Triploid pregnancies: genetic and clinical features of 158 cases.

Abstract:

OBJECTIVE:The purpose of this study was to analyze the correlation between the genetic constitution and the phenotype in triploid pregnancies. STUDY DESIGN:One hundred fifty-eight triploid pregnancies were identified in hospitals in Western Denmark from April 1986 to April 2010. Clinical data and karyotypes were collected retrospectively, and archived samples were retrieved. The parental origin of the genome, either double paternal contribution (PPM) or double maternal contribution (MMP) was determined by an analysis of methylation levels at imprinted sites. RESULTS:There were significantly more PPM than MMP cases (P < .01). In MMP cases, the possible karyotypes had similar frequencies, whereas, in PPM cases, 43% had the karyotype 69,XXX, 51% had the karyotype 69,XXY, and 6% had the karyotype 69,XYY. Molar phenotype was seen only in PPM cases. However, PPM cases with a nonmolar phenotype were also seen. For both parental genotypes, various fetal phenotypes were seen at autopsy. Levels of human chorionic gonadotropin in maternal serum were low in MMP cases and varying in PPM cases, some being as low as in the MMP cases. CONCLUSION:In a triploid pregnancy, suspicion of hydatidiform mole at ultrasound scanning, by macroscopic inspection of the evacuated tissue, at histology, or because of a high human chorionic gonadotropin in maternal serum level each predict the parental type PPM with a very high specificity. In contrast, the sensitivity of these observations was <100%.

journal_name

Am J Obstet Gynecol

authors

Joergensen MW,Niemann I,Rasmussen AA,Hindkjaer J,Agerholm I,Bolund L,Sunde L

doi

10.1016/j.ajog.2014.03.039

subject

Has Abstract

pub_date

2014-10-01 00:00:00

pages

370.e1-19

issue

4

eissn

0002-9378

issn

1097-6868

pii

S0002-9378(14)00249-X

journal_volume

211

pub_type

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