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EP16.08: Sibling recurrence of congenital venous system anomaly with normal karyotype presenting increased nuchal translucency thickness: a case report
Author(s) -
Nagamatsu T.,
Fujii T.,
Kubota K.,
Hashimoto A.,
Shitara R.,
Sayama S.,
Seyama T.,
Nakayama T.,
Iriyama T.,
Kumasawa K.,
Osuga Y.,
Fujii T.
Publication year - 2019
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.21419
Subject(s) - medicine , ductus venosus , amniocentesis , fetus , pregnancy , abnormality , anastomosis , heterotaxy , sibling , prenatal diagnosis , cardiology , surgery , obstetrics , heart disease , psychology , developmental psychology , genetics , biology , psychiatry
Case A primiparous women at age 32 was referred to our hospital for abnormal fetal finding of increased NT (6mm) in the first trimester. Chorionic villus sampling at 14 wks demonstrated normal karyotype. At 23 wks, abnormal dilatated vessel was detected in the dorsal side of the left atrium. (Fig1,2) In repeated sonographic examinations, AVD and umbilical vein-coronary sinus anastomosis were diagnosed. The mother delivered a male baby (3066g, Aps 8/9) at 39 wks. Except for extended hyperbilirubinemia, the postnatal course of the boy was stable without circulatory problem. The woman was conceived again at age 36. Increased NT (6.5mm) was confirmed as in her previous pregnancy. Normal karyotype was demonstrated in the amniocentesis. At 33 wks, abnormality of pulmonary vein was suspected under ultrasonography (Fig 3). She delivered a male baby (2480g, Aps 8/8) at 38 wks. Infracardiac TAPVR in the neonate was finally diagnosed. Cardiac surgery was conducted on day 15 after birth and the postoperative course was well. Figure 1,2. Lacking in connection between the umbilical vein and the inferior vena cava. An atypical vessel (arrow) coursing from the portal vein (arrowhead) flowed into the coronary sinus in the fetus of the first pregnancy.

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