GENETIC CARRIER SCREENING
Everyone is carrier to at least one genetic condition that are typically healthy. A pre-birth carrier screening is a test that determines your risk of passing on an inherited genetic condition to your child. When performed prior to conceiving, genetic carrier screening provides actionable information as well as the opportunity to pursue alternative reproductive options. Carrier screening during pregnancy (prenatal carrier screening) can have life-changing effects: It can assist couples in deciding on diagnostic testing and, if necessary, in preparing emotionally, medically, and financially for a baby with a genetic condition.
Source: Genetic Carrier Screening | Natera
NON INVASIVE PRENATAL SCREENING
Panorama™ is a prenatal genetic screening test for the pregnant mother that looks for common chromosomal disorders that can influence the health of the kid. Panorama offers the most accurate non-invasive prenatal testing on the market according to its proprietary SNP*-based technology.
Panorama can be done as early as nine weeks of pregnancy. The majority of results will be sent to your doctor within 5-7 days.
Source: Panorama – Non-Invasive Prenatal Testing (NIPT) | Natera
GROUP B STREP
- What is group B Streptococcus?
The bacteria Group B streptococcus (GBS) is one of several bacteria that reside in the human body. It is not a sexually transmitted infection (STI) and normally does not cause major sickness. Despite their similar names, GBS is not the same as group A streptococcus, the bacteria that causes “strep throat.”
- Why is group B streptococcus a concern for pregnant women?
In women, GBS is most seen in the vaginal and rectum. GBS can therefore be transmitted from a pregnant woman to her fetus during childbirth. This is an uncommon occurrence that happens in 1 or 2 kids out of 100 when the mother is not given antibiotics during labor. When a mother receives treatment, the chances of a newborn becoming ill are greatly reduced.
- How can group B Streptococcus affect a newborn?
Even though GBS in an infant is uncommon, it can be highly dangerous when it does occur. GBS can affect babies in two ways: early onset or late onset.
- What is early-onset disease?
A newborn with early-onset disease becomes ill within 12 to 48 hours of birth, or within the first seven days. Early-onset disease can lead to serious complications, such as:
- inflammation of the covering of the brain or spinal cord (meningitis)
- a pulmonary infection (pneumonia)
- bacterial infection in the blood (sepsis)
Even with immediate treatment, a small fraction of babies with early-onset illness die.
- What is late-onset disease?
A newborn with late-onset illness becomes ill anywhere from a week to a few months after birth. If the mother is infected, the disease is mainly spread via contact with her after birth. However, it can also arise from other sources, such as contact with other GBS patients.
Late-onset disease is also dangerous since it can lead to meningitis. The signs and symptoms of meningitis in infants can be difficult to detect. If your infant exhibits any of the following signs or symptoms of disease, contact your baby’s health care provider straight away:
- Lack of energy
- Irritability
- Poor feeding
- High fever
- Will I be tested for group B Streptococcus?
Yes, as part of standard prenatal care, pregnant women are tested for GBS. A culture test is used to diagnose GBS. It is now performed between weeks 36 and 38 of pregnancy. A swab is used to collect a sample from the vaginal and rectum in this test.
- What if the test result is positive?
If GBS is found, most women will begin receiving antibiotics through an intravenous (IV) line after labor has begun. This is done to keep the fetus safe from infection. The greatest time to get therapy is when you’re pregnant. Penicillin is the most common antibiotic administered to neonates to avoid early-onset illness. Antibiotic medication during pregnancy can help prevent early-onset GBS disease in a baby, but it does not prevent late-onset disease.
- What if I am allergic to penicillin?
If you are allergic to penicillin, let your doctor know before getting tested for GBS. A skin test may be used to detect the severity of your allergies. Other antibiotics can be prescribed if necessary.
- Are there times when antibiotics are given without test first?
In some situations, women are prescribed antibiotics during childbirth without being tested for GBS Antibiotics may be given without a test if the following conditions are met:
- You previously had a child with GBS disease.
- At any stage during your pregnancy, you have GBS bacteria in your urine.
- When you go into labor with a fever and your GBS status is unknown.
- You don’t know whether you have GBS and you go into labor before 37 weeks.
- Your GBS status is unknown, and your water has been broken for at least 18 hours.
- Your GBS status for this pregnancy is unknown, however you have previously tested positive for GBS.
- What if I plan on having a cesarean birth?
If labor has not begun and the amniotic sac has not burst (their water has not broken), antibiotics for GBS during delivery is not required. However, because labor may occur before a cesarean birth, these women should be checked for GBS. If the test is positive, the baby may need to be watched after birth for GBS disease.
- Glossary
Amniotic Sac: Fluid-filled sac in a woman’s uterus. The fetus develops in this sac.
Antibiotics: Drugs that treat certain types of infections.
Bacteria: One-celled organisms that can cause infections in the human body.
Cesarean Birth: Birth of a fetus from the uterus through an incision (cut) made in the woman’s abdomen.
Fetus: The stage of human development beyond 8 completed weeks after fertilization.
