Fetal Diagnosis & management

A large number of likely fatal birth defects are detected right before birth because of the presence of imaging and diagnostics. He makes a use of high-tech tools to evaluate and diagnose fetal conditions. 

baby birth

Fetal Diagnosis and management


A large number of likely fatal birth defects are detected right before birth because of the presence of imaging and diagnostics.He makes a use of high-tech tools to evaluate and diagnose fetal conditions. And some of the common used diagnostic tool includes:

Ultrasound scan for structural abnormalities

Early anomaly scan (12-16 weeks)

Usually structural scan is performed at 18-20 weeks, nevertheless, using high-quality instruments and specific ultrasound settings, early detection of abnormalities is possible.Current research and studies shows that during first trimester approximately 56% of anomalies can be detected.

Benefits of early scan

  • Early detection and exclusion of many anomalies
  • Early reassurance to the expecting mother
  • Early detection of genetic syndrome
  • Safer terminations of pregnancies if appropriate

 

Second trimester anomaly scan or Level-II scan

This type of scan is performed in detail at 18-23 weeks, during which each part of fetal anatomy is checked to see whether the baby is developing normally. Special attention is paid to the brain, face, spine, heart, stomach, bowel, kidneys and limbs.

What will happen when I go into the scan room?

The room having dimmed light, gives best results for scan . Scanning requires a lot of concentration, especially when your baby is active. Thus the scanning is performed in a dark room.You will be asked to rest in a couch, raise your upper garments to your chest and lower your trousers or saree to the top of your legs. Tissue paper will be concealed around your clothing to protect it from the ultrasound gel, that is then applied to your abdomen. The doctor then passes a hand-held device – a probe, applying slight pressure.

Many a times, the examinations takes place between 30 and 40 minutes but generally you are asked to wait long to allow your baby to move into comfortable position.The doctor will figure out the heartbeat of baby and different parts of his body like face and hands, before getting into detail.It may be difficult to make out the organs of baby, as doctor look at them in different angles and sections.Bones of your baby may appear white on the scan and soft tissues looks grey and spotted. The amniotic fluid around your baby may look black.

What might be seen?

Many a times serious abnormalities are detected on a scan. Nevertheless, it is not possible to visualize all problems and some are found only after the birth. Some situations like cerebral palsy and autism are never seen on a scan.The quality of the scan image relies on different factors, like the position of the baby and the size of the mother. Take for an example; if the mother is overweight, it becomes difficult to see the baby clearly. A poor image may affect our ability to indicate problems.

At the time of scan, the doctor will measure parts of baby’s body, to check how well it is growing. The doctor will measure baby’s:

  • head circumference (HC)
  • abdominal circumference (AC)
  • femur or thigh bone (FL)
  • humerus or arm bone

The measurements must match the expectations for your baby, given its anticipated due date.
The doctor may look at the placenta (also called as -after birth). The placenta may be described as low if it reaches down to or cover the neck of your uterus (your cervix). If the placenta is low lying, you may have to have another scan in the eight month to check its position. By then, it is likely the placenta may move away from your cervix.
The doctor then looks at the baby’s head, spine, face, heart, stomach, abdominal wall, umbilical cord, hands, feet, kidneys, amniotic fluid in brief.

A large number of likely fatal birth defects are detected right before birth because of the presence of imaging and diagnostics.He makes a use of high-tech tools to evaluate and diagnose fetal conditions. And some of the common used diagnostic tool includes:

Ultrasound scan for structural abnormalities

Early anomaly scan (12-16 weeks)

Usually structural scan is performed at 18-20 weeks, nevertheless, using high-quality instruments and specific ultrasound settings, early detection of abnormalities is possible.Current research and studies shows that during first trimester approximately 56% of anomalies can be detected.

Benefits of early scan

  • Early detection and exclusion of many anomalies
  • Early reassurance to the expecting mother
  • Early detection of genetic syndrome
  • Safer terminations of pregnancies if appropriate

 

Second trimester anomaly scan or Level-II scan

This type of scan is performed in detail at 18-23 weeks, during which each part of fetal anatomy is checked to see whether the baby is developing normally. Special attention is paid to the brain, face, spine, heart, stomach, bowel, kidneys and limbs.

