Hypoplastic left heart syndrome (HLHS) can be diagnosed prenatally, using ultrasound
There are 4 chambers (sections) that make up the heart
Two ventricles (lower chambers) and two atria (upper chambers)
HLHS will appear on an ultrasound report when the lower chamber of the left side of the heart – the left ventricle – is smaller than expected
If the left ventricle is not well developed, blood may not flow normally out of the heart and through the aorta to the rest of the baby
1 out of every 4,344 babies born in the U.S. have HLHS
Image credit: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities
(CLICK IMAGE TO ENLARGE)
RA: Right Atrium | LA: Left Atrium | RV: Right Ventricle | LV: Left Ventricle | TV: Tricuspid Valve | MV: Mitral Valve | SVC: Superior Vena Cava | Ao: Aorta | MPA: Main Pulmonary Artery
WHAT TO EXPECT:
Your doctor may suggest the following to determine the best management plan for Your pregnancy
Further ultrasound to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
Amniocentesis or chorionic villus sampling (CVS) using microarray technology (see Related Topics below) to find out if the baby has any genetic changes that could explain this finding
Consultation with other specialists, including
Maternal Fetal Medicine (MFM) experts, pediatric cardiologists, and surgeons, to discuss potential surgical repair and appropriate setting for delivery
Other specialists who deal with children who may need specialized nursery care at birth, who can provide you with more information about what to expect
Genetic services
UNDERLYING CAUSE:
In most cases, a cause is not found
However some genetic syndromes may be associated with HLHS, especially in the setting of other fetal structural anomalies
If no other findings appear on ultrasound, it is less likely to be associated with a genetic syndrome
Genetic counselors are experts at communicating and educating about birth defects and can provide valuable help in understanding whether there is risk to future children or other family members
KEY POINTS:
HLHS may be diagnosed prenatally on ultrasound
Infants may require multi-step operative procedures after birth, which are not curative, but rather have the goal of restoring function
Knowing before birth can be very helpful to ensuring a proper pregnancy and delivery plan is in place
Unfortunately, although surgeries or even heart transplant may be available for some children, HLHS is still associated with a significant decrease in survival and high complication rates
HLHS is considered a ‘critical congenital heart defect’ which means intervention after birth will be required
A ‘multidisciplinary’ approach will ideally include high risk obstetrics, neonatology, genetics and pediatric cardiology teams
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Renal Pyelectasis on Prenatal Ultrasound
WHAT IS IT?
Renal pyelectasis (also called hydronephrosis or dilation) describes the condition where the tube that carries urine from the fetal kidney to the bladder is distended and wider than expected
Diagnosis is based on prenatal ultrasound measurements
Renal pyelectasis is seen in 1 to 3 per 100 pregnancies during second trimester
Most cases will resolve on their own prior to delivery
WHAT TO EXPECT:
Your doctor may suggest the following to determine the best management plan for your pregnancy
Further ultrasound(s) to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
If no other fetal abnormalities are seen
Your obstetric provider may offer screening for Down syndrome and other chromosomal disorders if not already done
If the screening test for Down syndrome does not show increased risk, further genetic workup is not necessary
Another ultrasound later in pregnancy can be done to see whether the renal pyelectasis has cleared up and the tube is back to normal size
If the Down syndrome screening result shows increased risk for a fetal chromosomal problem
Referral for genetic counseling and consideration of diagnostic testing options, such as amniocentesis or chorionic villus sampling (CVS), is advised to confirm whether or not a genetic problem is actually present
KEY POINTS:
Renal pyelectasis is more commonly observed in a male fetus
If the ultrasound is otherwise normal and screening tests do not show an increased risk for Down syndrome, then additional genetic follow-up is not absolutely indicated
If the follow-up ultrasound later in pregnancy shows that the distention is still present, referral to pediatric specialists may be needed to plan follow up after delivery
Many children can be managed without surgery and in some cases, renal pyelectasis will clear up after delivery
If the distention does not correct, it is helpful to know early as children will benefit from close follow up to ensure kidneys develop normally
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Transposition of the Great Arteries
WHAT IS IT?
