Monozygotic Twins Discordant for Trisomy 13; A Case of Trisomic Rescue Supporting the Continued Need for First Trimester Ultrasound

2016 ◽  
Author(s):  
Patrick McFadden ◽  
Sarah Smithson ◽  
Robert Massaro ◽  
Jialing Huang ◽  
Gail Prado ◽  
...  
Keyword(s):  
Monozygotic Twins ◽  
First Trimester ◽  
Trisomy 13 ◽  
First Trimester Ultrasound

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.

The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities

2018 ◽  
Vol 40 (06) ◽  
pp. 743-748
Author(s):  
Ismail Tekesin
Keyword(s):  
Turner Syndrome ◽  
Trisomy 21 ◽  
Detection Rate ◽  
First Trimester ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Ultrasound Screening ◽  
Crown Rump Length ◽  
First Trimester Ultrasound

Abstract Purpose To evaluate the performance of first-trimester ultrasound screening involving a detailed anomaly scan for the detection of trisomy 18, trisomy 13, triploidy, Turner syndrome and trisomy 21. Methods Data of pregnant women who underwent aneuploidy screening at 11–13 weeks of gestation was retrospectively analyzed. Crown-rump length (CRL), fetal nuchal translucency thickness (NT) and nasal bone (NB) anatomy, blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) were assessed. Furthermore, a detailed scan for fetal anatomical anomalies (FA) was carried out. Performance of these markers was assessed by logistic regression and ROC analyses for different screening models. Results 4005 fetuses were analyzed. 3856 were euploid, 149 aneuploid (trisomy 18: 40; trisomy 13: 14; triploidy: 3; Turner syndrome: 17; trisomy 21: 75 cases). 70–100 % of the fetuses with trisomy 18 and 13, triploidy and Turner syndrome but only 34.7 % with trisomy 21 had at least one fetal defect. Considering all aneuploidies, the detection rate (DR) for screening based on MA+NT+NB+TV+DV was 90.6 % and improved to 96.0 % if an FA was added (fixed false-positive rate: 3 %). If screening was based on MA+NT+FA, the detection rate for all aneuploidies was 85.2 %. However, the DR for trisomy 18, trisomy 13, triploidy and Turner syndrome (excluding trisomy 21) was 94.6 %, indicating the high diagnostic value of an anomaly scan for these aneuploidies. Conclusion Incorporation of a detailed fetal anomaly scan (FA) into first-trimester screening algorithms can improve the detection rates for trisomy 18 and 13, triploidy and Turner syndrome.

Two Corpora Lutea Seen at 6–13 Weeks' Gestation Infers Dizygosity Among Spontaneous Same-Sexed Dichorionic Twins

2009 ◽  
Vol 12 (2) ◽  
pp. 180-182 ◽  
Author(s):  
Jean Woo ◽  
Stephen Tong ◽  
Megan J. Campbell ◽  
Leanne Wallace ◽  
Simon Meagher ◽  
...  
Keyword(s):  
Microsatellite Markers ◽  
Corpus Luteum ◽  
Case Series ◽  
Monozygotic Twins ◽  
First Trimester ◽  
Corpora Lutea ◽  
Dna Genotyping ◽  
Twin Pregnancies ◽  
First Trimester Ultrasound

AbstractCurrent ultrasound techniques can accurately determine the chorionicity of twins, but not zygosity. We previously proposed that the zygosity of spontaneously conceived twins can be determined at early ultrasound, where 2 corpora lutea infers dizygosity, and 1 implies monozygosity. Here we did a case series, comparing zygosity predicted using this method with definitive DNA genotyping of twins after birth. We retrospectively identified 14 ultrasound reports of spontaneous twin pregnancies at 6(+0 days) to 13+6 weeks' gestation, where both ovaries were seen and the number of corpora lutea documented. We visited all twin pairs, obtained buccal smears, and determined zygosity by genotyping 9 independent microsatellite markers. All 8 cases where 2 corpora lutea were seen were dizygotic pregnancies. One further case where 3 corpora lutea were seen was also dizygotic. All 3 sets of monozygotic twins had 1 corpus luteum. There were 2 cases incorrectly assigned, where 1 corpus luteum was seen in dizygotic pregnancies. We conclude if 2 corpora lutea are seen at a first trimester ultrasound of spontaneously conceived dichorionic twins, they appear to be almost certainly dizygotic. However, if 1 corpus luteum is seen in dichorionic twins, zygosity cannot be determined with certainty since it is either monozygotic, or dizygotic where a second corpus luteum has been missed.

scholarly journals Early prenatal diagnosis of parapagus conjoined twins

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Ângela Melo ◽  
Rita Dinis ◽  
António Portugal ◽  
Ana Isabel Sousa ◽  
Isabel Cerveira
Keyword(s):  
Monozygotic Twins ◽  
Primitive Streak ◽  
First Trimester ◽  
Conjoined Twins ◽  
Pathological Findings ◽  
Live Births ◽  
Thoracic Level ◽  
The Family ◽  
First Trimester Ultrasound ◽  
Ultrasound Features

Conjoined twinning occurs in 1/100 of monozygotic twins, 1/50,000 gestations and 1/250,000 live births. It is the consequence of a division event at the primitive streak stage of the human embryonic development, about 13-14 days after fertilisation, in monochorionic monoamniotic gestations. A healthy pregnant woman, Gravida 2 Para 1, was admitted into our Fetal Medicine Unit to perform the first trimester ultrasound. A diagnosis of conjoined parapagus twinning based on ultrasound features was made at 11 weeks of gestation, and the couple decided to terminate the pregnancy. The ultrasound showed two independent skulls and hearts, a shared spine below the thoracic level, and a shared stomach. The pathological findings were slightly different, showing two independent stomachs draining into a common duodenum. The karyotype was 46 XY. Early prenatal ultrasound may provide a window to counsel the family and to offer an early termination of pregnancy.

Crown–rump length measurement: a new age for first‐trimester ultrasound?

2021 ◽  
Author(s):  
J. Stirnemann ◽  
M. Massoud ◽  
N. Fries ◽  
C. Dumont ◽  
G. Haddad ◽  
...  
Keyword(s):  
First Trimester ◽  
New Age ◽  
Length Measurement ◽  
Crown Rump Length ◽  
First Trimester Ultrasound

First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Bartosz Rajs ◽  
Agnieszka Nocuń ◽  
Anna Matyszkiewicz ◽  
Marcin Pasternok ◽  
Michał Kołodziejski ◽  
...  
Keyword(s):  
Heart Defects ◽  
False Positive Rate ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Patau Syndrome ◽  
A Prospective Study ◽  
Cns Anomalies

AbstractObjectivesTo identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. Methods: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. Results: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. Conclusions: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

415: The utility of first trimester ultrasound for women with a negative free fetal DNA

2015 ◽  
Vol 212 (1) ◽  
pp. S216-S217
Author(s):  
Emily Reiff ◽  
Bryann Bromley ◽  
Lori Dobson ◽  
Sarah Little
Keyword(s):  
First Trimester ◽  
Fetal Dna ◽  
First Trimester Ultrasound
Sign in / Sign up

Export Citation Format

Share Document