What parents need to know about prenatal tests


The delivery of each new life is to be celebrated! Anticipating mother and father usually suggested by medical doctors from the division of gynecology and obstetrics to think about noninvasive prenatal assessments (NIPT). Mother and father usually have many questions with regard to the potential advantages of prenatal screening and making an knowledgeable alternative to higher perceive the well being standing of the mom and child. To help on this course of, BGI, one of many world’s main suppliers of NIPTs, interview our in-house consultants to reply these recurring questions.

Q1 What’s NIPT? Why is NIPT thought-about a noninvasive check?

NIPT, often known as noninvasive prenatal screening (NIPS), is a screening check for evaluating the chance that the fetus shall be born with sure genetic abnormalities or chromosomal issues, corresponding to Down syndrome (trisomy 21), Patau syndrome (trisomy 13), and Edwards syndrome (trisomy 18).

This testing analyzes small fragments of DNA which are circulating in a pregnant girl’s blood, which was known as cell-free DNA (cfDNA). NIPT is taken into account noninvasive as a result of it solely requires drawing blood from the pregnant girl to check whether or not a fetus has a genetic situation and doesn’t pose any threat to the fetus, giving anticipating moms the best peace of thoughts with a single blood draw.

Q2 Who ought to go for NIPT?

The newest pointers from the American College of Obstetricians and Gynecologists (ACOG) suggest that Non-Invasive Prenatal Testing (NIPT) be made obtainable to all pregnant girls, no matter maternal age or baseline threat.

NIFTY – BGI’s NIPT resolution – is appropriate for many pregnant girls from week 10 of being pregnant apart from a couple of particular instances.  BGI is dedicated to serving extra pregnant girls with completely different reproductive backgrounds, corresponding to singleton pregnancies, twin pregnancies, and in vitro fertilization (IVF) pregnancies.

The American Faculty of Obstetricians and Gynecologist pointers suggest NIPT for all pregnancies.

Q3 What situations can NIPT display screen for?

It is essential to know that NIPT is a screening check — not a diagnostic check. Because of this it could possibly’t diagnose a genetic situation with certainty. It might probably, nonetheless, predict whether or not the chance of a genetic situation is excessive or low.

NIFTY presents complete prenatal screening choices, together with Trisomy 21, Trisomy 18, Trisomy 13, Intercourse Chromosome Aneuploidies (XO, XXY, XXX, XYY), Uncommon Autosome Aneuploidies (Trisomy 9, Trisomy 16, Trisomy 22), and different aneuploidies.

This autumn Can NIPT be prolonged to display screen for a wider vary of illnesses?

BGI is engaged on enhancing screening applied sciences and lowering prices of sequencing and evaluation to considerably develop the scope of prenatal screening past frequent autosomal aneuploidies corresponding to copy quantity variations (CNVs).

The variety of copies of small sections of our genomes can have huge penalties and proof is accumulating that CNVs play essential roles in human illness. NIFTY Pro can assess the dangers of 84 forms of CNVs now and we’re working to develop the scope of CNV detection.


NIFTY presents testing with decrease blood assortment.

Q5 What’s chorionic villus sampling (CVS) and amniocentesis?

CVS is a prenatal check during which a pattern of chorionic villi is faraway from the placenta for testing. The pattern may be taken by the cervix or the stomach wall.

Amniocentesis is a process during which amniotic fluid is faraway from the uterus for testing or therapy. Amniotic fluid is the fluid that surrounds and protects a child throughout being pregnant.

CVS and amniocentesis are diagnostic assessments that may decide, with as a lot certainty as potential, whether or not a particular genetic dysfunction or situation is current within the fetus.

Each assessments are invasive procedures carrying numerous dangers to the anticipating moms and fetus together with the dangers of miscarriage, needle damage, an infection, and many others.

Q6 How is the anticipating mom’s privateness safeguarded?

The knowledge and NIFTY check outcomes of the affected person are saved confidential and all knowledge will stay nameless throughout evaluation. Solely the affected person’s healthcare supplier will obtain the check outcomes.

BGI will retain private knowledge for not than obligatory to supply these check providers, please learn the BGI Privacy Policy for extra particulars.

YouTube Video: NIPT provides non-invasive and thorough prenatal screening

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