Dichorionic twin fetuses with VACTERL association

Abstract

Although prenatal diagnosis of VACTERL (vertebral defects, anal atresia, cardiac anomaly, tracheal-esophageal fistula with esophageal atresia, renal defects, and radial limb dysplasia) association is not always possible, ultrasonography and magnetic resonance imaging can visualize some of the characteristic findings of this condition. Because infants with this condition usually require significant surgical treatment and care, prenatal detection with those imaging modalities should assist in proper planning for delivery and anticipated care of the neonate. In this report, we present dichorionic twin fetuses, both of whom were found postnatally to have this condition, and suggest the possible relationship between this disorder and intracytoplasmic sperm injection. As far as we know, this is the first report of twin fetuses affected by VACTERL association.

Prenatal diagnosis of the VACTERL association using routine ultrasound examination

“…In the present study, anal atresia was not detected using routine ultrasound examination in accordance with reports published in the literature (Claiborne et al, ; Gembruch and Hansmann, ; McGahan et al, ; Baarsma et al, ; Tongsong et al, ; Miller and Kolon, ; Krapp et al, ; Ardiet et al, ; Chen et al, ; Sunagawa et al, ; Camacho et al, ; Gedikbasi et al, ; Athwal et al, ; Kanasugi et al, ). However, related clinical signs, such as bowel dilatation or intraluminal meconium calcification, might lead to suspect this diagnosis (Brantberg et al, ).…”

“…In the present study, a single umbilical artery was reported in seven cases whereas it was reported in five cases in the literature (Tongsong et al, ; Krapp et al, ; Sunagawa et al, ; Gedikbasi et al, ). Discovery of a single umbilical artery may be the first clue to diagnose a wide range of anomalies, as it may be isolated or associated with a variety of multiple congenital malformations (Murphy‐Kaulbeck et al, ).…”

“…Also genitourinary anomalies are often associated with anorectal malformations (Solomon, ; Solomon et al, b). Finally their frequency appears to be higher among prenatally detected VACTERL cases (Gembruch and Hansmann, ; McGahan et al, , Baarsma et al, ; Tongsong et al, ; Miller and Kolon, ; Krapp et al, ; Ardiet et al, ; Sunagawa et al, ; Camacho et al, ; Kanasugi et al, ). In the postnatal group, genitourinary fistulas and rectovaginal or urethrorectal fistulas were frequently observed as reported previously (Solomon et al, ).…”

Twin reversed arterial perfusion (TRAP) sequence in association with VACTERL association: a case report

“…VACTERL association is a relatively common, non-random complex malformation disorder with an incidence of 0.4-1.6 in every 10,000 births [4]. VACTERL association is classically defined as the presence of at least three of the following anomalies: vertebral defects (V), anal atresia (imperforate anus) (A), congenital heart lesions (C), tracheoesophageal defects (TE), renal and distal urinary tract anomalies (R) and limb lesions (L).…”

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

“…In all, 206 pairs are described in the literature up until now; however, information on zygosity is less thorough. [9][10][11][12][13][14][15][16] Orford et al 15 stated that at least 80% of reported EA twins are same-sex pairs. In total, 22 out of these 206 twin pairs are concordant for the EA phenotype.…”