This document discusses karyotyping and non-invasive prenatal testing (NIPT). It summarizes two studies on abnormal prenatal testing results. The first found that some women received abnormal NIPT results but later fetal karyotyping was normal, and a few were diagnosed with occult cancers. The second announces the launch of the MaterniT GENOME test, an improved NIPT that identifies chromosomal gains or losses over 7 megabases previously undetectable. Both studies seek less invasive ways to identify fetal anomalies and have great medical potential to improve prenatal care and quality of life.

1. KARYOTYPE
SUSANA BAENA GARCIA
TEACHER: LINA MARTINEZ
MOLECULAR BIOLOGY

4. INTRODUCTION
Karyotype is the chromosome
constitution of an individual.
NIPT, which analyzes cell-free fetal
DNA circulating in maternal blood,
is a new option in the prenatal
screening and testing
paradigm for trisomy 21 and a
few other fetal chromosomal
aneuploidies.

5. CERTAIN ABNORMAL PRENATAL TESTING
RESULTS AND SUBSEQUENT DIAGNOSIS OF
MATERNAL CANCER
A small number of occult malignancies were subsequently
diagnosed among pregnant women whose noninvasive prenatal
testing results showed chromosomal abnormalities but the fetal
karyotype was subsequently shown to be normal

6. CERTAIN ABNORMAL PRENATAL TESTING
RESULTS AND SUBSEQUENT DIAGNOSIS OF
MATERNAL CANCER

7. CERTAIN ABNORMAL PRENATAL TESTING
RESULTS AND SUBSEQUENT DIAGNOSIS OF
MATERNAL CANCER

8. CERTAIN ABNORMAL PRENATAL TESTING
RESULTS AND SUBSEQUENT DIAGNOSIS OF
MATERNAL CANCER

9. STUDENT OBSERVATION
I think this study is the first of many that
can result from this to study in a non
-invasive way the mother and the baby and
in the future to find solutions to these
issues

10. SEQUENOMLABORATORIES ANNOUNCES
LAUNCHOF MATERNIT GENOME TEST
• This test is the first noninvasive prenatal test (NIPT) to provide
karyotype-level insight into fetal chromosomal status prior to
considering an invasive procedure.
• The MaterniT GENOME test adds genome-wide identification of
chromosomal gains or losses greater than 7 megabases (Mb)
that were previously undetectable by NIPT."

11. SEQUENOM LABORATORIES ANNOUNCES
LAUNCH OF MATERNIT GENOME TEST
• While cell-free DNA: significant improvement in identifying
pregnancies at riskforaneuploidies
• There remain a numberof significant cytogenetic abnormalities that
noninvasive prenatal testing has not been able to identify

12. SEQUENOM LABORATORIES ANNOUNCES
LAUNCH OF MATERNIT GENOME TEST
• Was recently highlighted in an article by Hume JH, et al, published in the
peer-reviewed journal PrenatalDiagnosis.
• MaterniT GENOME test will be presented at the 19th
International
Conference on Prenatal Diagnosis and Treatment
• The MaterniT GENOME test will be available to physicians laterthis
quarter.

13. SEQUENOMLABORATORIES ANNOUNCES
LAUNCHOF MATERNIT GENOME TEST
President and Chief Executive Officerof
Sequenom.
•"As pioneers and innovators in noninvasive
prenatal testing, we believe MaterniT
GENOME represents a safe, cost effective
and meaningful breakthrough in NIPT,
supporting physicians in providing superior
prenatal care fortheirpatients."

14. STUDENT OBSERVATION
•I think this new release will be a positive thing
because it is a safe way to study the baby
before birth and find defects in their genome
and thus find a way to improve their
development

15. MEDICAL UTILITY
These studies have great
medical importance as both
seek less invasive possible
way to find anomalies in the
fetus.

16. MEDICAL UTILITY
•The first news opens a new field of research
into changes in the mother's pregnancy and
her child 's genome .

17. MEDICAL UTILITY
•And the second increased the most reliable
diagnostic findings and the baby before birth

18. MEDICAL UTILITY
Both studies will be useful to find treatments
to Improve Quality of Life to the baby and
the mother

19. BIBLIOGRAFIA
Secuenom,inc (July 13, 2015). Certain abnormal prenatal testing results and
subsequent diagnosis of maternal cancer. New Medical. Retrieved July 19,2015
from
www.news-medical.net/news/20150713/Sequenom-Laboratories-announces-launch-of-MaterniT
The JAMA Network Journals(July 13, 2015). Certain abnormal prenatal testing
results and subsequent diagnosis of maternal cancer. Retievered July 19,2015 from
www.sciencedaily.com/releases/2015/07/150713172229.htm
MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 2. ed. Medellín: UPB. Fac.
de Medicina, 2006. 208 p.
NCHPEG, The Jakson Laboratory.Non-Invasive Prenatal Testing Factsheet.
Retrivered july 26, 2015 from www.nchpeg.org/index.php?
option=com_content&view=article&id=384&Itemid=255

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