Birth After Preimplantation Diagnosis of the Cystic Fibrosis △F508 Mutation by Polymerase Chain Reaction in Human Embryos Resulting From Intracytoplasmic Sperm Injection With Epididymal Sperm FREE

Jiaen Liu, MD; Willy Lissens, PhD; Sherman J. Silber, MD; Paul Devroey, MD, PhD; Ingeborg Liebaers, MD, PhD; André Van Steirteghem, MD, PhD

[+] Author Affiliations

Reprint requests to Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Brussels, Belgium (Dr Lissens).

JAMA. 1994;272(23):1858-1860. doi:10.1001/jama.1994.03520230068040

Text Size: A A A

Published online

Article

References

ABSTRACT

ABSTRACT | REFERENCES

Men with congenital bilateral absence of the vas deferens (CBAVD) have been regarded as presenting a mild form of cystic fibrosis (CF). In this article, we report a case of male-factor infertility, in which both partners are carriers of the △F508 mutation and the male partner has CBAVD. Microsurgical epididymal sperm aspiration (MESA) was performed to obtain spermatozoa; intracytoplasmic sperm injection (ICSI) was carried out on the oocytes since the motility of the spermatozoa was severely impaired; and embryo biopsy and a polymerase chain reaction (PCR) were carried out for preimplantation diagnosis of the CF △F508 mutation. Single-blastomere analysis was performed and indicated that two embryos were affected (homozygous △F508) and three embryos were carriers. After transfer of the latter three embryos, a singleton pregnancy was established. At amniocentesis, the △F508 carrier status of the fetus with a 46, XY karyotype was confirmed. A healthy boy was born and the presence of vasa deferentia, bilaterally, was confirmed. The CF sweat test was also normal. Successful fertilization can be obtained by combination of MESA and ICSI in patients with CBAVD. Preimplantation diagnosis of CF is indicated. Pregnancy and birth of normal children can ensue in such patients.

(JAMA. 1994;272:1858-1860)

REFERENCES

ABSTRACT | REFERENCES

Dumur V, Gervais R, Rigot JM, et al. Abnormal distribution of CF △F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet . 1990;;336:512.

Silber SJ, Ord T, Balmaceda J, Patrizio P, Asch R. Cystic fibrosis and congenital absence of the vas deferens. N Engl J Med . 1991;;325:65.

Anguiano A, Oates RD, Amos JA, et al. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA . 1992;; 267:1794-1797.

Gervais R, Dumur V, Rigot JM, et al. High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med . 1993;;328:446-447.

Patrizio P, Asch RH, Handelin B, Silber SJ. Aetiology of congenital absence of vas deferens: genetic study of three generations. Hum Reprod . 1993;;8:215-220.

Temple-Smith PD, Southwick GJ, Yates CA, Trounson AD. Human pregnancy by in vitro fertilization (IVF) using sperm aspirated from the epididymis. J In Vitro Fert Embryo Transf . 1985;; 2:119-122.

Silber SJ, Ord T, Borrero C, Balmaceda J, Asch R. New treatment for infertility due to congenital absence of the vas deferens. Lancet . 1987;;2:850-851.

Silber SJ, Ord T, Balmaceda J, Patrizio P, Asch R. Congenital absence of the vas deferens: the fertilizing capacity of human epididymal sperm. N Engl J Med . 1990;;323:1788-1792.

Smitz J, Van Den Abbeel E, Bollen N, et al. The effect of gonadotropin-releasing hormone (GnRH) agonist in the follicular phase on in-vitro fertilization outcome in normal ovulatory women. Hum Reprod . 1992;;8:1098-1102.

Van Steirteghem AC, Liu J, Joris H, et al. Higher success rate by intracytoplasmic sperm injection than by subzonal insemination: a report of a second series of 300 consecutive treatment cycles. Hum Reprod . 1993;;8:1055-1060.

Van Steirteghem AC, Nagy Z, Joris H, et al. High fertilization rates after intracytoplasmic sperm injection. Hum Reprod . 1993;;8:1061-1066.

Palermo G, Joris H, Devroey P, Van Steirteghem AC. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet . 1992;;340:17-18.

Liu J, Van Den Abbeel E, Van Steirteghem AC. The in-vitro and in-vivo developmental potential of frozen and non-frozen biopsied 8-cell mouse embryos. Hum Reprod . 1993;;8:1481-1486.

Liu J, Lissens W, Devroey P, Liebaers I, Van Steirteghem AC. Efficiency of polymerase chain reaction assay for cystic fibrosis in single human blastomeres according to the presence or absence of nuclei. Fertil Steril . 1993;;59:815-819.

Liu J, Lissens W, Devroey P, Van Steirteghem AC, Liebaers I. Efficiency and accuracy of polymerase chain reaction assay for cystic fibrosis allele △F508 in single cell. Lancet . 1992;;339:1190-1192.

Liu J, Lissens W, Devroey P, Van Steirteghem AC, Liebaers I. Polymerase chain reaction analysis of the cystic fibrosis △F508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier. Prenat Diagn . 1993;;13:873-880.

Tournaye H, Devroey P, Liu J, Nagy Z, Lissens W, Van Steirteghem AC. Microsurgical epididymal sperm aspiration and intracytoplasmic sperm injection: a new effective approach to infertility due to congenital absence of the vas deferens. Fertil Steril . 1994;;61:1045-1051.

Cystic Fibrosis Genotype/Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med . 1993;;329:1308-1313.

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal