1. To evaluate the consequences of the diagnosis of a sexchromosomal abnormality during routine prenatal diagnostic testing, in the course of which the experiences of the parents and professionals involved will be noted.2.To determine if it would be…
ID
Source
Brief title
Condition
- Other condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Health condition
foetale geslachtsbepaling
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1.Did these parents desire to know the fetal sex after amniocenteses in week 15
of the pregnancy?
2.Were these parents willing to wait 4 weeks to know the fetal sex when sex
determination would be performed by ultrasound examination in week 20 of the
pregnancy?
3.How have they experienced the consequences of the diagnosis of a
sexchromosomal abnormality during routine prenatal diagnostic testing?
4.How do they look back on the events and how is their general quality of life
at this moment?
5. What is the opinion about this specific problem of the professionals
involved?
Secondary outcome
Factors associated with the parents* desire to know the sex of their baby.
(ref Shipp, 2004)
Background summary
At this moment, routine prenatal invasive tests in pregnancies at risk for Down
syndrome automatically result in fetal sex determination. Pregnant women
undergoing amniocenteses have the option to know the sex of their unborn baby
after invasive testing even though there is no medical reason for one.
Detection of sex chromosomes with karyotyping or molecular testing (MLPA) often
leads to unexpected findings. The phenotype of most sex chromosome aneuploidy
cases is usually mildly affected; the risk for sexual development problems is
increased, but most individuals fall in the normal range of development, and
marked abnormality is not usually seen. Unexpected findings of the sex
chromosomes or sex chromosomal mosaicisms present the prospective parents with
a very difficult personal decision whether to continu or terminate the
pregnancy.
With molecular testing, like the recently diagnostic implemented MLPA test, the
possibilty arises to exclude the sex chromosomal targets in the test. Exclusion
of the sex chromosomes in prenatal molecular testing results in a decrease of
unexpected findings concerning the sex chromosomes.
For prospective parents fetal sex determination before birth is still possible
with a prenatal ultrasound examination. In the Dutch prenatal screening
programme, the fetal anomaly scan is routinely performed in week 20 of the
pregnancy. Compared with fetal sex determination after amniocenteses, parents
will have to wait 4 weeks to know the sex of their baby. Fetal sex detemination
after prenatal invasive testing can potentially be replaced by the fetal
anomaly scan.
The consequences of the diagnosis of a sexchromosomal abnormality as a
co-finding during routine prenatal diagnostic testing will be evaluated.
Study objective
1. To evaluate the consequences of the diagnosis of a sexchromosomal
abnormality during routine prenatal diagnostic testing, in the course of which
the experiences of the parents and professionals involved will be noted.
2.To determine if it would be preferable to provide fetal gender determination
by a non-invasive procedure (ultrasound) as opposed to gender determination by
invasive prenatal testing.
Study design
Retrospective qualitative study by semi-structured interviews and the
administration of a validated Quality of Life Scale to parents who have been
confrontated with a sexchromosomal abnormailty as a co-finding in a prenatal
diagnostic procedure.
Professionals, who are in any way involved in these invasive diagnostic
procedures, will be asked their opinion about above mentioned problem of a
sexchromosomal abnormality as a co-finding and the specific problems this
brings along for the parents involved.
Study burden and risks
An interview during 60-90 minutes, with the completion of a standardised
questionnaire.
In the unexpected case, that talking about these events may bring up grieve, we
will provide adequate psychological support.
Geert Grooteplein 10
6500 HB Nijmegen
Nederland
Geert Grooteplein 10
6500 HB Nijmegen
Nederland
Listed location countries
Age
Inclusion criteria
Parents that have undergone an invasive prenatal diagnostic test in the last 15 years in the Nijmegen region because of maternal age or to exclude other serious chromosomal anomalies, who were faced with a fetal sex chromosomal abnormality as a co-finding in the karyotyping procedure.
Exclusion criteria
. Patients with a clear risk at a sex chromosomal abnormality, because of an earlier child with this same problem.
. Patients with insufficient fluency in Dutch.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL21572.091.08 |