VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer |
| |
Authors: | Chih-Ping Chen Tung-Yao Chang Yi-Yung Chen Schu-Rern Chern Jun-Wei Su Wayseen Wang |
| |
Institution: | 1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan;2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan;3. Department of Medicine, Mackay Medical College, New Taipei City, Taiwan;4. Department of Biotechnology, Asia University, Taichung, Taiwan;5. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;6. Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan;7. Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan;8. Taiji Fetal Medicine Center, Taipei, Taiwan;9. Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan;10. Department of Bioengineering, Tatung University, Taipei, Taiwan |
| |
Abstract: | ObjectiveWe present a case of VACTERL association with hydrocephalus (VACTERL-H) in a fetus conceived by in vitro fertilization (IVF) and embryo transfer (ET) and review the literature.Case reportA 35-year-old woman presented with multiple fetal anomalies at 22 weeks of gestation. She and her husband were non-consanguineous and there was no family history of congenital malformations. This was her second pregnancy conceived via IVF-ET. Two embryos had been implanted and only one survived. She underwent chorionic villus sampling at 17 weeks of gestation because of oligohydramnios and advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY, and array comparative genomic hybridization analysis revealed no genomic imbalance. Prenatal ultrasound at 21 weeks of gestation revealed a singleton with fetal biometry equivalent to 18 weeks, ventriculomegaly, a small cerebellum, and a ventricular septal defect. Level II ultrasound showed a single umbilical artery, scoliosis, a right club hand, radial aplasia, and renal agenesis. The parents elected to terminate the pregnancy at 22 weeks of gestation, and a fetus was delivered with bilateral arthrogryposis, right radial aplasia, a club hand and thumb aplasia, hypoplasia of the left thumb, scoliosis, and an imperforate anus. The clinical findings were consistent with the diagnosis of VACTERL-H. Molecular analysis of PTEN, FANCB, and HOXD13 genes revealed no mutation.ConclusionPrenatal diagnosis of radial ray defects in fetuses conceived by assisted reproductive technology should include a differential diagnosis of VACTERL association with anorectal malformation. VACTERL-H may occur in pregnancy after IVF-ET. |
| |
Keywords: | assisted reproductive technology hydrocephalus prenatal diagnosis VACTERL association |
本文献已被 ScienceDirect 等数据库收录! |
|