We at id Fetal Care understand that the first few months of pregnancy can be quite an anxious time for many women with various concerns as to whether the pregnancy is developing normally or that it may result in a miscarriage or even an ectopic pregnancy. An Early Pregnancy Scan (sometimes also called a Viability Scan or Dating Scan) provides reassurance in this very early stage of your pregnancy. A pregnancy can be seen from as early as 6 weeks from the first day of your last period (LMP) and not the date of conception. If you have had any bleeding or pain or any other symptoms then this scan will accurately confirm viability.
The nuchal translucency scan (also called the NT scan) uses ultrasound to assess your developing baby’s risk of having Down syndrome (DS) and some other chromosomal abnormalities, as well as major congenital heart problems.The NT scan measures the clear (translucent) space in the tissue at the back of your baby’s neck. Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first trimester, causing this clear space to be larger than average. The NT scan is not invasive. The NT scan must be done when you’re between 11 and 14 weeks pregnant, because this is when the base of your baby’s neck is still transparent. (The last day you can have it is the day you turn 13 weeks and 6 days pregnant.) It’s usually offered along with a blood test in first-trimester combined screening options.
A scan is performed at 18 to 20 weeks when the fetus is large enough for an accurate survey of the fetal anatomy, and when dates and growth can also be assessed. After your baby’s heartbeat is checked, the main purpose of this scan is to check your baby’s anatomy for normality. A thorough examination of your baby’s brain, heart, spine, kidneys, organs and limbs will be undertaken. The placenta will be checked for its position, and measurements of your baby will be performed to ensure it is growing normally. Further scans may be necessary if abnormalities are suspected.
An ultrasound scan is the only way to confirm that you’re pregnant with twins. The earliest you’re likely to find out is between 10 weeks and 13 weeks plus six days, when you have your dating scan. Ultrasound is almost foolproof at diagnosing twins. However, if you’re carrying more than two, it gets harder to tell how many babies you’re expecting. The sonographer may struggle to tell your babies apart. Your dating scan will also determine whether your due date is correct. If you’re pregnant as a result of a fertility treatment, you’re usually offered an ultrasound scan at about six weeks to confirm that all is well.
A Doppler scan measures the blood flow through the umbilical cord and around different parts of your baby’s body, such as his brain and heart. This helps to show whether he’s getting all the oxygen and nutrients he needs via the placenta. You can have a Doppler scan at the same time as a normal scan, as it uses the same equipment. Most ultrasounds have a Doppler function. The person carrying out the scan (sonographer) will put some gel on your tummy and move a hand-held device (transducer) over your skin. As with all ultrasound scans, Doppler scans are safe in trained hands. When carried out by a trained sonographer, doctor or midwife, a Doppler scan helps to give a clear picture of your baby’s health and wellbeing. Doppler scans should not be used before 24 weeks. But used properly, Doppler scans pose no risk to your baby in the second and third trimesters.
Fetal echocardiography is a test similar to an ultrasound. This exam allows your doctor to better see the structure and function of your unborn child’s heart. It’s typically done in the second trimester, between weeks 18 to 24. The exam uses sound waves that “echo” off the structures of the fetus’s heart. A machine analyzes these sound waves and creates a picture, or echocardiogram, of their heart’s interior. This image provides information on how your baby’s heart formed and whether it’s working properly. It also enables your doctor to see the blood flow through the fetus’s heart. This in-depth look allows your doctor to find any abnormalities in the baby’s blood flow or heartbeat. Not all pregnant women need a fetal echocardiogram. For most women, a basic ultrasound will show the development of all four chambers of their baby’s heart. Your OB-GYN may recommend that you have this procedure done if previous tests weren’t conclusive or if they detected an abnormal heartbeat in the fetus.
Central nervous system (CNS) malformations are some of the most common of all congenital abnormalities. Neural tube defects are the most frequent CNS alformations and amount to about 1–2 cases per 1000 births. The incidence of intracranial abnormalities with an intact neural tube is uncertain as probably most of these escape detection at birth and only become manifest in later life. Long-term follow-up studies suggest however that the incidence may
be as high as one in 100 births. Ultrasound has been used for nearly 30 years as the main modality to help diagnose fetal CNS anomalies. The scope of these guidelines is to review the technical aspects of an optimized approach to the evaluation of the fetal brain in surveys of fetal anatomy, that will be referred
to in this document as a basic examination. Detailed evaluation of the fetal CNS (fetal neurosonogram) is also possible but requires specific expertise and sophisticated ultrasound machines. This type of examination, at times complemented by three-dimensional ultrasound, is indicated in pregnancies at increased risk of CNS anomalies. In recent years fetal magnetic resonance imaging (MRI) has emerged as a promising new technique that may add important information in selected cases and mainly after 20–22 weeks, although its advantage over ultrasound remains debated.
The most common reason for a scan in the third trimester is to check that your baby is growing normally. You will be offered a growth and fetal wellbeing scan between 28 weeks and 32 weeks of pregnancy. This will show your doctor how your baby is growing.
You will get another growth scan and colour doppler studies closer to your due date, between 36 and 40 weeks to:
1) check the position of umbilical cord
2) measure the amount of amniotic fluid
3) check the placental position and maturity
4) know your baby’s position and weight
5) check your baby’s wellbeing and circulation
6) assess how a previous caesarean scar appears
Prenatal aneuploidy screening has changed dramatically in recent years with increases in the types of chromosomal abnormalities reliably identified and in the proportion of aneuploid fetuses detected. Initially, screening was available only for trisomies 21 and 18 and was offered only to low-risk pregnancies. Improved detection with the quadruple- and first-trimester multiple marker screens led to the option of aneuploidy screening for women 35 years of age and older. Cell-free DNA tests now screen for common autosomal trisomies and sex chromosome aneuploidies. Cell-free DNA screening is particularly effective in older women because of higher positive predictive values and lower false-positive rates. Integrated first- and second-trimester multiple marker tests provide specific risks for trisomies 21, 18, and possibly 13, and may detect an even wider range of aneuploidies. Given current precision in risk assessment, based on maternal age and preferences for screening or diagnostic tests, counseling has become more complex. This review addresses the benefits and limitations of available aneuploidy screening methods along with counseling considerations when offering them.
Genetic counseling is the process of determining the risk you have of passing on an inheritable disease to your baby. Genetic counseling involves a specially trained health care professional who identifies families at risk, investigates the problem present in the family, interprets information about the disorder, analyzes inheritance patterns and risk of recurrence, and reviews available options with the family.
According to the Centers for Disease Control and Prevention (CDC), approximately 3% of babies born in the United States will have a birth defect. Genetic counseling is not necessary for the majority of couples who are pregnant or planning on getting pregnant.
Genetic counseling should be considered by couples who have one or more of the following risk factors:
1) Abnormal results from routine prenatal testing.
2) Amniocentesis results that identify a chromosomal defect.
3) An inherited disease present in a close family member.
4) A child with a birth defect or genetic disorder.
5) Mother over 35 years old.
(To be inducted)
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