Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18

Abstract Background Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center. Methods A total of 24,702 pregnant women were retrospectively analyzed at the Women and Children’s Hospital from January 2013 to April 2019, among which expanded NIPT had been successfully conducted in 24,702 pregnant women. The high-risk expanded NIPT results were validated by karyotype analysis and chromosomal microarray analysis. All the tested pregnant women were followed up for pregnancy outcomes. Results Of the 24,702 cases, successful follow-up was conducted in 98.77% (401/446) of cases with common trisomies and SCAs, 91.95% (80/87) of RAT and CNV cases, and 76.25% (18,429/24,169) of cases with low-risk screening results. The sensitivity of expanded NIPT was 100% (95% confidence interval[CI], 97.38–100%), 96.67%(95%CI, 82.78–99.92%), and 100%(95%CI, 66.37–100.00%), and the specificity was 99.92%(95%CI, 99.87–99.96%), 99.96%(95%CI, 99.91–99.98%), and 99.88% (95%CI, 99.82–99.93%) for the detection of trisomies 21, 18, and 13, respectively. Expanded NIPT detected 45,X, 47,XXX, 47,XXY, XYY syndrome, RATs, and CNVs with positive predictive values of 25.49%, 75%, 94.12%, 76.19%, 6.45%, and 50%, respectively. The women carrying fetuses with Trisomy 21/Trisomy 18/Trisomy 13 underwent invasive prenatal diagnosis and terminated their pregnancies at higher rates than those at high risk for SCAs, RATs, and CNVs. Conclusions Our study demonstrates that the expanded NIPT detects fetal trisomies 21, 18, and 13 with high sensitivity and specificity. The accuracy of detecting SCAs, RATs, and CNVs is still relatively poor and needs to be improved. With a high-risk expanded NIPT result, the women at high risk for common trisomies are more likely to undergo invasive prenatal diagnosis procedures and terminate their pregnancies than those with unusual chromosome abnormalities.

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Aplasia cutis congenita associated with trisomy 13

Actas Dermo-Sifiliográficas ◽

10.1016/j.ad.2020.05.013 ◽

2021 ◽

Author(s):

J Martinez-Coronado ◽

Y Chong-Cazares

Keyword(s):

Trisomy 13 ◽

Aplasia Cutis Congenita ◽

Aplasia Cutis

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Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

Genes ◽

10.3390/genes12040478 ◽

2021 ◽

Vol 12 (4) ◽

pp. 478

Author(s):

Yunli Lai ◽

Xiaofan Zhu ◽

Sheng He ◽

Zirui Dong ◽

Yanqing Tang ◽

...

Keyword(s):

Sex Chromosome ◽

Chromosomal Abnormalities ◽

False Negative ◽

Prenatal Testing ◽

Read Depth ◽

Trisomy 13 ◽

Prognostic Information ◽

Aneuploidy Screening ◽

Predictive Values ◽

Risk Result

To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully conducted in 1160 fetuses reported with a high-risk result by NIPS and 82,511 cases (95.7%) with a low-risk result. The screen-positive rate (SPR) of common aneuploidies and sex chromosome abnormalities (SCAs) provided by NIPS were 0.7% (586/83,671) and 0.6% (505/83,671), respectively. The positive predictive values (PPVs) for Trisomy 21, Trisomy 18, Trisomy 13 and SCAs were calculated as 89.7%, 84.0%, 52.6% and 38.0%, respectively. In addition, less rare chromosomal abnormalities, including copy number variants (CNVs), were detected, compared with those reported by NIPS with higher read-depth. Among these rare abnormalities, only 23.2% (13/56) were confirmed by prenatal diagnosis. In total, four common trisomy cases were found to be false negative, resulting in a rate of 0.48/10,000 (4/83,671). In summary, this study conducted in an underdeveloped region with limited support for the new technology development and lack of cost-effective prenatal testing demonstrates the importance of implementing routine aneuploidy screening in the public sector for providing early detection and precise prognostic information.

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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

Journal of Perinatal Medicine ◽

10.1515/jpm-2020-0383 ◽

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.

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The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy‐13 mosaicism: New evidences and further genetic/pathogenetic insights

Pediatric Dermatology ◽

10.1111/pde.14540 ◽

2021 ◽

Author(s):

Riccardo Forconi ◽

Stefania Bigoni ◽

Lucrezia Pacetti ◽

Cristina Host ◽

Natale Schettini ◽

...

Keyword(s):

Hidradenitis Suppurativa ◽

Partial Trisomy ◽

Trisomy 13

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Fetal trisomy 13 and 21 mosaicism diagnosed at amniocentesis: a case report

Prenatal Diagnosis ◽

10.1002/pd.2322 ◽

2009 ◽

Vol 29 (10) ◽

pp. 995-997

Author(s):

Agne Velthut ◽

Maire Peters ◽

Tiiu Roovere ◽

Gerly Kilusk ◽

Nina Horelli-Kuitunen ◽

...

Keyword(s):

Case Report ◽

Trisomy 13

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Trisomy 18 Pregnancies: Is there an Increased Maternal Risk?

American Journal of Perinatology ◽

10.1055/s-0037-1603679 ◽

2017 ◽

Vol 34 (11) ◽

pp. 1054-1057

Author(s):

Kayli Senz ◽

Whitney Humphrey ◽

Vanessa Lee ◽

Aaron Caughey ◽

Sarah Dotters-Katz

Keyword(s):

International Classification Of Diseases ◽

Vital Statistics ◽

Trisomy 18 ◽

Trisomy 13 ◽

Obstetric Outcomes ◽

Maternal Risk ◽

Increased Risk ◽

Multiparous Women ◽

Classification Of Diseases ◽

The Impact

Objective Characterize the impact of a trisomy 18 (T18) fetus on maternal and obstetric outcomes in a cohort including T18-affected deliveries. Study Design Retrospective cohort study of singleton deliveries in California from 2005 to 2008 using linked vital statistics and the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9) data to compare deliveries affected by T18 to those without known aneuploidy. Outcomes of interest included gestational diabetes mellitus (GDM), preterm delivery (PTD), preeclampsia, cesarean delivery (CD), and intrauterine fetal demise (IUFD). The χ2 and paired t-tests were used to compare the outcomes. Multiple logistic regression was used to further characterize these risks and control potential confounders. Results Of 2,029,000 deliveries, 298 involved T18. Compared with unaffected deliveries, T18 was associated with GDM (10.7 vs. 6.5%, p = 0.003), PTD < 37 (40.6 vs. 9.9%, p < 0.001) and < 32 weeks (14.8 vs. 1.4%, p < 0.001), and cesarean section (56 vs. 30.2%, p < 0.001), but not preeclampsia. In adjusted analyses, T18 pregnancies were associated with an increased risk of PTD < 37 and < 32 weeks (adjusted odds ratio [AOR]: 5.48, 95% confidence interval [CI]: 4.29, 6.99; AOR: 10.4, 95% CI: 7.26, 14.8), and an increased odd of CD for primiparous and multiparous women (AOR: 2.41, 95% CI: 1.48, 3.91; AOR: 5.42, 95% CI: 3.90, 7.53). Risk of GDM did not persist. Conclusion Unlike trisomy 13 (T13), pregnancies complicated by fetal T18 did not appear to result in an increased risk of preeclampsia. However, there is an increased risk of a range of other obstetric complications.

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