on invasive prenatal testing (NIPT) of fetal genetic disorders in maternal blood

Recruiting

Conditions: genetic disorders
10083624

Registration Number: NL-OMON50448

Lead Sponsor: Medisch Universitair Ziekenhuis Maastricht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 400

Inclusion Criteria

Pregnant women and their partners (18+) of which:
Group 1: the woman is pregnant after PGD for a chromosomal anomaly or monogenic
disorder
Group 2: the fetus is at risk for a chromosomal anomaly because of an adverse
result of regular NIPT testing (Dutch TRIDENT-1 or -2 study) for aneuploidy
with or without additional findings.
Group 3: the foetus is at high risk of having a de novo disorder on the basis
of ultrasonography findings and couple will undergo PND
Group 4: the fetus is at high risk of having inherited a dominant or recessive
disorder of his/her affected parent(s) and couple ask for conventional PND

General:
- the pregnant woman and partner are 18 years or older
- the pregnant woman has sufficient understanding of Dutch language and is
able to give informed consent.

Exclusion Criteria

- in the opinion of the treating physician psychological distress is so severe
that asking for participation is not safe.
- the pregnant woman is treated for a malignancy
- patients in group 1 (testing performed with only PCR or OnePGT for monogenic
disorders), group 3 and 4 will be excluded from this study if they do not opt
for NIPT (with/without additional findings) or PND (with at least a QF PCR of
chromosomes 13, 18, 21)

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- Develop a non-invasive prenatal test for chromosomal and monogenic<br /><br>abnormalities in the pregnant woman's blood.<br /><br><br /><br>Doest targeted/genome-wide molecular analysis of cell-free DNA or RNA indicate:<br /><br>- the presence or absence of fetal mutation (s) in maternal plasma<br /><br>- the presence of sufficient concentration of fetal DNA / RNA in maternal<br /><br>plasma to enable reliable diagnosis of monogenic disorders.<br /><br>- the presence of aneuploidies, structural abnormalities, and monogenic<br /><br>disorders<br /><br>- when and how the aberrant cells disappear during prenatal development </p><br>

Secondary Outcome Measures