Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second trimester
Xiaoqing Wu,
Shengrong Du,
Bin Liang,
Linjuan Su,
Ying Li,
Yuqin Chen,
Lin Zheng,
Na Lin,
Hailong Huang,
Liangpu Xu
Affiliations
Xiaoqing Wu
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China; Department of Laboratory Medicine, Fujian Medical University, Fuzhou, Fujian, China; Key Laboratory of Clinical Laboratory Technology for Precision Medicine (Fujian Medical University), Fujian Province University, Fuzhou, Fujian, China
Shengrong Du
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China
Bin Liang
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China
Linjuan Su
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China
Ying Li
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China
Yuqin Chen
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China
Lin Zheng
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China; Department of Laboratory Medicine, Fujian Medical University, Fuzhou, Fujian, China
Na Lin
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China; Corresponding author. Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, No.18 Daoshan Road, Fuzhou City, Fujian Province, 350001, China.
Hailong Huang
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China; Department of Laboratory Medicine, Fujian Medical University, Fuzhou, Fujian, China; Corresponding author. Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, No.18 Daoshan Road, Fuzhou City, Fujian Province, 350001, China.
Liangpu Xu
Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China; Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China; Department of Laboratory Medicine, Fujian Medical University, Fuzhou, Fujian, China; Corresponding author. Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, No.18 Daoshan Road, Fuzhou City, Fujian Province, 350001, China.
Prenatal diagnosis is crucial for pregnancies from couples with a carrier of a balanced translocation. We retrospectively reviewed 195 pregnancies from 189 couples with a balanced translocation carrier. Of these, 126 were from natural conception, while 69 were conceived through assisted reproductive technology (ART) with preimplantation genetic diagnosis (PGD). Both single nucleotide polymorphism (SNP) array analysis and conventional karyotyping were conducted on all pregnancies, and karyotype-visible imbalances and pathogenic/likely pathogenic copy number variations (CNVs) were categorized as clinically significant abnormalities. In natural conception group, couples with a female carrier experiencing more than two miscarriages accounted for 30.2 %, significantly higher than the 14.0 % in male carrier couples (p < 0.05). In the PGD group, similar difference was observed between female and male carrier couples (p < 0.05). In the natural pregnancies, SNP array analysis yielded additional 12 cases of CNVs, including two cases of pathogenic (P)/likely pathogenic (LP) aberrations, four variants with uncertain significance (VUS), and six likely benign variants. Only two CNVs were found to be associated with translocation breakpoints, which were finally confirmed to be of parental inheritance. In the PGD pregnancies, two cases of VUS unrelated to the translocation breakpoints were revealed. Taken together, repeated miscarriage was more frequently observed in couples where the carrier was female than male. Conventional SNP array analysis in prenatal diagnosis indicated insufficient evidence to support the notion that balanced translocations increase the likelihood of fetuses having clinically significant CNVs.
