Trisomy 18 Syndrome

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.

Also Known As:

Networked: 476 relevant articles (9 outcomes, 45 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Down Syndrome (Down's Syndrome)
2.	Trisomy 13 Syndrome
3.	Aneuploidy (Aneuploid)
4.	Triploidy
5.	Congenital Heart Defects (Congenital Heart Defect)

Experts

1.	Nicolaides, K H: 16 articles (01/2021 - 07/2000)
2.	Nicolaides, Kypros H: 12 articles (01/2014 - 10/2002)
3.	Chen, Chih-Ping: 7 articles (07/2022 - 03/2011)
4.	Gil, M M: 7 articles (01/2021 - 01/2014)
5.	Wang, Wayseen: 6 articles (07/2022 - 03/2011)
6.	Chern, Schu-Rern: 5 articles (07/2022 - 06/2011)
7.	Li, Dong-Zhi: 5 articles (02/2021 - 11/2019)
8.	Zhen, Li: 5 articles (02/2021 - 11/2019)
9.	Palomaki, Glenn E: 5 articles (11/2018 - 03/2003)
10.	Chiu, Rossa W K: 5 articles (07/2013 - 12/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Trisomy 18 Syndrome:

1.	dichlorobis(azomycin)platinum IIIBA 11/01/2019 - "During a four-year period, the pregnant women who were referred for invasive genetic testing because of positive NIPT results for trisomy 18/13 were included in this study. " 11/01/2019 - "The aim of this study was to evaluate the usefulness of ultrasound in pregnancies with a positive non-invasive prenatal testing (NIPT) result for trisomy 18/13. " 05/01/2023 - "NIPT is useful for rapid prenatal diagnosis of recurrent trisomy 18 under such a circumstance." 07/01/2022 - "The fourth amniocentesis at 32 weeks of gestation revealed a karyotype of 46,XX [20/20] in cultured amniocytes, and in uncultured amniocytes, aCGH revealed 50%-60% mosaicism for trisomy 18, FISH revealed 21.8% (22/101 cells) mosaicism for trisomy 18, and non-invasive prenatal testing (NIPT) showed chromosome 18 gene dosage increase in the maternal blood. " 07/01/2021 - "Fluorescent-labeled primers were designed and then used in fluorescence quantitative polymerase chain reaction (FQ-PCR) composite amplification, capillary electrophoresis typing, and gene fragment analysis technology to detect 64 amniotic fluid samples, which were indicated high risks of trisomy 18 and 21 by non-invasive prenatal diagnostic technology (NIPT). "
2.	DNA (Deoxyribonucleic Acid)IBA 05/01/2023 - "QF-PCR assays on the DNA extracted from parental bloods and cultured amniocytes determined a maternal origin of trisomy 18. " 05/01/2023 - "Quantitative fluorescent polymerase chain reaction (QF-PCR) assays on the DNA extracted from parental bloods and umbilical cord determined a maternal origin of trisomy 18. " 01/01/2023 - "Prenatal and fetal diagnosis of trisomy 18 after low-risk cell-free fetal DNA screening: A report of four cases." 09/01/2019 - "Data from a Reflex DNA screening programme (67 trisomy 18 and 83 unaffected pregnancies) were used to compare the ratio of chromosome 18 DNA fragment counts to chromosome 8 DNA fragment counts (because chromosome 8 has a similar GC content to chromosome 18) with the percentage of chromosome 18 DNA counts using counts from all autosomes in the denominator, with and without an all autosome correction for the GC content of the DNA fragments. " 01/01/2015 - "Trisomy 18 was diagnosed by DNA analysis post abortem. "
3.	Biomarkers (Surrogate Marker)IBA 12/01/2018 - "To assess whether the accuracy of risk estimation in antenatal screening for trisomy 18 using the Combined test can be improved by revising the truncation limits of two serum markers. " 03/01/2023 - "The aim of this study is to describe a 4-year-old female patient of mosaic trisomy 18 with normal prenatal ultrasound findings and maternal serum markers and to investigate the relationship between the percentage of trisomic cells and the major clinical phenotypes combined with other nine patients through a review of the literature. " 12/01/2018 - "Serum marker truncation limits in first trimester antenatal screening for trisomy 18." 03/01/2003 - "Published and new observations of maternal serum marker levels in trisomy 18 and unaffected pregnancies are used to derive population parameters. " 07/01/2002 - "Second trimester two-step trisomy 18 screening using maternal serum markers."
4.	alpha-Fetoproteins (alpha-Fetoprotein)IBA 12/01/2022 - "To evaluate the effectiveness of alpha-fetoprotein variants (AFP-L2, AFP-L3) in fetal screening for Trisomy 18 in place of alpha fetoprotein (AFP). " 12/01/2022 - "Effectiveness of alpha-fetoprotein variants L2 and L3 as substitutes of alpha-fetoprotein in screening for fetal Trisomy 18." 11/01/2010 - "Forty-eight women screened positive for trisomy 18 by second-trimester biochemical screening with human chorionic gonadotrophin (hCG) and alpha fetoprotein (AFP). " 12/04/1993 - "Maternal serum alpha fetoprotein and free beta human chorionic gonadotrophin concentrations were significantly lower in pregnancies complicated by trisomy 18 (median values 0.71 and 0.37 respectively). " 05/01/1992 - "The alpha-fetoprotein levels in the 10 trisomy 18 pregnancies without open neural tube or ventral wall defect had a median of 0.65 multiple of the median, although two had alpha-fetoprotein levels above 2.5 multiples of the median. "
5.	Anticonvulsants (Antiepileptic Drugs)IBA 03/01/2015 - "We retrospectively reviewed the clinical records of neonates with trisomy 18 who were born at Anjo Kosei Hospital between July 2004 and October 2013 and investigated whether they had epileptic apneas during the neonatal period and whether antiepileptic drugs (AEDs) were effective for treating them. "