Transposition of the Great Arteries (TGA) is a serious heart condition that can be detected using prenatal ultrasound, although it can be difficult to identify and may not be diagnosed until after delivery
In a normal heart
The pulmonary artery carries deoxygenated (low oxygen) blood to the lungs
Oxygenated (high oxygen) blood returns from the lungs to the left side of the heart
From the left side of the heart, the oxygenated blood is pumped through the aorta to the rest of the body
In Transposition of the Great Arteries (TGA)
The pulmonary artery and aorta have changed places (i.e., they are transposed)
The aorta, which usually arises from the left (oxygenated) side of the heart, is now exiting the right side
The aorta now carries deoxygenated blood (instead of normal oxygenated blood) to the rest of the body, bypassing the lungs
5 out of 10,000 babies are born with TGA
TGA is referred to as a ‘cyanotic’ (lacking oxygen) defect leading to babies with bluish discoloration and shortness of breath, with symptoms dependent on whether there is any ability for the deoxygenated and oxygenated blood to mix and be delivered to the rest of the body
Surgery is often necessary shortly after birth, especially in the case of complete TGA (also known as d-TGA referring to ‘dextroposition’) which is considered a ‘critical congenital heart defect’
Transposition of the Great Arteries
(CLICK IMAGE TO ENLARGE)
RA: Right Atrium | LA: Left Atrium | RV: Right Ventricle | LV: Left Ventricle | TV: Tricuspid Valve | MV: Mitral Valve | SVC: Superior Vena Cava | Ao: Aorta | MPA: Main Pulmonary Artery
WHAT TO EXPECT:
Your doctor may suggest the following to determine the best management plan for your pregnancy
Further ultrasound to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
Amniocentesis or chorionic villus sampling (CVS) using microarray technology (see Related Topics below) to find out if the baby has any genetic changes that could explain this finding
Consultation with other specialists, including
Maternal Fetal Medicine (MFM) experts, pediatric cardiologists, and surgeons, to discuss potential surgical repair and appropriate setting for delivery
Other specialists who deal with children who may need specialized nursery care at birth, who can provide you with more information about what to expect
Genetic services
UNDERLYING CAUSE:
In most cases, a cause is not found, however some genetic syndromes may rarely be associated with TGA, especially in the setting of other fetal problems
If no other findings appear on prenatal ultrasound, it is less likely to be associated with a genetic syndrome
Genetic counselors are experts at communicating and educating about birth defects and can provide help in understanding TGA and whether there is risk to future children or other family members
KEY POINTS:
TGA is sometimes referred to as Transposition of the Great Vessels (TGV)
TGA is considered a ‘critical congenital heart defect’ and therefore, a multidisciplinary approach is required following prenatal diagnosis – including high risk obstetrics, neonatology, genetics and pediatric cardiology team
Knowing before birth can be very helpful to ensuring a proper pregnancy and delivery plan is in place
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Ventricular Septal Defect
WHAT IS IT?
A ventricular septal defect (VSD) describes a “hole” in the wall/septum between the two major heart chambers (sections) and may be detected during pregnancy using ultrasound
There are 4 chambers that make up the heart
Two ventricles (lower chambers) and two atria (upper chambers)
VSD will appear on an ultrasound report when there is a ‘hole’ or connection between the right and left ventricle
Depending on the size of the hole and other findings on ultrasound, symptoms can range from mild to severe
Many smaller holes will close on their own
VSD is the most common cause (approximately 50%) of all congenital heart defects
VSD alone, without any other abnormal findings, is estimated to occur in approximately 4 out of every 10,000 babies
Most VSDs will be isolated without other serious findings
Isolated VSDs account for 20% of all birth defects
Ventricular Septal Defect
(CLICK IMAGE TO ENLARGE)
RA: Right Atrium | LA: Left Atrium | RV: Right Ventricle | LV: Left Ventricle | TV: Tricuspid Valve | MV: Mitral Valve | SVC: Superior Vena Cava | Ao: Aorta | MPA: Main Pulmonary Artery
WHAT TO EXPECT:
Your doctor may suggest the following to determine the best management plan for your pregnancy
Further ultrasound(s) to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
Amniocentesis or chorionic villus sampling (CVS) using microarray technology (see Related Topics below) to find out if the baby has any genetic changes that could explain this finding
Consultation with other specialists, including
Maternal Fetal Medicine (MFM) experts, pediatric cardiologist and surgeons, to discuss potential surgical repair and appropriate setting for delivery
Other specialists who deal with children who may need specialized nursery care at birth, who can provide you with more information about what to expect
Genetic services
UNDERLYING CAUSE:
In most cases, a cause is not found, however some genetic syndromes may be associated with VSD, especially in the setting of other fetal problems seen on ultrasound
If no other findings appear on ultrasound, it is less likely to be associated with a genetic syndrome
May be associated with Down syndrome or 22q11.2 deletion syndrome as well as more rare disorders
Genetic counselors are experts at communicating and educating about birth defects and can provide help in understanding more about VSD and whether is risk to future children or other family members
KEY POINTS:
Further expert fetal imaging including fetal echocardiography is valuable to determine whether finding is isolated, as well as to ensure that a proper pregnancy and delivery plan is in place
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Tetralogy of Fallot
WHAT IS IT?
