Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

Judith Walsh, MD, MPH

Disclosures

CTAF 

In This Article

Recommendations of Others

Blue Cross Blue Shield Association (BCBSA)

No assessments on this topic were found on the BCBSA TEC website.

Canadian Agency for Drugs and Technologies in Health (CADTH)

No assessments or guidelines on this topic were found on the CADTH website.

National Institute for Health and Clinical Excellence (NICE)

No assessments or guidelines on this topic were found on the NICE website.

Centers for Medicare and Medicaid Services (CMS)

No information on this topic was found on the CMS website.

Agency for Healthcare Research and Quality

No evidence reports or technology assessments were found on this topic on the AHRQ Genetic Testing section of the AHRQ website.

National Society of Genetic Counselors (NGSC)

NGSC was invited to send an opinion on this technology and to send a representative to the meeting. NGSC forwarded their position statement dated February 18, 2012 and sent a representative to the meeting via teleconference.

The position statement of the NGSC as of February 18, 2012 states … that NGSC currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing."

American College of Obstetricians and Gynecologists (ACOG), District IX (CA)

ACOG was invited to send an opinion on this technology and to send a representative to the meeting. ACOG did not send in an opinion nor send a representative to the meeting.

In its 2007 clinical management guidelines ACOG recommended offering prenatal screening and invasive diagnostic testing for fetal aneuploidy to all pregnant women before 20 weeks of gestation, regardless of maternal age.[5] The ACOG guideline algorithm for prenatal aneuploidy screening and diagnostic testing is summarized below.

Test used to detect fetal aneuploidy First trimester Second trimester
  • Screening Test

  • Integrated Screen

  • First Trimester Screen

  • Integrated Screen

  • Triple Screen

  • Quad Screen

  • Invasive Diagnostic Test

  • Chorionic Villi Sampling

  • Amniocentesis

Association of Professors of Gynecology and Obstetrics (APGO)

APGO was invited to send an opinion on this technology and to send a representative to the meeting. APGO did not send an opinion nor send a representative to the meeting

International Society for Prenatal Diagnosis (ISPD)

ISPD was invited to send an opinion on this technology and to send a representative to the meeting. ISPD did not send an opinion nor send a representative to the meeting

National Organization of Rare Diseases (NORD)

NORD was invited to send an opinion on this technology and to send a representative to the meeting. NORD did not send an opinion nor send a representative to the meeting

Society for Maternal-Fetal Medicine (SMFM)

SMFM was invited to send an opinion on this technology and to send a representative to the meeting. SMFM sent an opinion but did not send a representative to the meeting.

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