and fetal and placental Doppler studies were reviewed. Postnatal injection studies were inspected.

Reversal of TTTS occurred in 5 of 96 affected pregnancies (5%). Two of the five cases had underlying aneuploidy or genetic syndrome, higher than the 2% frequency found in cases without reversal of TTTS (p < 0.05). Placental anastomotic configurations provided no consistent explanation for reversal of phenotype.

This study documents the frequency of reversal of the direction of TTTS, and suggests that it is a heterogeneous condition. Reversal of donor-recipient phenotype may be explained by haemodynamic changes secondary to underlying aneuploidy/genetic syndromes, to the presence of multiple anastomoses in either direction or following laser ablation. This series together with previous case reports argues for a high level of suspicion for underlying aneuploidy, genetic syndrome or structural defects where there is reversal of the donor-recipient phenotype.