ACMG 2016 Update on Noninvasive Prenatal Testing for Fetal Aneuploidy: Implications for India

AbstractACMG 2016 guidelines for noninvasive prenatal screening (NIPS) are examined in the Indian context, and recommendation made for their adoption. Currently in India, NIPS is not a test that can or should be offered directly to patients. Proper pre-test counseling is essential, during which, the different options should be explained so that the patients can choose the test most appropriate for their situation. NIPS has a greater detection rate than other screening methods (like biochemical screening or ultrasound markers of aneuploidy), and can be performed in place of conventional screening for Patau, Edwards, and Down syndromes, if the patient can afford the cost, and the ultrasound does not show a malformation that is not a part of aneuploidies. The NIPS should be performed at 12  weeks of gestation or later, to reduce ‘no calls’ due to low fetal fraction. In samples that contain less than 4% fetal fraction the confidence in the report is reduced. Testing for sex chromosomes can be included, as these abnormalities are associated with unpredictable prognosis (that is oft en burdensome), which proves unacceptable to most Indian couples. However, patients should be provided balanced information on the abnormality that has been detected and left to choose the course of action most suited to their situation. Screening for microdeletions can be done if the patient can af ford the cost, as microdeletions are more frequent than aneuploidies in young mothers. In some cases...
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research