Tetralogy of Fallot (TOF) is a congenital heart defect, that occurs in approximately 1 in every 2,500 live births and accounts for 7 to 10% of all congenital heart defects
TOF derives its name (‘tetra’logy) from being a combination of 4 serious heart disorders that together cause abnormal blood flow that can be very dangerous if not diagnosed and managed appropriately
Prenatal diagnosis of TOF using ultrasound can allow for appropriate planning
There are 4 chambers (sections) that make up the heart
Two ventricles (lower chambers) and two atria (upper chambers)
The problems seen on ultrasound include abnormal development of the right ventricle and the vessels that carry blood out of the heart, as well as a hole in the heart between the two ventricles
The heart abnormalities in TOF means that the baby at birth will not have normal levels of oxygen in the blood flowing to the rest of the body
Low blood oxygen levels result in babies having a blue tinge to their skin, called cyanosis
Lack of sufficient oxygen at birth can results in multiple problems if TOF is not appropriately managed and corrected
Tetralogy of Fallot
Image credit: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities
(CLICK IMAGE TO ENLARGE)
RA: Right Atrium | LA: Left Atrium | RV: Right Ventricle | LV: Left Ventricle | TV: Tricuspid Valve | MV: Mitral Valve | SVC: Superior Vena Cava | Ao: Aorta | MPA: Main Pulmonary Artery
WHAT TO EXPECT:
Your doctor may suggest the following to determine the best management plan for your pregnancy
Further ultrasound(s) to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
Amniocentesis or chorionic villus sampling (CVS) using microarray technology (see Related Topics below) to find out if the baby has any genetic changes that could explain this finding
Consultation with other specialists, including
Maternal Fetal Medicine (MFM) experts, pediatric cardiologist, and surgeons to discuss potential surgical repair and appropriate setting for delivery
Other specialists who deal with children who may need specialized nursery care at birth, who can provide you with more information about what to expect
Genetics services
UNDERLYING CAUSE:
In most cases, a cause is not found, however some genetic syndromes may be associated with TOF
22q11.2 deletion syndrome and Down syndrome are examples of genetic disorders associated with TOF
Genetic counselors are experts at communicating and educating about birth defects and can provide help in understanding more about TOF and whether there is risk to future children or other family members
KEY POINTS:
TOF may be diagnosed prenatally on ultrasound
Infants may require multi-step operative procedures after birth, with the goal of restoring function
Knowing before birth can be very helpful to ensuring a proper pregnancy and delivery plan is in place
TOF is considered a ‘critical congenital heart defect’
A likelihood of surgery and intensive management and procedures during the first year of life
A multidisciplinary approach is required if prenatal diagnosis of TOF is made – including high risk obstetrics, neonatology, genetics and pediatric cardiology teams
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Second Trimester Nuchal Fold
WHAT IS IT?
The nuchal fold (NF) thickness is a measurement performed on prenatal ultrasound, and is the distance from the outer edge of the bone at the back of the head to the outer edge of the overlying skin. A nuchal fold thickness is only performed in the second trimester and should not be confused with a first trimester nuchal translucency (NT) measurement.
