An Update on Current Prenatal Testing Options: First Trimester and Noninvasive Prenatal Testing

Latendresse, Gwen; Deneris, Angela

doi:10.1111/jmwh.12228

Cited by 12 publications

(6 citation statements)

References 35 publications

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“…In addition to costs, unnecessary anxiety may be avoided when women prefer NIPT. [ 33 ] In a screening model incorporating NIPT, which yields a substantially lower miscarriage risk, the benefits of adjusting the risk cut-off should be reassessed. Reddy et al [ 31 ] recommended that soft markers may be irrelevant in the absence of an elevated a priori risk for fetal aneuploidy, especially after a normal NIPT is introduced.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal testing in routine clinical practice for a high-risk population

Han³

et al. 2016

Medicine

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This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital.NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups. Follow-up data were obtained from the participants who underwent NIPT from 2013 to 2014.A total of 7223 patients (3018 and 4205 individuals before and after NIPT) were eligible for analysis. After NIPT was introduced in 2013 to 2014, 727 patients (17.3%) underwent invasive testing, 2828 preferred NIPT (67.3%), and 650 declined to undergo further testing (15.5%). A total of 34 cases of trisomies 21, 18, and 13 (0.8%) were found. In 2012 to 2013, 565 patients (18.7%) underwent invasive testing and 2453 declined to undergo further testing (81.3%). A total of 7 cases of trisomies 21, 18, and 13 were documented (0.2%). Of these cases, 24 were found from NIPT and 10 cases were found from invasive testing. The number of participants who declined to undergo further testing significantly decreased after NIPT was introduced (81.3% vs. 15.5%, P < 0.001). The sensitivity and specificity of NIPT for trisomies 21, 18, and 13 were 100% and 99.9%, respectively. The detection rates of NIPT for trisomies 21, 18, and 13 also significantly increased (0.2% vs. 0.8%, P < 0.001). By contrast, the overall rates of invasive testing remained unchanged (18.7% vs. 17.3%, P = 0.12). The positive predictive values of NIPT for trisomies 21, 18, and 13 were 100%, 83.3%, and 50.0%, respectively. The false positive rates of NIPT were 0% and 0.04%.With NIPT implementation in clinical practice, the rate of declining a follow-up test among high-risk women was decreased and the detection rate of prenatal chromosomal aneuploidy for trisomies 21, 18, and 13 was increased without requiring numerous invasive procedures.

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Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal testing in routine clinical practice for a high-risk population

Han³

et al. 2016

Medicine

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“…Noninvasive prenatal testing is the analysis of free‐cell fetal DNA fragments from the mother's blood . This fetal‐screening method has a high sensitivity and specificity of greater than 99%, without the miscarriage risk of invasive diagnostic procedures …”

Section: Prenatal Screening and The Role Of Ultrasoundmentioning

confidence: 99%

“…19 This fetal-screening method has a high sensitivity and specificity of greater than 99%, without the miscarriage risk of invasive diagnostic procedures. 19,20,27…”

Section: Prenatal Screening and The Role Of Ultrasoundmentioning

confidence: 99%

Isolated Intracardiac Echogenic Focus on Routine Ultrasound: Implications for Practice

Murphy¹,

Phillippi²

2015

J Midwife Womens Health

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Ultrasound is widely used as a screening tool for fetal anomalies. An intracardiac echogenic focus (ICEF) is associated with fetal aneuploidy, particularly trisomy 21, when found with other minor abnormalities known as soft markers. However, when found in isolation, intracardiac echogenic foci are morphologic variations with little or no pathologic significance for the fetus. Ambiguity about the significance of ICEF and other soft markers and the lack of preparation prior to ultrasound can result in unnecessary worry for women and their partners. A variety of tools exist that providers can use to help pregnant women and their partners make informed decisions about ultrasound and fetal screening.

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“…Routine prenatal testing including ultrasound scans reveal that 3% of fetuses have congenital anomalies, and of these, approximately 2% are lethal fetal diagnoses (LFDs; Cope, Garrett, Gregory, & Ashley-Koch, 2015;Latendresse & Deneris, 2015), defined as those fetal conditions likely to result in death in the first hours to weeks of life. The majority of parents choose to terminate their pregnancy.…”

mentioning

confidence: 99%

“Love Is a Choice”: Couple Responses to Continuing Pregnancy With a Lethal Fetal Diagnosis

Côté‐Arsenault

Denney-Koelsch

2017

Illness, Crisis & Loss

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While it is known that couples experience pregnancy differently from one another, the circumstance of continuing pregnancy after learning of a lethal fetal diagnosis has received little attention. This longitudinal, naturalistic study of 16 mothers and 14 spouses/partners aimed to describe pregnant couples' responses and relationships in continued pregnancy with lethal fetal diagnosis and to examine similarities and differences within those couple responses. Individual and joint interviews with parents were conducted across pregnancy, birth, and death of the baby. Within and across couple analysis was performed. Three categories emerged (Pregnant vs. Not Pregnant; Individual Responses to Adversity; Strength of the Couple Relationship) with 12 themes. Findings indicate that individual responses to these stressful pregnancies were inherent in who was physically pregnant, choosing whether to love and embrace the unborn baby, personal characteristics, and the strength of the couple relationship. Care providers should assess couple dynamics. Couples with committed relationships, shared decision-making, and mutual support fared the best in the aftermath of their baby's death.

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An Update on Current Prenatal Testing Options: First Trimester and Noninvasive Prenatal Testing

Cited by 12 publications

References 35 publications

Noninvasive prenatal testing in routine clinical practice for a high-risk population

Noninvasive prenatal testing in routine clinical practice for a high-risk population

Isolated Intracardiac Echogenic Focus on Routine Ultrasound: Implications for Practice

“Love Is a Choice”: Couple Responses to Continuing Pregnancy With a Lethal Fetal Diagnosis

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