Choosing the best Non-Invasive Fetal Evaluation
When choosing a genetic screening test, patients have many choices. First, patients should understand that all genetic testing is optional and what is done with the information obtained is a very personal decision for each patient. Genetic screening tests are meant to be safe and accurate. Currently there are many Non-Invasive options available, but what is clear is that combined testing with both Ultrasound (to evaluate for fetal birth defects) and blood testing (for either placental hormone levels or the presence of abnormal numbers of chromosomes) will provide the most accurate Non-invasive fetal evaluation.
It is important to understand that Ultrasound and blood testing evaluate for different fetal problems. Chromosomal abnormalities account for ~ 1% of the fetal abnormalities and birth defects, both minor and major account for ~ 3-5% of fetal abnormalities. It is important in any screening program to have a combined, and early approach to fetal evaluation. Choosing a blood test without an early ultrasound could result in missing a major fetal problem and result in a delay in diagnosis. Selecting ultrasound without blood testing would not provide the most accurate assessment for chromosomal and placental evaluation.
Concise genetic counseling will help patients in choosing the best combined fetal evaluation. The best approach considers patient preferences, patient history and age as well as other risk factors. Generally, for low risk women the combined First Trimester Nuchal Translucency with Free Beta HCG and PAPP A is accepted and NIPT (non-invasive prenatal blood testing) is available for increased accuracy for down syndrome. For women at high risk, detailed first trimester ultrasound with NIPT, free Beta HCG/PAPP A blood testing would provide the most comprehensive fetal anatomic, chromosomal and placental evaluation.
Choosing these comprehensive combined evaluations by 10-12 weeks allows for early diagnosis of chromosomal problems, severe birth defects and placental abnormalities.
All the physicians and sonographers at MFAMA are experts in detailed First trimester fetal anatomy and evaluation. In addition, the physicians and genetic counselors provide detailed genetic counseling and follow up.