What will happen when I go into the scan room?

The room having dimmed light, gives best results for scan . Scanning requires a lot of concentration, especially when your baby is active. Thus the scanning is performed in a dark room.You will be asked to rest in a couch, raise your upper garments to your chest and lower your trousers or saree to the top of your legs. Tissue paper will be concealed around your clothing to protect it from the ultrasound gel, that is then applied to your abdomen. The doctor then passes a hand-held device – a probe, applying slight pressure.

Many a times, the examinations takes place between 30 and 40 minutes but generally you are asked to wait long to allow your baby to move into comfortable position.The doctor will figure out the heartbeat of baby and different parts of his body like face and hands, before getting into detail.It may be difficult to make out the organs of baby, as doctor look at them in different angles and sections.Bones of your baby may appear white on the scan and soft tissues looks grey and spotted. The amniotic fluid around your baby may look black.

What might be seen?

Many a times serious abnormalities are detected on a scan. Nevertheless, it is not possible to visualize all problems and some are found only after the birth. Some situations like cerebral palsy and autism are never seen on a scan.The quality of the scan image relies on different factors, like the position of the baby and the size of the mother. Take for an example; if the mother is overweight, it becomes difficult to see the baby clearly. A poor image may affect our ability to indicate problems.

At the time of scan, the doctor will measure parts of baby’s body, to check how well it is growing. The doctor will measure baby’s:

  • head circumference (HC)
  • abdominal circumference (AC)
  • femur or thigh bone (FL)
  • humerus or arm bone

 

The measurements must match the expectations for your baby, given its anticipated due date.
The doctor may look at the placenta (also called as -after birth). The placenta may be described as low if it reaches down to or cover the neck of your uterus (your cervix). If the placenta is low lying, you may have to have another scan in the eight month to check its position. By then, it is likely the placenta may move away from your cervix.
The doctor then looks at the baby’s head, spine, face, heart, stomach, abdominal wall, umbilical cord, hands, feet, kidneys, amniotic fluid in brief.

What sort of problems can be found?

Each single problem likely to get identify by scanning and types of congenital abnormalities are listed below.

Which means that even if your test is normal, there may be a small risk that your baby will have a problem.A few conditions, which include coronary heart defects and bowel obstructions, might not be visible till later in your pregnancy . Having your anomaly scan will most likely rule out all these situations, as the tremendous majority of infants are born healthy.

Multiple Pregnancy Scan

Dr Sachin offers you personalised services in case you’re pregnant with 2 or more foetuses .
Knowing you’re having a couple of child can be exciting and overwhelming at the same time. We’re as worried as you, for your health and the health of your babies. That’s why we give you genetic counselling, fetal imaging and nutritional guidance all through the most essential time of development.

What are the risks to my babies?

Dichorionic or non-identical twins:
There’s a high chance of preterm baby delivery, increased growth restriction and lower birth weight (<2.5 kg) in twin pregnancy . Preterm infants are at risk of lung immaturity, contamination and infection, intestinal problems and require extended hospital stay.

Monochorionic or identical twins

In addition to above dangers, there may be a small accelerated risk of birth defects in similar twins. They may be also liable to complications and complexity from unequal sharing of the placenta which includes differential cultivation and growth style, Twin Twin Transfusion Syndrome (TTTS), acardiac twinning and even dying of a single child may lead to neurological complications inside the surviving twin.

Plan of antenatal care for twin pregnancy:

First trimester screening

All twin pregnancies should first be seen at around 12 weeks. An ultrasound at this time helps in assigning the ‘chorionicity’, that’s the single most essential aspect in figuring out prognosis and directing in addition management. On the other side, this test allows in detection of chromosomal abnormalities like Down syndrome and certain different birth defects in either of the twin.A fetal anomaly scan is carried out at 18 to 20 weeks to search for structural abnormalities in both infants. At every visit, the mom’s blood pressure is checked and urine tested for proteins.

