出生前に診断しえたVATER連合を伴った18‐trisomyの1例

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  • Case report: Prenatal diagnosis of trisomy-18 with the VATER association.

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The VATER association is a complex of multiple malformations, which may be an alteration in the mesodermal differentiation, rarely complicated with 18-trisomy. The patient (a 28-year-old Japanese female, nullipara, 31 weeks of gestation) was referred to our hospital due to premature labor, intrauterine growth retardation and hydroamnios. We suspected the VATER association from the findings of esophageal atresia, radial dysplasia, oligodactyly, single umbilical artery and univentricular heart by amniofetography and ultrasonography. The diagnosis of trisomy-18 was comfirmed by amniotic chromosomal examination. She was delivered vaginaly of a child in the 35 weeks of gestation. The apgar score of the 1372g female newborn at 1 and 5 min. were 1 and 2, respectively. After the birth, the diagnosis of truncs arteriosus was added. The infant died the next day. [Adv Obstet Gynecol 51 (4); 333 - 336, 1999 (H11.7)]

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