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.
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.
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
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