Universal Screening Program in Pregnant Women and Newborns at-Risk for Sickle Cell Disease: First Report from Northern Italy

Screening for the early diagnosis of sickle cell disease has been advocated as essential for reducing infant mortality and morbidity. The provision of comprehensive and preventive care optimizes the chance for a longer and more healthy life by minimizing the detrimental complications that often occur in early life. Accordingly, the goals of early identification and intervention include preventing complications through the anticipation of medical problems, educating the family so that they become knowledgeable about sickle cell disease and how it may affect their child, and assisting the family in identifying specialized medical centers where appropriate care and follow-up will occur. MATERIALS AND METHODS The target population in New Haven, CT, was defined as black and Puerto Rican gravida women giving birth at Yale Medical Center. Screening these at-risk pregnant women and the fathers permitted prior identification of the newborn at risk. This was perceived to be a method of decreasing the number of cord blood specimens to be screened as well as increasing the yield. Screening guidelines mandated education, informed consent, and appropriate follow-up for parents whose infants were identified to be heterozygous or homozygous for a sickle variant. The protocols for sample collection and sample testing were established. Hemoglobin electrophoresis was performed by the following two techniques: (1) cellulose acetate at pH 8.4 and (2) citrate agar gel at pH 6.2. The latter technique facilitates the identification of Hb S and Hb C in the presence of large amounts of Hb F3. The screening program was introduced to the medical community and support staff.

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O945 Maternal morbidity in pregnant women with sickle cell disease

International Journal of Gynecology & Obstetrics ◽

10.1016/s0020-7292(09)61318-7 ◽

2009 ◽

Vol 107 ◽

pp. S362-S362

Author(s):

K. Tosta ◽

R. Nomura ◽

A. Igai ◽

G. Fonseca ◽

S. Gualandro ◽

...

Keyword(s):

Sickle Cell Disease ◽

Pregnant Women ◽

Sickle Cell ◽

Maternal Morbidity ◽

Cell Disease

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Intrauterine Diagnosis for Sickle-Cell Disease

PEDIATRICS ◽

10.1542/peds.52.3.463 ◽

1973 ◽

Vol 52 (3) ◽

pp. 463-463

Author(s):

John M. Carr

Keyword(s):

At Risk ◽

Genetic Counseling ◽

Family Planning ◽

Sickle Cell Disease ◽

Sickle Cell ◽

Healthy Children ◽

Cell Disease ◽

Intrauterine Diagnosis

In Pediatrics, Volume 51, No. 4, April 1973, there is a commentary by Fost and Kaback entitled, "Why Do Sickle Cell Screening in Children?"1 On page 742 there appears this statement, "Genetic counseling might assist parents in family planning and the possibility of intrauterine diagnosis of sickle-cell disease would offer a more meaningful opportunity for parents at risk to bear healthy children." This statement seems vague and confusing in an otherwise reasonably straightforward article. If the authors are suggesting that such women either be aborted or counseled concerning the possibilities of this, why not come out and say so?

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Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

International Journal of Neonatal Screening ◽

10.3390/ijns5010002 ◽

2018 ◽

Vol 5 (1) ◽

pp. 2

Author(s):

Maddalena Martella ◽

Giampietro Viola ◽

Silvia Azzena ◽

Sara Schiavon ◽

Andrea Biondi ◽

...

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Molecular Analysis ◽

Sickle Cell ◽

Screening Program ◽

Globin Gene ◽

False Negative ◽

Confirmatory Test ◽

Cell Disease ◽

Technical Issues

A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of the β-globin gene (HBB) was the confirmatory test performed on the HPLC-positive or indeterminate samples. 5466 samples of newborns were evaluated. Of these, 5439/5466 were submitted to HPLC analysis and the molecular analysis always confirmed in all the alteration detected in HPLC (62/5439 newborns); 4/5439 (0.07%) were SCD affected, 37/5439 (0.68%) were HbAS carriers and 21/5439 (0.40%) showed other hemoglobinopathies. Stored dried blood spots were adequate for HPLC and β-globin gene molecular analysis. Samples were suitable for analysis until sixteen months old. A cut-off of A1 percentage, in order to avoid false negative or unnecessary confirmation tests, was identified. Our experience showed that several technical issues need to be addressed and resolved while developing a multicenter NBS program for SCD in a country where there is no national neonatal screening (NBS) program for SCD and NBS programs occur on a regional basis.

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Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria

The Scientific World JOURNAL ◽

10.1155/2020/4801087 ◽

2020 ◽

Vol 2020 ◽

pp. 1-7

Author(s):

Oladele Simeon Olatunya ◽

Adefunke Olarinre Babatola ◽

Ezra Olatunde Ogundare ◽

Babatunde Ajayi Olofinbiyi ◽

Olubunmi Adeola Lawal ◽

...

Keyword(s):

Genetic Counseling ◽

Sickle Cell Disease ◽

Early Diagnosis ◽

Newborn Screening ◽

Sickle Cell ◽

Screening Program ◽

Universal Coverage ◽

Cell Disease ◽

Cross Sectional ◽

Southwestern State

Background. Early sickle cell disease (SCD) diagnosis has shown promise in combating SCD in many countries. The aim of this study was to assess the practice and perception of early SCD diagnosis among a group of parents and physicians in Nigeria. Patients and Methods. This was a cross-sectional descriptive study conducted to assess the opinions and practice of early diagnosis of SCD among 135 physicians caring for SCD patients and 164 mothers of children with SCD in a southwestern state of Nigeria. Results. Most physicians 132 (97.8%) were aware of prenatal SCD diagnosis, but only 51 (37.8%) would recommend it. Most physicians 129 (95.6%) routinely recommend premarital SCD genetic counseling and testing, and 89 (65.1%) were aware of the national government newborn screening program but lesser proportion 75 (55.6%) were willing to recommend it. Amongst the mothers, 154 (94%) and 158 (96%) had encountered genetic counseling for SCD and were willing to offer newborn screening to their children, respectively. On the contrary, fewer mothers 42 (25%) were aware of prenatal SCD diagnosis, 28 (17%) were willing to partake in it, and 44 (26%) were undecided. There were discrepancies in the willingness by physicians to practice early SCD diagnosis and its uptake by mothers (p<0.0001). The commonest reason given by both the physicians and mothers for not practicing SCD prenatal diagnosis was the high cost of the procedure. Conclusion. The perceptions and practice of early SCD diagnosis was suboptimal in the study locality. Scaling up awareness and universal coverage are required.

