Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy

Background: Increased nuchal translucency (NT) is associated with aneuploidy. When the karyotype is normal, fetuses are still at risk for structural anomalies and genetic syndromes. Our study researched the diagnostic yield of prenatal microarray in a cohort of fetuses with isolated increased NT (defined as NT ≥ 3.5 mm) and questioned whether prenatal microarray is a useful tool in determining the adverse outcomes of the pregnancy.Materials and Methods: A prospective study was performed, in which 166 women, pregnant with a fetus with isolated increased NT (ranging from 3.5 to 14.3 mm with a mean of 5.4 mm) were offered karyotyping and subsequent prenatal microarray when karyotype was normal. Additionally, all ongoing pregnancies of fetuses with normal karyotype were followed up with regard to postnatal outcome. The follow-up time after birth was maximally 4 years.Results: Totally, 149 of 166 women opted for prenatal testing. Seventy-seven fetuses showed normal karyotype (52%). Totally, 73 of 77 fetuses with normal karyotype did not show additional anomalies on an early first trimester ultrasound. Totally, 40 of 73 fetuses received prenatal microarray of whom 3 fetuses had an abnormal microarray result: two pathogenic findings (2/40) and one incidental carrier finding. In 73 fetuses with an isolated increased NT, 21 pregnancies showed abnormal postnatal outcome (21/73, 28.8%), 29 had a normal outcome (29/73, 40%), and 23 were lost to follow-up (23/73, 31.5%). Seven out of 73 live-born children showed an adverse outcome (9.6%).Conclusions: Prenatal microarray in fetuses with isolated increased NT had a 5% (2/40) increased diagnostic yield compared to conventional karyotyping. Even with a normal microarray, fetuses with an isolated increased NT had a 28.8% risk of either pregnancy loss or an affected child.

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INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

Romanian Journal of Clinical Research ◽

10.33695/rjcr.v2i1.24 ◽

2019 ◽

Vol 2 (1) ◽

pp. 59-61

Author(s):

Cristina Moisei ◽

Anca Lesnica ◽

Romina Marina Sima ◽

Liana Pleș

Keyword(s):

Chorionic Villus ◽

Normal Karyotype ◽

First Trimester ◽

Nuchal Translucency ◽

Trisomy 18 ◽

Trisomy 13 ◽

Chorionic Villus Sampling ◽

Increased Risk ◽

First Trimester Ultrasound ◽

Increased Nuchal Translucency

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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Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

Cytogenetic and Genome Research ◽

10.1159/000435865 ◽

2015 ◽

Vol 146 (1) ◽

pp. 28-32 ◽

Cited By ~ 1

Author(s):

Laetitia Gouas ◽

Stéphan Kémény ◽

Anne-Marie Beaufrère ◽

Eléonore Eymard-Pierre ◽

Céline Pebrel-Richard ◽

...

Keyword(s):

Chromosomal Abnormalities ◽

Diagnostic Yield ◽

Normal Karyotype ◽

Nuchal Translucency ◽

Genetic Syndromes ◽

Pathogenic Variants ◽

Genome Wide ◽

Increased Risk ◽

Structural Abnormalities ◽

Increased Nuchal Translucency

Fetuses with increased nuchal translucency thickness (NT) are at increased risk for chromosomal abnormalities. In case of a normal karyotype, a minority of them may present with structural abnormalities or genetic syndromes, which may be related to submicroscopic chromosomal imbalances. The objective of this study was to evaluate whether MLPA screening of 21 syndromic and subtelomeric regions could improve the detection rate of small chromosomal aberrations in fetuses with increased NT and a normal karyotype. A total of 106 prenatal samples from fetuses with NT ≥99th centile and normal R- and G-banding were analyzed by MLPA for subtelomeric imbalances (SALSA P036 and P070) and 21 syndromic regions (SALSA P245). One sample showed a benign CNV (dup(8)pter, FBXO25 gene), and 1 patient was found to have a loss of 18qter and a gain of 5pter as a result of an unbalanced translocation. The incidence of cryptic pathogenic variants was <1% or 2.7% when only fetuses with other ultrasound abnormalities were taken into account. Submicroscopic imbalances in fetuses with increased NT may be individually rare, and genome-wide screening seems more likely to improve the diagnostic yield in these fetuses.

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OC127: Increased nuchal translucency and distended jugular lymphatic sacs by first-trimester ultrasound

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.1245 ◽

2004 ◽

Vol 24 (3) ◽

pp. 250-251

Author(s):

M. Bekker ◽

M. C. Haak ◽

M. Rekoert-Hollander ◽

J. Twisk ◽

J. M. G. van Vugt

Keyword(s):

First Trimester ◽

Nuchal Translucency ◽

First Trimester Ultrasound ◽

Increased Nuchal Translucency

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Diagnosis of major heart defects by routine first‐trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.21956 ◽

2020 ◽

Vol 55 (5) ◽

pp. 637-644 ◽

Cited By ~ 4

Author(s):

G. P. Minnella ◽

F. M. Crupano ◽

A. Syngelaki ◽

V. Zidere ◽

R. Akolekar ◽

...

