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Triploidy is a rare lethal chromosomal (aneuploidic) abnormality caused by the presence of an entire extra chromosomal set.
It is considered the 3rd commonest fatal chromosomal anomaly 7. While it is thought to affect as much as 1-2% of conceptions, the vast majority are thought to undergo spontaneous abortions in the early intrauterine period.
The serological markers can vary depending on whether the extra set of chromosomes are maternally (digynic) or paternally (diandric) derived.
maternally-derived triploidy: markedly decreased
paternally-derived triploidy: markedly increased
maternally-derived triploidy: mildly decreased
paternally-derived triploidy: markedly decreased
The occurrence of triploidy is considered sporadic. A fetus with triploidy has 69 chromosomes. This can happen in three ways:
failure of the division of meiosis I or II in spermatocyte: extra set of paternal chromosomes
failure of the division of meiosis I or II in oocyte: extra set of maternal chromosomes
dispermy: double fertilisation of the ovum with two sperms
In ~60-75% of cases, the extra set is paternally derived (diandric triploidy). The reported chromosomal compositions are
In some cases, there can be diploid/triploid mosaicism.
Sonographic features of pregnancies complicated by fetal triploidy are not uniform and the diagnosis cannot be made by ultrasound alone
However common features include:
second trimester-onset (early) fetal intrauterine growth restriction (IUGR) with a reduced growth potential pattern of anthropometric growth
body asymmetry with relative macrocephaly and an elevated head: abdominal circumference ratio (HC > AC)
syndactyly: tends to affect the 3rd and 4th digits of the hands
Not part of a routine investigation and most fetuses are not liveborn. Reported features according to one study were 5 :
small anterior fontanelle
Treatment and prognosis
Triploidy is incompatible with life and most fetuses miscarriage in the 1st trimester. Extremely rare cases with survival a few months into postnatal life have been reported 6. Since most cases are sporadic, the risk of recurrence is, usually, not increased.
maternal: development of pre-eclampsia
Considerations on early ultrasound scans include:
partial mole: some consider this term to be synonymous with triploidy