Polar body biopsy in the diagnosis of monogenic diseases: the birth of three healthy children.
BACKGROUND
For prospective parents at risk of transmitting a monogenic disease, polar body analysis is an option for pre-conception genetic diagnosis. In Germany, polar body analysis is currently performed in only two centers (Lübeck and Regensburg).


METHODS
The authors present a clinical series of 9 couples at risk for the transmission of a monogenic disease who underwent in vitro fertilization with polar body analysis.


RESULTS
Nine couples have undergone in vitro fertilization with polar body analysis at the center in Lübeck since 2004. Three healthy children were born after polar body analysis for mucopolysaccharidosis type I, incontinentia pigmenti, and cystic fibrosis. The decision to undergo in vitro fertilization with polar body analysis is not easy for prospective parents to take, even though it often follows years of emotional suffering. Treatment with the methods of reproductive medicine in general, and with polar body analysis in particular, can cause considerable physical and emotional stress.


CONCLUSIONS
For prospective parents in Germany at risk of transmitting a monogenic disease, polar body-based preimplantation diagnosis is an alternative to prenatal diagnosis and possible termination of pregnancy. The live birth rate per treatment cycle in this clinical series was 30%, which can be considered satisfactory. Nonetheless, most of the couples who did not achieve pregnancy after a first treatment cycle dropped out of treatment prematurely and did not go on to a second cycle.
Griesinger
Georg
G
Klinik für Frauenheilkunde und Geburtshilfe, Universität zu Lübeck, Lübeck, Germany. kinderwunsch@uk-sh.de
Bündgen
Nana
N
Salmen
Diana
D
Schwinger
Eberhard
E
Gillessen-Kaesbach
Gabriele
G
Diedrich
Klaus
K
D001706:Biopsy / Q000379:methods*; D001757:Blastomeres / Q000473:pathology*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000473:pathology*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods*