Live birth following preimplantation genetic screening for trisomy 21. Should aneuploidy screening be offered to all older patients undergoing IVF?

[monosomy 21]

A 42 -year -old female patient with history of secondary infertility was referred to our assisted conception unit for in vitro fertilization (IVF ). Before her referral , she had two cycles of IVF at another centre ; the first was unsuccessful and , after conceiving at the second attempt , the pregnancy was terminated at 14 weeks ' gestation following a positive nuchal translucency scan and a diagnosis of trisomy 21 (Down syndrome ) by a chorionic villous biopsy performed in the first trimester . The screening tests for trisomy 21 were offered to the patient in view of her advanced age . Subsequent karyotyping revealed that both partners had a normal chromosomal complement . Following genetic counselling , the couple were offered IVF treatment along with preimplantation genetic screening for trisomy 21 . Four of the five embryos were suitable for biopsy , and one blastomere from each embryo was analyzed using fluorescent in situ hybridization for chromosome 21 . The analysis revealed that two embryos had trisomy 21 , one had monosomy 21 , and only one embryo was diploid for chromosome 21 . The single diploid embryo was transferred to the uterus on day 3 , and resulted in an uneventful pregnancy and delivery of a healthy live-born male .

Diseases
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Diseases presenting "secondary infertility" symptom

monosomy 21

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