WHAT TO EXPECT:
The nuchal fold seen on ultrasound will be present in every pregnancy and the measurement will vary even among normal pregnancies, within a certain range
However, a measurement of 6mm or greater (almost a quarter of an inch) in the in the 2nd trimester is an independent risk factor for fetal abnormalities and requires referral and further follow up
Your doctor may suggest the following to determine the best management plan for our pregnancy
Further ultrasound(s) to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
Referral to genetic counseling services and consideration of diagnostic testing options such as amniocentesis or chorionic villus sampling (CVS) to confirm whether or not an underlying genetic problem is present (see ‘Related Topics’)
Most professional societies, including SMFM and ACOG recommend offering invasive testing using microarray in the setting of fetal structural anomalies seen on prenatal ultrasound
KEY POINTS:
Nuchal fold is sometimes confused with nuchal translucency
They both seen on prenatal ultrasound behind the neck/head of the developing baby
Measurements that are larger than normal can be associated with Down syndrome and other genetic problems and therefore, follow up is recommended
Note: In most cases, if there are no other findings, the baby will likely be normal at birth
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Short Femur on the Second Trimester Ultrasound Report
WHAT IS IT?
A short femur, or upper leg bone, will appear on a prenatal ultrasound report when the measurement of the bone is smaller than expected for a particular gestational age.
Femur length is one of the key measurements used to measure a baby’s growth during pregnancy and is therefore part of a standard ultrasound in the second trimester
The length of the baby’s femur will change and grow over time, and while there is an average measurement, some babies will have longer bones, and some shorter
If no other unusual or abnormal findings appear on ultrasound, most babies will be normal at birth
The finding of a short femur may be associated with chromosomal abnormalities such as Down syndrome, overall slow growth (baby is generally measuring small on ultrasound) or disorders that specifically affect bone growth
WHAT TO EXPECT:
Your doctor may suggest the following to determine the best management plan for your pregnancy
Further ultrasound(s) to look for any additional problems that may require attention, with special attention to the other bones
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
If additional problems are seen on ultrasound
Next steps may include referral to other specialties (for example, pediatrics and maternal-fetal medicine) to help develop a management plan to provide the best outcome possible
Genetic services may also sometimes be offered depending on the specific situation
Genetic counselors are experts at communicating unusual ultrasound findings during pregnancy and can provide help in understanding risks and appropriate follow up, including possible tests, that may be of benefit in determining the underlying cause
If no other fetal abnormalities are seen
Your obstetric provider may offer screening for Down syndrome and other chromosomal disorders if not already done
If the screening test for Down syndrome does not show increased risk, further genetic workup is not necessary
Another ultrasound later in pregnancy can be done to follow up on the bone measurements
If the Down syndrome screening result shows increased risk for a fetal chromosomal problem
Referral for genetic counseling and consideration of diagnostic testing options such as amniocentesis or chorionic villus sampling (CVS) is advised to confirm whether or not a genetic problem is actually present
KEY POINTS:
If fetal chromosome screening test is ‘screen negative’ (no increased risk for chromosome problems such as Down syndrome) and no other findings are seen on ultrasound, most babies will be normal at birth
An expert ultrasound evaluation is critical to rule out other problems and may be used to follow the baby’s growth during pregnancy
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Ashkenazi Jewish Background and Genetic Carrier Screening
WHAT IS IT?
