Preimplantation genetic testing does not guarantee a birth of healthy baby

Preimplantation genetic testing (PGT) comprises a group of genetic assays used to evaluate embryos before transfer to the uterus. But unfortunately, the normal chromosomal profile of transferred embryo does not exclude the possible syndromicmonogenic, multifactorial conditions or anatomical abnormalities in the fetus, that can be discovered by ultrasound examination during the first and early second trimesters, giving the opportunity for the family to decide whether to continue the pregnancy or terminate it.
We present a case of multiple fetal anomalies that were revealed after single embryo transfer, tested for chromosomal abnormalities by NGS in primigravida woman.
During the first trimester screening tetralogy of Fallot was suspected and confirmed at 17+1 weeks by extensive echocardiography. NIPT test was performed, demonstrating low risk for selected microdeletions. On week 17 additionally, skeletal abnormality (hemivertebra causing thoracic scoliosis), horseshoe kidney, adduction of thumbs and single umbilical artery were detected.
Comparative Genomic Hybridisation has shown normal results. The family opted for pregnancy termination due to substantial risk of serious handicap. Postmortem investigation and X-ray imaging confirmed prenatal ultrasound findings. The final diagnosis still includes various syndromic conditions and further molecular testing is planned. Some of differentials still are caused by unknown factors, among them VACTREL association. Patients and healthcare providers should be aware that a “normal” or negative preimplantation genetic test as well as normal NIPT results, does not exclude genetic or structural abnormalities in a child. Ultrasound examination in late first trimester is mandatory to enable a timely detection of fetal development aberration. Technical improvements in diagnostic ultrasound and knowledge progress in prenatal diagnostics is boosting the understanding of many fetal disorders.