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Prenatal Testing

The document discusses prenatal testing, including noninvasive prenatal testing (NIPT) using cell-free fetal DNA from the mother's bloodstream. It describes how NIPT can screen for chromosomal abnormalities like Down syndrome earlier in pregnancy with fewer false positives than ultrasound. While NIPT has high accuracy for some conditions, it is not diagnostic and positive results require confirmation through invasive tests. The advantages of NIPT are that it carries no risk to the fetus and can be done earlier than amniocentesis or CVS, but it has limitations like not detecting some microdeletions.

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161 views

Prenatal Testing

The document discusses prenatal testing, including noninvasive prenatal testing (NIPT) using cell-free fetal DNA from the mother's bloodstream. It describes how NIPT can screen for chromosomal abnormalities like Down syndrome earlier in pregnancy with fewer false positives than ultrasound. While NIPT has high accuracy for some conditions, it is not diagnostic and positive results require confirmation through invasive tests. The advantages of NIPT are that it carries no risk to the fetus and can be done earlier than amniocentesis or CVS, but it has limitations like not detecting some microdeletions.

Uploaded by

Mar Clr
Copyright
© © All Rights Reserved
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Download as PDF, TXT or read online on Scribd
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浙江⼤大学 — MBBS — 2016 Batch

Obstetrics Presentation

Group B4
Prenatal Testing
NIPT/NIPD
Prenatal Care
• Prenatal care is the medical check ups and prenatal
testing done to protect the health of the baby and the
mother

• Prenatal Testing include a series of screening and


diagnostic tests done to check for any genetic,
chromosomal, or congenital abnormalities in the foetus.

• The more safer and the more earlier a prenatal test


could give accurate results the more useful it is.
Prenatal Testing
• Classified as either

• Prenatal Screening and Prenatal Diagnosis

• Invasive and Noninvasive


Prenatal Testing
• Prenatal Screening: These are tests that are used to
identify a woman with an increased chance of having a
baby with certain chromosomal abnormalities.
Prenatal Screening tests are not diagnostic and do not
diagnose the congenital, chromosomal or genetic
abnormalities.

• Prenatal Diagnosis: These are procedures Undertaken to


diagnose genetic abnormalities and structural
anomalies often early embryo and foetus in order to
undertake timely prenatal counselling and appropriate
interventions.
Prenatal Testing
Routine Noninvasive Prenatal Testing
NIPT/NIPD
• NIPT (Noninvasive prenatal testing) is prenatal
screening, that uses the cell free foetal DNA (cffDNA) of
the foetus in the mother’s blood, to check for any
chromosomal disorders like aneuploidy

• NIPD (Noninvasive prenatal diagnosis) is done in the


same way as NIPT, but it is diagnostic

• In conclusion, for most diseases this test screens for the


illness and for those disease it is called NIPT; for limited
situations this test is diagnostic and its called NIPD.
NIPT/NIPD
• NIPT/NIPD is first trimester screening.

• As early as 6 weeks cffDNA of the foetus starts to appear


in the maternal blood.

• More accurate results can be obtained after 10 weeks.


Clinical Applications of NIPT/NIPD

• Aneuploidy:

• Down syndrome (trisomy 21), Edward syndrome


(trisomy 18) and Patau syndrome (trisomy 13).

• Turner syndrome (X0) and triple X syndrome


(XXX) in female births and Klinefelter syndrome
(XXY) and XYY syndrome in male births.
Clinical Applications of NIPT/NIPD

• Single gene disorder : detect paternally inherited allele in cfDNA

• Limited to the detection of alleles not already present in the mother

• AD disease like Huntington’s disease, Achondroplasia, Myotonic


dystrophy.

• AR disease like Cystic fibrosis, Haemoglobinopathy (Beta


Thalassemia), Congenital adrenal hyperplasia.

• In congenital adrenal hyperplasia, masculinisation of the female


foetus could be prevented by prenatal treatment. 



