Abstract | OBJECTIVE: 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.
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Authors | Chih-Ping Chen, Tung-Yao Chang, Yi-Yung Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang |
Journal | Taiwanese journal of obstetrics & gynecology
(Taiwan J Obstet Gynecol)
Vol. 52
Issue 4
Pg. 575-9
(Dec 2013)
ISSN: 1875-6263 [Electronic] China (Republic : 1949- ) |
PMID | 24411047
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
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Copyright | Copyright © 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
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