DescriptionPreimplantation 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 syndromic monogenic, 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 tetrology 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 (spine ossification anomaly of the cervical vertebrae, and hemivertebra causing spine thoracic scoliosis), agenesis of the right kidney, adduction of thumbs and single umbilical artery were detected. Comparative Genomic Hybridization has shown normal results. The family opted for pregnancy termination due to substantial risk of serious handicap. Post-mortem investigation and X-ray imaging confirmed prenatal ultrasound findings. The final diagnosis still includes varios syndromic conditions and further molecular testing is planned. Some of differentials still are caused by unknown factors, among them VACTREL association, that stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
Patients and health care providers should be aware that negative preimplantation genetic test as well as normal NIPT results, does not exclude genetic or structural abnormalities in a child. Ultrasound examination in late 1st 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.. ". ". "
|Period||29 Mar 2023|
|Event title||RSU International Research Conference 2023: Knowledge for Use in Practice|
|Organiser||Rīga Stradiņš University|
|Location||Riga, LatviaShow on map|
|Degree of Recognition||International|