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

2015 ◽  
Vol 146 (1) ◽  
pp. 28-32 ◽  
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.

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

2021 ◽  
Vol 8 ◽  
Author(s):  
Kyra E. Stuurman ◽  
Marjolein H. van der Mespel-Brouwer ◽  
Melanie A. J. Engels ◽  
Mariet W. Elting ◽  
Shama L. Bhola ◽  
...  
Keyword(s):  
Diagnostic Yield ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Adverse Outcomes ◽  
Genetic Syndromes ◽  
Postnatal Outcome ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

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.

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

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.

scholarly journals Increased nuchal translucency: it’s not just aneuploidy

2020 ◽  
Vol 9 (11) ◽  
pp. 4677
Author(s):  
Reema Kumar Bhatt ◽  
Pranjali Dwivedi ◽  
Anubhuti Rana
Keyword(s):  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Adverse Pregnancy Outcome ◽  
Heart Defects ◽  
Nuchal Translucency ◽  
Intrauterine Death ◽  
Genetic Syndromes ◽  
Fetal Malformations ◽  
Adverse Pregnancy ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) measurement between 11- and 14-weeks’ gestation is an established and consistently performing marker for chromosomal abnormalities, including trisomy 21. Even in the absence of aneuploidy in the event of normal conventional karyotyping or microarray analysis, increased NT is prognosticative of adverse pregnancy outcome, because it is associated with miscarriages, congenital heart defects, several fetal malformations, many genetic syndromes, skeletal dysplasia’s, intrauterine death; the majority of these structural anomalies are undetectable before birth. The parents should be reassured that in the absence of any abnormality detected the fetus will have a normal uneventful outcome and postnatal development when compared to the general population outcome.

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis

2015 ◽  
Vol 46 (6) ◽  
pp. 650-658 ◽  
Author(s):  
M. Grande ◽  
F. A. R. Jansen ◽  
Y. J. Blumenfeld ◽  
A. Fisher ◽  
A. O. Odibo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Genomic Microarray ◽  
Increased Nuchal Translucency

scholarly journals Increased nuchal translucency thickness and normal karyotype: time for parental reassurance

2007 ◽  
Vol 30 (1) ◽  
pp. 11-18 ◽  
Author(s):  
C. M. Bilardo ◽  
M. A. Müller ◽  
E. Pajkrt ◽  
S. A. Clur ◽  
M. M. van Zalen ◽  
...  
Keyword(s):  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report

2020 ◽  
Vol 2020 (6) ◽  
Author(s):  
Yuko Takahashi ◽  
Takeshi Nagamatsu ◽  
Tatsuya Fujii ◽  
Ayako Hashimoto ◽  
Seisuke Sayama ◽  
...  
Keyword(s):  
Heart Diseases ◽  
Umbilical Vein ◽  
Normal Karyotype ◽  
Final Diagnosis ◽  
Nuchal Translucency ◽  
Venous System ◽  
Ductus Venosus ◽  
Hereditary Factors ◽  
Anomalous Pulmonary Venous Return ◽  
Increased Nuchal Translucency

Abstract Previous studies have reported that congenital heart diseases (CHDs) develop in patients with genetic and environmental predisposition. Compared to CHDs, the significance of hereditary factors in the pathogenesis of congenital venous system anomalies remains unclear. Additionally, reports describing the pathogenic relationship between venous system anomalies and increased nuchal translucency (NT) are few. We report sibling recurrence of congenital venous system anomalies. In the prenatal periods of both siblings, increased NT without aneuploidy was confirmed. In the first sibling, the absence of ductus venosus (ADV) and umbilical vein-coronary sinus anastomosis was detected using prenatal ultrasonography. In the second sibling, abnormality of the pulmonary vein was suspected prenatally, leading to a final diagnosis of infracardiac total anomalous pulmonary venous return (TAPVR). This is the first report of extracardiac venous anomaly-associated recurrence of increased NT among siblings. We conclude that a hereditary factor may be responsible for the development of ADV and TAPVR.

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