Outcome of Children with Marked Changes in Maternal Screening Tests and Normal KaryotypeKai Muru1,2#, Mari-Anne Vals1,3#, Mari Sitska2, Karin Asser4, Pille Tammur2, Olga Zilina2,5, Tiia Reimand1,2,6 and Katrin Ounap1,2*
- *Corresponding Author:
- Katrin Ounap
Department of Genetics
Tartu University Hospital
2 L. Puusepa Street, Tartu 51014, Estonia
Tel: 372 7 319 490
Fax: + 372 7 319 484
E-mail: [email protected]
Received date December 04, 2013; Accepted date: December 24, 2013; Published date: December 26, 2013
Citation: Muru K, Vals MA, Sitska M, Asser K, Tammur P, et al. (2013) Outcome of Children with Marked Changes in Maternal Screening Tests and Normal Karyotype. Hereditary Genet 3:123. doi: 10.4172/2161-1041.1000123
Copyright: © 2013 Muru K, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.