Dichorionic (DCDA) twin pregnancy

Growth scans or fetal well being scans are carried out at 4 weekly durations, ie about at 24, 28, 32 and 36 weeks respectively.

Monochorionic (MCDA) twins

Monochorionic pregnancies are observed at 2 weekly intervals, ie at 16, 18, 20, 22, 24, 26, 28, 32, 34 and 36 weeks.

Ultrasound scan to assess fetal health

Fetal viability scan

It is an ultrasound examination that is normally accomplished vaginally. It pursuits to decide the number of fetuses present and whether or not the pregnancy is inside the uterus. This scan is beneficial for women who’re experiencing pain or bleeding inside the pregnancy and who’ve had previous miscarriages.

Fetal wellbeing scan

Some obstetricians suggest that an ultrasound scan to evaluate fetal well-being is advisable to all women at about 30-32 week of being pregnant. Others reserve such scans for the ladies who have had previous complexity of pregnancy which includes pre-eclampsia, growth retardation, diabetics, stillbirth and for those women who have an abnormality in on-going pregnancy.

Doppler scan

During ongoing pregnancy, Doppler ultrasound may be used to have a look at and examine the blood flow in an unborn baby (fetus) to check the health of the fetus.

Fetal echocardiography

Imaging the fetal heart with ultrasound, to understand the fetal cardiac shape, feature and rhythm.A fetal echocardiogram is a specialized ultrasound that equips a detailed view of your child’s coronary heart. Also known as a fetal echo, this test is used to observe the shape and function of your baby’s coronary heart earlier than he or she is born. It is especially suggested for humans with a heredity of family coronary heart abnormalities or where elevated nuchal translucency has been discovered on the 12 week scan.Fetal echocardiograms help us identify and diagnose congenital heart defects earlier than infant’s birth. A detailed examination of the fetal heart and connecting vessels is processed typically at 20 weeks .Ultrasound is used to have a look at the heart chambers, valves, and vessels. Dr Sachin is highly trained in scanning the fetal heart.

Advanced imaging

3-D and 4-D Ultrasound

When would I have 3D/ 4D images of my baby?

Many mothers and fathers enjoy the bonding felt after they see their baby on 3-D/4D imaging.
We aim to obtain clear quality 3-D/4D pics of your child in any gestation beyond the early pregnancy, but we additionally think it is vital to ensure that your child is healthful and growing nicely. For that reason, the 3-D/4D pics of your baby are often executed on the cease of the exam, after the baby has been fully assessed in second ultrasound while all routine measurements and other photos are completed.

3-D/4D photographs of your infant have to be visible as a brought bonus of the exam, instead of the primary reason of the scan. At advanced women’s Imaging, we do not carry out a stand-alone 3-D/4D ultrasound for “leisure” only (as is offered in some practices).The fine quality time to acquire exact 3D/4D pictures of your baby is between 24 and 34 weeks.

Pics at 18-20 week morphology ultrasound will appear similar to the adorable child face with chubby cheeks, you may have spotted and seen on television or in a newspaper article. Babies earlier in the pregnancy do not have the identical amount of subcutaneous fats.This means your child will look less “Filled out”, and extra skeletal or bony, at the three-D/4D photos. Many mother and father still revel in seeing these early 3D/4D photos, especially when their child movements around. These pictures also are true to reap on earlier ultrasounds, considering that many women will now not want to go back for a third trimester ultrasound.Beautiful and clear 3-D/4D photographs of your baby, mainly infant’s face, are regularly seen on a 3rd trimester ultrasound.

Quality 3D/4D imaging requires a co-operative infant and good enough amniotic fluid in the front of the shape being imaged. Some babies press against the wall of the uterus or placenta, or they may have their palms or hands lying in front of the face. This will make acquiring 3-d/4D pics difficult or not possible.It is ideal for parents to count on seeing their developing child, but no reason to be too upset if the 3D/4D photographs are difficult to obtain or the images of child’s face are not possible to get.

