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American Journal of Medical Genetics.... Feb 2022Trisomy 13 and 18 are common chromosomal abnormalities that affect multiple organ systems. There is a paucity of published data, however, on the hepatic complications...
Trisomy 13 and 18 are common chromosomal abnormalities that affect multiple organ systems. There is a paucity of published data, however, on the hepatic complications seen in these patient populations. One of the most common pathologic hepatobiliary issues seen in the newborn period is direct hyperbilirubinemia (DH). Thus, this study sought to estimate the incidence and evaluate possible etiologies of DH in neonates with trisomy 13 or 18. This retrospective cohort study included all infants admitted to our two neonatal intensive care units between 2012 and 2020 with the diagnosis of trisomy 13 or 18. DH is most commonly diagnosed as a direct bilirubin >1 mg/dl but a cutoff of >2 mg/dl is more specific for cholestasis, so both cutoffs were evaluated. Continuous data were compared using Fisher's exact test and categorical variables by the Mann-Whitney U test. Thirty-five patients met inclusion: 13 with trisomy 13 and 22 with trisomy 18. DH of >2 mg/dl was seen in seven (53.8%) patients with trisomy 13 and five (22.7%) with trisomy 18. Using a cutoff of >1 mg/dl, the rate of trisomy 13 was unchanged, but the rate in trisomy 18 increased to 9/22 (40.9%). There was a trend toward more DH in trisomy 13 patients (p = 0.079) versus trisomy 18 and higher rates in infants who received total parenteral nutrition (TPN) (50.0 vs. 13.3%, p = 0.026). The presence of cardiac or ultrasound-defined hepatobiliary abnormalities was not correlated with DH. Due to the high rates of DH in hospitalized neonates with trisomy 13 and 18, we recommend screening newborns with trisomy 13 or 18 for DH starting in the first week of life and continuing at least weekly until 4 weeks of life or until completion of TPN, whichever comes later. Future studies should further evaluate possible etiologies of DH in this population.
Topics: Cholestasis; Humans; Hyperbilirubinemia; Infant; Infant, Newborn; Parenteral Nutrition, Total; Retrospective Studies; Trisomy 13 Syndrome
PubMed: 34719838
DOI: 10.1002/ajmg.a.62552 -
Journal of Clinical Medicine Mar 2022Autosomal aneuploidies are the most frequently occurring congenital abnormalities and are related to many metabolic disorders, hormonal dysfunctions, neurotransmitter... (Review)
Review
Autosomal aneuploidies are the most frequently occurring congenital abnormalities and are related to many metabolic disorders, hormonal dysfunctions, neurotransmitter abnormalities, and intellectual disabilities. Trisomies are generated by an error of chromosomal segregation during cell division. Accumulating evidence has shown that deregulated gene expression resulting from the triplication of chromosomes 13 and 18 is associated with many disturbed cellular processes. Moreover, a disturbed oxidative stress status may be implicated in the occurrence of fetal malformations. Therefore, a literature review was undertaken to provide novel insights into the evaluation of trisomy 13 (T13) and 18 (T18) pathogeneses, with a particular concern on the oxidative stress. Corresponding to the limited literature data focused on factors leading to T13 and T18 phenotype occurrence, the importance of oxidative stress evaluation in T13 and T18 could enable the determination of subsequent disturbed metabolic pathways, highlighting the related role of mitochondrial dysfunction or epigenetics. This review illustrates up-to-date T13 and T18 research and discusses the strengths, limitations, and possible directions for future studies. The progressive unification of trisomy-related research protocols might provide potential medical targets in the future along with the implementation of the foundation of modern prenatal medicine.
PubMed: 35407395
DOI: 10.3390/jcm11071787 -
NeoReviews Jan 2023Trisomy 13 is the third most common autosomal aneuploidy disorder and is associated with a number of congenital malformations. Survival of infants with trisomy 13 has...
