Family Study on Preeclampsia



Status:Completed
Conditions:Women's Studies
Therapuetic Areas:Reproductive
Healthy:No
Age Range:Any
Updated:4/21/2016
Start Date:January 2005
End Date:September 2006

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A Familial Genetic Study on Preeclampsia: A Pilot Study

This study will examine a possible genetic basis for preeclampsia, a disorder of high blood
pressure and protein in the urine during pregnancy. Preeclampsia is a major pregnancy
complication affecting both mother and baby. Previous research has shown that preeclampsia
tends to run in certain families. This study will determine which genes may be involved in
preeclampsia.

Women who have had preeclampsia (called the index woman) may be eligible for this study.
They will be recruited through the Preeclampsia Foundation. In addition, the following
relatives of the index woman may be enrolled:

- The child from the preeclampsic pregnancy

- The index woman's biological parents

- The index woman's siblings who have given birth or fathered a child and their family
members

The study will exclude any index women or family members who have had chronic hypertension,
diabetes, polycystic ovary syndrome, or whose pregnancy that involved preeclampsia was a
multiple fetus pregnancy or that was conceived through use of fertility technology.

All women participants fill out a questionnaire to collect demographic data (e.g., age,
race, marital status, etc.) and information on their medical and reproductive history, use
of tobacco and medicines, and other factors that may be associated with preeclampsia
syndrome. Women who have had preeclampsia or hypertension in pregnancy are asked to sign a
medical record release form for study investigators to obtain a copy of the medical record
for that pregnancy. All male and female participants provide a mouthwash rinse sample for
extraction of DNA for gene studies. For babies too young to rinse with mouthwash, a soft
brush is used to brush the inside of the mouth to collect cheek cells.

Mouthwash samples are analyzed for genes that may be associated with preeclampsia.

Preeclampsia is a syndrome of hypertension accompanied by proteinuria. It is a major
pregnancy complication, associated with premature delivery, fetal growth restriction,
abruptio placentae, and fetal death, as well as maternal morbidity and mortality. Although
preeclampsia has been recognized for centuries, the etiology of this disorder remains
unknown. Familial clustering of preeclampsia has long been identified, leading to the
concept of a genetic basis for this syndrome. We propose a familial genetic study of
preeclampsia. As such a study is often difficult to do, we plan to conduct a pilot study to
test the feasibility, logistics and examine frequency of genetic polymorphism of certain
genes in the target population.

A total of 50 women who had preeclampsia during their first pregnancy will be identified
through the Preeclampsia Foundation. Women who had chronic hypertension or diabetes prior to
the first pregnancy will be excluded. We also will try to enroll their family members to
this study. All subjects will be asked to complete a self-administered questionnaire and
collect mouth wash samples. Women who reported having hypertension during pregnancy will be
asked to sign a medical record release form. A copy of the medical record will be obtained
to confirm the diagnosis of preeclampsia. DNA will be extracted from buccal cells. Frequency
of polymorphisms for a number of candidate genes (e.g., HLA-G, AGT, eNOS, MTHFR, IL-1 beta,
TNF-alpha, Prothrombin, and Factor V Leiden) will be examined. Information and experience
gained from this pilot study will be most valuable for use to plan a main study.

- INCLUSION CRITERIA:

Women who have had documented severe preeclampsia or eclampsia in their first pregnancy in
the past 10 years will be potentially eligible for this study.

Through the index woman, we will invite her biological parents, siblings who have given
birth or fathered a child and their family members to participate in this study.

EXCLUSION CRITERIA:

Excluded will be those who had chronic hypertension, diabetes, polycystic ovary syndrome,
or the index pregnancy was a multifetal gestation or conceived by assisted reproductive
technology.
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