Prenatal Diagnosis of gene disorders like Thalassemia,Sickle cell anemia etc…

Invasive Procedures

Chorionic Villus Sampling

CVS is a test accomplished to test for all types of chromosomal abnormalities and prenatal prognosis of certain genetic disorders and problems like thalassemia in the baby.

Why is it done?

Frequently it’s practised to rule out chromosomal and genetic disorders within the infant and is advisable in the following conditions:

  • When there is a ‘high risk’ for chromosomal problems on first trimester screening)
  • When there’s an abnormality in the toddler on the primary trimester test
  • To rule out genetic problems like thalassemia, sickle cell anemia, muscular dystrophy etc.
  • If you have a historical family hereditary record of a genetic sickness for which the genetic mutation is known.

 

How is it done?

CVS is carried out with the aid of passing a needle through the mom’s tummy, under doze of local anaesthesia to achieve a small quantity of tissue from the placenta It is carried out under continuous ultrasound guidance as a way to avoid harm to the baby. In a few instances, the needle may be needed to put second time if sufficient tissue isn’t obtained in the first attempt.

It is done at 11 to 13 weeks of pregnancy. We opt to do it at around 12 weeks whilst we can do the primary trimester screening properly and rule out any structural abnormality in the child. The placental tissue is dispatched to the laboratory for testing. For some tests, dad and mom blood samples are also asked.

How painful is it? Will I be given anaesthesia?

Anaesthesia is given prior to the process. Majority of women undergoing the practice, mention it as uncomfortable or as painful as process of blood sampling.

What are the risks associated with it?

There may be small increased risk of miscarriage of around 1 in 100 for chorionic villus sampling. Although all precautions are taken at each stage in the practice to reduce contamination and infection, there remains a small danger of infection (1 in 1000). In about 1 in a hundred sufferers, the subculture may additionally fail and the full karyotype may be unavailable. In some cases, the results may also take longer or might not be available because of mosaicism. If a complete karyotype remains wanted, the medical doctor will offer you amniocentesis after 15 weeks.

What should I expect before the procedure?

The practice, its indication and the related dangers may be mentioned with you and you may be requested to sign a knowledgeable consent. Your blood group and other blood tests (HIV, Hepatitis B) will be checked.

What should I expect before the procedure?

You may be requested to rest and the baby’s heart beat might be checked after 1/2 an hour. You could have moderate bruising on the site of needle puncture. You can additionally have some spotting or slight cramping for a couple of hours.You may take oral paracetamol that is absolutely safe in pregnancy.

There is no restriction in your daily activities though the medical doctor can also advice you to stay at rest for three days to limit and lower the chances of infection. If you have fever, vaginal bleeding or leaking or contractions, you ought to reach and inform to the health facility centre.

How long do the results take to come?

The FISH report comes inside 3 full running days; the karyotype report takes two to three weeks. The timing of different results will depend on the test done and commonly varies between seven to ten running days. You’ll be approached as quickly as the reports are available and a soft copy can be mailed to you on the very same day.

Fetal Blood Sampling

Genetic Amniocentesis

Amniocentesis is a test performed at some point of pregnancy to check for chromosomal problems, genetic disorders and infections in the fetus.

Why is it done?

  • When there’s a ‘high risk’ for chromosomal problems on first trimester or at 2nd trimester screening (triple or quadruple marker)
  • When there may be a excessive suspicion for Down syndrome on ultrasound in the second trimester
  • When there is an abnormality inside the baby at the scan
  • To rule out certain genetic disorders like SLO syndrome, icthyosis and so on.
  • Amniocentesis can be performed to affirm fetal infection whilst the mother is suspected to have infections, like rubella, CMV, toxoplasma, and so on.

 

How is it done?

In Amniocentesis, a thin needle via the mom’s tummy to reap a small quantity of amniotic fluid from around the fetus. It is practiced under continuous ultrasound guidance in order that the needle avoids both the baby in addition to the placenta. Every so often, the needle can also require to be inserted two times to reap an adequate fluid.