Trisomy 13 is the third most common autosomal aneuploidy disorder and is associated with a number of congenital malformations. Survival of infants with trisomy 13 has improved over time as life-prolonging technological interventions are more commonly offered. In this article, we describe the course of a child with trisomy 13 who has been followed at our hospital since infancy and explore the changing landscape of care for children with trisomy 13.
Topics: Infant, Newborn; Humans; Trisomy 13 Syndrome; Intensive Care Units, Neonatal
PubMed: 36587011
DOI: 10.1542/neo.24-1-e51 -
Journal of Perinatal Medicine Jun 2021The aim of this study was to investigate the correlation between fetal thymus size measured during first-trimester screening and chromosomal anomalies.
OBJECTIVES
The aim of this study was to investigate the correlation between fetal thymus size measured during first-trimester screening and chromosomal anomalies.
METHODS
This study is a retrospective evaluation, in which the anterior-posterior diameter of the thymus in a midsagittal plane was measured in first-trimester ultrasound between 11 and 13 weeks of gestation in 168 fetuses with chromosomal anomalies (study group) and 593 healthy fetuses (control group). The included cases were subdivided into six groups: (1) trisomy 21, (2) trisomy 18, (3) trisomy 13, (4) Turner syndrome, (5) triploidy and (6) normal controls. Thymus size measurements were adjusted to the week of gestation, which was determined by ultrasound using crown-rump-length (CRL), by calculating a ratio between CRL and thymus size (CRL-thymus-ratio). Each study group was compared with the control group separately.
RESULTS
Thymus size in fetuses affected by trisomy 18 or trisomy 13 was noticeably smaller compared to the control group (1.4 mm [1.3, 1.5] and 1.3 mm [1.2, 1.4] vs. 1.8 mm [1.6, 2.1]; all p<0.001; respectively). The thymus size of fetuses with trisomy 21 and Turner syndrome did not differ from healthy fetuses. Between the CRL-thymus-ratios of the separate study groups no statistically noticeable differences could be found.
CONCLUSIONS
Fetal thymus size appeared to be smaller in pregnancies affected by trisomy 18 and trisomy 13. The predictive value of fetal thymus size in first-trimester screening should be evaluated prospectively.
Topics: Adult; Chromosome Disorders; Female; Fetus; Humans; Male; Organ Size; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Reproducibility of Results; Thymus Gland; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Ultrasonography, Prenatal
PubMed: 33561911
DOI: 10.1515/jpm-2020-0599 -
The Cleft Palate-craniofacial Journal :... Oct 2023Patau syndrome (trisomy 13) is a severe disorder associated with multiple systemic defects. Patau syndrome is commonly associated with ocular abnormalities but rarely...
Patau syndrome (trisomy 13) is a severe disorder associated with multiple systemic defects. Patau syndrome is commonly associated with ocular abnormalities but rarely associated with congenital glaucoma. To obtain a better surgical view, palatoplasty requires neck extension during surgery. The intraocular pressure (IOP) of patients with Patau syndrome can increase owing to the neck extension position while undergoing palatoplasty, particularly in those with congenital glaucoma. Here, we describe a case with increased IOP measured using a rebound tonometer during palatoplasty in a pediatric patient with Patau syndrome and congenital glaucoma. This case shows that it may be important to reduce the degree of neck extension and shorten the operation time to minimize any increase in the IOP during palatoplasty in pediatric patients with Patau syndrome accompanied by congenital glaucoma.
Topics: Humans; Child; Intraocular Pressure; Trisomy 13 Syndrome; Tonometry, Ocular; Glaucoma; Cleft Palate
PubMed: 35473400
DOI: 10.1177/10556656221097209 -
Ultrasound in Obstetrics & Gynecology :... Aug 2017To examine the sphenofrontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare findings with those of a euploid...
OBJECTIVE
To examine the sphenofrontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare findings with those of a euploid population.
