Author: Dr. Ritu Hari





Couple XY, (35 year old female, 38 year old male, MF- 6 years), both heterozygous for XP , came for genetic evaluation. They had a history of consanguineous marriage. Patient P1L1A1 , first pregnancy was spontaneously conceived, outcome was a male baby with FTVD ,I year after birth , baby developed skin pigmentation & photophobia. Now the baby is 5 year old. Second pregnancy was also spontaneously conceived in 2017, it was a twin pregnancy with DCDA twins, prenatal testing was done at Amrita institute, Cochin, & both fetuses were found homozygous for XPC gene, most common gene for XP, Hence MTP was done at 5 months. Couple was also evaluated at the same time, both were detected to be heterozygous variants for XP. Couple came to craft hospital for an opinion. After a thorough discussion with geneticist , plan for ICSI +PGT-M+Frozen ET was made. Pre PGD work up was done. Targeted variant analysis of selected XPC gene was done by PCR using customized primers & by bidirectional Sanger sequencing. Patient herself was a case of Diminished Ovarian Reserve (DOR) hence plan for oocyte accumulation done. COS outcomes (diag).First ICSI was done in June 2019, through which 10 embryos were formed , which included 4 Day 3, 5 Day 5 & 1Day 6 embryo. The embryos were subjected to PGT-M in view of couple history of XP. Out of 10 embryos , 2 came out to be normal, 5 affected, 2 were carriers & 1 undiagnosed.


FET was done on 15 July 2020, 2 D5 embryos (1*2BA,1*2BC), one normal & other carrier was transferred as the couple insisted. Viability scan was done which showed a single alive I/U fetus of 6 weeks 4 days. At 13 weeks NT was done which was low risk, Pt was given option of Amniocentesis but couple refused, hence NIPT was done which was low risk. The couple delivered a healthy baby free from xeroderma pigmentosa mutation.

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