Complete Health Screening Guide: Pregnancy, Newborn & Child Screening Explained

pediagenosis    March 30, 2026    Health , Pediatrics , science    Comment   

Screening

Screening atms to identify unrecognized disease in apparently well people. The cost must be considered and balanced against that of treatment if the problem presents later. Conditions suitable for screening should:

•   Be identifiable at a latent or early symptomatic stage

•   Be treatable

•   Have a better prognosis if treated early.

Screening programs vary around the world. Screening of pregnant women, newborns and children in the UK is described at http://www.screening.nhs.uk/england.

Screening in pregnancy

Pregnancy is an ideal time to screen for inherited disorders and for vertically transmitted infections as the mothers are engaged with health services (often for the first time since childhood) and are usually very motivated. All pregnant women in the UK are screened at booking for syphilis and hepatitis B infection and rubella susceptibility. All are offered HIV screening, with a >98% uptake. Mothers are offered testing for sickle cell disease and thalassaemia (and other haemoglobin variants depending on ethnicity). If positive, then partners are tested and if they are also positive (or untraceable), then antenatal diagnosis of the fetus is offered. Sickle cell disease is also screened for after birth using the newborn bloodspot (see below). All pregnant women have an anomaly ultrasound scan at 18 –20 weeks that is designed to detect serious malformations of the major organs. This is sometimes followed by more detailed tests such as MRI, fetal echocardiography or amniocentesis. If there is a strong family history of inherited serious disorders in the parents, then pre-conception genetic screening of embryos can be offered.

Screening for Down’s syndrome

Down’s syndrome affects 1 in 1000 live births (1 fetuses). There is an association with increased maternal age (1 in 880 at 30 years rising to 1 in 100 at age 40 years). 95% are due to non-disjunction during meiosis and 3% to an unbalanced translocation; 1% are mosaics, with only a proportion of cells within the body having trisomy 21. About 55% of affected fetuses are detected antenatally through screening. In those diagnosed before birth, only 5% of couples choose to continue with the pregnancy. Antenatal screening for Down’s syndrome is offered to all mothers regardless of age. In the first trimester, a ‘combined test’ of nuchal fold thickness (subcutaneous tissue at back of the neck) and measurement of serum beta-hCG and pregnancy-associated plasma protein A (PAPP-A) is used. In the second trimester, the ‘quadruple test’ is offered (measurement of serum beta-hCG, alpha-fetoprotein, inhibin A and unconjugated estriol). These tests give a calculated risk, which if high may prompt diagnostic testing via chorionic villus sampling or amniocentesis. Recent studies show that cell-free fetal DNA fragments circulating in the maternal plasma can be used to detect trisomy 13, 18 and 21 with a very low (<1%) false-positive rate.

Newborn blood spot screening

Midwives collect bloodspots from the heel newborn baby on day 5 – 8 of life on to an absorbent card. Formally called the ‘Guthrie card’, but now the bloodspots are analysed for a variety of disorders and stored for further diagnostic tests. Disorders screened for the UK include congenital hypothyroidism, phenylketonuria (PKU), medium-chain acylcarnitine deficiency (MCAD), cystic fibrosis (CF) and sickle cell disease. From 2015, the bloodspot screening will also test for maple syrup urine disease (MSUD), isovaleric academia (IVA), glutaric aciduria type I (GA1) and homocystinuria (HCU). In very premature babies, the test should be repeated at 28 days of life, and in sick neonates, it is important to obtain at least one additional blood spot prior to any blood transfusions.

 Newborn hearing screening

All newborn babies in the UK now receive a hearing test, prior to discharge or within the first few days of life. This test uses a small probe placed in the ear to detect otoacoustic emissions—vibrations from the cochlear in the inner ear which show that the pathway between the external auditory meatus and the cochlear is intact. In equivocal cases, brainstem evoked responses to sounds are also measured. This screening program has dramatically reduced the age at which congenitally deaf children receive hearing aids, allowing them to hear at a critical phase of their language development. Cochlear implants are implanted in children whose hearing is not amenable to external aids.

Newborn infant physical examination (NIPE)

This examination, conducted within the first 72 hours of life and repeated at 8 weeks, aims to screen for congenital heart disease (CHD), developmental dysplasia of the hip, congenital cataract and (in boys) undescended testes. Oxygen saturation screening for CHD is also undertaken in some areas. NIPE is described in Chapter 13.

 Screening in later childhood

The child health screening program continues in the community in the pre-school and school years. In the UK, this includes tests of vision and monitoring of height (for growth disorders) at school entry and BMI (for obesity) at primary school entry and exit.