Chromosomal and monogenic disorders
Conditions
Interventions
Observation group:None
Sponsors
Beijing Obstetrics and Gynecology Hospital, Capital Medical University
Eligibility
Sex/Gender
Female
Age
20 Years to No maximum
Inclusion criteria
Inclusion criteria: a. Pregnant women aged 12-22+6 b. Pregnant women over the age of 20; c. Single pregnancy; d. Agree to participate in this clinical trial and accept at least one molecular diagnosis (such as Prenatal testing, abortion diagnosis or Cord blood diagnosis); e. <15% of high-risk pregnant women who need Prenatal testing, including the following situations: prenatal ultrasound shows abnormal fetal structural development; Prenatal screening such as serology indicates high risk; Applicability of other suspected Genetic disorder (such as unexplained Recurrent miscarriage, etc.); Or if the father is over 40 years old.
Exclusion criteria
Exclusion criteria: a. Pregnant women<12+0 weeks or under 20 years old; b. Have received allogeneic blood transfusion, transplantation, allogeneic cell therapy, etc. within one year; c. Having a family history of recessive monogenic diseases indicates a high risk of fetal disease; d. Pregnancy with malignant tumors; e. Twin and multiple pregnancies; f. Due to embryo/fetal suspension, multiple or twin pregnancies (natural or artificial) are reduced to single pregnancies; g. Pregnant women are known carriers of diseases within the scope of testing; h. Doctors think that Prenatal testing is necessary or other circumstances that significantly affect the accuracy of the results.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Sensitivity;Specificity; | — |
Secondary
| Measure | Time frame |
|---|---|
| Detection rate;Positive predictive value;Negative predictive value; | — |
Countries
China
Contacts
Public ContactYin Chenghong
Beijing Obstetrics and Gynecology Hospital, Capital Medical University
Outcome results
None listed