ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?

Hay, Sara; Sahoo, Trilochan; Travis, Mary K.; Hovanes, Karine; Dzidic, Natasa; Doherty, Charles; Strecker, Michelle N.

doi:10.1002/pd.5212

Cited by 66 publications

(61 citation statements)

References 11 publications

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“…A systematic review showed CMA to have an incremental yield of 4.0% in pregnancy with a normal karyotype and apparently isolated increased NT 11 . This study cohort found a 2.5% (2/79) incremental yield, which is consistent with previous literature 11,27,28 .…”

Section: Discussionsupporting

confidence: 93%

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Sinajon

Chitayat

Roifman

et al. 2020

Ultrasound in Obstet & Gyne

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Objectives To determine the incidence of chromosomal abnormalities, submicroscopic chromosomal abnormalities and RASopathy‐disorder (RD) pathogenic variants in a cohort of pregnancies with nuchal translucency thickness (NT) ≥ 3.5 mm, and to propose a clinical protocol for surveillance of this group of patients. Methods This was a retrospective chart review of patients referred to The Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital between January 2013 and December 2015, due to NT ≥ 3.5 mm, who underwent chorionic villus sampling or amniocentesis. Patients underwent extensive genetic counseling prior to invasive procedures and testing. Quantitative fluorescence polymerase chain reaction (QF‐PCR) was performed as the first‐line test for aneuploidy. If the result was negative, patients underwent karyotyping and/or chromosomal microarray analysis (CMA), and if the findings were normal, they had testing for RD pathogenic variants, which included nine known genes. Patients also underwent detailed fetal ultrasound examinations and echocardiography, performed by expert operators. Results A total of 226 eligible patients were identified. In 116/226 (51.3%) patients, QF‐PCR identified a chromosomal aneuploidy. The remaining 110/226 (48.7%) patients had further genetic testing. Karyotyping/CMA detected an abnormal/pathogenic cytogenetic result in 9/110 (8.2%) patients, as well as five variants of unknown significance (VOUS). RD testing yielded three pathogenic variants (3/103), giving a detection rate of 2.9%, and one VOUS. The optimal NT cut‐off for RD screening was 7.9 mm in this population. In 92/110 (83.6%) patients, the genetic investigations were normal. Of these pregnancies, an early (14–16 weeks' gestation) detailed fetal ultrasound examination identified a structural abnormality in 24 (26.1%), 15 (16.3%) had an abnormal detailed ultrasound examination at 18–22 weeks' gestation and fetal echocardiography showed a cardiac abnormality in nine (9.8%). The birth outcome in the 83 pregnancies that had normal genetic investigations and known outcome included seven (8.4%) cases of termination of pregnancy, seven (8.4%) cases of intrauterine fetal death and 69 (83.1%) cases of live birth. Nine (9.8%) patients were lost to follow‐up. Conclusions Both CMA and molecular testing for RD are important investigations in pregnancies with NT ≥ 3.5 mm. The use of genetic testing combined with fetal ultrasound examination provides valuable information that can influence pregnancy outcome, and provide recurrence risks, in this patient population. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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Section: Discussionsupporting

confidence: 93%

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Sinajon

Chitayat

Roifman

et al. 2020

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

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“…Here, we show that the diagnostic rate using CMA and other molecular tests was highest (17.5%) when the indication was sonographic abnormality in two or more fetal systems and the lowest (1%) for any other indication without sonographic abnormality (Figure 1). Previous studies demonstrated a 0.4-2.5% risk of an abnormal CNV in 'low-risk' pregnancy 4,6,40 ; the higher rate observed in the present study may reflect the high-risk population of our study and of those undergoing late amniocentesis as a group. Bardin et al 7 found a 5.3% detection rate of CMA in women who underwent late amniocentesis, which was comparable to that in women who underwent routine second-trimester amniocentesis following abnormal findings.…”

Section: Discussioncontrasting

confidence: 43%

“…Chromosomal microarray analysis (CMA) provides more detailed information about the fetus compared with traditional karyotyping and is known to add 5–9% to the diagnostic yield of the latter. Bardin et al showed that 5.3% of fetuses with late‐appearing abnormal sonographic findings and normal karyotype had a pathogenic CMA result.…”

Section: Introductionmentioning

confidence: 99%

Role of late amniocentesis in the era of modern genomic technologies

Daum

David

Nadjari

et al. 2019

Ultrasound in Obstet & Gyne

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CMA increased detection rates and had a shorter turnaround time; therefore, late amniocentesis may serve as an extremely helpful tool for detecting abnormalities or reassuring parents following late appearing abnormal sonographic findings. However, CMA may expose uncertain findings for which the couple should be pre-counselled. The procedure appears safe. This article is protected by copyright. All rights reserved.

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“…A growing number of centers are offering CMA to all women undergoing amniocentesis and CVS. Some claim that CMA should be performed in prenatal diagnosis, instead of karyotyping, regardless of the clinical indication for testing . Additionally, exome‐sequencing whereby the encoding part of the genome is examined has been increasingly introduced in pregnancies with structural anomalies …”

Section: Second Stage: Pandora's Pregnancymentioning

confidence: 99%

“…Some claim that CMA should be performed in prenatal diagnosis, instead of karyotyping, regardless of the clinical indication for testing. 26 Additionally, exome-sequencing whereby the encoding part of the genome is examined has been increasingly introduced in pregnancies with structural anomalies. 27,28 The main benefit of advanced genomic diagnostic tests such as CMA and exome sequencing is their higher detection rate compared with karyotyping.…”

Section: Future Parents' Experiencesmentioning

confidence: 99%

Pandora's pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing

2019

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Objectives We delineate in this article a shift from the “traditional” technologies of karyotyping in PND to the current phase of advanced genetic technologies including noninvasive prenatal testing (NIPT), chromosomal microarray analysis (CMA), and whole‐exome sequencing (WES) with their higher detection rate and related abundance of uncertain data. Methods Conceptual analysis based on seminal works that shaped the socioethical discourse surrounding the experiences of parents as well as professionals with prenatal diagnosis in the last 30 years. Results We consider the implications of this new era of PND for patients and health professionals by drawing on previous studies documenting how probability and uncertainty affect informed consent/choice, health risks communication, customer satisfaction and decision making, and parent‐child bonding. Conclusions We argue that these changes move us beyond the idioms and realities of the tentative pregnancy and moral pioneering, to uncertainty, probability‐based counseling, and moral/translational gambling. We conclude by discussing what is needed to maintain hope in the era of Pandora's pregnancy.

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ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?

Cited by 66 publications

References 11 publications

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

Role of late amniocentesis in the era of modern genomic technologies

Pandora's pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing

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