Professional organizations recommend testing individuals of Ashkenazi (Central/Eastern European) Jewish (AJ) heritage who are pregnant or considering pregnancy
AJ screening entails offering a group of genetic tests often called ‘panels’
All people carry a few variants (changes in their DNA, also called ‘mutations’) that may impair the function of an important enzyme or other types of proteins
Thankfully, all genes come in pairs and for many disorders, as long as one copy is working, enough protein is available to maintain heath
A ‘carrier’ describes someone who has a serious change in only one copy of a gene pair
An individual is ‘affected’ when both gene copies, one inherited from the mother, the other from the father, both have a significant DNA change
With both gene copies damaged, not enough normal protein is available and disease will follow
Disorders that require both copies of a gene to be damaged demonstrates an autosomal ‘recessive’ inheritance pattern
There are some disorders where only one gene copy needs to be damaged to result in illness and demonstrates an autosomal ‘dominant’ inheritance pattern
What to Expect
ACOG guidelines recommend, at a minimum, to offer screening for the following disorders when offering genetic testing to those of Ashkenazi Jewish background
Tay Sachs Disease
Cystic Fibrosis
Canavan disease
Familial Dysautonomia
While these disorders have different signs and symptoms, all may have some serious consequences for a newborn baby
One of the benefits of testing is that if a baby is affected, the appropriate medical/surgical team can be prepared and parents will know what to expect as a pregnancy management plan is developed
ACOG has now included other disorders that ‘should be considered’ and can be further discussed before or during pregnancy
Additional Clinical Considerations
Both partners can be tested at the same time if the patient is pregnant and timing is a concern
If only one member of the couple is of Ashkenazi Jewish background, it is best to test that individual first, if possible
One Jewish grandparent is sufficient for testing
If patient is unsure of background, offer testing
Even if tested before, it is best to review previous tests to see if any new disorders may have been added
KEY POINTS:
Some of these disorders may range from mild to very serious
For example, cystic fibrosis can have relatively mild signs and symptoms or require multiple medications and supportive care
Even if a screening report comes back without finding a significant DNA change, genetic tests are not perfect and can still miss an important mutation
A ‘negative result’ (a report without a finding of a mutation) reduces the risk, but can not guarantee a genetic disorder or birth defect is not present
A carrier of an autosomal recessive disorder is healthy but has a risk of passing the mutation to her offspring
Genetic counseling should be available for anyone who requests further information
Genetics tests are always ‘offered’ – an individual always has the right to say ‘no’
When both partners are identified as carriers, there is a 25% (1 in 4) chance that the fetus is carrying both mutations
Prenatal diagnosis with amniocentesis or chorionic villus sampling should be offered
Preimplantation Genetic Diagnosis (PGD) could be considered in couples when both are carriers for the same condition
Carriers should consider informing other family members, as other relatives may be at risk as well
Genetic professionals can be very helpful in explaining why other family members may be at risk and how best to communicate this information
Testing for those of Jewish but non-Ashkenazi heritage
There are no guidelines specifically for Jews of Sephardic (descending from the Iberian/Spanish peninsula) or Mizrahi (Middle East, North Africa, Central Asia) heritage
Genetic testing panels that are comprehensive for Jewish individuals, regardless of area of origin, are now available and include over 90 disorders
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Nuchal Translucency and First Trimester Screening
WHAT IS IT?
Nuchal translucency (NT) describes a fluid filled space seen behind the fetal neck on ultrasound and is obtained during a first trimester ultrasound. This fluid filled space, usually a normal finding, represents fluid that is circulating around the fetus (developing baby) early in pregnancy.
While every fetus will have this NT space, measurements that are larger than expected place the pregnancy at higher risk for certain chromosomal problems, such as Down syndrome and Turner syndrome
Other genetic syndromes have also been associated with larger NT
A precise measurement of this space is an important part of standard screening for fetal chromosomal problems, including Down syndrome
An NT ultrasound measurement is usually done in the first trimester between 10 0/7 and 13 6/7 weeks of pregnancy
A blood sample is taken from the mother to check for certain blood protein levels (two common proteins that are usually measured are the hCG and PAPP-A proteins)
The NT size is combined with the information from the maternal blood sample to provide an adjusted risk for fetal Down syndrome (and sometimes other chromosomal problems)
Standard screening can only provide a risk assessment and can not tell for sure if a baby will be born with Down syndrome
Even if a test returns higher risk, it does not necessarily mean the baby will have Down syndrome
The purpose of this screening test is to help identify which pregnant women may be at higher risk and, therefore, benefit from further follow up and counseling
WHAT TO EXPECT:
The fluid filled space that is measured on ultrasound will be present in every pregnancy and will vary even among normal pregnancies, within a certain range
However, a measurement 3.0 millimeters (approximately a tenth of an inch) or greater in the first trimester is an independent risk factor for fetal abnormalities and requires referral and further follow up
Your doctor may suggest the following to determine the best management plan for your pregnancy
Further ultrasound to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
Referral to genetic counseling services and consideration of diagnostic testing options such as amniocentesis or chorionic villus sampling (CVS) to confirm whether or not an underlying genetic problem is indeed present
KEY POINTS:
While more commonly associated chromosomal issues include Down syndrome and Turner syndrome, an enlarged NT can also be associated with other genetic syndromes, especially if other abnormalities are seen on ultrasound (for example, heart or kidney problems)
Note: Professional programs exist for credentialing purposes that also provide education and ongoing quality review to ensure optimal NT screening performance
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Gastroschisis – What Does it Mean?
