First Trimester Diagnosis of VACTERL Association
A 20-year-old primigravid, Caucasian woman was referred to our Fetal Medicine Unit at 11 weeks’ gestation for first trimester aneuploidy screening. Maternal blood sampling for β-HCG and PAPP-A measurement was performed on the first appointment at 11 weeks.\nThere was no relevant personal or family medical history or exposure to any known teratogen. She was under no medication, except folate supplementation. The couple was nonconsanguineous.\nAbdominal ultrasound performed at 13 weeks of amenorrhoea revealed an intrauterine gestational sac containing a live fetus with a crown-rump length of 53 mm. A detailed sonographic examination detected caudal dysplasia with hypoplastic lower limbs () as well as an intra-abdominal cystic formation (), which was thought to correspond to the gastric bubble. The differential diagnosis of caudal regression and VACTERL association was considered.\nThe risk for aneuploidies, based on ultrasound and biochemical markers, was low (Trisomy 21 – 1:21163, Trisomy 13/18 – 1:37147).\nRegardless the uncertainty of the definitive diagnosis, the poor prognosis was discussed and the couple opted for medical termination of pregnancy, which was performed using a combined regimen of oral Mifepristone and vaginal Misoprostol. The procedure had no reported complications. A vaginal ultrasound was performed after fetal expulsion and confirmed uterine vacuity.\nThe fetal patho-histological study confirmed the sonographic findings and revealed additional multiple malformations: low-set ears, hypoplastic unilobated lungs, absent spleen, hypertrophic pyloric stenosis with marked stomach distension (), horseshoe dysplastic and cystic kidney with a single ureter, rudimentary bladder, bilateral intraabdominal testes, urethral and anal atresia, distended bowel, recto-perineal fistula and ambiguous genitalia. Craniosynostosis, hydrocephalus and coloboma were not observed in fetal autopsy.\nAsymmetric lower limbs were also noticed, with absent foot and rudimentary leg on the left and syndactyly (lobster claw malformation) of the right foot ( and ).\nPlacental study revealed nonspecific changes with increased fibrin deposits and lateral insertion of the umbilical cord, which had three vessels. Placental weight and maturity were considered appropriate for the gestational age (). No other alterations were found in the umbilical cord or placenta.\nFetal karyotype was normal (46 XY).\nFetal x-ray revealed absent sacral and lower lumbar vertebrae, absent lower limb bones on the left and hypoplastic right femur and tibia as well as absent right fibula. Absent pelvic bones on the left and hypoplastic on the right were also reported ().