Génétique héréditaire : recherche actuelle

Abstrait

Outcome of Children with Marked Changes in Maternal Screening Tests and Normal Karyotype

Kai Muru, Mari-Anne Vals, Mari Sitska, Karin Asser, Pille Tammur, Olga Zilina, Tiia Reimand and Katrin Ounap

Objective: To investigate whether chromosomally normal fetuses with marked changes in maternal serum markers and first trimester ultrasound NT marker have an increased risk of congenital anomalies or delayed development at 2 years of age. Methods: Screening tests of 5257 pregnant women were analyzed during a one-year period. Significant changes in biochemical and/or ultrasound markers were documented in 138 pregnant women, whereas positive risk calculation for chromosomal anomalies was evident in 74 of them, who were included in our study. Postnatal study group included 35 children born from mothers with marked changes in screening tests. Results: Among the 74 pregnant women, a structural or genetic abnormality was diagnosed in 16 cases (21.6%), fetal death occurred in 12 cases (16.2%) and child was healthy at the age of 2 years in 31 cases (41.9%). In 3/4 of the cases, a pathology was diagnosed prenatally, while the remaining 1/4 were discovered postnatally. Four children had with congenital anomalies and/or syndromes: two had congenital heart disease – atrial septal defect and ventricular septal defect with patent ductus arteriosus, one Silver-Russell syndrome and one congenital adrenal hyperplasia. It was not possible to get the final information about outcome in 15 cases (20.3%). Conclusions: Children born to these mothers should be actively followed by a pediatrician or clinical geneticist for additional investigations after birth as they have a risk of 5.4% of having a congenital or genetic abnormality.