Tag Archives: pregnancy

Rare Genetic Diseases – MCAD

© 2018, GENASSIST, Inc.

By Keith S. Wexler, MBA, CFO, Business Development Director GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

MCAD) – Medium Chain ActylCoA Dehydrogenase Deficiency prevents converting fats to energy especially with fasting fatty acids → acetylCoA). MCAD is inherited in an autosomal recessive manner (25% if both parents are gene carriers).

MCAD is characterized by:

  • Vomiting
  • Lethargy
  • Seizures
  • Hypoglycemia

A mutation may be found in the ACADM gene.

Inheritance: 1 in 50,000

Diagnosis:

  •  Pregnancy – HELLP

Fatty Acid Oxidation Deficiency. Diagnosis: blood/urine (blood – acylcantiines (alanocylcarnitines)

Rx: Glucose – avoid starvation L carnitine?

Medicine: Ravicti

Background: It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.

Rare Disease affects 1 in 2000 people. 7% of the population will be affected with a rare disease in their lifetime.

Rare Genetic Disease affects 1 in 200,000 people. The registry established that there are an average of 4200 cases per Rare Disease. National Organization of Rare Diseases was established in 1983 by Abbey Meyers and others.

Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome [e.g. Medium Chain AcylCoA Dehydrogenase Deficiency (MCAD)] and the family wants to know from the healthcare provider:

  • Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environment, both genetic and non-genetic factors)?
  • Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family?
  • Whether the disease is caused by a Microdeletion?
  • Whether there is testing for the disease and/or syndrome?
  • If there is testing, is prenatal diagnosis and/or Preimplantation Genetic Diagnosis (PGD) available?

Furthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.

If a test returns as “carrier” most conditions identified will require testing the partner since the majority of the conditions tested for are inherited in an autosomal recessive manner [inheritance of one disease causing (deleterious) gene from each parent].

Since not all screening laboratories are contracted with insurance companies and panels currently offered may screen from 3 to 250 diseases, the healthcare provider will need to decide which tests to order and which laboratory to use.

However, the ACOG guideline does not set up a specific pre pregnancy panel nor recommend how many diseases or which diseases should be tested for except for those already recommended [e.g. Cystic Fibrosis, Fragile X, Spinal Muscular Atrophy (SMA), some “ethnic” panels, etc.].

Some laboratories are now offering “customized” panels developed by the healthcare provider in consultation with the laboratory based on the individual’s personal and family history and background. With the increasing availability of such panels and the reduction in the cost, the demand for larger panels and the need for interpretation of laboratory results for the healthcare provider and the patient will continue to increase.

Likewise, it can also be expected as the number of diseases tested for increases, a greater percentage of “variants of uncertain clinical significance” will also increase. Interpretation, explanation and additional recommendations for monitoring and follow-up of the individual screened and other family members will also be required.

MCAD

© 2018, GENASSIST, Inc.

By Keith S. Wexler, MBA, CFO, Business Development Director GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

MCAD) – Medium Chain ActylCoA Dehydrogenase Deficiency prevents converting fats to energy especially with fasting fatty acids → acetylCoA). MCAD is inherited in an autosomal recessive manner (25% if both parents are gene carriers)

MCAD is characterized by:

  • Vomiting
  • Lethargy
  • Seizures
  • Hypoglycemia

A mutation may be found in the ACADM gene.

Inheritance: 1 in 50,000

Diagnosis:

  •  Pregnancy – HELLP

Fatty Acid Oxidation Deficiency. Diagnosis: blood/urine (blood – acylcantiines (alanocylcarnitines)

Rx: Glucose – avoid starvation L carnitine?

Medicine: Ravicti

Background: It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.

Rare Disease affects 1 in 2000 people. 7% of the population will be affected with a rare disease in their lifetime.

Rare Genetic Disease affects 1 in 200,000 people. The registry established that there are an average of 4200 cases per Rare Disease. National Organization of Rare Diseases was established in 1983 by Abbey Meyers and others.

Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome [e.g. Medium Chain AcylCoA Dehydrogenase Deficiency (MCAD)] and the family wants to know from the healthcare provider:

  • Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environment, both genetic and non-genetic factors)?
  • Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family?
  • Whether the disease is caused by a Microdeletion?
  • Whether there is testing for the disease and/or syndrome?
  • If there is testing, is prenatal diagnosis and/or Preimplantation Genetic Diagnosis (PGD) available?

Furthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.

If a test returns as “carrier” most conditions identified will require testing the partner since the majority of the conditions tested for are inherited in an autosomal recessive manner [inheritance of one disease causing (deleterious) gene from each parent].

Since not all screening laboratories are contracted with insurance companies and panels currently offered may screen from 3 to 250 diseases, the healthcare provider will need to decide which tests to order and which laboratory to use.

However, the ACOG guideline does not set up a specific pre pregnancy panel nor recommend how many diseases or which diseases should be tested for except for those already recommended [e.g. Cystic Fibrosis, Fragile X, Spinal Muscular Atrophy (SMA), some “ethnic” panels, etc.].

Some laboratories are now offering “customized” panels developed by the healthcare provider in consultation with the laboratory based on the individual’s personal and family history and background. With the increasing availability of such panels and the reduction in the cost, the demand for larger panels and the need for interpretation of laboratory results for the healthcare provider and the patient will continue to increase.

Likewise, it can also be expected as the number of diseases tested for increases, a greater percentage of “variants of uncertain clinical significance” will also increase. Interpretation, explanation and additional recommendations for monitoring and follow-up of the individual screened and other family members will also be required. 

Medium Chain ActylCoA Dehydrogenase Deficiency (MCAD)

© 2018, GENASSIST, Inc.

By Keith S. Wexler, MBA, CFO, Business Development Director, Life Sciences GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Medium Chain ActylCoA Dehydrogenase Deficiency (MCAD) prevents converting fats to energy especially with fasting fatty acids → acetylCoA). MCAD is inherited in an autosomal recessive manner (25% if both parents are gene carriers).

MCAD is characterized by:

  • Vomiting
  • Lethargy
  • Seizures
  • Hypoglycemia

A mutation may be found in the ACADM gene.

Inheritance: 1 in 50,000

Diagnosis: 

  • Pregnancy – HELLP

Fatty Acid Oxidation Deficiency. Diagnosis: blood/urine (blood – acylcantiines (alanocylcarnitines)

Rx: Glucose – avoid starvation L carnitine?

Medicine: Ravicti

Background: It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.

Rare Disease affects 1 in 2000 people. 7% of the population will be affected with a rare disease in their lifetime.

Rare Genetic Disease affects 1 in 200,000 people. The registry established that there are an average of 4200 cases per Rare Disease.

National Organization of Rare Diseases was established in 1983 by Abbey Meyers and others.

Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome [e.g. Medium Chain AcylCoA Dehydrogenase Deficiency (MCAD)] and the family wants to know from the healthcare provider:

  • Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environment, both genetic and non-genetic factors)?
  • Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family?
  • Whether the disease is caused by a Microdeletion?
  • Whether there is testing for the disease and/or syndrome?
  • If there is testing, is prenatal diagnosis and/or Preimplantation Genetic Diagnosis (PGD) available?

Furthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.

If a test returns as “carrier” most conditions identified will require testing the partner since the majority of the conditions tested for are inherited in an autosomal recessive manner [inheritance of one disease causing (deleterious) gene from each parent].

Since not all screening laboratories are contracted with insurance companies and panels currently offered may screen from 3 to 250 diseases, the healthcare provider will need to decide which tests to order and which laboratory to use.

However, the ACOG guideline does not set up a specific pre pregnancy panel nor recommend how many diseases or which diseases should be tested for except for those already recommended [e.g. Cystic Fibrosis, Fragile X, Spinal Muscular Atrophy (SMA), some “ethnic” panels, etc.].

Some laboratories are now offering “customized” panels developed by the healthcare provider in consultation with the laboratory based on the individual’s personal and family history and background.

With the increasing availability of such panels and the reduction in the cost, the demand for larger panels and the need for interpretation of laboratory results for the healthcare provider and the patient will continue to increase.

