Triple Test Screening for Down Syndrome: An Egyptian-Tailored Study

Abou-Youssef, Hazem S.; Kamal, Manal; Mehaney, Dina A.

doi:10.1371/journal.pone.0110370

Cited by 7 publications

(3 citation statements)

References 25 publications

(27 reference statements)

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“…The main purpose of this study was to incorporate different MoM values of serological markers into the existing Down syndrome screening test, so as to increase the efficiency of Down syndrome screening. Our study with a relatively large sample size utilizing data from the last decade in our hospital showed a similar positive rate, detection rate and false positive rate to reports from other countries and regions (25,26). Protocols (protocol-3 and protocol-6) which combined serum β-hCG MoM value > 95% (2.213) or > 97.5% (2.603) with the traditional screening risk showed high detection rate, low positive rate and false positive rate, and could increase the efficiency.…”

Section: Discussionsupporting

confidence: 84%

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Zhou

Zhang

et al. 2018

BST

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To assess the predictive value of integrating multiple of the median (MOM) with the risk cutoff value for serological screening of Down syndrome. In this retrospective study, women with singleton pregnancies who underwent triple serological screening for Down syndrome were followed, and their screening results and pregnancy outcomes were recorded. The range of MoM value of each indicator was calculated, different protocols integrating various MoM values with the risk cutoff value were compared. A total of 120,269 women with singleton pregnancy were screened and included in the analysis, of those 52 fetuses were confirmed as trisomy-21 by amniocentesis chromosomal karyotyping. Using a risk cutoff value of 1:380, 8,809 samples tested positive and the screen positive rate was 7.32% (8,809/120,269). The normal reference ranges (5-95%) of the MoM value of AFP, β-hCG, and uE3 were 0.60-1.72, 0.43-2.21 and 0.60-1.58, respectively. The detection rate of each screening protocol integrating different MoM percentile values was between 75% and 79%, the positive rate was between 7% and 18%, and the false positive rate was between 7% and 18%. Protocol-6 which combined the screening risk cutoff value and β-hCG MoM ≥ 97.5% percentile is an optimal protocol with a relatively high detection rate (78.8%) and low false positive rate (8.2%). Integrating MoM values of serological indicators can appropriately increase detection rate when interpreting the results of Down syndrome screening.

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Section: Discussionsupporting

confidence: 84%

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Zhou

Zhang

et al. 2018

BST

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“…The incidence of Down syndrome in Egypt is 1∶555 and 1∶770 life births (19). We recommend establishment of a registry of cases with trisomy 21 all over Egypt.…”

Section: Discussionmentioning

confidence: 97%

Non- Disjunction of Chromosome 21 in the Young Mother at Conception

ElGindy

Kotb²,

Mohamed³

et al. 2022

Pediatric Sciences Journal

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Background: Maternal age influences the type of chromosomal anomaly in Down syndrome. The older age is associated with non-disjunction while the younger age is associated with translocation of chromosome 21. Aim of the Work:To study the cytogenetics of children with Down syndrome born to the young mother who presented to Pediatrics Genetics Unit at Cairo University Children Hospital during one year (2019), and compare with those born to an older mother. Materials and Methods: This descriptive retrospective study analyzed records of 210 children with Down syndrome who presented to Pediatrics Genetics Unit at Cairo University Children Hospital during 2019. Results: Among the total 210 studied children with Down syndrome, 21(10%) were born to young mothers aged 21 years or less at conception. Seven (33.34%) were males and 14 (66.6%) were females. Twenty (95.2%) were first born to a young mother, only 1 was a second born. Karyotyping proved that 6 (28.6%) had Robertsonian translocation of trisomy 21, and 15 (75.4%) had non-disjunction. Only 1 (4.76%) of children born to younger mothers had associated cardiac anomalies, while among those born to the older mother 40 (21%) had associated anomalies, of them were cardiac 36 (19.04%), hydrocephalus in one (0.5%), and ambiguous genitalia in 3 (1.58%) (p=0.072). First born trisomy 21 were 109 (51.9%) among the whole studied cohort, with a mean maternal age +/-SD of 30.2 years +/-7.35 years, their karyotyping was non-disjunction, Robertsonian translocation and mosaic in 100, 5 and 3 respectively. Cardiac anomalies were encountered among 18 (16.5%). Conclusion:Children born with trisomy 21 to mothers younger than 21 at conception are mostly due to non-disjunction. First born children with trisomy 21 comprised half the studied cohort of trisomy 21. Further studies to define preventable causes of non-disjunction in the young mother, are needed to reduce the incidence of Down syndrome.

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“…3 Data from Egypt vary from 1 in 555 to 1 in 770. 4 The risk of DS significantly increases with advancing maternal age, but also paternal age may play a role. 5 Other rare identified risk factors are heredity, affecting approximately 1% of all cases of DS.…”

Section: Introductionmentioning

confidence: 99%

Clinical Profiles, Congenital Heart Disease, and Other Comorbidities Among Egyptian Children with Down Syndrome: A Tertiary Center Study

Amin

Abdel-Meguid

El-Refaie

et al. 2021

Journal of Child Science

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Introduction Down syndrome (DS) is the most common chromosomal disorder. It is accompanied by several comorbidities, which could lead to severe morbidity and mortality. Congenital heart disease (CHD) is one of the most commonly described condition. Objective This study aimed to determine clinical profiles, dysmorphic features, CHD, and DS associated comorbidities in a tertiary center (Cairo, Egypt). Patients and Methods This descriptive study included 290 patients diagnosed with DS, who presented to the Clinical Genetics clinic, Cairo University Children Hospitals, from February 2018 to December 2019. The patients' ages ranged from 2 to 4 years old. All patients were evaluated by full history, clinical examination, anthropometric measurements, and assessment of developmental milestones. Patients' diagnostic investigations including karyotype, thyroid function, and echocardiography were checked. Results The study population consisted of 290 children with DS of which 196 (67.6%) were male, 115 (40%) had CHD, the most prevalent atrial septal defect (ASD), patent ductus arteriosus (PDA), and ventricular septal defect (VSD) accounting for 10.7, 7.1, and 4.2%, respectively. Common dysmorphic features were upward slanting palpebral fissures (98.6%), hypertelorism (97.9%), and sandal gap (60.7%). Thyroid dysfunction was the second prevalent comorbidity, found in 35 patients (12.1%). Global developmental delay was reported affecting language (99%), motor (94.8%), and social (92.8%) domains. Conclusion The prevalence of CHD among children with DS was 40% with ASD, PDA, and VSD being the commonest. Thyroid dysfunction was the second most common comorbidity. The most prevalent dysmorphic features were upward slanting palpebral fissures, hypertelorism, and sandal gap. Developmental delay was very common, language being the most affected domain.

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Triple Test Screening for Down Syndrome: An Egyptian-Tailored Study

Cited by 7 publications

References 25 publications

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Non- Disjunction of Chromosome 21 in the Young Mother at Conception

Clinical Profiles, Congenital Heart Disease, and Other Comorbidities Among Egyptian Children with Down Syndrome: A Tertiary Center Study

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