Group B Streptococcus (GBS): A type of bacteria that many people carry normally and can be passed to the fetus at the time of delivery. GBS can cause serious infection in some newborns. Antibiotics are given to women who carry the bacteria during labor to prevent newborn infection.
Intravenous (IV) Line: A tube inserted into a vein and used to deliver medication or fluids.
Meningitis: Inflammation of the covering of the brain or spinal cord.
Pneumonia: An infection of the lungs.
Prenatal Care: A program of care for a pregnant woman before the birth of her baby.
Rectum: The last part of the digestive tract.
Sepsis: A condition in which infectious toxins (usually from bacteria) are in the blood. It is a serious condition that can be life threatening. Symptoms include fever, rapid heart rate, breathing difficulty, and mental confusion.
Sexually Transmitted Infection (STI): An infection that is spread by sexual contact. Infections include chlamydia, gonorrhea, human papillomavirus (HPV), herpes, syphilis, and human immunodeficiency virus (HIV, the cause of acquired immunodeficiency syndrome [AIDS]).
Vagina: A tube-like structure surrounded by muscles. The vagina leads from the uterus to the outside of the body.
Source: Group B Strep and Pregnancy | ACOG
THE RH FACTOR: HOW IT CAN AFFECT OR PREGNANCY
- What is the Rh factor?
A protein located on the surface of red blood cells is known as the Rh factor. You are Rh positive if this protein is present in your blood cells. You are Rh negative if this protein does not exist in your blood cells. If you are Rh negative and your fetus is Rh positive, complications can arise during pregnancy. These issues can be avoided with treatment.
- How does a fetus get the Rh factor?
The Rh factor is hereditary, which means it is passed down through the generations. The Rh factor can be inherited by the fetus from either the father or the mother and the majority of people are Rh positive. Rh negative refers to a fetus who does not inherit the Rh factor from either the mother or the father. Rh incompatibility occurs when a woman is Rh negative and her fetus is Rh positive.
- Why is Rh incompatibility a problem?
When a Rh-positive fetus’ blood enters a Rh-negative woman’s bloodstream, her body recognizes that the Rh-positive blood is not hers. Anti-Rh antibodies will be produced by her body in an attempt to kill it. These antibodies can get across the placenta and attack the blood cells of the fetus. A fetus or newborn can suffer major health problems, even death, as a result of this.
- How do Rh antibodies develop?
Normally, a woman and her fetus do not share blood throughout pregnancy. However, a little amount of fetus blood can occasionally mix with the woman’s blood. This can occur during labor and delivery. It can also happen when:
- Amniocentesis or chorionic villus sampling (CVS)
- Bleeding during pregnancy
- Attempts to manually turn a fetus so he or she is head-down for birth (move the fetus out of a breech presentation)
- Trauma to the abdomen during pregnancy
- When do Rh antibodies cause problems?
During a Rh-negative woman’s first pregnancy with a Rh-positive fetus, health concerns are rare. This is due to her body’s inability to produce a large number of antibodies. However, if treatment is not provided during the first pregnancy and the woman subsequently becomes pregnant with a Rh-positive fetus, she will produce more antibodies. Antibodies increase the danger of a future fetus.
- Can Rh antibodies develop when a pregnancy is not carried to term?
Yes, a Rh-negative woman also can make antibodies after:
- Miscarriage
- Ectopic pregnancy
- Induced abortion
If a Rh-negative woman gets pregnant after one of these events and has not received treatment, a future fetus may be at risk of complications if it is Rh positive.
- How can Rh antibodies affect a fetus?
Rh antibodies produced in a woman’s body during pregnancy can cross the placenta and damage the Rh factor on fetal blood cells. This can result in a serious type of anemia in the fetus, in which the body’s ability to replace red blood cells is outpaced by the body’s ability to destroy them.
Red blood cells transport oxygen throughout the body. The fetus will not obtain adequate oxygen if there aren’t enough red blood cells. Anemia can kill a fetus or a newborn in some situations. A newborn’s jaundice can also be caused by Rh incompatibility.
- Can Rh problems be avoided?
Yes, complications caused by Rh incompatibility during pregnancy can be avoided. The purpose of treatment is to prevent Rh antibodies from being produced in the first place in a Rh-negative woman. This is accomplished by determining whether you are Rh negative early in pregnancy (or before pregnancy) and, if necessary, prescribing medication to inhibit the formation of antibodies.
- How can I find out if I am Rh negative?
Your blood type and Rh status can be determined with a simple blood test. In the office of your obstetrician-gynecologist (ob-gyn) or other obstetric care provider, a blood sample can be obtained. This sample is normally collected during the first prenatal appointment.
- What is an antibody screen?
Another blood test that can reveal whether a Rh-negative woman has developed antibodies to Rh-positive blood. This test can also reveal the number of antibodies produced.
- When would I need to have an antibody screen?
