38 year old Mrs B married for 7 years gave us a family history of Hypertension and Ischemic Heart Disease. Her partner 40 years of age has a family History of Motor Neuron Disease and Ischemic Heart Disease. She came to us after trying naturally for 7 years unfortunately without any previous pregnancies. She underwent IVF with a conventional flexible antagonist Stimulation Protocol where 10 oocytes were collected , 10 MII ,10 Fertilized 2PN , Day 5 – 5AA and 1BB Blasts were formed which were cryopreserved. She had 2 transfer cycles and both the times conceived but unfortunately had Preterm Deliveries at 6 months and 7 months and the babies did not survive.
She underwent another Conventional IVF cycle and we cryopreserved 6 Blastocysts. Fresh Embryo transfer of a single good grade Blastocyst was done in a Surrogate this time, which resulted in a positive pregnancy. Unfortunately in the anomaly scan a congenital anomaly was noted and Fetal Blood Sampling was done which revealed low grade and tissue specific mosaicism. A second Surrogate frozen Embryo Transfer of single Blastocyst was done. Unfortunately she had a 9 weeks missed miscarriage and products of conception were sent for analysis which showed Deletion on Chromosome X with mosaic loss on entire X chromosome.
Karyotyping of the couple revealed male partner having normal analysis and the female partner was diagnosed with pericentric inversion of Chromosome 9 at p11q13 region and large satellite on chromosome 15.
PGS by NGS was done on the Day 5 cryopreserved embryos which revealed out of 4 embryos sent only 1 was Normal. Surrogate Transfer with 1 Blastocyst (PGS screened) was done which led to a positive pregnancy test (Beta-HCG – 487.21).