WHAT IS IT?
Gastroschisis is the presence of bowel loops floating in the amniotic fluid outside the abdomen
There is no membrane covering the bowel loops, therefore organs are exposed to amniotic fluid and can be damaged
The opening in the abdomen is usually just off to the side of where the umbilical cord connects
Incidence is approximately 1 in 1800 births per year in USA
WHAT TO EXPECT:
Your doctor may suggest the following to determine the best management plan for your pregnancy
Detailed ultrasound to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
Amniocentesis or chorionic villus sampling (CVS) using microarray technology (see Related Topics below) to find out if the baby has any changes in the chromosome pattern that could explain this finding
Consultation with other healthcare professionals, including
Pediatric surgeons, to discuss potential surgical repair and appropriate setting for delivery
Maternal Fetal Medicine and Pediatric specialists who deal with bowel issues in children can provide you with more information about what to expect
Genetics services (see below in ‘Underlying Cause’, below)
UNDERLYING CAUSE:
Genetics
Chromosomal abnormalities are not typically seen, especially if no other findings are seen on ultrasound
Cause of gastroschisis is often unknown and likely is the result of many genes combined with environment
Genetic counselors are experts at communicating and educating about birth defects and can provide help in understanding what to expect and whether there is risk to future children or other family members
KEY POINTS:
Prenatal screening and detection are available with the following tests during pregnancy
Alpha-fetoprotein, a protein made by the fetal liver, is elevated
If measured in the mother’s blood, the test is called MSAFP (Maternal Serum AFP)
If measured in the amniotic fluid, the test is called AFAFP (Amniotic Fluid AFP)
Prenatal ultrasound
Research suggests better outcomes at perinatal centers that also include surgical teams capable of definitive operative management and neonatal intensive care availability
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
Omphalocele Explained
WHAT IS IT?
Omphalocele, or exomphalos, is the protrusion of internal organs (may include intestines, liver and other abdominal organs) through the abdominal wall of the fetus and has a thin covering
Occurs where the umbilical cord attaches to abdomen
Abdominal organs are normally found outside the body between 6 to 10 weeks of development
Omphalocele occurs when the organs fail to return to the abdomen at the end of the first trimester
Estimated to occur in approximately 1 in 5000 births
WHAT TO EXPECT:
Your doctor may suggest the following to determine the best management plan for your pregnancy
Detailed ultrasound to look for any additional problems that may require attention
Recent advances in ultrasound technology allow for improved visualization of the fetal anatomy, including the heart
A specialized examination of the fetal heart is called a fetal ‘echocardiogram’
Amniocentesis or chorionic villus sampling (CVS) using microarray technology (see Related Topics below) to find out if the baby has any changes in the chromosome pattern that could explain this finding
Consultation with other healthcare professionals, including
Pediatric surgeons, to discuss potential surgical repair and appropriate setting for delivery
Maternal Fetal Medicine and Pediatric specialists who deal with bowel issues in children can provide you with more information about what to expect
Genetics services (see below in ‘Underlying Cause’, below)
UNDERLYING CAUSE:
Genetics: Chromosomal abnormalities may be as high as 50%
Risk of chromosomal problems in the fetus is increased if other abnormalities are seen on ultrasound
Trisomy 18 (an extra chromosome 18) is the most commonly identified chromosome problem
Often associated with cardiac and/or neural tube defects such as spina bifida
Cause of omphalocele is often unknown
Genetic counselors are experts at communicating and educating about birth defects and can provide help to you and your family in understanding what to expect and whether there is risk to future children or other family members
KEY POINTS:
Prenatal screening and detection are available with the following tests during pregnancy
Alpha-fetoprotein, a protein made by the fetal liver, is elevated
If measured in the mother’s blood, the test is called MSAFP (Maternal Serum AFP)
If measured in the amniotic fluid, the test is called AFAFP (Amniotic Fluid AFP)
Prenatal ultrasound
If an omphalocele is identified on ultrasound very early in pregnancy, it may be normal and the intestines will return to the abdomen by 12 weeks gestation
The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.
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