METHODS
The database at our unit was searched to identify pregnancies with a diagnosis of trisomy 21, 18 or 13, triploidy or Turner syndrome after 15 weeks' gestation. Stored ultrasound images obtained between 19 and 22 weeks were reviewed. For the normal population, two euploid fetuses matched for gestational age were selected randomly for each aneuploid case. The SFD was measured from the anterior edge of the sphenoid bone to the lowest posterior edge of the frontal bone using on-screen calipers. The SFD measurement was parallel to the long axis of the maxilla. If the sphenoid bone did not extend superiorly enough for direct measurement of the SFD, a tangential line was drawn at the anterior wall of the sphenoid bone and extended cranially. In these cases, the distance between the extended line and the frontal bone was measured. One operator measured the SFD twice and was blinded to the results and karyotype.
RESULTS
The study population consisted of 591 pregnancies: 394 euploid fetuses, 122 fetuses with trisomy 21, 45 with trisomy 18, 16 with trisomy 13, eight with Turner syndrome and six with triploidy. For both euploid and aneuploid groups, mean gestational age at examination was 22.8 (range: euploid, 15.0-40.7; aneuploid, 15.0-40.3) weeks. For euploid fetuses, mean SFD was 1.27 cm and measurements ranged from 0.53 cm to 2.56 cm. SFD was significantly dependent on gestational age (SFD = 0.138 + 0.005 × gestational age, P < 0.001, r = 0.802). Mean SFD was significantly smaller in each aneuploid group compared with the euploid population (trisomies 21, 18 and 13: all P < 0.001; triploidy: P = 0.026; Turner syndrome: P = 0.047). For 32 (26.2%), nine (20.0%) and six (37.5%) fetuses with trisomy 21, 18 and 13, respectively, SFD was < 5 percentile. Only one (12.5%) fetus with Turner syndrome and none with triploidy had SFD < 5 percentile.
CONCLUSION
In aneuploid fetuses, the SFD is smaller than in their euploid counterparts. However, for a false-positive rate of 5%, the detection rate of trisomy 21 is only 26%. Therefore, using the method we have proposed, it is unlikely that this marker will play a major role in second- and third-trimester screening for aneuploidy. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Adolescent; Adult; Chromosome Disorders; Down Syndrome; Female; Frontal Bone; Gestational Age; Humans; Imaging, Three-Dimensional; Middle Aged; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Retrospective Studies; Sphenoid Bone; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Turner Syndrome; Ultrasonography, Prenatal; Young Adult
PubMed: 27550089
DOI: 10.1002/uog.17284 -
Cureus Sep 2021Trisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a...
Trisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a percentage of the cells are trisomic for chromosome 13, while the remaining cells are euploid. Patau syndrome has a limited survival rate, and most of the carriers die before completing the first year of life. Unlike Patau syndrome, mosaic trisomy 13 is known for longer survival. It is associated with central nervous system malformations, cardiac defects, and psychomotor delay. We report a six-year-old male patient, the third child of a first-degree consanguinity. Born at term via emergency cesarean section due to meconium-stained amniotic fluid and fetal distress. Apgar score nine at one minute and nine at five minutes. Initial examination showed typical dysmorphic features like deep-seated eyes, small palpebral fissure, low set of ears, high arched palate, short neck, and right-hand polydactyly. The diagnosis was made through chromosomal analysis, and it revealed mosaic trisomy 13.
