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Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits.
J Obstet Gynaecol Can 2015; 37(7):656-668JO

Abstract

OBJECTIVE

To provide maternity care providers and their patients with current evidence-based guidelines for maternal risk/benefit counselling for a prenatally identified at-risk pregnancy that requires ultrasound-guided prenatal diagnostic procedures and/or techniques for a genetic diagnosis and for subsequent pregnancy management decisions on questions such as level of obstetrical care provider, antenatal surveillance, location of care and delivery, and continuation or termination of pregnancy. This guideline is limited to maternal risk/benefit counselling and pregnancy management decisions for women who require, or are considering, an invasive ultrasound-guided procedure or technique for prenatal diagnosis.

PATIENT POPULATION

Pregnant women identified as having an increased risk of a fetal genetic abnormality secondary to the process of established prenatal screening protocols (maternal serum±imaging, high-risk cell-free DNA results, abnormal diagnostic fetal imaging, or a positive family history of an inherited condition). These women may require or request counselling about pregnancy risks and benefits of an invasive ultrasound-guided procedure to determine the etiology, diagnosis, and/or pathology for the possible fetal anomaly or anomalies.

EVIDENCE

Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to June 2014 using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, cordocentesis) and key words (prenatal screening, prenatal genetic counselling, post-procedural pregnancy loss rate). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1985 to June 2014. Searches were updated on a regular basis and incorporated in the guideline to June 2014. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical speciality societies.

VALUES

The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Health benefits, side effects, and risks: Patient informed consent, knowledge translation, genetic prenatal risk assessment, anxiety relief, anxiety creation, advocacy, understanding or limitation for fetal testing, pregnancy management choice, pregnancy complication or loss, timely and improved care for birth of a neonate with recognized morbidity. Recommendations 1. The health care provider should counsel the at-risk pregnant woman on the different levels of genetic fetal testing in order for her to have a clear understanding and expectation of the level of testing and type of results that are offered. (III-B) 2. As part of the informed consent process, the health care provider should review with the at-risk pregnant woman the risks and benefits of in utero genetic diagnostic techniques associated with fetal genetic testing options. (III-A) 3. During risk/benefit counselling, the health care provider should advise that the best estimate of the pregnancy loss rate related to: a.amniocentesis is 0.5% to 1.0% (range 0.17 to 1.53%) (I) b.chorionic villus sampling is 0.5% to 1.0% (I) and c.cordocentesis or percutaneous umbilical blood sampling is 1.3% for fetuses with no anomalies and 1.3% to 25% for fetuses with single or multiple anomalies or intrauterine growth restriction. (II-2A).

Authors+Show Affiliations

Calgary AB.Vancouver BC.Montreal QC.London ON.Toronto ON.No affiliation info available

Pub Type(s)

Journal Article
Practice Guideline

Language

eng fre

PubMed ID

26366824

Citation

Wilson, R Douglas, et al. "Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits." Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstetrique Et Gynecologie Du Canada : JOGC, vol. 37, no. 7, 2015, pp. 656-668.
Wilson RD, Gagnon A, Audibert F, et al. Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits. J Obstet Gynaecol Can. 2015;37(7):656-668.
Wilson, R. D., Gagnon, A., Audibert, F., Campagnolo, C., & Carroll, J. (2015). Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits. Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstetrique Et Gynecologie Du Canada : JOGC, 37(7), pp. 656-668. doi:10.1016/S1701-2163(15)30205-X.
Wilson RD, et al. Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits. J Obstet Gynaecol Can. 2015;37(7):656-668. PubMed PMID: 26366824.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits. AU - Wilson,R Douglas, AU - Gagnon,Alain, AU - Audibert,François, AU - Campagnolo,Carla, AU - Carroll,June, AU - ,, PY - 2015/9/15/entrez PY - 2015/9/15/pubmed PY - 2015/10/28/medline KW - amniocentesis KW - chorionic villi sampling KW - cordocentesis KW - prenatal diagnosis KW - prenatal genetic counselling KW - prenatal procedure benefit KW - prenatal procedure risk SP - 656 EP - 668 JF - Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC JO - J Obstet Gynaecol Can VL - 37 IS - 7 N2 - OBJECTIVE: To provide maternity care providers and their patients with current evidence-based guidelines for maternal risk/benefit counselling for a prenatally identified at-risk pregnancy that requires ultrasound-guided prenatal diagnostic procedures and/or techniques for a genetic diagnosis and for subsequent pregnancy management decisions on questions such as level of obstetrical care provider, antenatal surveillance, location of care and delivery, and continuation or termination of pregnancy. This guideline is limited to maternal risk/benefit counselling and pregnancy management decisions for women who require, or are considering, an invasive ultrasound-guided procedure or technique for prenatal diagnosis. PATIENT POPULATION: Pregnant women identified as having an increased risk of a fetal genetic abnormality secondary to the process of established prenatal screening protocols (maternal serum±imaging, high-risk cell-free DNA results, abnormal diagnostic fetal imaging, or a positive family history of an inherited condition). These women may require or request counselling about pregnancy risks and benefits of an invasive ultrasound-guided procedure to determine the etiology, diagnosis, and/or pathology for the possible fetal anomaly or anomalies. EVIDENCE: Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to June 2014 using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, cordocentesis) and key words (prenatal screening, prenatal genetic counselling, post-procedural pregnancy loss rate). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1985 to June 2014. Searches were updated on a regular basis and incorporated in the guideline to June 2014. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical speciality societies. VALUES: The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Health benefits, side effects, and risks: Patient informed consent, knowledge translation, genetic prenatal risk assessment, anxiety relief, anxiety creation, advocacy, understanding or limitation for fetal testing, pregnancy management choice, pregnancy complication or loss, timely and improved care for birth of a neonate with recognized morbidity. Recommendations 1. The health care provider should counsel the at-risk pregnant woman on the different levels of genetic fetal testing in order for her to have a clear understanding and expectation of the level of testing and type of results that are offered. (III-B) 2. As part of the informed consent process, the health care provider should review with the at-risk pregnant woman the risks and benefits of in utero genetic diagnostic techniques associated with fetal genetic testing options. (III-A) 3. During risk/benefit counselling, the health care provider should advise that the best estimate of the pregnancy loss rate related to: a.amniocentesis is 0.5% to 1.0% (range 0.17 to 1.53%) (I) b.chorionic villus sampling is 0.5% to 1.0% (I) and c.cordocentesis or percutaneous umbilical blood sampling is 1.3% for fetuses with no anomalies and 1.3% to 25% for fetuses with single or multiple anomalies or intrauterine growth restriction. (II-2A). SN - 1701-2163 UR - https://www.unboundmedicine.com/medline/citation/26366824/Prenatal_Diagnosis_Procedures_and_Techniques_to_Obtain_a_Diagnostic_Fetal_Specimen_or_Tissue:_Maternal_and_Fetal_Risks_and_Benefits_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1701-2163(15)30205-X DB - PRIME DP - Unbound Medicine ER -