Monozygotic Twins Discordant for Trisomy 13

2017 ◽  
Vol 20 (4) ◽  
pp. 340-347 ◽  
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.

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.

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

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

Increased nuchal translucency and distended jugular lymphatic sacs on first-trimester ultrasound

2005 ◽  
Vol 25 (3) ◽  
pp. 239-245 ◽  
Author(s):  
M. N. 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

scholarly journals Clinical Utility of Increased Nuchal Translucency at 11-13 weeks of Gestation in Twin Pregnancies based on the Chorionicity

2020 ◽  
Author(s):  
Siwon Lee ◽  
Hyun-Mi Lee ◽  
You Jung Han ◽  
Moon Young Kim ◽  
Hye Yeon Boo ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Odds Ratio ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Adverse Pregnancy ◽  
Twin Pregnancies ◽  
First Trimester Ultrasound ◽  
Fetal Karyotype ◽  
Increased Nuchal Translucency ◽  
Structural Anomalies

Objectives: To assess clinical implications of increased nuchal translucency (INT) in twin pregnancies based on the chorionicity. Methods: This was a retrospective review of the twin pregnancies who underwent first trimester ultrasound with nuchal translucency (NT) measurement at 11-13 weeks of gestation from January 2006 to December 2014. Data were collected using the OB database and the chart review. Pregnancy outcomes including gestational weeks at the delivery, abnormal fetal karyotypes, fetal structural anomalies, twin specific complications were analyzed. Results: A total of 1,622 twin pregnancies with INT≥95th percentile in one or both fetuses were identified. In all twin pregnancies with INT, abnormal fetal karyotypes were identified in 17 (8.6%) patients (odds ratio=13.28, CI=5.990-29.447, P=0.000) and twin-specific complications were identified in 23 (11.6%) patients (odds ratio=2.398, CI=1.463-3.928, P=0.001) compared to those with normal NT. Among the INT group, when the groups were subdivided into monochorionic (MC) and dichorionic (DC) pregnancies, 14.8% and 29.6% of the MC pregnancies had structural anomalies in one or both fetuses (odds ratio=5.774, 95% CI=1.445-23.071, P=0.01) and twin-specific complications (odds ratio=4.379, 95% CI=1.641-11.684, P=0.03), respectively, compared to DC pregnancies. The prevalence of abnormal fetal karyotypes was not statistically different in patients with INT when compared between MC and DC pregnancies (P=0.329). Conclusions: INT was associated with a higher rate of twin-specific complications and fetal structural anomalies in MC twin pregnancies rather than abnormal fetal karyotype. Therefore, NT measurement in MC twin pregnancies can be a useful tool for prediction of adverse pregnancy outcomes. Appropriate counseling and surveillance based on the chorionicity is imperative in prenatal care of twin pregnancies.

Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound

2001 ◽  
Vol 17 (2) ◽  
pp. 160-162 ◽  
Author(s):  
S. Tercanli ◽  
P. Miny ◽  
M. S. Siebert ◽  
I. Hösli ◽  
D. V. Surbek ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

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 Clinical Utility of Increased Nuchal Translucency at 11–13 Weeks of Gestation in Twin Pregnancies Based on the Chorionicity

2021 ◽  
Vol 10 (3) ◽  
pp. 433
Author(s):  
SiWon Lee ◽  
Hyun-Mi Lee ◽  
You Jung Han ◽  
Moon Young Kim ◽  
Hye Yeon Boo ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Odds Ratio ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Adverse Pregnancy ◽  
Twin Pregnancies ◽  
First Trimester Ultrasound ◽  
Fetal Karyotype ◽  
Increased Nuchal Translucency ◽  
Structural Anomalies

To assess clinical implications of increased nuchal translucency (INT) in twin pregnancies based on the chorionicity. This was a retrospective review of the twin pregnancies who underwent first trimester ultrasound with nuchal translucency (NT) measurement at 11–13 weeks of gestation from January 2006 to December 2014. Data were collected using the OB database and the chart review. Pregnancy outcomes, including gestational weeks at the delivery, abnormal fetal karyotypes, fetal structural anomalies, and twin-specific complications, were analyzed. A total of 1622 twin pregnancies with INT ≥ 95th percentile in one or both fetuses were identified. In all twin pregnancies with INT, abnormal fetal karyotypes were identified in 17 (8.6%) patients (odds ratio = 13.28, CI = 5.990–29.447, p = 0.000) and twin-specific complications were identified in 23 (11.6%) patients (odds ratio = 2.398, CI = 1.463–3.928, p = 0.001) compared to those with normal NT. Among the INT group, when the groups were subdivided into monochorionic (MC) and dichorionic (DC) pregnancies, 14.8% and 29.6% of the MC pregnancies had structural anomalies in one or both fetuses (odds ratio = 5.774, 95% CI = 1.445–23.071, p = 0.01) and twin-specific complications (odds ratio = 4.379, 95% CI = 1.641–11.684, p = 0.03), respectively, compared to DC pregnancies with 2.9% for structural anomalies and 8.8% for twin-specific complications. The prevalence of abnormal fetal karyotypes was not statistically different in patients with INT when compared between MC and DC pregnancies (p = 0.329). INT was associated with a higher rate of twin-specific complications and fetal structural anomalies in MC twin pregnancies rather than abnormal fetal karyotype. Therefore, NT measurement in MC twin pregnancies can be a useful tool for predicting adverse pregnancy outcomes. Appropriate counseling and surveillance based on the chorionicity are imperative in the prenatal care of twin pregnancies.

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