Vanishing Twin Syndrome: Diagnosis and Implications
A vanishing twin refers to the spontaneous demise of one fetus in a multiple gestation pregnancy during the first trimester, with subsequent resorption of the embryonic tissue, resulting in a singleton pregnancy at delivery. 1
Definition and Prevalence
- Vanishing twin syndrome (VTS) occurs when one embryo in a multiple gestation pregnancy spontaneously disappears during early pregnancy
- Prevalence ranges from 15-35% of twin pregnancies identified in the first trimester 2
- The phenomenon is primarily detected through ultrasound examination when a previously identified gestational sac or embryo is no longer visible on subsequent scans
Timing and Mechanism
- Most vanishing twin events occur in the first trimester, typically before 10 weeks gestation 3
- Three main physiological mechanisms of disappearance:
Risk Factors
- Advanced maternal age
- Increased number of embryos in multiple gestations
- In IVF pregnancies: higher number of embryos transferred 2
- The risk is higher in monochorionic twins due to their shared placental circulation and higher rate of complications 5
Clinical Presentation and Diagnosis
- Most cases are asymptomatic and discovered incidentally during routine ultrasound
- When symptomatic, the most common presentation is first-trimester vaginal bleeding with or without abdominal cramping 4
- Diagnosis is made through serial ultrasound examinations showing:
- Initial identification of multiple gestational sacs/embryos
- Subsequent disappearance of one or more embryos on follow-up ultrasound
- Continued development of the surviving fetus(es) 1
Clinical Implications
For the Surviving Fetus
- Controversial impact on perinatal outcomes:
- Some studies show increased risk for preterm birth and small-for-gestational-age neonates compared to singleton pregnancies
- Other studies demonstrate no significant difference in outcomes 2
- Higher risk of placental vascular and anatomic abnormalities in pregnancies with VTS 2
For Prenatal Testing
- VTS can affect the accuracy of noninvasive prenatal testing (NIPT)
- Cell-free DNA from the vanished twin may persist in maternal circulation, potentially causing false-positive results 6
- NIPT has shown to be effective for screening trisomy 21 in VTS pregnancies (positive predictive value of 50%), but results for trisomies 18 and 13 should be interpreted with caution 6
Management Considerations
- Caution is warranted when establishing viability of twins in early pregnancy due to the relatively common occurrence of vanishing twin 1
- When first-trimester bleeding occurs with ultrasound evidence of multiple gestations:
- Avoid therapeutic dilation and curettage until a follow-up sonogram confirms the status of all fetuses 4
- Continue monitoring with serial ultrasounds to assess the surviving fetus(es)
- Documentation of vanishing twin is important as it affects interpretation of subsequent prenatal screening tests and may influence pregnancy management 7
Key Pitfalls to Avoid
- Misdiagnosing threatened abortion in a singleton pregnancy when it's actually a vanishing twin event
- Performing unnecessary interventions based on first-trimester bleeding without complete ultrasound assessment
- Failing to document VTS, which can lead to misinterpretation of prenatal screening results
- Not considering the potential impact of VTS on the surviving pregnancy when planning prenatal care
Follow-up Recommendations
- For pregnancies with documented VTS:
- Continue routine prenatal care with appropriate monitoring
- Consider increased surveillance for growth restriction in the surviving fetus
- Interpret prenatal screening results with caution, particularly NIPT for trisomies 18 and 13
- Be aware of the potential for placental abnormalities at delivery