Morphogenetic assessment of the fetus using ultrasound in the first trimester of pregnancy. Can we save money and time?

A. C. Martin, D. Iliescu, S. Tudorache, A. Comanescu, M. Ioana, A. Cimpoeru, F. Mixich, P. Antsaklis, L. Novac, N. Cernea, A. Stan, A. Antsaklis

Abstract: The purpose of our study was to reconsider the complete diagnostic protocol in some selected cases,highly suspected after first trimester anatomical and biochemical evaluation. We used the three-year data from a first trimester morphologic and genetic prospective study conducted in three university clinics. We considered the first trimester (11-14 gestational weeks) morphological and biochemical findings in the affected singleton pregnancies. The diagnostic of the chromosomal abnormalities was made using quantitative fluorescence polymerase chain reaction (QF-PCR) and multiplex ligation-dependent probe amplification (MLPA) techniques after chorionic villous sampling (CVS) and the genetic results were confirmed by karyotyping. Results. In the vast majority of the cases multiple first trimester morphological markers were found in association to chromosomopaties (90.9%). In almost half of the cases (45.4%) more than six anatomical features were found abnormal and also the biochemical risk was increased. In these cases, the genetic techniques were concordant with the ultrasound morphological presumptive diagnosis. In all these patients we noted a high degree of anxiety related to the time needed for completion of genetic assessment. We consider that an alternative approach in certain socio-economic settings is termination of pregnancy (TOP) followed by genetic diagnostic in cases with ultrasound evaluation revealing typical morphological/functional features for genetic syndromes and altered serum biochemistry.
Keywords: first trimester scan, combined test, fetal morphology, genetic markers