Prenatal care, also known as antenatal care, is a type of preventive healthcare. It is provided in the form of medical checkups, consisting of recommendations on managing a healthy lifestyle and the provision of medical information such as maternal physiological changes in pregnancy, biological changes, and prenatal nutrition including prenatal vitamins, which prevents potential health problems throughout the course of the pregnancy and promotes the mother and child's health alike.The availability of routine prenatal care, including prenatal screening and diagnosis, has played a part in reducing the frequency of maternal death, miscarriages, birth defects, low birth weight, neonatal infections and other preventable health problems.
Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, is a congenital heart defect characterized by four specific cardiac defects. Classically, the four defects are:
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease; this field is considered necessary for the implementation of genomic medicine. The process integrates:
dextro-Transposition of the great arteries, is a potentially life-threatening birth defect in the large arteries of the heart. The primary arteries are transposed.
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Blue baby syndrome can refer to conditions that cause cyanosis, or blueness of the skin, in babies as a result of low oxygen levels in the blood. This term has traditionally been applied to cyanosis as a result of:
- Cyanotic heart disease, which is a category of congenital heart defect that results in low levels of oxygen in the blood. This can be caused by either reduced blood flow to the lungs or mixing of oxygenated and deoxygenated blood.
- Methemoglobinemia, which is a disease defined by high levels of methemoglobin in the blood. Increased levels of methemoglobin prevent oxygen from being released into the tissues and result in hypoxemia.
Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on filter paper which could be easily transported, recognizing the need for a simple system if the screening was going to be done on a large scale. Newborn screening around the world is still done using similar filter paper. NBS was first introduced as a public health program in the United States in the early 1960s, and has expanded to countries around the world.
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure.
The British Heart Foundation (BHF) is a cardiovascular research charity in the United Kingdom. It funds medical research related to heart and circulatory diseases and their risk factors, and runs influencing work aimed at shaping public policy and raising awareness.
Heart Research UK is a national charity organisation in the United Kingdom. They fund medical research in to the prevention, treatment and cure of heart disease, as well as community projects aimed at improving the public’s heart health. Since its foundation, Heart Research UK has funded over £25 million of research into heart disease and related conditions.
CHARGE syndrome is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births; as of 2009, it was the leading cause of congenital deafblindness in the US.
Fetal surgery also known as fetal reconstructive surgery,antenatal surgery, prenatal surgery, is a growing branch of maternal-fetal medicine that covers any of a broad range of surgical techniques that are used to treat birth defects in fetuses who are still in the pregnant uterus. There are three main types: open fetal surgery, which involves completely opening the uterus to operate on the fetus; minimally invasive fetoscopic surgery, which uses small incisions and is guided by fetoscopy and sonography; and percutaneous fetal therapy, which involves placing a catheter under continuous ultrasound guidance.
The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing. Many prenatal tests are now considered routine, such as testing for Down syndrome. Women who are discovered to be carrying fetuses with disabilities are often faced with the decision of whether to abort or to prepare to parent a child with disabilities.
Maternal–fetal medicine (MFM), also known as perinatology, is a branch of medicine that focuses on managing health concerns of the mother and fetus prior to, during, and shortly after pregnancy.
Fetal echocardiography, or Fetal echocardiogram, is the name of the test used to diagnose cardiac conditions in the fetal stage. Cardiac defects are amongst the most common birth defects. Their diagnosis is important in the fetal stage as it might help provide an opportunity to plan and manage the baby as and when the baby is born. Not all pregnancies need to undergo fetal echo.
Computer-aided auscultation (CAA), or computerized assisted auscultation, is a digital form of auscultation. It includes the recording, visualization, storage, analysis and sharing of digital recordings of heart or lung sounds. The recordings are obtained using an electronic stethoscope or similarly suitable recording device. Computer-aided auscultation is designed to assist health care professionals who perform auscultation as part of their diagnostic process. Commercial CAA products are usually classified as clinical decision support systems that support medical professionals in making a diagnosis. As such they are medical devices and require certification or approval from a competent authority.
Universal neonatal hearing screening (UNHS), also known as early hearing detection and intervention (EHDI) programs in several countries, refer to those services aimed at the early identification, intervention, and follow-up of infants and young children who are deaf or hard-of-hearing. It is a strategy for early detection of permanent congenital hearing loss. It describes the use of objective testing methods to screen the hearing of well newborns in a particular target region.
The Newborn Screening Saves Lives Reauthorization Act of 2014 is a bill that would amend the Public Health Service Act to reauthorize grant programs and other initiatives to promote expanded screening of newborns and children for heritable disorders.
The Newborn Foundation is a Minnesota-based international 501(c)3 non-profit organization that advocates for newborn screening and works to develop and implement programs, technologies and policies that reduce infant mortality. The organization has played a part in the policy development, adoption and implementation of technologies for early detection, intervention and care of the youngest patients, including the addition of universal newborn pulse oximetry (CCHD) screening to the federal Routine Uniform Screening Panel (RUSP).
Annamarie Saarinen is a health advocate, economist and co-founder of the Newborn Foundation, a 501(c)(3) organization that aims to accelerate the pace of early detection and intervention for treatable newborn health conditions..