Clinical Applications of NIPT/NIPD

• Sex determination of the foetus:

• Ethical Issues

• Since Male foetus is at risk for X-linked disorders like


haemophilia or Duchenne muscular dystrophy.
Clinical Applications of NIPT/NIPD
• Pregnancy related disorder

• Detect the presence of working copy of Rhesus gene,


protect from haemolytic disease of the newborn (HDN).

• Abnormally elevated levels of cfDNA, indicate various


problems associated with placental growth and
development, most importantly Preeclampsia.
NIPT vs Ultrasound
• Both of these are non invasive

• NIPT is more expensive than Ultrasound

• NIPT has less False Positive and higher sensitivity than


the ultrasound.

• For trisomy 13, 18, and 21 screening, NIPT performs


much better than the traditional first trimester screening
(combined test)
NIPT vs Amniocentesis
• NIPT has no risk to the mother or foetus

• Can be done earlier in the gestation

• NIPT has higher sensitivity and specificity for diseases


like Down syndrome and some AD disorder, but it is not
that accurate for turner’s syndrome or micro deletions.

• NIPT is not diagnostic, A positive test of NIPT should


always be confirmed with amniocentesis or CVS
NIPT vs CVS
• Same as Amniocentesis, except both CVS and NIPT
could be done early in the gestation

• Both NIPT and CVS has problem with Mosaicism


Disadvantages of NIPT
• Confined placental mosaicism, whereby the fetus and
placenta have two different lineages. As the fetal DNA
fragments originate from the placenta, NIPT is unable to
distinguish between the two. This is also something that
is unlikely to be overcome, despite continued advances in
test technology, but it should be noted that this is an
issue for invasive placental sampling (e.g., CVS) as well.

• NIPT is more expensive and it is not covered by


insurance.
Disadvantages of NIPT
• A low fetal DNA fraction in the blood sample.

• A ‘vanishing’ twin that has disappeared prior to the


woman's dating ultrasound scan, which if non‐identical
may cause a false positive result. This is likely to remain
an issue even as technology advances.
Advantages of NIPT
• High negative predictive value — avoid unnecessary
amniocentesis or CVS

• High detection rates for trisomy, >99% for trisomy 21,


>90% for trisomy 18 and 13.

• No risk to the mother or foetus

• Available from 10 weeks of gestation.


Indications for NIPD/NIPT
• maternal age 35 years or older at delivery.

• Foetal ultrasound findings indicative of possible


aneuploidy.

• previous history of prior pregnancy with trisomy.

• Known familial robertsonian translocation.

• Previous positive prenatal screen.


Post Test Counselling
• Positive NIPT:

• ALWAYS Invasive test for confirmation, if decline


do postnatal confirmation

• Genetic Test

• Negative NIPT:

• OFFER Invasive test IF parents want to “Know for


Sure”
References
1. Wright, C. F., & Burton, H. (2008). The use of cell-free fetal nucleic acids in
maternal blood for non-invasive prenatal diagnosis. Human Reproduction
Update, 15(1), 139–151. https://doi.org/10.1093/humupd/dmn047

2. Mackie, F. L., Allen, S., Morris, R. K., & Kilby, M. D. (2017). Cell-free fetal
DNA-based noninvasive prenatal testing of aneuploidy. The Obstetrician &
Gynaecologist, 19(3), 211–218. https://doi.org/10.1111/tog.12388

3. Norwitz, E. R., & Levy, B. (2013). Noninvasive prenatal testing: the future is
now. Reviews in obstetrics & gynecology, 6(2), 48–62. https://
www.ncbi.nlm.nih.gov/pmc/articles/PMC3893900/

4. Nicolaides, K. H., Syngelaki, A., Ashoor, G., Birdir, C., & Touzet, G. (2012).
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-
trimester population. American Journal of Obstetrics and Gynecology, 207(5),
374.e1-374.e6. https://doi.org/10.1016/j.ajog.2012.08.033

5. Allyse, M., Minear, M., Rote, M., Hung, A., Chandrasekharan, S., Berson, E.,
& Sridhar, S. (2015). Non-invasive prenatal testing: a review of international
implementation and challenges. International Journal of Women’s Health,
113. https://doi.org/10.2147/ijwh.s67124
Thank You

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