A woman, who had been married for 4 years without pregnancy, went to hospital for primary infertility in November 2018. She had regular menstruation and underwent hysterosalpingography which indicated that both fallopian tubes were unobstructed. After cytogenetic examination, the clinical diagnosis was: primary infertility, oligoasthenospermia, chromosome abnormality 46, XY, t (14; 16)(q24; P13.3). The husband was a chromosome balanced translocation carrier, which was inherited from his mother. After genetic counseling, the doctor recommended the couple to try IVF. Both partners had no abnormalities in the pre-ART examination. After the informed consent was signed, ICSI was performed after ovulation induction. The embryos were cultured until the fifth day, and nine embryos were selected for PGT-SR. 5ml of peripheral blood was extracted from the couple, and haplotype analysis was used to distinguish embryos of balanced translocation. Finally, four embryos were completely normal diploid embryos. After morphological evaluation, the embryo rated 4BB was selected for implantation. Amniocentesis was performed at 18 weeks of gestation and the prenatal diagnosis results were consistent with the embryo test results. The fetus had no chromosome abnormalities. On December 22, 2019, she gave birth to a male baby weighing 6.3 kg at 39 weeks and 2 days of pregnancy.
Preimplantation Genetic Testing For Structural Rearrangement
Basecare geneticists will work closely with your fertility care team to secure sample cells for testing, and provide you with a detailed report and access to a genetic counselor to help you understand the test results. PGT-SR is a genetic test that can determine whether embryos created through IVF with the incorrect chromosome number or structure. PGT-SR allows your fertility experts to confidently transfer only one embryo at a time and can greatly improve the chance of a successful pregnancy.
Who benefits form PGT-SR?
People who had a child or pregnancy with a chromosome rearrangement
People who are carriers of Inversion, Reciprocal translocation and Robertsonian translocation
A mature platform
Based on different detection platforms, haploid analysis models have been established to carry out translocation discrimination and obtained industrialized results.
No pre-experiment is needed, and only one detection and analysis are needed after sample collection, which is very suitable for clinical detection.
It is suitable for genetic and non-genetic translocation families without referencing multiple discarded embryos.
Haploid, triploid and uniparental diploid abnormalities that are difficult to be detected by ordinary sequencing methods can be detected.
High success rate
It boasts genome wide SNP coverage and high success rate.