Turner syndrome and its complications, hydrops and cystic hygroma, can produce alterations in maternal serum biochemical markers used in screening for Down's syndrome and neural tube defects (NTD). The authors report the case of a 37-year-old pregnant woman, screened for Down's syndrome and NTD in the second trimester of pregnancy. The maternal serum alpha-fetoprotein (MSAFP) level was increased and the test was considered screen positive for NTD. A three-dimensional ultrasound investigation was performed, but no fetal or placental anomalies were found, indicating a case of unexplained increased msafp. In the third trimester severe oligohydramnios and disturbances in uteroplacental arterial circulation developed, requiring corticosteroid therapy and premature cesarean section at the 34th week of gestation. The female newborn was transferred to a neonatal ICU and tetralogy of Fallot and Turner syndrome were diagnosed. This case prompted the authors to review the literature on maternal serum biochemical markers in Turner syndrome and congenital heart defects and to propose a protocol for unexplained increased MSAFP.
Turner syndrome; Alpha-fetoprotein; Tetralogy of Fallot; Fetal malformations