Fetal disorder
Conditions
Interventions
None listed
Sponsors
Samura Osamu
Eligibility
Sex/Gender
Female
Inclusion criteria
Inclusion criteria: The following criteria must be met by all participants: (1) Pregnant women between 10 weeks and less than 37 weeks gestation (2) Couples where both partners are 18 years of age or older at the time of consent acquisition, and where consent was obtained from both partners after receiving sufficient information and understanding the significance of the tests included in this study during genetic counseling (3) When clinically definitive testing (amniocentesis or chorionic villus sampling) is presented as an option If one or more of the following conditions apply: 1One or more morphological abnormalities detected by fetal ultrasound (-1-) 2 Confirmed chromosomal structural abnormalities, such as balanced translocations, in either member of the couple (-2-) 3 Pregnancy achieved following transfer of a mosaic embryo identified by preimplantation genetic testing for aneuploidy (PGT-A) or preimplantation genetic testing for structural abnormalities (PGT-SR) 4A history of giving birth to a child with a chromosomal disorder (-1-) Ultrasound findings that clearly indicate a significantly increased risk of a chromosomal disorder and are deemed relevant to decisions regarding fetal treatment, early postnatal treatment, or delivery facility selection (-2-) The genetic mother and father of the fetus
Exclusion criteria
Exclusion criteria: (1) If genetic counseling is not received before and after genome-wide non-invasive prenatal testing (2) In cases of triplet or higher-order pregnancies (3) If the pregnant woman herself has been diagnosed with a malignant tumor and has not been completely cured (4) If the pregnant woman herself has a chromosomal duplication or deletion (5) If the pregnant woman herself has received an organ transplant
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| (1) Positive predictive value, indeterminate rate, negative predictive value (2) Proportion of copy number variations among positives, excluding trisomies 13, 18, and 21, such as deletions/duplications of approximately 7 Mb or larger (3) Positive predictive value for each chromosomal disorder (for deletions/duplications, positive predictive value by region size) (4) Number of cases requiring definitive testing (e.g., chorionic villus sampling, amniocentesis) and number of definitive tests performed | — |
Secondary
| Measure | Time frame |
|---|---|
| (1) Number of cases deemed eligible for research and provided with genetic counseling, number of research participants, and factors for cases not undergoing genome-wide non-invasive prenatal testing (2) Factors for non-reportable results, false positives, and false negatives in test results (evaluated based on analysis results from the fetus, placenta, and mother) (3) Proportion of positive cases confirmed by definitive testing as having deletions, duplications, or chromosomal aneuploidy, and its association with fetal disorders (4) Proportion of maternal blood fetal whole-genome quantitative testing results requiring deliberation for interpretation and identification of challenges in managing these cases (Number of cases handled and deliberation content by the Prenatal Genetic Testing Expert Panel) | — |
Contacts
Public ContactYuki Ito
The Jikei University School of Medicine
Outcome results
None listed