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P357 Perinatal and maternal outcomes in pregnant women with sickle cell disease and sickle cell trait

International Journal of Gynecology & Obstetrics ◽

10.1016/s0020-7292(09)61848-8 ◽

2009 ◽

Vol 107 ◽

pp. S516-S516

Author(s):

K. Tosta ◽

R. Nomura ◽

A. Igai ◽

G. Fonseca ◽

S. Gualandro ◽

...

Keyword(s):

Sickle Cell Disease ◽

Pregnant Women ◽

Sickle Cell ◽

Sickle Cell Trait ◽

Maternal Outcomes ◽

Cell Disease

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An automated mass screening program for sickle cell disease

JAMA ◽

10.1001/jama.218.11.1680 ◽

1971 ◽

Vol 218 (11) ◽

pp. 1680-1682 ◽

Cited By ~ 2

Author(s):

R. M. Nalbandian

Keyword(s):

Sickle Cell Disease ◽

Mass Screening ◽

Sickle Cell ◽

Screening Program ◽

Cell Disease

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The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD)

International Journal of Neonatal Screening ◽

10.3390/ijns5010011 ◽

2019 ◽

Vol 5 (1) ◽

pp. 11 ◽

Cited By ~ 1

Author(s):

Ana Silva-Pinto ◽

Maria Alencar de Queiroz ◽

Paula Antoniazzo Zamaro ◽

Miranete Arruda ◽

Helena Pimentel dos Santos

Keyword(s):

Sickle Cell Disease ◽

Sickle Cell ◽

Health Care Professionals ◽

Neonatal Screening ◽

Screening Program ◽

Cell Disease ◽

Ministry Of Health ◽

Basic Care ◽

Main Challenge ◽

Neonatal Screening Program

Since 2001, the Brazilian Ministry of Health has been coordinating a National Neonatal Screening Program (NNSP) that now covers all the 26 states and the Federal District of the Brazilian Republic and targets six diseases including sickle cell disease (SCD) and other hemoglobinopathies. In 2005, the program coverage reached 80% of the total live births. Since then, it has oscillated between 80% and 84% globally with disparities from one state to another (>95% in São Paulo State). The Ministry of Health has also published several Guidelines for clinical follow-up and treatment for the diseases comprised by the neonatal screening program. The main challenge was, and still is, to organize the public health network (SUS), from diagnosis and basic care to reference centers in order to provide comprehensive care for patients diagnosed by neonatal screening, especially for SCD patients. Considerable gains have already been achieved, including the implementation of a network within SUS and the addition of scientific and technological progress to treatment protocols. The goals for the care of SCD patients are the intensification of information provided to health care professionals and patients, measures to prevent complications, and care and health promotion, considering these patients in a global and integrated way, to reduce mortality and enhance their quality of life.

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Iron stores in pregnant women with sickle cell disease: a protocol for a systematic review and meta-analysis

BMJ Open ◽

10.1136/bmjopen-2018-026497 ◽

2019 ◽

Vol 9 (9) ◽

pp. e026497 ◽

Cited By ~ 2

Author(s):

Desmond Aroke ◽

Benjamin Momo Kadia ◽

Tsi Njim

Keyword(s):

Systematic Review ◽

Sickle Cell Disease ◽

Iron Deficiency ◽

Pregnant Women ◽

Sickle Cell ◽

Iron Deficiency Anaemia ◽

Meta Analysis ◽

Cochrane Library ◽

Cell Disease ◽

Deficiency Anaemia

IntroductionSickle cell disease (SCD) is the most common inherited disease worldwide. The greatest disease burden is seen in sub-Saharan Africa. Early diagnosis and improved care of people living with SCD have led to an increase in the number of women with SCD reaching the reproductive age. Iron deficiency anaemia remains the most common cause of anaemia in pregnancy, affecting 51%–63% of pregnancies in Africa. However, the unavailability of guidelines on supplementation of iron in this pregnant subpopulation often leaves clinicians in a fix. We propose to conduct the first systematic review and possibly a meta-analysis on the prevalence, associated factors and maternal/fetal outcomes of iron deficiency anaemia among pregnant women with SCD.Methods and analysisWe will search the following electronic databases for studies on the iron status of pregnant women with SCD: PubMed, MEDLINE, EMBASE, Google Scholar, African Journals Online, African Index Medicus, Popline and the Cochrane Library. After the selection of eligible studies from the search output, review of full text, data extraction and data synthesis will be performed. Studies obtained from the review shall be evaluated for quality, risk of bias and heterogeneity. Appropriate statistical methods shall be used to pool prevalence estimates for matching studies globally and in subpopulations. This protocol has been reported as per the 2015 guidelines of the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols.Ethics and disseminationThere is no requirement for ethical approval as the proposed study will use published data. The findings of this study will be published in a peer-reviewed journal and will be presented at conferences.Trial registration numberCRD42018109803.

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