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

NCT00005016 | Completed

• 2 other identifiers: 00010400-HG-0104
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief 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. 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. 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. 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.

Conditions

Holoprosencephaly

Keywords

Fetal Anomaly; Genetic Counseling; Prenatal Diagnosis; Psychosocial Issues; Qualitative; HPE; Holoprosencephaly

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Beeson D, Golbus MS. Decision making: whether or not to have prenatal diagnosis and abortion for X-linked conditions. Am J Med Genet. 1985 Jan;20(1):107-14. doi: 10.1002/ajmg.1320200113. No abstract available.

  PMID: 3970063 BACKGROUND

• Chitty LS, Barnes CA, Berry C. Continuing with pregnancy after a diagnosis of lethal abnormality: experience of five couples and recommendations for management. BMJ. 1996 Aug 24;313(7055):478-80. doi: 10.1136/bmj.313.7055.478. No abstract available.

  PMID: 8776321 BACKGROUND

• Drugan A, Greb A, Johnson MP, Krivchenia EL, Uhlmann WR, Moghissi KS, Evans MI. Determinants of parental decisions to abort for chromosome abnormalities. Prenat Diagn. 1990 Aug;10(8):483-90. doi: 10.1002/pd.1970100802.

  PMID: 2267225 BACKGROUND

MeSH Terms

Conditions

Holoprosencephaly; Congenital Abnormalities

Condition Hierarchy (Ancestors)

Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Agenesis of Corpus Callosum; Nervous System Malformations; Nervous System Diseases; Abnormalities, Multiple; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: April 4, 2000
• First Posted: December 10, 2002
• Study Start: March 1, 2000
• Study Completion: February 1, 2001
• Last Updated: March 4, 2008

Record last verified: 2000-03

Locations

US (1)