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.
Focused reproductive endocrinology and infertility (2019) guidelineVõ Tá Sơn
Focused reproductive endocrinology and infertility (2019) image library, guideline,
Hình ảnh học siêu âm trong nội tiết sinh sản và vô sinh,
AIUM 2019,
Bs Võ Tá Sơn,
Practice Bulletin #226, Screening for Chromosomal AbnormalitiesVõ Tá Sơn
Practice Bulletin #226, Screening for Chromosomal Abnormalities,
Hướng dẫn sàng lọc các bất thường nhiễm sắc thể
ACOG & SMFM 2020
Bs Võ Tá Sơn
0978846100 zalo
Magnesium Prevents the Cerebral Palsy Precursor in Premature InfantsRoss Finesmith M.D.
To determine if magnesium sulfate has an effect on the development of cystic
periventricular leukomalacia in preterm infants, this retrospective case control study
was conducted. There were 23,382 infants born at three teaching hospitals in the metropolitan New York area from January 1992 to December 1994. Four hundred ninety-two infants met our entrance criteria. Criteria included a birth weight less than 750 g, survival to at least 7 days of life and at least one cranial ultrasound after 7 days of life.
Infants exposed to magnesium sulfate in utero were less likely to develop periventricular
leukomalacia. Two of 18 (11%) infants with periventricular leukomalacia were
exposed to magnesium sulfate in-utero compared to 14 of 36 controls (39%) (p =
0.035) (OR = 0.196, 95% Cl = 0.039-0.988). Pre-eclampsia as an independent factor
was not associated with a reduced risk (p = 0.251) (OR = 0.294, 95% Cl =
0.033-2.65). Preterm infants exposed to antenatal magnesium sulfate were found to
have a reduced risk of developing cystic periventricular leukomalacia.
Focused reproductive endocrinology and infertility (2019) guidelineVõ Tá Sơn
Focused reproductive endocrinology and infertility (2019) image library, guideline,
Hình ảnh học siêu âm trong nội tiết sinh sản và vô sinh,
AIUM 2019,
Bs Võ Tá Sơn,
Practice Bulletin #226, Screening for Chromosomal AbnormalitiesVõ Tá Sơn
Practice Bulletin #226, Screening for Chromosomal Abnormalities,
Hướng dẫn sàng lọc các bất thường nhiễm sắc thể
ACOG & SMFM 2020
Bs Võ Tá Sơn
0978846100 zalo
Magnesium Prevents the Cerebral Palsy Precursor in Premature InfantsRoss Finesmith M.D.
To determine if magnesium sulfate has an effect on the development of cystic
periventricular leukomalacia in preterm infants, this retrospective case control study
was conducted. There were 23,382 infants born at three teaching hospitals in the metropolitan New York area from January 1992 to December 1994. Four hundred ninety-two infants met our entrance criteria. Criteria included a birth weight less than 750 g, survival to at least 7 days of life and at least one cranial ultrasound after 7 days of life.
Infants exposed to magnesium sulfate in utero were less likely to develop periventricular
leukomalacia. Two of 18 (11%) infants with periventricular leukomalacia were
exposed to magnesium sulfate in-utero compared to 14 of 36 controls (39%) (p =
0.035) (OR = 0.196, 95% Cl = 0.039-0.988). Pre-eclampsia as an independent factor
was not associated with a reduced risk (p = 0.251) (OR = 0.294, 95% Cl =
0.033-2.65). Preterm infants exposed to antenatal magnesium sulfate were found to
have a reduced risk of developing cystic periventricular leukomalacia.
Adrenal Mass in Pregnancy: Diagnostic Approach and DilemmasApollo Hospitals
An adrenal incidentaloma is a mass lesion greater than 1 cm in diameter, incidentally found during radiologic examination for other reasons.
1. Such “adrenal incidentalomas” are increasingly recognised in clinical practice.
2. This is attributed to routine use of sophisticated and sensitive imaging techniques, with a reported prevalence of 4.4%.
3. Incidental findings of such masses pose dilemmas in evaluation and management, as current recommendations based on expert opinion.
4. Are open to debate in terms of cost and clinical
benefits. The uncertainties in management multiply with
such adrenal incidentalomas in the context of pregnancy.
We report a rare case of a large adrenal incidentaloma
complicating second trimester of pregnancy. This case
outlines the huge decisional dilemmas, both for the patient
and healthcare provider.
Colour Doppler ultrasound in controlled ovarian stimulation with Intrauterine...Apollo Hospitals
To assess the endometrial receptivity in terms of endometrial thickness and vascularity and to assess the
potential relationship between perifollicular vascularity following ovulation inducing drugs and outcome in intrauterine insemination (IUI) using the Doppler ultrasonography.
Adrenal Mass in Pregnancy: Diagnostic Approach and DilemmasApollo Hospitals
An adrenal incidentaloma is a mass lesion greater than 1 cm in diameter, incidentally found during radiologic examination for other reasons.
1. Such “adrenal incidentalomas” are increasingly recognised in clinical practice.
2. This is attributed to routine use of sophisticated and sensitive imaging techniques, with a reported prevalence of 4.4%.
3. Incidental findings of such masses pose dilemmas in evaluation and management, as current recommendations based on expert opinion.
4. Are open to debate in terms of cost and clinical
benefits. The uncertainties in management multiply with
such adrenal incidentalomas in the context of pregnancy.
We report a rare case of a large adrenal incidentaloma
complicating second trimester of pregnancy. This case
outlines the huge decisional dilemmas, both for the patient
and healthcare provider.
Colour Doppler ultrasound in controlled ovarian stimulation with Intrauterine...Apollo Hospitals
To assess the endometrial receptivity in terms of endometrial thickness and vascularity and to assess the
potential relationship between perifollicular vascularity following ovulation inducing drugs and outcome in intrauterine insemination (IUI) using the Doppler ultrasonography.
Comparative genomic hybridization is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells
Define karyotype and FISH
Describe the procedure of karyotyping and FISH
Explain chromosomal abnormalities through karyotyping and FISH
Describe the principles of FISH
Presented by-
Dr. Subarna Das
Resident, MS Anatomy
Phase-A, Year-1, Block-2
Guided by-
Prof. Laila Anjuman Banu
Chairman
Department of Anatomy, BSMMU
Reliability, accuracy and cost effectiveness of prenatal screeningRustem Celami
Dr. Genc Kabili, Dr. Rustem Celami
A scientific paper in prenatal care
Prenatal screening, genetic abnormalities, reliability, accuracy, cost-effectiveness
Asccp management guidelines august 2014 ppt. Dr. Sharda Jain /Dr Jyoti Agarw...Lifecare Centre
Updated Consensus
American society of Colpscopy & cervical pathology
Guidelines 2014for Managing forAbnormal Cervical Cancer Screening Test and Cancer Precursors
Dr. Sharda Jain /Dr Jyoti Agarwal / dr. Jyoti Bhasker
This Slideshow focuses on the various types of NIPT tests in the UK and their usefulness. So carefully go through this presentation. For more information visit our website- https://www.conceptodiagnostics.co.uk/
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
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