Likewise, it can also be expected as the number of diseases tested for increases, a greater percentage of “variants of uncertain clinical significance” will also increase. Interpretation, explanation and additional recommendations for monitoring and follow-up of the individual screened and other family members will also be required. 

ACOG Guidelines

ACOG Access To Genetic Testing

ACOG Fetal Aneuploidy Guidelines

ACOG Microarray Analysis

ACOG Microarrays & Next Gen Sequencing

ACOG Planned Home Birth

ACOG Ultrasound in Pregnancy

Reproductive Medicine – Is It Ever Too Early To Start Planning a Pregnancy?

© 2018, GENASSIST, Inc.   

By Keith S. Wexler, MBA, CFO, Business Development Director, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Background: We are getting more and more calls each week, usually from female patients, asking “I’m thinking about getting pregnant, now what?” The main problem or concern that they are facing is the problem of access to see his/her doctor, Primary Care, or Obstetrician/Gynecologist in a timely manner.

Many healthcare providers are telling patients that their first opening for a new patient can be months. Even current patients of many healthcare providers are being told that it could take 4 to 6 months before they can get in to discuss the possibility of starting a family.

One patient told me that her healthcare provider told her “I know that we are scheduled out 6-8 months, but look on the bright side, why not try to get pregnant on your own, and if you don’t get pregnant, can discuss possible “infertility” options when you come in”.

This was discouraging for the patient since she wanted to have a “checklist” of what she could do prior to pregnancy to give her the best chance for pregnancy and a healthy child.

Suggestions For Women 90 Days Prior To Getting Pregnant :

  • Stop birth control pills
  • Remove Intrauterine Device (IUD)
  • Start Folic Acid or Prenatal Vitamins
  • Stop eating or curtail raw fish, and/or raw or “processed” meat intake
  • Stop drinking alcohol
  • Stop smoking
  • Stop smoking marijuana
  • Start “safe” exercise routine that can continue into pregnancy (e.g. pregnancy pilates vs pilates)
  • List all medications that you are currently on and see if they are safe to take in pregnancy (e.g. medications may be safer to use in pregnancy than the medical problems that would occur in pregnancy without the medication)
  • Make sure that your last annual GYN exam and pap smear was within the last year
  • Keep track of menstrual period

Suggestions For Women to 60 Days Prior To Getting Pregnant :

  • Pick an OB/GYN, Family Practice, Midwife and see if they are taking new patients
  • Start checking to see which healthcare facilities are covered by your insurance
  • Check with your insurance to see how large a pregnancy deductible you have with your insurance (some plans have very high deductibles)
  • Check to see if your state or insurance requires a referral from your Primary Care Physician (PCP) to see an OB/GYN
  • Check with your insurance to see what OB benefits are covered or “non-covered” (many plans do not cover prenatal screening tests that are considered “experimental” or “genetic testing”)
  • Check to see how far you will have to travel in pregnancy to get medical services due to (“non-availability of healthcare providers, rural etc)
  • Complete a family history for the mother of the child and the father of the child back to the grandparents to see if preconceptional (pre-pregnancy) screening needs to be performed

Suggestions For Women to 30 Days Prior To Getting Pregnant :

  • Let your Primary Care Physicians office know that you are thinking about getting pregnant, to see if they have a suggestion of whom they work with (often a referral can get you into an office sooner) and to check if you need a referral
  • See if the Primary Care Physician’s office wants to perform an exam to check height, weight, blood pressure etc. for a baseline and if they suggest any blood testing prior to getting pregnant
  • Continue the “pregnancy” diet
  • If the OB/GYN, midwife, hospital has been selected call each to make sure they still take your insurance and are still taking new patients
  • Remember – many over the counter urine pregnancy tests can tell a patient as early as 6 days before her period that she is pregnant. However it does not tell a woman whether it is a good pregnancy or not

Conclusion:

If you are worried about any of the above suggestions or worried about attempting a pregnancy at all, then you are probably going to be a great parent.

First time parents believe that the greatest challenge and worry is getting pregnant. Whereas, those of us who are parents know that the worrying never stops once the baby is here and until adulthood (as if the worrying about our children ever stops).

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