The outcome of structural heart defects diagnosed in the first trimester of pregnancy

We present the results of a detailed protocol of fetal heart examination in the first trimester, in a fetal medicine unit in Romania.

Since October 2009, in Filantropia Hospital in Bucharest, we have systematically assessed pregnancies at 11-14 weeks to screen for aneuploidies and for major fetal structural defects. The fetal anatomy examination protocol included the detailed assessment of the fetal heart. This was performed using the same principles as for the second trimester examination, in the entire cohort.

Our population consisted of 7693 patients and 7816 embryos. The protocol for the ultrasound evaluation of the fetal heart was completed for 7597 embryos (97.2%). The outcome is known for 6912 cases (90.9%). We diagnosed 39 heart defects - 30 in the first trimester, seven in the second trimester, two postnatally. Twenty of the 39 heart defects were isolated cardiac malformations. Twelve of the isolated heart defects were diagnosed in the first trimester. The sensitivity of the first trimester ultrasound in identifying major heart defects was 76.92%. The overall survival in cases of isolated congenital heart disease diagnosed in the first trimester was significantly lower than the survival in the cases diagnosed in the second trimester.

Many (76.92%) of the significant heart defects can be diagnosed by ultrasound examination, in the first trimester. Our study is an argument for developing the multidisciplinary approach needed for the management of early detected structural heart disease.