Your ob-gyn or other obstetric care provider may order this test during your first trimester if you are Rh negative and there is a chance that your fetus is Rh positive. This test may be repeated at 28 weeks of pregnancy. You may be tested more frequently in some instances.
- What is Rh immunoglobulin?
Rh immunoglobulin (Rhlg) is a drug that prevents the body from producing antibodies if it hasn’t done so already. This can help avoid severe fetal anemia in the future. RhIg is administered as a shot. If you’re in this scenario, talk to your obstetrician or other obstetric care provider about whether you need RhIg and when you’ll get it. If your body has already produced Rh antibodies, it will be ineffective.
- When would I need to take RhIg?
At 28 weeks of pregnancy – a small percentage of Rh-negative women may be exposed to Rh-positive blood cells from the fetus in the last few months of pregnancy and develop antibodies against them. When RhIg is given at 28 weeks of pregnancy, the Rh-positive cells in the woman’s body are destroyed. This prevents the production of Rh-positive antibodies.
Within 72 hours of the birth of a Rh-positive baby—During delivery, there is the greatest risk that the blood of a Rh-positive fetus will enter the bloodstream of a Rh-negative woman. RhIg prevents a Rh-negative woman from producing antibodies that could harm her pregnancy in the future. The medication is only effective during the pregnancy for which it is prescribed. A repeat dosage of RhIg is required for each pregnancy and delivery of a Rh-positive infant.
- Are there other times when I might need RhIg?
Yes, a dose of RhIg also may be needed:
- After an ectopic pregnancy, miscarriage, or abortion
- After amniocentesis, CVS, fetal blood sampling, or fetal surgery
- If you had bleeding during pregnancy
- If you had trauma to the abdomen during pregnancy
- If attempts were made to manually turn a fetus from a breech presentation
- What happens if antibodies develop?
If a Rh-negative woman has already produced antibodies, RhIg treatment is ineffective. In this situation, the fetus’s health will be monitored throughout the pregnancy, mainly by ultrasound exams.
- What if the fetus’s blood tests reveal severe anemia?
Early birth (before 37 weeks of pregnancy) may be required if ultrasound scans reveal the fetus has significant anemia. Giving a blood transfusion through the umbilical cord while the fetus is still in the woman’s uterus is another alternative.
- What if the anemia in the fetus is only mild?
If the anemia is minimal, the baby may be delivered at a typical time. The newborn may require a blood transfusion to replace blood cells after delivery.
Glossary
- Amniocentesis: A procedure in which amniotic fluid and cells are taken from the uterus for testing. The procedure uses a needle to withdraw fluid and cells from the sac that holds the fetus.
- Anemia: Abnormally low levels of red blood cells in the bloodstream. Most cases are caused by iron deficiency (lack of iron).
- Antibodies: Proteins in the blood that the body makes in reaction to foreign substances, such as bacteria and viruses.
- Breech Presentation: A position in which the feet or buttocks of the fetus would appear first during birth.
- Cells: The smallest units of a structure in the body. Cells are the building blocks for all parts of the body.
- Chorionic Villus Sampling (CVS): A procedure in which a small sample of cells is taken from the placenta and tested.
- Ectopic Pregnancy: A pregnancy in a place other than the uterus, usually in one of the fallopian tubes.
- Fetus: The stage of human development beyond 8 completed weeks after fertilization.
- Genes: Segments of DNA that contain instructions for the development of a person’s physical traits and control of the processes in the body. They are the basic units of heredity and can be passed from parent to child.
- Induced Abortion: An intervention to end a pregnancy so that it does not result in a live birth.
- Jaundice: A buildup of bilirubin (a brownish yellow substance formed from the breakdown of red cells in the blood) that causes the skin to have a yellowish appearance.
- Miscarriage: Loss of a pregnancy that is in the uterus.
- Obstetric Care Provider: A health care professional who cares for a woman during pregnancy, labor, and delivery. These professionals include obstetrician–gynecologists (ob-gyns), certified nurse–midwives (CNMs), maternal–fetal medicine specialists (MFMs), and family practice doctors with experience in maternal care.
- Obstetrician–Gynecologist (Ob-Gyn): A doctor with special training and education in women’s health.
- Oxygen: An element that we breathe in to sustain life.
- Placenta: An organ that provides nutrients to and takes waste away from the fetus.
- Prenatal Care: A program of care for a pregnant woman before the birth of her baby.
- Rh Factor: A protein that can be found on the surface of red blood cells.
- Rh Immunoglobulin (RhIg): A substance given to prevent an Rh-negative person’s antibody response to Rh-positive blood cells.
- Trimester: A 3-month time in pregnancy. It can be first, second, or third.
- Ultrasound Exams: Tests in which sound waves are used to examine inner parts of the body. During pregnancy, ultrasound can be used to check the fetus.
- Umbilical Cord: A cord-like structure containing blood vessels. It connects the fetus to the placenta.
- Uterus:A muscular organ in the female pelvis. During pregnancy, this organ contains and nourishes the fetus.
Source: The Rh Factor: How It Can Affect Your Pregnancy | ACOG
