hasil pengujian abnormal prenatal tertentu dan diagnosis selanjutnya maternal cancer

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 hasil pengujian abnormal prenatal tertentu dan diagnosis selanjutnya maternal cancer

Date:

July 13, 2015

Source:

The JAMA Network Journals

Summary:

Dalam penelitian pendahuluan , sejumlah kecil okultisme ( hidden) keganasan yang kemudian didiagnosis pada wanita hamil pada hasil pengujian prenatal noninvasif menunjukkan kelainan kromosom tapi kariotipe janin kemudian terbukti normal, menurut sebuah studi baru 

............ Memahami hubungan antara deteksi aneuploidi ( jumlah abnormal kromosom ) pada pengujian noninvasif prenatal ( NIPT ) dan keganasan maternal  okultisme dapat menjelaskan hasil NIPT abnormal dengan kariotipe janin yang sebenarnya ( karakteristik kromosom sel ) dan peningkatan  perawatan klinis maternal . Banyak masyarakat profesional telah merekomendasikan bahwa NIPT ditawarkan kepada wanita hamil yang berisiko tinggi yang mengalami janin dengan autosomal ( yang berkaitan dengan kromosom yang bukan  kromosom seks ) aneuploidi , dengan tindak lanjut  tes diagnostik  ( amniosentesis atau chorionic villus sampling ) dianjurkan untuk mengkonfirmasi hasil tes positif , menurut informasi latar belakang dalam artikel tersebut ......more

Certain abnormal
prenatal testing results and subsequent diagnosis of maternal cancer

Date:

July 13, 2015

Source:

The JAMA Network Journals

Summary:

In preliminary research, a small number of occult (hidden) 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, according to a new study.

.............

In preliminary research, a small number of occult (hidden) 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, according to a study appearing in JAMA. The study is being released to coincide with its presentation at the 19th
International Conference on Prenatal Diagnosis and Therapy in Washington, D.C.

Understanding the relationship between aneuploidy detection (an abnormal
number of chromosomes) on noninvasive prenatal testing (NIPT) and occult
maternal malignancies may explain abnormal NIPT results that are discordant
with the actual fetal karyotype (the chromosomal characteristics of a cell) and
improve maternal clinical care. Many professional societies have recommended
that NIPT be offered to pregnant women at high risk for having a fetus with
autosomal (pertaining to a chromosome that is not a sex chromosome) aneuploidy,
with follow-up diagnostic testing (amniocentesis or chorionic villus sampling)
recommended to confirm a positive test result, according to background
information in the article.

Diana W. Bianchi, M.D., of Tufts Medical Center, Boston, and colleagues
examined DNA sequencing data in a series of pregnant women with abnormal NIPT
results involving aneuploidies of certain chromosomes, who were diagnosed with
cancer after prenatal testing occurred. The case patients were identified from
125,426 samples submitted between February 2012 and September 2014 from
asymptomatic pregnant women who underwent plasma cell-free DNA sequencing for
clinical prenatal aneuploidy screening.

Among the clinical samples, 3,757 (3 percent) were positive for 1 or more
aneuploidies involving chromosomes 13, 18, 21, X, or Y. These were reported to
the ordering physician with recommendations for further evaluation. From this
set of 3,757 samples, 10 cases of maternal cancer were identified. Detailed
clinical and sequencing data were obtained in 8. Maternal cancers most
frequently occurred with the rare NIPT finding of more than 1 aneuploidy
detected (7 known cancers among 39 cases of multiple aneuploidies by NIPT, 18
percent). In 1 case, blood was sampled after completion of treatment for
colorectal cancer and the abnormal pattern was no longer evident.

"Here we have shown that occult maternal malignancies may provide a
biological explanation for some discordant NIPT results. This is presumably due
to the cell-free DNA that is released into maternal circulation from apoptotic
[death of cells] malignant cells," the authors write.

The researchers add that these data underscore the necessity of performing
a diagnostic procedure to determine the true fetal karyotype whenever NIPT
results reveal chromosomal abnormalities. "When there is discordance
between the fetal karyotype and NIPT result, occult maternal malignancy,
although very uncommon, may be an explanation for the findings. Based on the
results of the study, we estimate there is between a 20 percent and 44 percent
risk of maternal cancer if multiple aneuploidies are detected. However, until
further studies are done to assess the clinical implications of discordant NIPT
and fetal karyotype results, it is not clear what, if any, follow-up clinical
evaluation is appropriate."

Editorial: Noninvasive Prenatal Testing and Detection of Maternal Cancer

"At this time, there is insufficient evidence about the benefits,
risks, and costs of reporting the incidental findings, as Bianchi et al
mention," write Roberto Romero, M.D., D.Med.Sci., of the Eunice Kennedy
Shriver National Institute of Child Health and Human Development, National
Institutes of Health, Bethesda, Md., and Maurice J. Mahoney, M.D., J.D., of the
Yale University School of Medicine, New Haven, Conn., in an accompanying
editorial.

"As the authors correctly recommend, the data emphasize the need for
performing a diagnostic procedure to determine the fetal karyotype in all
situations in which there is an abnormal NIPT result. Given that it is likely
that NIPT will increase in the coming years, an active dialogue among stakeholders
(obstetricians, patients, laboratories, ethicists, policy makers, etc.) needs
to take place to provide informed advice to potentially affected pregnant women
and to guide the care of such patients."







Story Source:

The above post is reprinted from materials provided
by The JAMA Network Journals. Note:
Materials may be edited for content and length.







Journal References:

1.   
Diana W. Bianchi, Darya Chudova, Amy J. Sehnert, Sucheta Bhatt, Kathryn
Murray, Tracy L. Prosen, Judy E. Garber, Louise Wilkins-Haug, Neeta L. Vora,
Stephen Warsof, James Goldberg, Tina Ziainia, Meredith Halks-Miller.Noninvasive
Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA,
2015; DOI: 10.1001/jama.2015.7120

2.   
Roberto Romero, Maurice J. Mahoney. Noninvasive Prenatal Testing
and Detection of Maternal Cancer.JAMA, 2015; DOI: 10.1001/jama.2015.7523

http://www.sciencedaily.com/releases/2015/07/150713172229.htm

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