6.	Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA 01/01/2020 - "Maternal β-hCG and PAPP-A MoM results presented less then 0.2 might be used independently of NT widening in fetus for trisomy 18 risk evaluation. " 01/01/2020 - "There were no significant differences between groups with normal fetal karyotype (40%) and trisomy 18 (35%) in PAPP-A and β-hCG MoM 0.2-0.5 range. " 01/01/2020 - "In 26% of cases, PAPP-A and β-hCG MoM values < 0.2 were NT-independent risk factors for trisomy 18. " 01/01/2020 - "PAPP-A and β-hCG MoM values < 0.3 were found in 61% cases of fetal trisomy 18. " 04/01/2019 - "Two had combined first-trimester screening performed where one had a high-risk result for trisomy 18 and a low pregnancy-associated plasma protein-A level. "
7.	Cell-Free Nucleic AcidsIBA 09/01/2021 - "Among the 12 cases in which cfDNA was performed at two time points, fading of contaminating cfDNA was observed in four cases with a sex discrepancy and in one false positive for trisomy 18, resulting in a final correct result. " 09/01/2020 - "Confirmative testing was declined in the two cases with positive cfDNA for trisomy 18/13, and postnatal placental investigation showed confined placental mosaicism with normal karyotype in the cord blood of newborns. " 01/01/2019 - "To determine the false-positive rates (FPR) associated with screening for trisomy 18/13 using first-trimester combined screening (FTCS) and an ultrasound plus cfDNA-based approach (US-cfDNA), which includes a detailed ultrasound examination, a cfDNA analysis and a FTCS reflex backup test for cases with uninformative results. " 08/11/2015 - "Our cases found a normal cfDNA test result followed by a 20 weeks anatomical ultrasound detected a false negative trisomy 18 cfDNA result. " 04/01/2012 - "In this study, chromosome-selective sequencing of cell-free DNA separated all cases of trisomy 21 and 98% of trisomy 18 from euploid pregnancies."
8.	Chorionic Gonadotropin (Human Chorionic Gonadotropin)FDA LinkGeneric 05/01/1992 - "Although most women with trisomy 18 pregnancies had serum human chorionic gonadotropin levels that were less than 1.0 multiple of the median, three had markedly elevated human chorionic gonadotropin levels (greater than 5.0 multiples of the median). " 08/01/1990 - "Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18." 03/01/2000 - "Two cases with trisomy 18, 1 with trisomy 13 and 1 with isochromosome X showed extremely low human chorionic gonadotropin levels (0.4 +/- 0.1 multiples of the median, mean +/- SE), although they were screen negative. " 01/01/2020 - "The aim of the study was to evaluate the significance of the maternal blood level of pregnancy-associated plasma protein A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (β-hCG), to estimate the risk of fetal trisomy 18 and their correlation with the assessment of nuchal translucency (NT) during the first prenatal testing. " 09/01/1998 - "The aim of this study was to evaluate the feasibility of first-trimester biochemical screening for trisomy 18, by using pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (hCG) in combination with maternal age. "
9.	N-(4-isothiocyanatophenethyl)spiperoneIBA 01/01/2023 - "We review four cases seen by our institutions of patients who had NIPS performed with low-risk results and subsequently had fetuses affected with trisomy 18. " 01/01/2021 - "Pregnant women [age at expected date of confinement (EDC) of <35 years; low risks for trisomy 21 (T21) and trisomy 18 (T18) based on maternal serum screening; presenting second-trimester USMs (7 types)] who successfully underwent NIPS and had available follow-up information were included in our study. " 08/01/2019 - "In current study, we investigated the genetic basis of a T18 fetus with a discordant trisomy 5 (T5) positive and trisomy 18 (T18) negative NIPS result. " 10/01/2023 - "Of five positive NIPS calls, four were correctly identified as trisomy 21 (one) and trisomy 18 (three); there were no NIPS false negatives. " 01/01/2020 - "We analyzed retrospectively results from 58 105 singleton pregnancies that underwent NIPS on a customized WGS platform during an 8-month period and assessed clinical test performance for trisomy 21, trisomy 18 and trisomy 13. "
10.	Genetic Markers (Genetic Marker)IBA 05/01/2021 - "QF-PCR analysis using the polymorphic DNA markers of D18S1369 (18q12.2) and D18S1361 (18q22.3) confirmed trisomy 18 of maternal origin. " 07/01/2020 - "Fetal trisomy 18 in pregnancies conceived by ART may be of paternal origin, and determination of paternal origin by polymorphic DNA marker analysis is useful for genetic counseling under such a circumstance." 07/01/2020 - "Polymorphic DNA marker analysis on the DNAs extracted from the umbilical cord and parental bloods showed a paternal origin of the extra chromosome 18, indicating a paternal origin of fetal trisomy 18. " 06/16/2016 - "D18S53, D18S59, and D18S488 loci are good genetic markers of chromosome 18, and show potential for use in the prenatal genetic diagnosis of Edwards' syndrome. " 01/11/1996 - "Six of 100 cytogenetic studies were aneuploid; one anencephalic fetus had inherited a maternal marker chromosome, and 5 NTD cases had trisomy 18. "