This process is commonly completed between 15 to 18 weeks of pregnancy; however it is able to be performed every time afterwards while indicated. Amniotic fluid carries the infant’s cells which can be analysed in the lab. Fluorescent In Situ Hybridization (FISH) technique assessments for the maximum common chromosomal abnormalities, specifically trisomy 21 (Down syndrome), trisomy 18 (Edward’s syndrome), trisomy thirteen (Patau’s syndrome) and the sex chromosomes. A complete karyotype which indicates all of the 46 chromosomes of the fetus is carried out by culturing the fetal cells.

How painful is it? Will I be given anaesthesia?

Majority of women undergoing the process claims it as unpleasant or painful likely as of blood sampling. Nominal local anaesthesia is given for amniocentesis.

What are the risks associated with it?

There may be small hazard of miscarriage of round 1 in 200 with amniocentesis and 1 in 100 for chronic villus sampling. Even though all precautions are taken at some stage in the process to decrease contamination, there stays a small threat of infection (1 in one thousand). In about 1 in one hundred patients, the subculture might also fail and the full karyotype may be unavailable.

What should I expect before the procedure?

The health practitioner will provide an explanation for the process, why it need to be done and the associated risk hazards as mentioned above. You will be asked to sign an informed consent. Your blood group and few other blood assessments (HIV, Hepatitis B) might be asked to be checked.

What should I expect before the procedure?

You’ll be requested to relax within the department and the fetus heart beat may be checked after half of an hour. There may be no restrict in your daily activity and work even though the physician may additionally advice you to rest at home for three days to decrease probabilities of contamination and infection.

You can have moderate bruising at the site of needle access. You can additionally have slight cramping for more than one hour. If you have fever, vaginal bleeding or leaking or contractions, you must approach to the medical institution or doctor.

How long do the results take to come?

The FISH record comes inside three full working days; the karyotype report takes 2 to three weeks. The timing of different results will rely upon the test carried out and normally varies among 7 to 10 working days. You may obtain a call from us as quickly because the reviews are meant to be had tendered soft copy may be mailed to you at the very same day.

Embryo Reduction

In case of multiple pregnancy , it’s far really helpful to lessen the number of fetuses to two, in order to decrease risks of more than one pregnancy to the mother as well as to the fetuses.

Why is it advised?

As the number of fetuses increase, the dangers of preterm (early) baby delivery also grows with the same ratio. The average duration of pregnancy for a singleton is 40 weeks while for twins it’s 36 weeks. This reduces dramatically to 32 to 33 weeks for triplets and 28 to 29 weeks for quadruplets.
The prevalence of multiple pregnancy is increasing worldwide mainly because of increase in the availability and uptake of synthetic reproductive techniques.

When is embryo reduction done?

It can be done from eleven to thirteen weeks of being pregnant; at our centres, we favour to do it at around 12 weeks when we are able to do the first trimester screening and also rule out any structural abnormality in the fetus. In addition, approximately 8 to 20% of pregnancies may additionally reduce by way of themselves at the end of first trimester. The ‘vanishing’ twin does not have any destructive impact on the surviving fetus.

How is it done?

Embryo reduction is done by passing a needle via the mom’s tummy under nominal local anaesthesia and injecting a medicine into the fetus. It’s executed under continuous ultrasound guidance.

What are the risk associates to the procedure?

After fetal reduction, there is a 7 % threat that the woman will lose the entire pregnancy earlier to 20 weeks’ gestation. The original number of fetuses, the direction of the needle in addition to the number terminated may also affect the probability and the chances of pregnancy loss.

What should I expect after the procedure?

You’ll be requested to rest and the fetus heart beat can be checked after half of an hour of the process. You could have moderate bruising on the site of needle entry. You could additionally have some spotting or mild cramping for multiple hours for which you can take oral paracetamol. There may be no restriction for your day to day activities though the physician might also advice you to stay home for 3 days to decrease possibilities of contamination.
When you have fever, vaginal bleeding or leaking or contractions, you must come to the health practitioner or hospital.

Categories: