Discordant results between fetal cell-free DNA in maternal plasma and chorionic villus sampling in a first-trimester fetus with increased nuchal translucency and megacystis

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

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Trisomy 9 presenting in the first trimester as a fetal lateral neck cyst and increased nuchal translucency

Case Reports in Perinatal Medicine ◽

10.1515/crpm-2017-0068 ◽

2018 ◽

Vol 7 (2) ◽

Author(s):

Emma Lazrove ◽

Mary Beth Janicki ◽

Teresa Berry ◽

Reinaldo Figueroa

Keyword(s):

Single Gene ◽

Diagnostic Testing ◽

Chorionic Villus ◽

First Trimester ◽

Nuchal Translucency ◽

Chorionic Villus Sampling ◽

Lateral Neck ◽

Trisomy 9 ◽

Vermian Hypoplasia ◽

Increased Nuchal Translucency

Abstract Background Fetal lateral neck cysts are transient fluid accumulations that result from abnormal lymphatic formations. In the first trimester, fetal lateral neck cysts accompanied by an increased nuchal translucency have been associated with aneuploidy, single-gene disorders and other malformations. Highlights We describe a case in which a lateral neck cyst, which measured 6.7 × 4 × 6.2 mm, was detected by ultrasonography in the first trimester with the additional finding of increased nuchal translucency (3.7 mm; >95th percentile). No other abnormalities were detected at that time. Standard cell-free DNA screening resulted in no aneuploidy detected for chromosomes 21, 18, 13 and the sex chromosomes. The patient declined diagnostic testing with chorionic villus sampling. A repeat ultrasound at 16 weeks’ gestation demonstrated a normally grown fetus with persistence of the cyst, which measured 4.9 × 5 × 8.4 mm, as well as a pericardial effusion with a single outflow tract overriding the ventricular septum and vermian hypoplasia. The diagnosis of trisomy 9, 47,XX,+9, was made by amniocentesis and the patient opted for termination of the pregnancy. Conclusions This report illustrates the importance of identifying additional abnormalities in a fetus with lateral neck cysts, documenting the size of the cysts and obtaining diagnostic genetic testing.

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A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting

Journal of Pregnancy ◽

10.1155/2014/962720 ◽

2014 ◽

Vol 2014 ◽

pp. 1-7 ◽

Cited By ~ 4

Author(s):

Robert Wallerstein ◽

Andrea Jelks ◽

Matthew J. Garabedian

Keyword(s):

Risk Assessment ◽

Genetic Counseling ◽

Patient Education ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling ◽

Cell Free Dna ◽

Free Dna ◽

Integrated Screening ◽

Cfdna Screening

Objective. Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management.Study Design. Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1) cfDNA; (2) integrated screening; (3) direct-to-invasive testing (chorionic villus sampling or amniocentesis); or (4) no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18–20 weeks to review first trimester testing and finalize decision for amniocentesis.Results. Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69%) over integrated screening (0.6%), direct-to-invasive testing (14.1%), or no screening (16.6%). Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%,P<0.05).Conclusion. When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care.

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First-Trimester Contingent Screening for Trisomy 21 by Fetal Nuchal Translucency and Maternal Serum Biomarkers and Maternal Blood Cell-Free DNA Testing

Journal of Fetal Medicine ◽

10.1007/s40556-018-0177-z ◽

2018 ◽

Vol 5 (3) ◽

pp. 139-143

Author(s):

Sarang Younesi ◽

Shahram Savad ◽

Soudeh Ghafouri-Fard ◽

Mohammad Mahdi Taheri-Amin ◽

Pourandokht Saadati ◽

...

Keyword(s):

Blood Cell ◽

Trisomy 21 ◽

First Trimester ◽

Nuchal Translucency ◽

Maternal Blood ◽

Maternal Serum ◽

Serum Biomarkers ◽

Dna Testing ◽

Cell Free Dna ◽

Free Dna

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Prenatal Screening and Diagnosis

10.2310/tywc.19170 ◽

2018 ◽

Author(s):

Barbara O’Brien ◽

Emily Willner

Keyword(s):

Diagnostic Testing ◽

Chorionic Villus ◽

Clinical History ◽

Maternal Serum ◽

Specific Gene ◽

Chorionic Villus Sampling ◽

Genetic Syndromes ◽

Cell Free Dna ◽

Free Dna ◽

Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray. This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography

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