Keyword(s):

Tricuspid Regurgitation ◽

Ultrasound Examination ◽

Heart Defects ◽

First Trimester ◽

Nuchal Translucency ◽

Ductus Venosus ◽

First Trimester Ultrasound ◽

Increased Nuchal Translucency

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Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1024 ◽

2009 ◽

Vol 3 (3) ◽

pp. 83-90 ◽

Cited By ~ 1

Author(s):

L Orosz ◽

J Lukács ◽

M Szabó ◽

T Kovács ◽

I Zsupán ◽

...

Keyword(s):

First Trimester ◽

Nuchal Translucency ◽

Healthy Children ◽

Cardiac Defects ◽

Long Term Outcome ◽

Long Term Follow Up ◽

Minor Anomalies ◽

Increased Nuchal Translucency

Abstract Objectives The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT thickness. Methods This is a long-term retrospective study in which singleton gestations of euploid fetuses with increased NT were analyzed. NT measurement was performed in the first trimester examination according to the criteria of fetal medicine foundation (FMF) when the fetal crown-rump length (CRL) was 45 to 84 mm. The cases were followed up from 1 to 5 years postpartum to assess the presence of CHD and to point out other anomalies that could be associated with increased NT. Results The outcome of 133 cases could be analysed out of 198 pregnancies of which in 55 cases some congenital anomalies (minor or major) were revealed up to the 5 years of life (prevalence of 41.4%). The prevalence of CHDs, including the defects of the great vessels, stood out among the others. In the group with NT between 95th and 99th centiles four cases with minor heart problems were identified (11.1%, 4/36). The rate of major cardiac defects proved to be 13.3% (6/45) in the group with NT between 3.5-4.4 mm, and 17.3% (9/52) in the group with NT > 4.5 mm. Among the 35 healthy children with various minor health problems not related to the presence of increased nuchal translucency there were 7 cases with hydrocele. In 3 of them it was associated with unilateral inguinal hernia but in 3 it was isolated and one was part of a complex malformation (The rate of other organ-specific anomalies did not prove to be significant). In the whole study population only thirteen cases (9.8%) ended up in intrauterine death, or arteficial abortion. Conclusion The prevalence of major cardiac defects as well as other major anomalies increases with fetal nuchal thickness. Since the prevalence of CHD is 100 times higher in the population of fetuses with NT above 4.5 mm, specialist fetal echocardiography should be offered in the second trimester together with other follow-up investigations. Among the children without any major abnormalities, a high number of minor anomalies were revealed during the long-term follow-up. These anomalies do not have significant disadvantage to the quality of life, but some of them necessitates short or long-term medical treatment and this should also be leveled with the future parents. Despite the numerous investigations the exact etiology of increased NT remains unknown. The relatively high prevalence of hydrocele in the newborns in our material raises the question wheather it is related to the presence of NT in the fetal period because of abnormal lymphatic development or alterations in the extracellular matrix. Further long-term follow-up studies could probably contribute to find explanation on the etiology of increased NT in the first trimester. These data can be used when counseling parents of euploid fetuses with increased fetal NT.

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First-trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.4028 ◽

2007 ◽

Vol 30 (2) ◽

pp. 221-226 ◽

Cited By ~ 26

Author(s):

C. Ngo ◽

G. Viot ◽

M. C. Aubry ◽

V. Tsatsaris ◽

G. Grange ◽

...

Keyword(s):

Skeletal Dysplasia ◽

First Trimester ◽

Nuchal Translucency ◽

Ultrasound Diagnosis ◽

First Trimester Ultrasound ◽

Increased Nuchal Translucency

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Monozygotic Twins Discordant for Trisomy 13

Pediatric and Developmental Pathology ◽

10.1177/1093526616686471 ◽

2017 ◽

Vol 20 (4) ◽

pp. 340-347 ◽

Cited By ~ 7

Author(s):

Patrick McFadden ◽

Sarah Smithson ◽

Robert Massaro ◽

Jialing Huang ◽

Gail T Prado ◽

...

Keyword(s):

Uniparental Disomy ◽

Monozygotic Twins ◽

First Trimester ◽

Nuchal Translucency ◽

Trisomy 13 ◽

Ultrasound Finding ◽

Umbilical Cord Cyst ◽

First Trimester Ultrasound ◽

Mosaic Trisomy ◽

Increased Nuchal Translucency

Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype. The surviving twin will be monitored for potential complication of uniparental disomy 13 and mosaic trisomy 13. This case reinforces the need for early ultrasound and nuchal translucency measurements, especially in twin gestations.

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Case Report: Atypical Cornelia de Lange Syndrome

F1000Research ◽

10.12688/f1000research.3-33.v2 ◽

2015 ◽

Vol 3 ◽

pp. 33

Author(s):

Vito Leanza ◽

Gabriella Rubbino ◽

Gianluca Leanza

Keyword(s):

Genetic Disorder ◽

Normal Karyotype ◽

First Trimester ◽

Nuchal Translucency ◽

Cornelia De Lange Syndrome ◽

Saddle Nose ◽

Nasal Bridge ◽

Venous Dilatation ◽

Cornelia De Lange ◽

Increased Nuchal Translucency

Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation.We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy.

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