on-invasive preimplantation genetic testing (niPGT) - haplotyping by sequencing embryo spent culture medium

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 317

Inclusion Criteria

Group inclusion criteria:
To be eligible to participate in this study, a couple must meet all of the
following criteria:
Couples that have or are carrier of a known severe genetic disorder that choose
to do in vitro fertilization (IVF) following preimplantation genetic testing
(PGT-IVF). Inclusion criteria of couples are similar to inclusion criteria from
PGT that are the following:
o The offspring have a high risk on inheriting a severe genetic disorder (as
nationally determined by national indication committee); PGT-M.
o There is a high risk of miscarriage due to an unbalanced translocation or a
high risk of an ongoing pregnancy of a child with an unbalanced translocation
(PGT-SR).
• Couples meet the requirements for IVF.
• The comprehensive, sequencing-based haplotyping analysis will be used for
analysis of PGT-M
• The VeriSeq PGS analysis method is used for PGT-SR.

Sample inclusion criteria:
• Oocytes are successfully fertilized and develop into d3 embryos or
blastocysts (d5/6/7 embryos).
• Embryos are successfully biopsied and the conventional PGT result is
conclusive.
• Spent culture medium samples from the PGT-IVF embryos could be collected and
stored.

Exclusion Criteria

Group exclusion criteria:
A potential subject who meets any of the following criteria will be excluded
from participation in this study.
• Couples unable to give informed consent to any of the study aspects or unable
to comply with the protocol
o When participants are < 18 years
o Couples that do not speak Dutch will be excluded from participation in this
study.
• IVF/PGD treatment for a mitochondrial disorder (linked to mtDNA).
• The analysis of the embryos is done using a day 3 biopsy and subsequent
fluorescence in situ hybridization (FISH) analysis.
• The analysis of the embryo is done using the PCR-based STR marker analysis
method.
• It is technically not possible to test the preimplantation embryo for the
genetic disorder, as determined by the preparation tests for PGT.

Sample exclusion criteria:
A potential sample who meets any of the following criteria will be excluded
from participation in this study.
• A specific sample will be excluded for analysis when not enough (< 10 µl) or
no spent culture medium of the embryo could be collected. In case of no spent
culture medium, the other SCM samples from the same PGT couple will still be
analyzed.