HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer.

AbstractOBJECTIVE:
We 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 REPORT:
A 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.
CONCLUSION:
Prenatal 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.
AuthorsChih-Ping Chen, Tung-Yao Chang, Yi-Yung Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
JournalTaiwanese journal of obstetrics & gynecology (Taiwan J Obstet Gynecol) Vol. 52 Issue 4 Pg. 575-9 (Dec 2013) ISSN: 1875-6263 [Electronic] China (Republic : 1949- )
PMID24411047 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
CopyrightCopyright © 2013. Published by Elsevier B.V.
Topics
  • Abortion, Eugenic
  • Adult
  • Cardiovascular Abnormalities (diagnostic imaging, genetics)
  • Digestive System Abnormalities (diagnostic imaging, genetics)
  • Embryo Transfer
  • Female
  • Fertilization in Vitro
  • Genetic Diseases, X-Linked (diagnostic imaging, genetics)
  • Humans
  • Hydrocephalus (diagnostic imaging, genetics)
  • Musculoskeletal Abnormalities (diagnostic imaging, genetics)
  • Pregnancy
  • Ultrasonography

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: