Research output: Contribution to Journal/Magazine › Journal article › peer-review
Research output: Contribution to Journal/Magazine › Journal article › peer-review
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TY - JOUR
T1 - Familial recurrent hydatidiform mole
T2 - a review
AU - Fisher, Rosemary A.
AU - Hodges, Matt
AU - Newlands, Edward S.
PY - 2004/8
Y1 - 2004/8
N2 - This article reviews published data on familial recurrent hydatidiform mole with particular reference to the genetic basis of this condition, the likely outcome of subsequent pregnancies in affected women and the risk of persistent trophoblastic disease following molar pregnancies in these families. Familial recurrent hydatidiform mole is characterized by recurrent complete hydatidiform moles of biparental, rather than the more usual androgenetic, origin. Although the specific gene defect in these families has not been identified, genetic mapping has shown that in most families the gene responsible is located in a 1.1 Mb region on chromosome 19q13.4. Mutations in this gene result in dysregulation of imprinting in the female germ line with abnormal development of both embryonic and extraembryonic tissue. Subsequent pregnancies in women diagnosed with this condition are likely to be complete hydatidiform moles. In 152 pregnancies in affected women, 113 (74%) were complete hydatidiform moles, 26 (17%) were miscarriages, 6 (4%) were partial hydatidiform moles, and 7 (5%) were normal pregnancies. Molar pregnancies in women with familial recurrent hydatidiform mole have a risk of progressing to persis-tent trophoblastic disease similar to that of androgenetic complete hydatidiform mole.
AB - This article reviews published data on familial recurrent hydatidiform mole with particular reference to the genetic basis of this condition, the likely outcome of subsequent pregnancies in affected women and the risk of persistent trophoblastic disease following molar pregnancies in these families. Familial recurrent hydatidiform mole is characterized by recurrent complete hydatidiform moles of biparental, rather than the more usual androgenetic, origin. Although the specific gene defect in these families has not been identified, genetic mapping has shown that in most families the gene responsible is located in a 1.1 Mb region on chromosome 19q13.4. Mutations in this gene result in dysregulation of imprinting in the female germ line with abnormal development of both embryonic and extraembryonic tissue. Subsequent pregnancies in women diagnosed with this condition are likely to be complete hydatidiform moles. In 152 pregnancies in affected women, 113 (74%) were complete hydatidiform moles, 26 (17%) were miscarriages, 6 (4%) were partial hydatidiform moles, and 7 (5%) were normal pregnancies. Molar pregnancies in women with familial recurrent hydatidiform mole have a risk of progressing to persis-tent trophoblastic disease similar to that of androgenetic complete hydatidiform mole.
KW - Hydatidiform mole
KW - pregnancy
KW - molar
KW - familial recurrent hydatidiform mole
M3 - Journal article
VL - 49
SP - 595
EP - 601
JO - Journal of Reproductive Medicine
JF - Journal of Reproductive Medicine
IS - 8
ER -