Successful Embryo Transfer and Pregnancy with Donated Egg in a Female with Severe FXIII Deficiency and Climacterium Praecox

Introduction Inherited FXIII deficiency is a rare autosomal recessive coagulation disorder caused by genetic defects predominantly in the F13A1 gene. Females with severe deficiency have a high risk of miscarriage without FXIII treatment. In this study, we report a case of successful pregnancy after an egg donation in a female with premature climacterium praecox.

Materials and Methods FXIII activity was measured with a photometric assay. F13A1 and F13B genes were screened by direct sequencing.

Results and Discussion Severe FXIII deficiency was diagnosed in a patient after her birth due to umbilical stump bleeding. Her family history was unknown (adopted child). No serious bleeding events occurred under prophylactic treatment with plasma-derived FXIII concentrate (pdFXIII) to date. Screening of the F13A1 gene showed a previously described homozygous single nucleotide insertion (c.1201insC) in exon 9. The patient was not able to conceive a child because of climacterium praecox (age at the time of diagnosis: 32). Hormonal stimulation with insemination was not successful in many approaches. In vitro fertilization (IVF) failed due to absence of ovulation. Pregnancy with the own egg cell was not possible. In October 2017, the patient made the decision to initiate pregnancy with a donated egg. Prophylaxis with 2,500 IU (50 IU/kg of bw) of pdFXIII was done every 3 weeks after the start of the hormonal treatment. In addition, she received 2,500 IU prior to embryo transfer and 72 hours after embryo transfer, followed by weekly substitutions (2,500 IU) for 2 weeks. The pregnancy failed. The second embryo transfer, performing the same FXIII treatment intensity, was started in July 2018. After a positive pregnancy test (14 days after embryo transfer), the prophylaxis continued weekly with 1,250 IU (trough levels >50%). Starting from the 18th week of gestation, the dosage of pdFXIII was followed with 2,500 IU and 1,250 IU in exchange, due to decreasing FXIII trough levels (<50%). During pregnancy, apart from pregnancy-associated diabetes, no further complications or bleeding occurred. Initiation of the birth was done at the 40th week of gestation. Prior to delivery, she received 2,500 IU of pdFXIII (FXIII trough level: 78%). Because of a birth standstill, a caesarian section was performed, after additional FXIII substitution with 1,250 IU. A healthy boy was delivered. Because of insufficient uterus contractions, the patient experienced an atonic postpartum hemorrhage directly after section. Additional substitution with 1,250 IU of pdFXIII was performed daily until the dismissal from hospital (3 days after section). Two weeks after dismissal, a regular prophylaxis every 4 weeks proceeded.

Conclusion This case demonstrated a successful embryo transfer and pregnancy in a patient despite of climacterium praecox and severe FXIII deficiency requiring regular substitutions with FXIII concentrate.

Publication History

Article published online:
13 November 2020