Completed

The Experiences and Needs of Parents Continuing a Pregnancy Following Abnormal Prenatal Results: The Case of Holoprosencephaly

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What is being collected

Data Collection

Who is being recruted

Abnormalities, Multiple+9

+ Musculoskeletal Abnormalities

+ Musculoskeletal Diseases

See all eligibility criteria
How is the trial designed

Observational
Study Start: March 2000
See protocol details

Summary

Principal SponsorNational Human Genome Research Institute (NHGRI)
Last updated: March 4, 2008
Sourced from a government-validated database.Claim as a partner

Study start date: March 1, 2000

Actual date on which the first participant was enrolled.

Holoprosencephaly (HPE) is a condition that when found prenatally offers parents a poor but often uncertain prognosis for their baby. Parents that continue the pregnancy given this diagnosis are left to endure the remainder of the pregnancy and the ambiguity involved in this highly variable condition. Previous studies have examined the psychological and social impact of prenatal diagnosis on parents and the outcomes of the pregnancy in conditions such as Down syndrome and sex chromosome abnormalities. Because the majority of parents receiving abnormal prenatal information terminate their pregnancies, most studies have focused on these parents' experiences, specifically the mothers'. However, little is known about the experiences of parents (both fathers and mothers) continuing a pregnancy given abnormal prenatal information especially in highly variable conditions such as HPE. In this study, the experiences and needs of parents who received the diagnosis of HPE prenatally will be explored. Study participants will be drawn from several sites that include an existing molecular diagnostic protocol for HPE at the University of Pennsylvania, clinical patients seen at the University of Michigan, HPE family resources, and an upcoming conference on HPE to be held in April of 2000. Through semi-structured interviews, fathers and mothers of children with HPE who were diagnosed prenatally will be asked to talk individually about their experiences of receiving the diagnosis and continuing with the pregnancy. Their perceived informational, emotional and supportive needs at that time will be explored. In addition, their thoughts on the health care professionals' role in meeting these needs will be discussed. A brief questionnaire following the interview will gather quantitative data to serve as descriptors of the population and to help interpret the qualitative findings. The questionnaire includes demographic questions as well as a scale measuring tolerance for ambiguity and questions regarding the parent's perceived severity of their child's diagnosis of HPE. Interviews will be analyzed qualitatively through thematic analysis. Specifically, recurring themes that emerge from interview transcripts will be analyzed for content and patterns. In addition, descriptive statistics will be applied to the questionnaire data and will be used to aid in the interpretation of the qualitative findings. An exploration of the experiences and needs of fathers and mothers who receive the diagnosis of HPE prenatally will offer a better understanding for health care professionals, specifically genetic counselors, regarding their role in working with parents continuing a pregnancy given prenatal information about a fetal anomaly.

NCT00005016
Principal SponsorNational Human Genome Research Institute (NHGRI)
Last updated: March 4, 2008
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details

30 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Abnormalities, MultipleMusculoskeletal AbnormalitiesMusculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNervous System MalformationsNervous System DiseasesCraniofacial AbnormalitiesChromosome DisordersGenetic Diseases, InbornAgenesis of Corpus CallosumCongenital AbnormalitiesHoloprosencephaly

Criteria

Parents, both fathers and mothers, of a child with HPE if they received their child's diagnosis of HPE prenatally either through ultrasound or prenatal testing such as CVS or amniocentesis. Must have continued pregnancy after HPE diagnosis. Must be over the age of 18. Will not be excluded on the basis of single-parent status or of refusal of one parent to participate.

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

National Human Genome Research Institute (NHGRI)

Bethesda, United StatesOpen National Human Genome Research Institute (NHGRI) in Google Maps
CompletedOne Study Center