OC08.04: Resolution of enlarged nuchal translucency or cystic hygroma prior to chorionic villus sampling: impact on outcomes

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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Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis

Acta Obstetricia Et Gynecologica Scandinavica ◽

10.3109/00016349609033353 ◽

1996 ◽

Vol 75 (5) ◽

pp. 454-458 ◽

Cited By ~ 22

Author(s):

Chih-Ping Chen ◽

Fen-Fen Liu ◽

Sheau-Wen Jan ◽

Chen-Chi Lee ◽

Dai-Dyi Town ◽

...

Keyword(s):

Fetal Death ◽

Chorionic Villus ◽

Cystic Hygroma ◽

Hydrops Fetalis ◽

Intrauterine Fetal Death ◽

Chorionic Villus Sampling

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First-trimester Down's syndrome screening using nuchal translucency: a prospective study in patients undergoing chorionic villus sampling

Ultrasound in Obstetrics and Gynecology ◽

10.1046/j.1469-0705.1995.05010009.x ◽

1995 ◽

Vol 5 (1) ◽

pp. 9-14 ◽

Cited By ~ 61

Author(s):

B. Brambati ◽

C. Cislaghi ◽

L. Tului ◽

E. Alberti ◽

M. Amidani ◽

...

Keyword(s):

Prospective Study ◽

Down's Syndrome ◽

Chorionic Villus ◽

Down’S Syndrome ◽

First Trimester ◽

Nuchal Translucency ◽

Chorionic Villus Sampling ◽

A Prospective Study

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Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review

Twin Research and Human Genetics ◽

10.1375/twin.11.3.352 ◽

2008 ◽

Vol 11 (3) ◽

pp. 352-356 ◽

Cited By ~ 17

Author(s):

Barbara Gentilin ◽

Silvana Guerneri ◽

Vera Bianchi ◽

Federica Natacci ◽

Augusto Colombo ◽

...

Keyword(s):

Chorionic Villus ◽

Monozygotic Twins ◽

First Trimester ◽

Monozygotic Twin ◽

Cystic Hygroma ◽

Chorionic Villus Sampling ◽

Monochorionic Twins ◽

Unequal Distribution ◽

Monosomy X ◽

Short And Long Term

AbstractWe present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtained by both short- and long-term culture, revealed a homogeneous monosomy X (45,X). Amniocentesis was performed separately for both twins before termination and showed an homogeneous monosomy X in one sample and a 46,X,del(X)(p11.1) karyotype in the other one. Postmortem fetal tissues culture confirmed the discordant karyotype between the two embryos. Placental samples obtained after termination revealed the cell line which was not detected at chorionic villus sampling. Based on this and previous reports, we suggest that in cases of a phenotypic discordance detected at ultrasound in the first trimester, it is advisable to perform a karyotype analysis on amniocytes because it better reflects fetal constitution rather than chorionic villi or lymphocytes in case of heterokaryotipic monosomy X monochorionic twins.

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P01.21: Screening for Down syndrome by fetal nuchal translucency and chorionic villus sampling in a high risk population

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.3407 ◽

2006 ◽

Vol 28 (4) ◽

pp. 517-517

Author(s):

L. C. S. Bussamra ◽

E. Cordioli ◽

C. G. V. Murta ◽

C. R. Pires ◽

A. F. Moron

Keyword(s):

Down Syndrome ◽

High Risk ◽

Chorionic Villus ◽

Nuchal Translucency ◽

High Risk Population ◽

Chorionic Villus Sampling ◽

Risk Population

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Normal Reference Range of Fetal Nuchal Translucency Thickness Among Pregnant Women of Igbo Extraction in Enugu, South-East Nigeria

10.21203/rs.3.rs-36784/v1 ◽

2020 ◽

Author(s):

Charles Ugwoke Eze ◽

Sandra Nnenna Okenwa ◽

Everistus obinna Abonyi ◽

Julius Amechi Agbo ◽

Sobechukwu Warric Iwene Onwuzu ◽

...

Keyword(s):

Pregnant Women ◽

Maternal Age ◽

Pearson Correlation ◽

Chorionic Villus ◽

Nuchal Translucency ◽

Chorionic Villus Sampling ◽

Strong Positive Correlation ◽

Positive Correlation ◽

Baseline Values ◽

The Relationship

Abstract Background: Screening of fetus for congenital anomaly has posed a great challenge to obstetricians and other caregivers even as early identification can improve the chances of getting the best possible outcome. Early fetal anomaly screening is usually done using nuchal translucency scan and other invasive procedures such Chorionic villus sampling and amniocentesis. Increase in Nuchal translucency thickness (NTT) above a certain baseline values has been found to predict fetus with anomaly. Baseline values in use are generated from Caucasian population even though these values are known to be population specific. Hence, their use on any given population may lead to errors and introduce potential misdiagnosis. Therefore, there is need for population specific baseline values of NTT.Objectives: The study is aimed at developing baseline values of NTT among apparently normal fetuses from pregnant women of Igbo ethnic group and to assess the relationship of NTT with maternal age and fetal gestational age (FGA).Methods: This cross-sectional study involved 658 pregnant women of Igbo Origin between 11-14 weeks of gestation at Esut Teaching Hospital (Parklane) Enugu from August 2017 to February 2018. Pilot study was done to determine the interobserver variation between sonographers while final NTT was calculated as mean of three separate measurements. The 5th, 50th and 95th percentiles were calculated using polynomial regression while Pearson correlation was used to determine the relationship between NTT, maternal age and FGA. Results: The NTT measurement was shown to be reliable and reproducible. Mean ± S/D NTT obtained was 0.92 ± 0.23 mm. There was a strong positive correlation between NTT measurements and FGA (r = 0.823, p < 0.001); while there was weak but positive correlation between NTT measurements and Maternal age (r = 0.055, p > 0.001). Conclusion: Nuchal translucency thickness measurement increases with increase in FGA while a baseline value of NTT among pregnant women of Igbo extraction has been generated.

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The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma

Prenatal Diagnosis ◽

10.1002/pd.1970070412 ◽

1987 ◽

Vol 7 (4) ◽

pp. 299-301 ◽

Cited By ~ 20

Author(s):

A. Reuss ◽

L. Pijpers ◽

P. T. F. M. Schampers ◽

J. W. Wladimiroff ◽

E. S. Sachs

Keyword(s):

Chorionic Villus ◽

First Trimester ◽

Cystic Hygroma ◽

Chorionic Villus Sampling

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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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