title: Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees.
abstract: Robertsonian translocations 13/14 are the most common chromosome rearrangements in humans. However, most studies aimed at determining risk figures are more than 20 years old. Their results are often contradictory regarding important topics in genetic counseling such as infertility and unfavorable pregnancy outcomes. Here, we present a study on a sample of 101 previously unreported pedigrees of der(13;14)(q10;q10). In order to minimize problems of partial ascertainment, we included families with a wide range of reasons of ascertainment such as birth of a child with congenital anomalies, prenatal diagnosis due to maternal age, fertility problems and recurrent pregnancy loss. No evidence of increased infertility rates of female and male carriers was found. The detected miscarriage frequency of female carriers was higher than previously reported (27.6 +/- 4.0% of all spontaneous pregnancies). This may be explained by an over-correction of earlier studies, which excluded all unkaryotyped miscarriages. In three out of 42 amniocenteses, translocation trisomies 13 were diagnosed (7.1 +/- 4.0% of all amniocenteses). The frequency of stillbirths was 3.3 +/- 1.6% for female carriers and 1.4 +/- 1.4% for male carriers. A low risk for the live birth of translocation trisomy 13 children was confirmed since no live born children with trisomy 13 or Pätau syndrome were detected in the ascertainment-corrected sample.
authors.affiliation: Institute of Human Genetics, Bonn, Germany. hartmut.engels@ukb.uni-bonn.de
authors.forename: Hartmut
authors.initials: H
authors.lastname: Engels
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.forename: Almut
authors.initials: A
authors.lastname: Caliebe
authors.forename: Anna
authors.initials: A
authors.lastname: Jelska
authors.forename: Regine
authors.initials: R
authors.lastname: Schubert
authors.forename: Herdit M
authors.initials: HM
authors.lastname: Schüler
authors.forename: Barbara
authors.initials: B
authors.lastname: Panasiuk
authors.forename: Jacek
authors.initials: J
authors.lastname: Zaremba
authors.forename: Anna
authors.initials: A
authors.lastname: Latos-Bieleńska
authors.forename: Lucjusz
authors.initials: L
authors.lastname: Jakubowski
authors.forename: Klaus P
authors.initials: KP
authors.lastname: Zerres
authors.forename: Gesa
authors.initials: G
authors.lastname: Schwanitz
authors.forename: Alina T
authors.initials: AT
authors.lastname: Midro
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D005307:Fertilization in Vitro; D005817:Genetic Counseling; D006801:Humans; D007246:Infertility / Q000235:genetics*; D007621:Karyotyping; D010375:Pedigree; D011247:Pregnancy; D011256:Pregnancy Outcome; D050497:Stillbirth / Q000235:genetics*; D014178:Translocation, Genetic