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Information about Vanishing Twin Syndrome

What is Vanishing Twin Syndrome?


Vanishing Twin Syndrome (VTS), also known as twin embolisation syndrome or fetal resorption, is a term given
to a condition when one of the fetuses in a twin pregnancy is lost as the result of miscarriage. The affected fetus
is partially or completely reabsorbed by its twin and thereby vanishes. VTS may occur in twin pregnancies but
also other multi-gestation pregnancies.

What are the effects of VTS on the mother and surviving twin?
If the loss occurs within the first trimester, neither the remaining fetus nor the mother will exhibit clinical signs or
symptoms. The prognosis of the surviving twin is usually excellent, but depends on the specific factors that
contributed to the loss of the other twin.
If the twin is lost in the second or third trimester, there are increased risks to the surviving fetus. This could
include a higher rate of cerebral palsy and a threat to the continuation of the pregnancy.
When a twin is lost after the embryonic period of gestation (eight weeks), the water within the twins tissues, the
amniotic fluid and the placental tissue may be reabsorbed. This results in the flattening of the deceased twin from
the pressure of the surviving twin. At delivery, the deceased fetus may be identified as fetus compressus
(compressed enough to be noticed) or as fetus papyraceous (flattened through loss of fluid and most of the soft
tissue).

What causes VTS?


The cause of VTS is frequently unknown. Abnormalities that result in the vanishing twin appear to be present
from early in development rather than from a sudden occurrence. Analysis of the placenta and/or fetal tissue
frequently reveals chromosomal abnormalities, while the surviving twin is usually normal. This has implications
for the NIFTY test (please see below). The exact frequency of VTS is not known but a conservative estimate is
that VTS occurs in around 20-30% of multi-fetal pregnancies.

How does VTS affect the NIFTY test?


The NIFTY test works by analyzing cell free fetal DNA (cffDNA) in the maternal blood and identifying any
chromosomal abnormality. In a pregnancy which has been affected by VTS, it is therefore theoretically possible
that cffDNA from the vanished fetus could be detected instead of from the surviving twin. In the event that the
vanished fetus was affected by a chromosomal abnormality, a false positive result would be obtained (assuming
that the surviving twin had no chromosomal abnormality itself). This could potentially result in the mother
undergoing an otherwise unnecessary invasive diagnostic procedure such as amniocentesis.

NIFTY test guidelines for pregnancies affected by VTS.


Today, with the availability of early ultrasounds, the presence of twins or multiple fetuses can be detected during
the first trimester and a follow-up ultrasound may reveal the disappearance of a twin. In the case of pregnancies
identified as affected by VTS, we advise that the NIFTY test should only be carried out if VTS has been
identified before week 8 of pregnancy. After week 8, levels of cffDNA originating from the vanished fetus may
be high enough to adversely affect the NIFTY test result.
If VTS is confirmed as having occurred before week 8 of pregnancy, the NIFTY test is then able to be
carried out from the 8th week after the confirmation (For instance, VTS happened on week 6, then NIFTY
can be performed on week 14). We allow this time-gap in order for any remaining cffDNA from the vanished
fetus to exit the maternal blood stream.
With a validated false positive rate of 0.1%, the chances that VTS affects the NIFTY test have already been
proven to be statistically very small.

The information in this leaflet is for reference purposes only. Sources available on request.
Please contact info@niftytest.com or call +45 80 300 800 for more information.
Always consult a qualified healthcare provider regarding which genetic testing options are right for you.

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