單一病例報告顯示染色體鑲嵌化(chr 13,21)之胚胎植入後仍可能產出染色體正常寶寶

J Assist Reprod Genet. 2017 Jun 24. doi: 10.1007/s10815-017-0974-7. [Epub ahead of print]

Mosaic embryo transfer after oocyte in vitro maturation in combination with non-invasive prenatal testing (NIPT)-first report of a euploid live birth.

Inoue N1, Lopez R2, Delgado A3, Nuñez D1, Portella J1, Noriega-Hoces L1,3, Guzmán L4,5.

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Abstract

PURPOSES:

The purpose of this study is to describe a healthy life birth after a mosaic embryo transfer in oocyte in vitro maturation (IVM).

METHODS:

Patient received minimal stimulation, starting on day 3 after menstrual period. No hCG trigger was administered. Oocyte retrieval was performed and oocytes were matured for 30 h. After denuding, mature oocytes were inseminated by ICSI. Embryos were cultured until blastocyst stage and biopsied.

RESULTS:

One euploid embryo after array comprehensive genome hybridization (aCGH) was diagnostic. However, the next-generation sequencing (NGS) re-analysis showed that embryo was a mosaic for chromosome 13 and 21. Nevertheless, pregnancy ultrasound scans and non-invasive prenatal test (NIPT-Verifi-Illumina) indicated a normal fetus development. Finally, a healthy baby was born after 38 weeks. Its weight was 4480 g, head circumference 36 cm, and total length of 51 cm. To confirm that the baby was chromosomically normal, an NGS test was performed in buccal cells, a normal profile was obtained.

CONCLUSIONS:

Our finding confirmed that mosaic embryo transfer would bring a healthy offspring.