PubMed: 34722094
DOI: 10.7759/cureus.18346 -
Pediatric Cardiology Oct 2020There has been substantial controversy regarding treatment of congenital heart defects in infants with trisomies 13 and 18. Most reports have focused on surgical... (Review)
Review
There has been substantial controversy regarding treatment of congenital heart defects in infants with trisomies 13 and 18. Most reports have focused on surgical outcomes versus expectant treatment, and rarely there has been an effort to consolidate existing evidence into a more coherent way to help clinicians with decision-making and counseling families. An extensive review of the existing literature on cardiac surgery in patients with these trisomies was conducted from 2004 to 2020. The effects of preoperative and perioperative factors on in-hospital and long-term mortality were analyzed, as well as possible predictors for postoperative chronic care needs such as tracheostomy and gastrostomy. Patients with minimal or no preoperative pulmonary hypertension and mechanical ventilation undergoing corrective surgery at a weight greater than 2.5 kg suffer from lower postoperative mortality. Infants with lower-complexity cardiac defects are likely to benefit the most from surgery, although their expected mortality is higher than that of infants without trisomy. Omphalocele confers an increased mortality risk regardless of cardiac surgery. Gastrointestinal comorbidities increased the risk of gastrostomy tube placement, while those with prolonged mechanical ventilation and respiratory comorbidities are more likely to require tracheostomy. Cardiac surgery is feasible in children with trisomies 13 and 18 and can provide improved long-term results. However, this is a clinically complex population, and both physicians and caretakers should be aware of the long-term challenges these patients face following surgery when discussing treatment options.
Topics: Cardiac Surgical Procedures; Child; Child, Preschool; Clinical Decision-Making; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Male; Practice Guidelines as Topic; Respiration, Artificial; Risk Factors; Tracheostomy; Treatment Outcome; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 32924070
DOI: 10.1007/s00246-020-02444-6 -
Ultrasound in Obstetrics & Gynecology :... Mar 2015To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies.
METHODS
Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published, and 4 January 2015.
RESULTS
In total, 37 relevant studies were identified and these were used for the meta-analysis on the performance of cfDNA testing in screening for aneuploidies. These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome. Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.2% (95% CI, 98.5-99.6%) and 0.09% (95% CI, 0.05-0.14%), respectively, for trisomy 21, 96.3% (95% CI, 94.3-97.9%) and 0.13% (95% CI, 0.07-0.20) for trisomy 18, 91.0% (95% CI, 85.0-95.6%) and 0.13% (95% CI, 0.05-0.26%) for trisomy 13, 90.3% (95% CI, 85.7-94.2%) and 0.23% (95% CI, 0.14-0.34%) for monosomy X and 93.0% (95% CI, 85.8-97.8%) and 0.14% (95% CI, 0.06-0.24%) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR for trisomy 21 was 93.7% (95% CI, 83.6-99.2%) and the FPR was 0.23% (95% CI, 0.00-0.92%).
CONCLUSION
Screening for trisomy 21 by analysis of cfDNA in maternal blood is superior to that of all other traditional methods of screening, with higher DR and lower FPR. The performance of screening for trisomies 18 and 13 and sex chromosome aneuploidies is considerably worse than that for trisomy 21.
Topics: Cell-Free System; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Chromosomes, Human, X; Chromosomes, Human, Y; Down Syndrome; Female; Humans; Karyotyping; Maternal Serum Screening Tests; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Sequence Analysis, DNA; Sex Chromosome Aberrations; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 25639627
DOI: 10.1002/uog.14791 -
Harefuah Sep 2014The increase in maternal age at birth, especially in modern countries, has led to increased prevalence of trisomies and other chromosomal disorders. Recently, with the...
The increase in maternal age at birth, especially in modern countries, has led to increased prevalence of trisomies and other chromosomal disorders. Recently, with the discovery of the possibility to test cell free fetal DNA (cffDNA) in maternal blood, the role of the screening methods applied to detect fetuses with trisomies and triploidy, i.e. the nuchal translucency and the first and second trimester biochemical markers and fetal anomaly scan, are questionable. Meanwhile, most studies stilL show that cffDNA have a certain percentage of false positive and false negative results and different detection rates depending on the method used to analyze the fetal DNA. Meanwhile the vast majority of trisomy 13 and 18 triploidy is detected using biochemical screening and ultrasound. Therefore, the conventional screening methods should be applied and suspected cases should be karyotyped using an invasive test until we gain more experience in the cffDNA tests.
Topics: Biomarkers; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Female; Humans; Maternal Age; Nuchal Translucency Measurement; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Prenatal Diagnosis; Triploidy; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 25417487
DOI: No ID Found