Explanation of the process, parties involved, link to the healthcare system and benefits and disadvantages of heel prick screening.

Process

Selection

  • After its birth has been officially registered by its parents, RIVM’s regional offices (DVP) receive the child’s details from the local authority's primary administration. The RIVM’s regional offices can also receive the birth registration and child information via administration of midwives and the Dutch Council for Refugees.

Invitation

  • The RIVM regional offices inform the contracted YHC (Youth Health Care) organisation, which then phones the parents to make an appointment.
  • In the third trimester of pregnancy, the obstetric care providers (midwives, gynaecologists and general practitioners who attend deliveries) provide information about the newborn blood spot screening, based on a national information consultation checklist for midwives. At this point, the information leaflet is handed to the expectant parent (or parents). The choice of whether or not to be informed about the child’s carrier status for sickle cell anaemia is specifically discussed at this stage, as is the opportunity to object to the use of blood spot material for scientific research.

The screening test

  • The newborn blood spot screening is carried out between 72 and 168 hours after birth, most often simultaneously with the newborn hearing screening. The newborn blood spot screening is performed at the place where the child is located at that time. Most children are pricked at home.
  • During the newborn blood spot screening, a special device (lancet) is used to take a few drops of blood from the baby’s heel, which are then placed on a heel prick blood test card.
  • The heel prick blood test card is then sent to one of the five screening laboratories. The laboratory carries out the tests and reports the results to RIVM’s regional office.
  • About 100 times a year, as part of the screening method for cystic fibrosis, the submitted blood is sent for extensive DNA analysis of the CFTR gene to VU University Medical Center, Department of Clinical Genetics.
  • When the results of the newborn blood spot screening are favourable, the parents are not notified.

Referral

  • In the case of an anomalous result, the RIVM regional office’s medical advisor contacts the general practitioner, who then arranges a referral to an academic centre (except in the case of CH, for which the children are also referred to general hospitals).
  • A definite diagnosis is made at the medical centre, and treatment is started.

Who is involved in the population screening programme?

  • At national level, the screening programme is organised by the RIVM’s Centre for Population Screening (CvB), on behalf of the Dutch Ministry of Health, Welfare and Sport. The document ‘Policy framework of the prenatal and neonatal screening’ provides insight into the legal and policy based frameworks of the screening programs. The document describes the cooperation of all preparatory, executive and decision-making parties involved in the pre- and neonatal screening. 
  • RIVM DVP’s regional offices organise the regional implementation.
  • RIVM-DVP buys and distributes the materials needed and manages the information system Praeventis.
  • The obstetric care provider (midwife, gynaecologist or general practitioner who attends deliveries) informs the expectant parent (or parents) about the newborn blood spot screening and hands over a copy of the national leaflet.
  • An official of the civil affairs department hands over another copy of the leaflet when the birth is officially registered.
  • The drops of blood are collected by screeners from YHC organisations. In regions Gelderland and Zuid-Holland, the newborn blood spot screening is also carried out by midwives working under the responsibility of the YHC organisation. In Twente, the newborn blood spot screening is also carried out by maternity carers under responsibility of the YHC organisation.
  • If, during the period when drops of blood have to be collected, a child is in the hospital, then the newborn blood spot screening will be carried out by a member of the hospital’s staff.
  • The blood test is carried out by five contracted screening laboratories. The RIVM-GZB serves as a reference laboratory.
  • About 100 times a year, when screening for cystic fibrosis, supplementary DNA diagnosis of the CFTR gene takes place at VU University Medical Center, Department of Clinical Genetics.
  • The annual monitoring of the screening is carried out by TNO Child Health, at the instigation of RIVM CvB.
  • The Programme Committee for Newborn Blood Spot Screening, which was established by the RIVM-CvB, advises the RIVM regarding the programme’s national co-ordination. The Programme Committee is composed of experts from relevant professional groups and organisations who are recognised authorities in their own field or network, and who have professional contacts in the field.
  • The board of the Dutch Paediatrics Society (NVK) has established the following advisory committees for the newborn blood spot screening: the AGS-CH Advisory Committee (ANS-AGS-CH), the Metabolic Disorders Advisory Committee (ANS-MZ), the Haemoglobinopathies Advisory Committee (ANS-HbP), the Cystic Fibrosis Advisory Committee (ANS-CF), the Severe Combined Immunodeficiency Advisory Committee (ANS-SCID) and the Spinal Muscular Atrophy Advisory Committee (ANS-SMA). These committees also advise the Programme Committee and are responsible for setting up the guidelines for diagnosis and treatment.

Link to care

In principle, all children who are referred from screening are treated at the academic centres (or, in the case of CH, at the general hospitals as well).

In case of an anomalous result regarding AGS, the child will be seen by the pediatrician-endocrinologist as soon as possible, but no later than 12:00 AM upcoming day*.
In case of an anomalous result regarding CH, the child will be seen by the pediatrician-endocrinologist at the same day but no later than 12:00 AM of the upcoming day. Collegial consultation can take place when necessary*.

*For AGS and CH applies: the result of the first blood spot screening can be negative (no action), anomalous (referral) or non-conclusive. When the result is non-conclusive, a second heel prick will take place. The result of the second blood spot screening can be negative (no action) or anomalous (referral).

In case of an anomalous result regarding CF, the child will be seen by a pediatrician-pulmonogist of the CF-Centre within 1 week, dependent on the planned date of the sweat test. In case of an anomalous result regarding a metabolic disease, the child will be seen by the pediatrician-metabolic diseases as soon as possible.
In case of an anomalous results regarding sickle cell disease, alpha-thalassemia (HbH-disease) and beta-thalassemia major, the child will be seen before the age of 4 weeks by the pediatrician-hematologist.
If the result indicates carrier status for sickle cell anaemia, the parents of the child are invited by the general practitioner for an informative consultation within 4 weeks. During this consultation, the referral to the department of Clinical Genetics is discussed.

 

Benefits and disadvantages of participation in the programme

Benefits

The newborn blood spot screening traces rare but serious disorders. These disorders can not be cured but they can be treated, provided that they are traced in time. This will prevent or limit any damage to the child’s health, resulting in substantial health gains. An added benefit is that this avoids a lengthy, burdensome diagnostic process.

Disadvantages

Soon after its birth, parents are confronted with the fact that their child may have a serious, rare disorder. Moreover, in the case of a suspected disorder, the child will usually be quickly seen by a paediatrician. This causes anxiety for the family. The result in question may be a false-positive, in which case there may – ultimately – be nothing wrong with the child. Also false-negative cases can occur which means that sick children are missed. Details of these missed patients are registered by the RIVM regional office’s medical advisor in the national database NEORAH. Paediatricians report details of missed patients by the screening in a national registry, via the Dutch Paediatric Surveillance Centre at The Dutch Paediatrics Society at the NVK. These reports are included in the annual evaluation of the programme by TNO Child Health, at the instigation of RIVM-CvB.

Secondary findings

Carnitin Transporter (OCTN2) deficiency is a secondary finding in the neonatal blood spot screening. In addition, screening for sickle cell anaemia can also detect carriers. From the child’s point of view, this can be seen as a disadvantage. From the parents’ point of view, and that of other relatives, this can be seen as a benefit, with a view to possible future pregnancies. Yet it is also a disadvantage, as this information forces parents to face a choice that they might not have wanted to face.