Chromosome Testing and Reproductive Genetics

  Ms. W had 2 pregnancies, both of which were terminated due to embryonic abortion. Ms. W’s husband is a chromosomal balanced ectopic carrier, although his phenotype is normal, only 1/18 of his offspring can form a normal karyotype and 1/18 can form a balanced ectopic individual, and these two karyotypes can lead to normal pregnancy and delivery; while 16/18 can form a chromosomal partial deletion or The above two karyotypes can lead to normal pregnancy and delivery, while 16/18 can form partial chromosome deletion or duplication and lead to miscarriage. The doctor informed Ms. W and her husband that they could select normal embryos through third-generation in vitro fertilization (PGS) or choose donor insemination, and they chose the latter and had a healthy live birth.  Ms. and Mrs. W. were able to identify the cause of recurrent miscarriage through chromosomal testing and genetic counseling and received clinical guidance. So, which patients need reproduction-related genetic testing and genetic counseling? In general, chromosome testing is routinely recommended for couples with recurrent miscarriage, conception or delivery of chromosomally abnormal children, or for couples who intend to undergo in vitro fertilization for assisted conception, and for some couples who require eugenics before conception. Couples or offspring with significant chromosomal or genetic abnormalities detected need reproduction-related genetic counseling and a fertility plan.  Genetic counseling is a process to help patients understand and adapt to the role of genetic factors in disease and its medical, psychological and family implications. For reproductive medicine, it is primarily a process to assess the risk of genetic abnormalities in the offspring and to provide fertility guidance, which is done by a professional genetic counselor. After genetic counseling, patients can understand the risk of genetic diseases in their offspring and know whether primary or secondary prevention of the disease can be achieved through assisted reproduction or prenatal testing.