Therapies and Procedures

1.	Critical Care (Surgical Intensive Care) 03/01/2016 - "Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments." 01/01/2023 - "Therefore, we compared the survival-related outcomes of neonates with trisomy 18 between intensive and non-intensive care. " 01/01/2019 - "Infants with trisomy 18 (T18) previously had a poor prognosis; however, the intensive care of these patients has markedly diversified the prognosis. " 11/01/2003 - "Intensive care in an adolescent with trisomy 18: an ethical dilemma." 01/01/2023 - "Significant improvement in survival outcomes of trisomy 18 with neonatal intensive care compared to non-intensive care: a single-center study."
2.	Palliative Care (Palliative Therapy) 11/01/2023 - "Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow." 04/01/2023 - "In the post-natal period, the management of a newborn with trisomy 18 is oriented towards palliative care. " 01/01/2023 - "The syndrome has historically been considered lethal owing to its poor prognosis, and palliative care was primarily indicated for trisomy 18 neonates. " 01/01/2020 - "Parental experience of hope in pediatric palliative care: Critical reflections on an exemplar of parents of a child with trisomy 18." 01/01/2019 - "Further research is needed to understand the experience of children with trisomy 18 and their families receiving pediatric palliative care services."
3.	Neonatal Intensive Care 08/01/2009 - "The clinical presentations and survival patterns of infants with trisomy 18 have changed with increasing utilization of prenatal ultrasound and amniocentesis, and improvements in neonatal intensive care. " 01/01/2023 - "Significant improvement in survival outcomes of trisomy 18 with neonatal intensive care compared to non-intensive care: a single-center study." 01/01/2023 - "Although there have been several reports on the improvement of survival outcomes in infants with trisomy 18 syndrome through neonatal intensive care, few studies have compared the impact of neonatal intensive care on survival outcomes with that of non-intensive care. "
4.	Resuscitation 10/01/2016 - "Ninety-five percent (95%) would never recommend or recommend only if asked full code resuscitation for a neonate with full trisomy 18, yet, 44% would comply partially or in full with a full code request for resuscitation measures. " 06/01/2008 - "Until recently, there was universal consensus that trisomy 18 was a lethal anomaly for which resuscitation in the delivery room was not indicated. " 06/01/2008 - "The objective of this study was to determine the attitude of neonatal providers toward delivery room resuscitation of an infant with confirmed trisomy 18 with known congenital heart disease at >/=36 weeks of gestation. " 01/01/2022 - "Resuscitation of newborns with trisomy 18 or trisomy 13 by neonatologists was significantly associated with working in the public sector, religious beliefs, and legal framework. " 06/01/2008 - "These data indicate that more providers (44%) than anticipated would consider initiation of resuscitation for an infant with trisomy 18 even with congenital heart disease. "
5.	Airway Management 01/01/2023 - "Difficult airway management in children with trisomy 18: a retrospective single-centre study of incidence, outcomes, and complications." 09/01/2023 - "Children with trisomy 18 have abnormal airway anatomy, making their airway management challenging. "