Risk of critical congenital heart defects by nuchal translucency norms

Jelliffe‐Pawlowski, Laura L.; Norton, Mary E.; Shaw, Gary M.; Baer, Rebecca J.; Flessel, Monica; Goldman, Sara; Currier, Robert

doi:10.1016/j.ajog.2014.10.1102

Cited by 35 publications

(37 citation statements)

References 39 publications

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“…Our experience supports that devastating structural defects that are not classically associated with the major trisomies will be missed if cfDNA is pursued without imaging between 11 and 14 weeks. 18‐21 While the precise measurement of the NT may no longer be useful, it has been shown that a thick NT is associated with a variety of structural anomalies, allowing referral for the second‐trimester imaging to centers of excellence where detailed anatomic imaging and fetal echocardiography are performed . In addition, chromosomal microarray and further genetic investigation can be considered .…”

Section: Discussionmentioning

confidence: 99%

“…[18][19][20][21] While the precise measurement of the NT may no longer be useful, it has been shown that a thick NT is associated with a variety of structural anomalies, allowing referral for the second-trimester imaging to centers of excellence where detailed anatomic imaging and fetal Table 2 Findings and outcomes of living fetuses with abnormal 11-to 14-week ultrasound echocardiography are performed. [22][23][24] In addition, chromosomal microarray and further genetic investigation can be considered. [11][12][13]24 Similarly, we found that 12.6% of multiple gestations did not have an imaging study prior to the 11-to 14-week scan and may have gone undetected until the second trimester when assessing placentation characteristics is more difficult and patient risk profiles concerning selective reduction or continuing a complicated monochorionic pregnancy could be impacted.…”

Section: Discussionmentioning

confidence: 99%

“…Because the 11‐ to 14‐weeks scan was initially adopted for its use in aneuploidy screening, its place within the next lexicon of prenatal screening with cfDNA remains to be established. While the precise measurement of the NT may no longer be required for aneuploidy risk assessment, imaging the fetus at 11 to 14 weeks provides an early opportunity to evaluate the pregnancy and identify a fetus at risk for additional genetic or structural abnormalities . We undertook this study to examine the utility of the 11‐ to 14‐week scan in women with negative cfDNA as well as to assess the impact on patient choice regarding diagnostic testing and pregnancy management.…”

Section: Introductionmentioning

confidence: 99%

“…While the precise measurement of the NT may no longer be required for aneuploidy risk assessment, imaging the fetus at 11 to 14 weeks provides an early opportunity to evaluate the pregnancy and identify a fetus at risk for additional genetic or structural abnormalities. [15][16][17][18][19][20][21][22][23][24] We undertook this study to examine the utility of the 11-to 14-week scan in women with negative cfDNA as well as to assess the impact on patient choice regarding diagnostic testing and pregnancy management.…”

Section: Introductionmentioning

confidence: 99%

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What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy?

et al. 2016

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Objective This study aimed to examine the role of the 11-to 14-week ultrasound in women with negative cell-free DNA screening.Methods A retrospective cohort study of women at increased risk for aneuploidy based on age or medical history and negative cell-free DNA screening between March 2012 and March 2014 was conducted. Patients were included if they had an 11-to 14-week ultrasound and obstetrical care at our center(s). Primary outcome was an unexpected finding at ultrasound. Imaging findings were compared with obstetrical outcome by medical record review.Results Study group was composed of 1739 patients. An unexpected finding was identified in 60/1739 (3.5%). An abnormal fetal finding occurred in 37 living fetuses (2.1%); 33 had a nuchal translucency (NT) ≥ 3 mm, including four 'isolated' cystic hygroma and three with a structural abnormality. Four fetuses had a structural anomaly without a thick NT. Karyotype confirmed euploidy in 98.7% of available cases. Pregnancy termination was chosen by 63.6% of those with cystic hygroma or anomaly at the 11-to 14-week scan. Unexpected multiples were identified in 13 (0.7%) women and a fetal demise in 10 (0.6%).Conclusion Unexpected findings at the 11-to 14-week scan occur in 3.5% of patients with negative cell-free DNA.Recognition provides options for comprehensive testing, consultation, and management.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy?

et al. 2016

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“…Diagnosis and procedure codes are based on the International Classiﬁcation of Diseases, 9th Revision, Clinical Modiﬁcation (ICD‐9). The database has been used in multiple studies examining the birth and neonatal outcomes …”

Section: Methodsmentioning

confidence: 99%

Outcomes of pulmonary vascular disease in infants conceived with non‐IVF fertility treatment and assisted reproductive technologies at 1 year of age

Fineman

Baer

Chambers

et al. 2019

Pediatric Pulmonology

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Background Assisted reproductive technologies (ARTs) have been associated with the development of endothelial dysfunction. Objective To determine potential differences in outcomes associated with pulmonary vascular disease in infants born to mothers receiving any infertility treatment including ART and non‐IVF fertility treatments (NIFTs). Design/Methods The sample was derived from an administrative database containing detailed information on infant and maternal characteristics for live‐born infants in California (2007‐2012) with gestational age (GA) 22 to 44 weeks. Cases were defined as infants with ICD‐9 code for pulmonary vascular disease (PVD) and records for ART/NIFT. Controls were randomly selected at a 1:4 ratio. The primary outcome was 1‐year mortality. Crude and adjusted odds ratio (OR) with 95% confidence interval (CI) were calculated. Results We identified 159 cases and 636 controls. Mothers that utilized ART/NIFT were older, to be of the Caucasian race, to have pre‐eclampsia, private insurance, and education >12 years (P < .001). Cases compared to controls were more premature, had lower birth weights, and were more often the product of a multiple gestation pregnancy (P < .001). Cases had a higher 1‐year mortality (18.2% vs 9.1%; OR: 2.2; 95% CI: 1.4, 3.6), more severe PVD (86.2% vs 72.3%; OR: 2.4; 95% CI: 1.5, 3.9), and a longer hospital stay (66.7 ± 73.0 vs 32.5 ± 47.2 days; P < .001) than controls. However, when adjusting for GA these differences become statistically insignificant. Conclusion Children born following ART/NIFT with PVD had increased mortality compared to infants with PVD but without ART/NIFT. The primary driver of this relationship is prematurity.

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Critical congenital heart defects and abnormal levels of routinely collected first‐ and second‐trimester biomarkers

Borelli

Baer

Chambers

et al. 2016

American J of Med Genetics Pt A

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We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements. The sample included 118,194 mother-infant pairs; 284 infants had a CCHD. Women with preexisting diabetes were three-times as likely to have an infant with a CCHD. After adjusting for preexisting diabetes, women with first-trimester human chorionic gonatotropin (hCG) measurement <10th centile were 1.6-times as likely to have an infant with a CCHD (P = 0.011). Women with a NT measurement ≥95th centile were at two- to threefold higher risk of having an infant with a CCHD (P's = 0.004-0.007). Pregnancies with two risk factors for an infant with a CCHD were 5.6-times more likely to have an infant with a CCHD than women with no identified risk factors (P < 0.001). Despite the increased risk, performance testing demonstrated low sensitivity and specificity for screening use of these risk factors. Of the women with an infant with a CCHD, only 21.8% had an identified risk factor. © 2016 Wiley Periodicals, Inc.

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Risk of critical congenital heart defects by nuchal translucency norms

Cited by 35 publications

References 39 publications

What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy?

What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy?

Outcomes of pulmonary vascular disease in infants conceived with non‐IVF fertility treatment and assisted reproductive technologies at 1 year of age

Critical congenital heart defects and abnormal levels of routinely collected first‐ and second‐trimester biomarkers

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