Prenatal and Neonatal

Prenatal Screening

Down’s syndrome including early detection of complications in pregnancy

Complications of pregnancy are health problems that occur during pregnancy. They can involve the mother’s health, the baby’s health, or both. Some women have health problems before they become pregnant that could lead to complications. Other problems arise during the pregnancy.

Pregnancy disorders and complications are poorly predicted by traditional risk factors and maternal history alone. By combining this information with biomarker testing using risk calculation software, complications in pregnancy can be detected early and it also reduces unnecessary invasive tests.

Biomarkers, or biological markers, are a non-invasive pre-natal screening method. Biomarkers measured in the first trimester of pregnancy can predict the incidence and severity of disease allowing for improved and targeted prophylactic therapies to prevent adverse maternal and fetal outcomes.

Traditionally biomarkers have been used as pre-natal screening in the first and second trimester of pregnancy to identify Trisomy 21 or Down’s syndrome. However, non-invasive first trimester screening provides the possibility to predict so much more than only fetal aneuploidies. In addition to the risk assessment for aneuploidies, biomarkers can be used to screen for other conditions, such as pre-eclampsia, fetal growth restriction and preterm birth.

Mother complications	Baby complications
Pre-eclampsia Gestational diabetes Miscarriage Stillbirth Preterm delivery	Open spina bifida Major cardiac defects Small for gestational age Macrosomia Trisomy 21, 18 and 13

Humor Diagnostica offers biomarkers for the first and second trimester non-invasive screening of mother and baby on the BRAHMS Kryptor analyzer. For more information on these biomarkers, free βhCG, PAPP-A, hCG+β, AFP and uE3, please download the product information brochure below.

Download the product information brochure here:

Pre-eclampsia

Pre-eclampsia (PE) is a systemic syndrome presenting mainly in the second half of pregnancy. It is defined by new onset hypertension (systolic and diastolic blood pressure of ≥140 and 90 mm Hg, respectively, on two occasions at least 6 hours apart) and proteinuria (protein excretion of ≥ 300 mg in 24 h urine collection) that develops after 20 weeks of gestation.

With an incidence of 2-8% pre-eclampsia is a frequent pregnancy disorder, affecting more than 4, 1 million women per year worldwide [Ghulmiyyah et al]. Pre-eclampsia and eclampsia are responsible for 15% of premature deliveries, 18% of maternal deaths and 50,000 maternal deaths annually worldwide [World health report].

During pregnancy PlGF levels increase progressively in the first and second trimester and decrease towards term. The in vitro determination of maternal serum PlGF, in combination with other biological and clinical data, allows the early risk assessment for pre-eclampsia. PlGF is an important tool in the prediction of hypertensive disorders of pregnancy before clinical onset. A screening test in weeks 10 to 13 of pregnancy can reliably predict the risk of a woman developing pre-eclampsia during her pregnancy. If a woman is at high risk for pre-eclampsia the treating physician can counsel accordingly and advise for preventive measures in order to avoid severe complications for mother and child.

In contrast, sFlt-1 levels are stable until weeks 20 to 24, before steadily increasing until delivery. In women with clinical pre-eclampsia, sFlt-1 levels are significantly increased while concentrations of circulating free PlGF are significantly decreased. The measurement of sFlt-1 levels concurrently with PlGF levels in maternal serum starting during mid-pregnancy can improve the current diagnostic review of patients with suspected pre-eclampsia. The sFlt-1/PlGF ratio is a tool for the diagnosis of pre-eclampsia at triage and a predictor of subsequent maternal and fetal adverse outcome.

For more information, download the product information brochure here:

Neonatal Screening

Newborn screening tests determine developmental, genetic and metabolic disorders in the newborn baby, e.g. phenylketonuria (PKU), cystic fibrosis and congenital hypothyroidism. This allows for action to be taken before symptoms develop. Most of these illnesses are very rare and can be treated if diagnosed early.

With a simple blood test, doctors often can identify newborns at risk. Although these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.

In general, metabolic and other inherited disorders can hinder an infant’s normal physical and mental development in a variety of ways. E.g. metabolic disorders (often described as “inborn errors of metabolism”) interfere with the body’s use of nutrients to maintain healthy tissues and produce energy. Unknowingly parents can be gene carriers for a certain disorder.

Humor Diagnostica offers the following assays for metabolic disorders: