Xue Wan1,2, Linyan Li1,3, Zulin Liu1, Zhenhai Fan1,3, Limei Yu4,5. 1. Key Laboratory of Cell Engineering in Guizhou Province, Zunyi, Guizhou, China. 2. The Engineering Research Center of Zunyi Precision Medical Detection and Birth Defects Prevention and Control, Zunyi, Guizhou, China. 3. Guizhou Provincial Sub-center for Prenatal Diagnosis-Zunyi Medical University Hospital, Zunyi, Guizhou, China. 4. Key Laboratory of Cell Engineering in Guizhou Province, Zunyi, Guizhou, China. ylm720@sina.com. 5. Guizhou Provincial Sub-center for Prenatal Diagnosis-Zunyi Medical University Hospital, Zunyi, Guizhou, China. ylm720@sina.com.
Abstract
BACKGROUND: Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype. CASE PRESENTATION: We report two rare Han cases of RSA associated with balanced translocation of chromosomes. In case 1, a women who had had four spontaneous abortions, the karyotype was 46, XX, t (4;7) (q31;q22). In case 2, a women who had two spontaneous abortions and one stillborn fetus, the karyotype was 46, XX, t (3;15) (q12;p11.2), inv (5) (P13q13). The abnormal karyotype was not found in other chromosomes. CONCLUSIONS: It is very important that couples with more than two miscarriages be provided with chromosomal analysis. Referring couples for karyotyping will rule out or confirm possible hereditary etiology and the source of chromosomal abnormalities in recurrent miscarriages.
BACKGROUND: Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype. CASE PRESENTATION: We report two rare Han cases of RSA associated with balanced translocation of chromosomes. In case 1, a women who had had four spontaneous abortions, the karyotype was 46, XX, t (4;7) (q31;q22). In case 2, a women who had two spontaneous abortions and one stillborn fetus, the karyotype was 46, XX, t (3;15) (q12;p11.2), inv (5) (P13q13). The abnormal karyotype was not found in other chromosomes. CONCLUSIONS: It is very important that couples with more than two miscarriages be provided with chromosomal analysis. Referring couples for karyotyping will rule out or confirm possible hereditary etiology and the source of chromosomal abnormalities in recurrent miscarriages.
Authors: Daniel Gabbai; Avi Harlev; Michael Friger; Naama Steiner; Ruslan Sergienko; Andrey Kreinin; Asher Bashiri Journal: J Perinat Med Date: 2018-09-25 Impact factor: 1.901
Authors: G De Krom; Y H J M Arens; E Coonen; C M A Van Ravenswaaij-Arts; M Meijer-Hoogeveen; J L H Evers; R J T Van Golde; C E M De Die-Smulders Journal: Hum Reprod Date: 2014-11-28 Impact factor: 6.918