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Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly

2014-08-27 03:58:06 | BioPortfolio

Summary

This study will examine the experiences of parents who decided to continue a pregnancy after receiving a prenatal diagnosis of holopresencephaly (HPE). HPE results from a genetic defect that can cause facial abnormalities such as cleft lip and cleft palate, learning disabilities, muscle weakness, problems with digestion, sleep and muscle control, and other disabilities. The severity of symptoms varies greatly among affected children.

Parents whose child was diagnosed before birth with HPE may be eligible for this study. It involves a one-time interview that takes from about 45 to 60 minutes. The interview is conducted either in person or by telephone and consists of three parts, as follows:

1. The experience of receiving the diagnosis of HPE during the pregnancy < includes general questions such as when and how HPE was diagnosed, what kind of information the parent received, the parent's reaction to the diagnosis, what genetic counseling, if any, the parents received, and so forth.

2. Emotional and informational needs < includes questions about the parent's specific emotional and informational needs from the time of diagnosis until the baby's birth, and the parent's reactions to support that was given.

3. Questionnaire < includes questions about the parent and his or her child, such as the parent's age, gender, marital status, and religious background, the child's age, gender, medical problems, and so forth. The questionnaire will be completed verbally for telephone interviews and in writing for in-person interviews. The interview will be tape-recorded and will be kept confidential.

Information from this study will provide health professionals, including genetic counselors, more effective strategies for helping other parents who face similar prenatal diagnoses.

Description

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.

Study Design

N/A

Conditions

Holoprosencephaly

Location

National Human Genome Research Institute (NHGRI)
Bethesda
Maryland
United States
20892

Status

Completed

Source

National Institutes of Health Clinical Center (CC)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:58:06-0400

Clinical Trials [2 Associated Clinical Trials listed on BioPortfolio]

Clinical and Genetic Studies on Holoprosencephaly

This study will examine how holoprosencephaly (HPE) affects people, how they change over time, and what genes may be involved in the cause of the disorder. HPE is a defect of brain develop...

A Study of the Genetic Analysis of Brain Disorders

A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencepha...

PubMed Articles [5 Associated PubMed Articles listed on BioPortfolio]

Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, a...

"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpu...

Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.

Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenit...

Conditional ablation of the RFX4 isoform 1 transcription factor: Allele dosage effects on brain phenotype.

Regulatory factor X4 (RFX4) isoform 1 is a recently discovered isoform of the winged helix transcription factor RFX4, which can bind to X-box consensus sequences that are enriched in the promoters of ...

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

The utilization of next generation sequencing has been shown to accelerate gene discovery in human disease. However, our confidence in the correct disease-associations of rare variants continues to de...

Medical and Biotech [MESH] Definitions

Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.

Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES.

Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

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